Incidental Mutation 'R4911:Rapgef6'
ID |
439487 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rapgef6
|
Ensembl Gene |
ENSMUSG00000037533 |
Gene Name |
Rap guanine nucleotide exchange factor (GEF) 6 |
Synonyms |
PDZ-GEF2, C030018K18Rik, Pdzgef2, RA-GEF-2 |
MMRRC Submission |
042513-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4911 (G1)
|
Quality Score |
200 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
54413673-54590111 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 54513143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 122
(E122D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151509
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094536]
[ENSMUST00000101206]
[ENSMUST00000102743]
[ENSMUST00000108894]
[ENSMUST00000108895]
[ENSMUST00000207429]
[ENSMUST00000218995]
|
AlphaFold |
Q5NCJ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094536
|
SMART Domains |
Protein: ENSMUSP00000092114 Gene: ENSMUSG00000037533
Domain | Start | End | E-Value | Type |
cNMP
|
1 |
113 |
6.64e-7 |
SMART |
RasGEFN
|
127 |
240 |
4.35e-33 |
SMART |
PDZ
|
255 |
327 |
8.86e-16 |
SMART |
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
RA
|
464 |
550 |
1.47e-20 |
SMART |
RasGEF
|
571 |
853 |
3.88e-84 |
SMART |
low complexity region
|
944 |
957 |
N/A |
INTRINSIC |
low complexity region
|
972 |
989 |
N/A |
INTRINSIC |
low complexity region
|
1016 |
1061 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101206
AA Change: E269D
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000098766 Gene: ENSMUSG00000037533 AA Change: E269D
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
10 |
82 |
1.45e-5 |
PROSPERO |
low complexity region
|
187 |
205 |
N/A |
INTRINSIC |
low complexity region
|
231 |
239 |
N/A |
INTRINSIC |
cNMP
|
280 |
398 |
4.8e-13 |
SMART |
RasGEFN
|
412 |
525 |
4.35e-33 |
SMART |
PDZ
|
540 |
612 |
8.86e-16 |
SMART |
low complexity region
|
694 |
705 |
N/A |
INTRINSIC |
RA
|
749 |
835 |
1.47e-20 |
SMART |
RasGEF
|
856 |
1095 |
5.35e-87 |
SMART |
low complexity region
|
1237 |
1250 |
N/A |
INTRINSIC |
low complexity region
|
1270 |
1293 |
N/A |
INTRINSIC |
low complexity region
|
1345 |
1364 |
N/A |
INTRINSIC |
low complexity region
|
1368 |
1380 |
N/A |
INTRINSIC |
low complexity region
|
1444 |
1452 |
N/A |
INTRINSIC |
low complexity region
|
1555 |
1568 |
N/A |
INTRINSIC |
low complexity region
|
1591 |
1604 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102743
AA Change: E269D
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099804 Gene: ENSMUSG00000037533 AA Change: E269D
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
10 |
82 |
1.42e-5 |
PROSPERO |
low complexity region
|
187 |
205 |
N/A |
INTRINSIC |
low complexity region
|
231 |
239 |
N/A |
INTRINSIC |
cNMP
|
280 |
398 |
4.8e-13 |
SMART |
RasGEFN
|
412 |
525 |
4.35e-33 |
SMART |
PDZ
|
540 |
612 |
8.86e-16 |
SMART |
low complexity region
|
694 |
705 |
N/A |
INTRINSIC |
RA
|
749 |
835 |
1.47e-20 |
SMART |
RasGEF
|
856 |
1138 |
3.88e-84 |
SMART |
low complexity region
|
1229 |
1242 |
N/A |
INTRINSIC |
low complexity region
|
1262 |
1285 |
N/A |
INTRINSIC |
low complexity region
|
1337 |
1356 |
N/A |
INTRINSIC |
low complexity region
|
1360 |
