Incidental Mutation 'R8113:Rapgef6'
| ID |
631018 |
| 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 |
067542-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8113 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54413673-54590111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54516784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 347
(V347A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094536]
[ENSMUST00000101206]
[ENSMUST00000102743]
[ENSMUST00000108894]
[ENSMUST00000108895]
[ENSMUST00000207429]
[ENSMUST00000218995]
|
| AlphaFold |
Q5NCJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094536
AA Change: V62A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092114
Gene: ENSMUSG00000037533
AA Change: V62A
| 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 |
probably benign
Transcript: ENSMUST00000101206
AA Change: V347A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000098766
Gene: ENSMUSG00000037533
AA Change: V347A
| 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 |
probably benign
Transcript: ENSMUST00000102743
AA Change: V347A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099804
Gene: ENSMUSG00000037533
AA Change: V347A
| 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
AA Change: V62A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104522
Gene: ENSMUSG00000037533
AA Change: V62A
| 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 |
probably benign
Transcript: ENSMUST00000108895
AA Change: V347A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000104523
Gene: ENSMUSG00000037533
AA Change: V347A
| 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 |
probably benign
Transcript: ENSMUST00000207429
AA Change: V347A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218995
AA Change: V200A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
96% (72/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
T |
C |
8: 89,048,431 (GRCm39) |
S625P |
probably damaging |
Het |
| Agpat1 |
T |
C |
17: 34,830,586 (GRCm39) |
V170A |
probably damaging |
Het |
| Alg9 |
C |
T |
9: 50,720,080 (GRCm39) |
Q519* |
probably null |
Het |
| Apol8 |
C |
T |
15: 77,634,336 (GRCm39) |
R80H |
probably benign |
Het |
| Arhgap25 |
G |
T |
6: 87,465,287 (GRCm39) |
S118* |
probably null |
Het |
| Arhgap30 |
T |
A |
1: 171,225,086 (GRCm39) |
Y47* |
probably null |
Het |
| Arhgap42 |
C |
T |
9: 9,011,434 (GRCm39) |
D451N |
probably damaging |
Het |
| Cabp2 |
T |
A |
19: 4,135,582 (GRCm39) |
F91I |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,230,943 (GRCm39) |
E108G |
probably benign |
Het |
| Cfap99 |
T |
C |
5: 34,458,763 (GRCm39) |
S53P |
probably damaging |
Het |
| Clec5a |
C |
T |
6: 40,556,361 (GRCm39) |
R135H |
possibly damaging |
Het |
| Cops8 |
T |
G |
1: 90,531,325 (GRCm39) |
D18E |
probably benign |
Het |
| Cped1 |
A |
T |
6: 22,233,480 (GRCm39) |
M779L |
possibly damaging |
Het |
| Cyp4x1 |
G |
A |
4: 114,967,263 (GRCm39) |
H438Y |
probably damaging |
Het |
| Disc1 |
A |
T |
8: 125,815,014 (GRCm39) |
T293S |
probably benign |
Het |
| Ercc1 |
T |
C |
7: 19,084,102 (GRCm39) |
L113S |
probably damaging |
Het |
| Ermp1 |
G |
T |
19: 29,593,196 (GRCm39) |
N765K |
probably benign |
Het |
| Fam83c |
A |
G |
2: 155,676,740 (GRCm39) |
I10T |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,513,008 (GRCm39) |
V788A |
probably benign |
Het |
| Fbn1 |
C |
G |
2: 125,319,489 (GRCm39) |
G92R |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,302,881 (GRCm39) |
M328K |
probably benign |
Het |
| Fzd3 |
C |
A |
14: 65,440,262 (GRCm39) |
S636I |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,594,330 (GRCm39) |
S886P |
probably damaging |
Het |
| Gatad2b |
T |
A |
3: 90,249,029 (GRCm39) |
D22E |
probably benign |
Het |
| Gm7168 |
A |