1372 |
N/A |
INTRINSIC |
low complexity region
|
1436 |
1444 |
N/A |
INTRINSIC |
low complexity region
|
1547 |
1560 |
N/A |
INTRINSIC |
low complexity region
|
1583 |
1596 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108894
|
SMART Domains |
Protein: ENSMUSP00000104522 Gene: ENSMUSG00000037533
Domain | Start | End | E-Value | Type |
cNMP
|
1 |
113 |
6.64e-7 |
SMART |
RasGEFN
|
127 |
240 |
4.35e-33 |
SMART |
PDZ
|
255 |
327 |
8.86e-16 |
SMART |
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
RA
|
464 |
550 |
1.47e-20 |
SMART |
RasGEF
|
571 |
810 |
5.35e-87 |
SMART |
low complexity region
|
952 |
965 |
N/A |
INTRINSIC |
low complexity region
|
980 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1024 |
1069 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108895
AA Change: E269D
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104523 Gene: ENSMUSG00000037533 AA Change: E269D
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
10 |
82 |
1.95e-5 |
PROSPERO |
low complexity region
|
187 |
205 |
N/A |
INTRINSIC |
low complexity region
|
231 |
239 |
N/A |
INTRINSIC |
cNMP
|
280 |
398 |
4.8e-13 |
SMART |
RasGEFN
|
412 |
526 |
1.03e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149372
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207429
AA Change: E269D
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218995
AA Change: E122D
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220269
|
Meta Mutation Damage Score |
0.2296 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
Validation Efficiency |
97% (149/153) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production. [provided by MGI curators]
|
Allele List at MGI |
All alleles(16) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(13) |
Other mutations in this stock |
Total: 132 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
A |
G |
5: 125,583,224 (GRCm39) |
D260G |
possibly damaging |
Het |
Aadacl4 |
T |
A |
4: 144,340,362 (GRCm39) |
L29H |
probably damaging |
Het |
Abca7 |
T |
C |
10: 79,848,022 (GRCm39) |
|
probably null |
Het |
Adgre1 |
G |
A |
17: 57,754,832 (GRCm39) |
M643I |
possibly damaging |
Het |
Adgrl2 |
A |
T |
3: 148,596,099 (GRCm39) |
M79K |
probably damaging |
Het |
Ankrd55 |
T |
A |
13: 112,459,573 (GRCm39) |
|
probably null |
Het |
Aopep |
A |
T |
13: 63,318,753 (GRCm39) |
|
probably null |
Het |
Arhgap21 |
A |
G |
2: 20,863,800 (GRCm39) |
I1257T |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 39,126,690 (GRCm39) |
|
probably benign |
Het |
Arhgap39 |
A |
G |
15: 76,622,005 (GRCm39) |
S199P |
probably damaging |
Het |
Arhgef5 |
A |
G |
6: 43,249,762 (GRCm39) |
D171G |
probably benign |
Het |
Atp7a |
T |
C |
X: 105,163,980 (GRCm39) |
V1305A |
probably damaging |
Het |
B3gnt3 |
T |
A |
8: 72,145,578 (GRCm39) |
R263S |
probably benign |
Het |
B9d1 |
A |
C |
11: 61,398,497 (GRCm39) |
D59A |
probably benign |
Het |
Bag2 |
A |
T |
1: 33,787,357 (GRCm39) |
I55N |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,990,004 (GRCm39) |
I29V |
probably benign |
Het |
Bbs2 |
A |
T |
8: 94,815,743 (GRCm39) |
D174E |
probably damaging |
Het |
Bmp8b |
T |
C |
4: 123,009,030 (GRCm39) |
W203R |
probably damaging |
Het |
Cacnb2 |
A |
T |
2: 14,986,151 (GRCm39) |
E359D |
possibly damaging |
Het |
Camp |
T |
A |
9: 109,676,651 (GRCm39) |
|
probably null |
Het |
Casp4 |
C |
T |
9: 5,328,580 (GRCm39) |
|
probably benign |
Het |
Ccdc110 |
A |
T |
8: 46,395,944 (GRCm39) |
T612S |
probably benign |
Het |
Cd209b |
T |
A |
8: 3,976,640 (GRCm39) |
|
probably null |
Het |
Cemip |
T |
C |
7: 83,632,461 (GRCm39) |
D367G |
probably damaging |
Het |
Cers5 |
T |
A |
15: 99,644,960 (GRCm39) |
N131I |
probably damaging |
Het |
Cfhr4 |
T |
G |
1: 139,702,301 (GRCm39) |
D61A |
probably damaging |
Het |
Chd5 |
T |
G |
4: 152,445,129 (GRCm39) |
V370G |
probably damaging |
Het |
Cipc |
C |
A |
12: 86,999,531 (GRCm39) |
Q20K |
probably benign |
Het |
Cnr2 |
T |
A |
4: 135,644,512 (GRCm39) |
F197I |
possibly damaging |
Het |
Col7a1 |
G |
A |
9: 108,804,287 (GRCm39) |
G2233S |
unknown |
Het |
Dcdc2b |
T |
A |
4: 129,505,060 (GRCm39) |
I125F |
possibly damaging |
Het |
Ddi2 |
A |
G |
4: 141,411,713 (GRCm39) |
S400P |
probably benign |
Het |
Ddx31 |
C |
A |
2: 28,794,696 (GRCm39) |
T664K |
probably benign |
Het |
Dhx30 |
C |
A |
9: 109,929,992 (GRCm39) |
G35C |
probably damaging |
Het |
Dmxl2 |
G |
A |
9: 54,318,937 (GRCm39) |
T1576I |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,017,280 (GRCm39) |
Y1510C |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,389,930 (GRCm39) |
|
probably null |
Het |
Dock10 |
C |
A |
1: 80,583,953 (GRCm39) |
G163C |
probably damaging |
Het |
Edar |
T |
C |
10: 58,457,146 (GRCm39) |
N144S |
probably benign |
Het |
Elavl2 |
T |
A |
4: 91,196,915 (GRCm39) |
E54D |
possibly damaging |
Het |
Enam |
T |
G |
5: 88,650,173 (GRCm39) |
S561A |
probably benign |
Het |
Ercc5 |
C |
A |
1: 44,206,031 (GRCm39) |
H315N |
possibly damaging |
Het |
Esp31 |
A |
G |
17: 38,955,552 (GRCm39) |
E65G |
possibly damaging |
Het |
Faap100 |
T |
C |
11: 120,262,939 (GRCm39) |
I806M |
probably benign |
Het |
Fbxw21 |
T |
C |
9: 108,974,731 (GRCm39) |
Y263C |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,811,837 (GRCm39) |
S2719T |
possibly damaging |
Het |
Fv1 |
T |
C |
4: 147,953,875 (GRCm39) |
V147A |
probably benign |
Het |
Gal |
T |
C |
19: 3,461,590 (GRCm39) |
E65G |
probably benign |
Het |
Galnt2l |
A |
G |
8: 123,807,343 (GRCm39) |
|
probably benign |
Het |
Galnt6 |
T |
C |
15: 100,614,059 (GRCm39) |
T81A |
probably benign |
Het |
Gcc2 |
A |
G |
10: 58,106,261 (GRCm39) |
E399G |
probably damaging |
Het |
Gfi1b |
A |
T |
2: 28,500,114 (GRCm39) |
C306S |
probably damaging |
Het |
Gm10654 |
T |
A |
8: 71,384,496 (GRCm39) |
|
noncoding transcript |
Het |
Gm4953 |
T |
A |
1: 158,995,929 (GRCm39) |
|
noncoding transcript |
Het |
Gorasp2 |
T |
C |
2: 70,518,683 (GRCm39) |
|
probably benign |
Het |
Gse1 |
T |
C |
8: 121,295,205 (GRCm39) |
|
probably benign |
Het |
H2-D1 |
A |
G |
17: 35,484,973 (GRCm39) |
E278G |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
Hgs |
T |
A |
11: 120,368,028 (GRCm39) |
S246T |
probably damaging |
Het |
Hs2st1 |
T |
C |
3: 144,170,843 (GRCm39) |
T110A |
probably benign |
Het |
Hydin |
A |
G |
8: 111,322,070 (GRCm39) |
Y4574C |
probably benign |
Het |
Ighv1-23 |
C |
A |
12: 114,728,372 (GRCm39) |
V17F |
possibly damaging |
Het |
Ighv8-14 |
A |
T |
12: 115,772,185 (GRCm39) |
|
noncoding transcript |
Het |
Igsf21 |
C |
T |
4: 139,761,934 (GRCm39) |
R248H |
probably benign |
Het |
Il22b |
T |
C |
10: 118,130,894 (GRCm39) |
M1V |
probably null |
Het |
Il23r |
T |
C |
6: 67,400,545 (GRCm39) |
N595S |
probably benign |
Het |
Il5ra |
G |
T |
6: 106,692,629 (GRCm39) |
P372Q |
probably damaging |
Het |
Inppl1 |
A |
G |
7: 101,481,516 (GRCm39) |
V222A |
possibly damaging |
Het |
Ints10 |
T |
C |
8: 69,279,964 (GRCm39) |
V697A |
probably damaging |
Het |
Isg15 |
T |
A |
4: 156,284,217 (GRCm39) |
T104S |
probably benign |
Het |
Kif11 |
A |
G |
19: 37,406,385 (GRCm39) |
T983A |
probably benign |
Het |
Kif3b |
A |
T |
2: 153,159,212 (GRCm39) |
K338* |
probably null |
Het |
Kpna2 |
T |
A |
11: 106,881,545 (GRCm39) |
I362F |
probably damaging |
Het |
Lama2 |
G |
A |
10: 27,014,923 (GRCm39) |
T1595M |
probably damaging |
Het |
Lrrc36 |
A |
G |
8: 106,153,567 (GRCm39) |
T126A |
probably benign |
Het |
Lrrk1 |
T |
A |
7: 65,945,202 (GRCm39) |
D604V |
probably damaging |
Het |
Map7d1 |
T |
C |
4: 126,130,484 (GRCm39) |
K409E |
probably damaging |
Het |
Mast2 |
T |
C |
4: 116,210,254 (GRCm39) |
T110A |
probably benign |
Het |
Micall2 |
G |
A |
5: 139,702,580 (GRCm39) |
T221M |
probably damaging |
Het |
Morc2b |
T |
A |
17: 33,356,351 (GRCm39) |
N474Y |
probably damaging |
Het |
Myo1e |
T |
A |
9: 70,250,378 (GRCm39) |
M528K |
probably benign |
Het |
Nlrp1c-ps |
G |
T |
11: 71,151,195 (GRCm39) |
|
noncoding transcript |
Het |
Nostrin |
T |
C |
2: 68,991,486 (GRCm39) |
S160P |
possibly damaging |
Het |
Nup133 |
T |
C |
8: 124,653,870 (GRCm39) |
R530G |
possibly damaging |
Het |
Or2f2 |
T |
A |
6: 42,767,138 (GRCm39) |
L55H |
probably damaging |
Het |
Or5p64 |
T |
C |
7: 107,855,244 (GRCm39) |
I34V |
possibly damaging |
Het |
Or8c16 |
A |
G |
9: 38,130,392 (GRCm39) |
E91G |
probably damaging |
Het |
Pabpc4l |
A |
T |
3: 46,400,597 (GRCm39) |
M349K |
possibly damaging |
Het |
Pah |
G |
A |
10: 87,406,129 (GRCm39) |
G256S |
probably benign |
Het |
Pigk |
T |
C |
3: 152,445,841 (GRCm39) |
S151P |
probably damaging |
Het |
Plcd4 |
A |
C |
1: 74,603,572 (GRCm39) |
T658P |
possibly damaging |
Het |
Pld4 |
A |
T |
12: 112,730,951 (GRCm39) |
S178C |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,886,213 (GRCm39) |
E23K |
possibly damaging |
Het |
Pomt1 |
T |
C |
2: 32,131,691 (GRCm39) |
S127P |
probably damaging |
Het |
Pon2 |
A |
G |
6: 5,269,029 (GRCm39) |
V215A |
possibly damaging |
Het |
Ppp3cb |
A |
T |
14: 20,559,508 (GRCm39) |
M416K |
probably damaging |
Het |
Prdm1 |
A |
T |
10: 44,318,048 (GRCm39) |
N273K |
possibly damaging |
Het |
Prg4 |
T |
A |
1: 150,331,574 (GRCm39) |
|
probably benign |
Het |
Prkn |
G |
T |
17: 11,059,359 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
G |
A |
13: 63,670,866 (GRCm39) |
T888M |
probably damaging |
Het |
Pusl1 |
T |
G |
4: 155,975,899 (GRCm39) |
|
probably benign |
Het |
Rif1 |
C |
T |
2: 52,000,530 (GRCm39) |
T1328I |
probably damaging |
Het |
Rngtt |
T |
G |
4: 33,500,292 (GRCm39) |
|
probably null |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Samd1 |
A |
G |
8: 84,725,618 (GRCm39) |
|
probably benign |
Het |
Scamp5 |
A |
T |
9: 57,358,735 (GRCm39) |
F14I |
probably damaging |
Het |
Shank3 |
C |
T |
15: 89,388,547 (GRCm39) |
R380C |
probably damaging |
Het |
Shisal2a |
T |
C |
4: 108,234,658 (GRCm39) |
T70A |
probably benign |
Het |
Slc1a4 |
C |
A |
11: 20,282,166 (GRCm39) |
A103S |
probably damaging |
Het |
Slc39a14 |
A |
G |
14: 70,547,371 (GRCm39) |
V325A |
probably benign |
Het |
Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
Spata6l |
G |
A |
19: 28,874,903 (GRCm39) |
|
probably benign |
Het |
Spta1 |
T |
A |
1: 174,013,213 (GRCm39) |
S375T |
probably damaging |
Het |
Sval1 |
A |
G |
6: 41,932,378 (GRCm39) |
N76S |
probably benign |
Het |
Synpo |
C |
T |
18: 60,762,936 (GRCm39) |
|
probably benign |
Het |
Sytl5 |
C |
T |
X: 9,781,841 (GRCm39) |
P181L |
possibly damaging |
Het |
Tacc1 |
A |
G |
8: 25,672,622 (GRCm39) |
M111T |
possibly damaging |
Het |
Tec |
T |
C |
5: 72,913,694 (GRCm39) |
D613G |
probably benign |
Het |
Tecpr2 |
C |
T |
12: 110,897,921 (GRCm39) |
T391I |
possibly damaging |
Het |
Thop1 |
G |
A |
10: 80,909,125 (GRCm39) |
G52D |
probably damaging |
Het |
Tmco5 |
T |
A |
2: 116,722,689 (GRCm39) |
V270D |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,556,973 (GRCm39) |
E28265K |
possibly damaging |
Het |
Tuft1 |
T |
C |
3: 94,542,750 (GRCm39) |
D72G |
probably damaging |
Het |
Tyrp1 |
C |
T |
4: 80,769,144 (GRCm39) |
|
probably benign |
Het |
Usp9y |
T |
C |
Y: 1,308,041 (GRCm39) |
D2265G |
probably damaging |
Het |
Vmn2r104 |
G |
A |
17: 20,250,288 (GRCm39) |
A661V |
probably benign |
Het |
Vwa5a |
A |
T |
9: 38,649,268 (GRCm39) |
N672I |
probably benign |
Het |
Wdr95 |
A |
T |
5: 149,535,157 (GRCm39) |
K772* |
probably null |
Het |
Ybx1 |
T |
C |
4: 119,140,010 (GRCm39) |
T106A |
probably benign |
Het |
Ypel3 |
T |
C |
7: 126,376,961 (GRCm39) |
S14P |
probably benign |
Het |
Zfp518a |
T |
A |
19: 40,903,972 (GRCm39) |
S1300R |
probably benign |
Het |
Zscan5b |
A |
T |
7: 6,242,189 (GRCm39) |
*469Y |
probably null |
Het |
|
Other mutations in Rapgef6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00436:Rapgef6
|
APN |
11 |
54,570,091 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00507:Rapgef6
|
APN |
11 |
54,554,935 (GRCm39) |
nonsense |
probably null |
|
IGL00809:Rapgef6
|
APN |
11 |
54,540,126 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00843:Rapgef6
|
APN |
11 |
54,582,099 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00899:Rapgef6
|
APN |
11 |
54,510,844 (GRCm39) |
nonsense |
probably null |
|
IGL01372:Rapgef6
|
APN |
11 |
54,559,437 (GRCm39) |
splice site |
probably benign |
|
IGL01604:Rapgef6
|
APN |
11 |
54,585,389 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01935:Rapgef6
|
APN |
11 |
54,501,668 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01991:Rapgef6
|
APN |
11 |
54,443,695 (GRCm39) |
missense |
probably benign |
0.37 |
IGL02243:Rapgef6
|
APN |
11 |
54,567,226 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02407:Rapgef6
|
APN |
11 |
54,567,181 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02676:Rapgef6
|
APN |
11 |
54,540,172 (GRCm39) |
unclassified |
probably benign |
|
IGL02934:Rapgef6
|
APN |
11 |
54,516,690 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03076:Rapgef6
|
APN |
11 |
54,516,793 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03110:Rapgef6
|
APN |
11 |
54,586,915 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03256:Rapgef6
|
APN |
11 |
54,548,255 (GRCm39) |
missense |
probably damaging |
1.00 |
shocker
|
UTSW |
11 |
54,510,842 (GRCm39) |
missense |
probably damaging |
1.00 |
D4216:Rapgef6
|
UTSW |
11 |
54,559,572 (GRCm39) |
splice site |
probably benign |
|
PIT4305001:Rapgef6
|
UTSW |
11 |
54,570,203 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4366001:Rapgef6
|
UTSW |
11 |
54,582,446 (GRCm39) |
missense |
probably damaging |
0.98 |
R0047:Rapgef6
|
UTSW |
11 |
54,437,204 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0047:Rapgef6
|
UTSW |
11 |
54,437,204 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0125:Rapgef6
|
UTSW |
11 |
54,516,701 (GRCm39) |
nonsense |
probably null |
|
R0189:Rapgef6
|
UTSW |
11 |
54,582,075 (GRCm39) |
missense |
probably benign |
|
R0201:Rapgef6
|
UTSW |
11 |
54,510,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R0505:Rapgef6
|
UTSW |
11 |
54,516,789 (GRCm39) |
missense |
probably benign |
0.00 |
R0524:Rapgef6
|
UTSW |
11 |
54,581,110 (GRCm39) |
missense |
probably benign |
0.32 |
R0853:Rapgef6
|
UTSW |
11 |
54,559,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R1203:Rapgef6
|
UTSW |
11 |
54,582,525 (GRCm39) |
missense |
probably benign |
0.09 |
R1440:Rapgef6
|
UTSW |
11 |
54,517,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R1453:Rapgef6
|
UTSW |
11 |
54,530,553 (GRCm39) |
splice site |
probably null |
|
R1530:Rapgef6
|
UTSW |
11 |
54,552,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R1593:Rapgef6
|
UTSW |
11 |
54,437,223 (GRCm39) |
frame shift |
probably null |
|
R1620:Rapgef6
|
UTSW |
11 |
54,517,420 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1628:Rapgef6
|
UTSW |
11 |
54,437,223 (GRCm39) |
frame shift |
probably null |
|
R1629:Rapgef6
|
UTSW |
11 |
54,437,223 (GRCm39) |
frame shift |
probably null |
|
R1630:Rapgef6
|
UTSW |
11 |
54,437,223 (GRCm39) |
frame shift |
probably null |
|
R1634:Rapgef6
|
UTSW |
11 |
54,437,223 (GRCm39) |
frame shift |
probably null |
|
R1640:Rapgef6
|
UTSW |
11 |
54,548,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R1686:Rapgef6
|
UTSW |
11 |
54,582,458 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1722:Rapgef6
|
UTSW |
11 |
54,437,223 (GRCm39) |
frame shift |
probably null |
|
R1743:Rapgef6
|
UTSW |
11 |
54,567,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R1816:Rapgef6
|
UTSW |
11 |
54,585,314 (GRCm39) |
missense |
probably benign |
|
R1851:Rapgef6
|
UTSW |
11 |
54,533,637 (GRCm39) |
missense |
probably benign |
0.01 |
R1852:Rapgef6
|
UTSW |
11 |
54,533,637 (GRCm39) |
missense |
probably benign |
0.01 |
R1868:Rapgef6
|
UTSW |
11 |
54,437,223 (GRCm39) |
frame shift |
probably null |
|
R1888:Rapgef6
|
UTSW |
11 |
54,551,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Rapgef6
|
UTSW |
11 |
54,551,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R1942:Rapgef6
|
UTSW |
11 |
54,548,089 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1943:Rapgef6
|
UTSW |
11 |
54,548,089 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2031:Rapgef6
|
UTSW |
11 |
54,443,684 (GRCm39) |
missense |
probably benign |
0.30 |
R2087:Rapgef6
|
UTSW |
11 |
54,522,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R2106:Rapgef6
|
UTSW |
11 |
54,559,512 (GRCm39) |
missense |
probably benign |
0.17 |
R2362:Rapgef6
|
UTSW |
11 |
54,585,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R2484:Rapgef6
|
UTSW |
11 |
54,533,582 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2566:Rapgef6
|
UTSW |
11 |
54,578,537 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2872:Rapgef6
|
UTSW |
11 |
54,552,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R2872:Rapgef6
|
UTSW |
11 |
54,552,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R3744:Rapgef6
|
UTSW |
11 |
54,516,760 (GRCm39) |
missense |
probably benign |
0.40 |
R3848:Rapgef6
|
UTSW |
11 |
54,582,134 (GRCm39) |
missense |
probably damaging |
0.97 |
R4823:Rapgef6
|
UTSW |
11 |
54,585,326 (GRCm39) |
missense |
probably benign |
0.08 |
R4859:Rapgef6
|
UTSW |
11 |
54,526,989 (GRCm39) |
missense |
probably benign |
|
R4906:Rapgef6
|
UTSW |
11 |
54,443,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Rapgef6
|
UTSW |
11 |
54,548,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R5033:Rapgef6
|
UTSW |
11 |
54,582,207 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5249:Rapgef6
|
UTSW |
11 |
54,413,943 (GRCm39) |
missense |
probably benign |
0.19 |
R5304:Rapgef6
|
UTSW |
11 |
54,548,200 (GRCm39) |
missense |
probably benign |
0.01 |
R5656:Rapgef6
|
UTSW |
11 |
54,526,962 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5701:Rapgef6
|
UTSW |
11 |
54,567,220 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5758:Rapgef6
|
UTSW |
11 |
54,559,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R5973:Rapgef6
|
UTSW |
11 |
54,530,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R6177:Rapgef6
|
UTSW |
11 |
54,510,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R6268:Rapgef6
|
UTSW |
11 |
54,540,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R6287:Rapgef6
|
UTSW |
11 |
54,517,164 (GRCm39) |
splice site |
probably null |
|
R6293:Rapgef6
|
UTSW |
11 |
54,525,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R6471:Rapgef6
|
UTSW |
11 |
54,582,563 (GRCm39) |
missense |
probably damaging |
0.99 |
R6863:Rapgef6
|
UTSW |
11 |
54,437,206 (GRCm39) |
missense |
probably benign |
0.00 |
R6950:Rapgef6
|
UTSW |
11 |
54,567,206 (GRCm39) |
missense |
probably benign |
0.09 |
R7144:Rapgef6
|
UTSW |
11 |
54,548,191 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7171:Rapgef6
|
UTSW |
11 |
54,567,189 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7199:Rapgef6
|
UTSW |
11 |
54,437,252 (GRCm39) |
missense |
probably benign |
0.00 |
R7291:Rapgef6
|
UTSW |
11 |
54,582,065 (GRCm39) |
missense |
probably benign |
0.05 |
R7436:Rapgef6
|
UTSW |
11 |
54,501,747 (GRCm39) |
critical splice donor site |
probably null |
|
R7498:Rapgef6
|
UTSW |
11 |
54,510,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R7506:Rapgef6
|
UTSW |
11 |
54,526,997 (GRCm39) |
missense |
probably benign |
0.00 |
R7527:Rapgef6
|
UTSW |
11 |
54,525,787 (GRCm39) |
missense |
unknown |
|
R7646:Rapgef6
|
UTSW |
11 |
54,516,780 (GRCm39) |
missense |
probably benign |
0.00 |
R7655:Rapgef6
|
UTSW |
11 |
54,585,279 (GRCm39) |
missense |
probably benign |
0.10 |
R7656:Rapgef6
|
UTSW |
11 |
54,585,279 (GRCm39) |
missense |
probably benign |
0.10 |
R7687:Rapgef6
|
UTSW |
11 |
54,551,901 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7768:Rapgef6
|
UTSW |
11 |
54,517,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R7788:Rapgef6
|
UTSW |
11 |
54,585,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R7890:Rapgef6
|
UTSW |
11 |
54,517,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R8113:Rapgef6
|
UTSW |
11 |
54,516,784 (GRCm39) |
missense |
probably benign |
0.03 |
R8337:Rapgef6
|
UTSW |
11 |
54,522,127 (GRCm39) |
nonsense |
probably null |
|
R8393:Rapgef6
|
UTSW |
11 |
54,578,487 (GRCm39) |
missense |
probably benign |
|
R8465:Rapgef6
|
UTSW |
11 |
54,582,308 (GRCm39) |
missense |
probably benign |
0.00 |
R8492:Rapgef6
|
UTSW |
11 |
54,581,063 (GRCm39) |
missense |
probably damaging |
0.99 |
R8791:Rapgef6
|
UTSW |
11 |
54,459,295 (GRCm39) |
missense |
probably benign |
0.15 |
R8866:Rapgef6
|
UTSW |
11 |
54,443,700 (GRCm39) |
critical splice donor site |
probably null |
|
R8917:Rapgef6
|
UTSW |
11 |
54,582,392 (GRCm39) |
nonsense |
probably null |
|
R8921:Rapgef6
|
UTSW |
11 |
54,570,065 (GRCm39) |
missense |
probably benign |
0.09 |
R9031:Rapgef6
|
UTSW |
11 |
54,578,667 (GRCm39) |
missense |
probably benign |
0.00 |
R9093:Rapgef6
|
UTSW |
11 |
54,487,912 (GRCm39) |
nonsense |
probably null |
|
R9354:Rapgef6
|
UTSW |
11 |
54,510,749 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9514:Rapgef6
|
UTSW |
11 |
54,443,684 (GRCm39) |
missense |
probably benign |
0.14 |
R9516:Rapgef6
|
UTSW |
11 |
54,582,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R9739:Rapgef6
|
UTSW |
11 |
54,513,189 (GRCm39) |
missense |
probably benign |
0.03 |
R9789:Rapgef6
|
UTSW |
11 |
54,540,097 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCGACGGTAAATATACATACAGT -3'
(R):5'- AGCACCAGGAAAACAGCAATTT -3'
Sequencing Primer
(F):5'- TTATTTGATAGCTCTATTGCCTGC -3'
(R):5'- TTAATCACCCCAACCAAGTATTCACG -3'
|
Genotyping |
Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.
PCR Primers
R49110111_PCR_F: 5’- TGCGACGGTAAATATACATACAGT-3’
R49110111_PCR_R: 5’- AGCACCAGGAAAACAGCAATTT-3’ Sequencing Primers
R49110111_SEQ_F: 5’- TTATTTGATAGCTCTATTGCCTGC-3’
R49110111_SEQ_R: 5’- TTAATCACCCCAACCAAGTATTCACG-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C hold The following sequence of 569 nucleotides is amplified (Chr11: 54622050-54622618; NCBI RefSeq: NC_000077): tgcgacggta aatatacata cagtttataa atttatatgt gtacacatat aacctactaa
attaactggg tttttataaa atatttttat ttgatagctc tattgcctgc atatacatct
gtgcatcata tgtgtgcaat gctatggagg tcagatatgg gtgtcaggtc ctacgttgat
taacaagttg aatactgaat taacaaaatt tgtatgttaa agtaagcatc attgatcttt
atactgggat ttgtgttttc ttacagaaca gttacttgag ttcatgcacc agctgcctgc
ctttgcgaac atgaccatgt ctgtaaggag agaactctgc tccgtcatgg tttttgaagt
agtagagcag gctggggctg ttattcttga agatgggcaa gaggtaggtc agcagattat
taaattaatt tctctaagct tgtataaatt caagcttttt ggtttaaatt attttgcgtg
aatacttggt tggggtgatt aatttttgaa gaggttgtct tgttgtggtt attgctttac
tctttttaaa ttgctgtttt cctggtgct Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = A>T).
|
Posted On |
2016-11-02 |