T |
17: 14,169,238 (GRCm39) |
K202* |
probably null |
Het |
| Gmps |
T |
C |
3: 63,887,690 (GRCm39) |
I54T |
probably damaging |
Het |
| Gp6 |
A |
G |
7: 4,397,114 (GRCm39) |
I107T |
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,273,267 (GRCm39) |
V217A |
possibly damaging |
Het |
| Hdlbp |
T |
A |
1: 93,344,917 (GRCm39) |
I863F |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,624,841 (GRCm39) |
I1021M |
possibly damaging |
Het |
| Igkv6-14 |
C |
T |
6: 70,412,087 (GRCm39) |
A66T |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Iqch |
A |
G |
9: 63,361,855 (GRCm39) |
I925T |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,791,223 (GRCm39) |
E522G |
possibly damaging |
Het |
| Kremen2 |
C |
G |
17: 23,962,776 (GRCm39) |
E103D |
probably damaging |
Het |
| Lig4 |
G |
T |
8: 10,023,485 (GRCm39) |
N98K |
probably benign |
Het |
| Lrrc3b |
T |
G |
14: 15,358,232 (GRCm38) |
I125L |
probably benign |
Het |
| Lrrc4 |
T |
C |
6: 28,829,902 (GRCm39) |
D148G |
probably damaging |
Het |
| Lrsam1 |
A |
G |
2: 32,837,901 (GRCm39) |
Y218H |
possibly damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,119,593 (GRCm39) |
V191I |
probably benign |
Het |
| Nadk |
T |
A |
4: 155,655,127 (GRCm39) |
|
probably null |
Het |
| Napb |
C |
A |
2: 148,551,351 (GRCm39) |
A61S |
possibly damaging |
Het |
| Ncan |
T |
A |
8: 70,561,221 (GRCm39) |
D582V |
possibly damaging |
Het |
| Ncl |
T |
C |
1: 86,284,364 (GRCm39) |
D244G |
possibly damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,791,715 (GRCm39) |
N800S |
possibly damaging |
Het |
| Nlrp9b |
C |
T |
7: 19,753,260 (GRCm39) |
T55M |
probably benign |
Het |
| Nobox |
G |
A |
6: 43,282,951 (GRCm39) |
T228I |
probably benign |
Het |
| Npffr1 |
C |
A |
10: 61,449,750 (GRCm39) |
P8H |
possibly damaging |
Het |
| Nrg2 |
T |
C |
18: 36,154,156 (GRCm39) |
Y587C |
probably damaging |
Het |
| Nsd1 |
T |
G |
13: 55,393,434 (GRCm39) |
V448G |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,371 (GRCm39) |
V142D |
probably benign |
Het |
| Or5e1 |
G |
T |
7: 108,354,438 (GRCm39) |
C125F |
probably damaging |
Het |
| Or8k41 |
T |
G |
2: 86,313,412 (GRCm39) |
I225L |
probably damaging |
Het |
| Or9g20 |
A |
G |
2: 85,630,011 (GRCm39) |
L201P |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Ppp5c |
T |
C |
7: 16,742,932 (GRCm39) |
T229A |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,143,850 (GRCm39) |
Y329C |
probably benign |
Het |
| Prr5 |
C |
T |
15: 84,577,993 (GRCm39) |
R101C |
probably damaging |
Het |
| Psg22 |
T |
C |
7: 18,456,987 (GRCm39) |
M290T |
probably benign |
Het |
| Pzp |
C |
T |
6: 128,490,694 (GRCm39) |
|
probably null |
Het |
| Rttn |
A |
T |
18: 89,029,040 (GRCm39) |
H586L |
probably damaging |
Het |
| Sema3f |
A |
T |
9: 107,565,275 (GRCm39) |
I259K |
possibly damaging |
Het |
| Sgpp1 |
A |
T |
12: 75,763,374 (GRCm39) |
L269Q |
probably damaging |
Het |
| Slc22a8 |
A |
C |
19: 8,582,903 (GRCm39) |
I195L |
probably benign |
Het |
| Slc35a5 |
T |
C |
16: 44,962,551 (GRCm39) |
T425A |
unknown |
Het |
| Spata31e1 |
G |
A |
13: 49,939,548 (GRCm39) |
R721C |
probably benign |
Het |
| Stard13 |
G |
A |
5: 150,986,970 (GRCm39) |
T180I |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Svil |
A |
T |
18: 5,062,385 (GRCm39) |
T902S |
probably damaging |
Het |
| Tnfaip8l3 |
T |
A |
9: 53,934,421 (GRCm39) |
R185W |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,590,393 (GRCm39) |
D21105E |
probably benign |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,729 (GRCm39) |
M209L |
probably benign |
Het |
| Vmn2r125 |
A |
G |
4: 156,703,642 (GRCm39) |
H340R |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,674,481 (GRCm39) |
C412R |
probably damaging |
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 |
|
R4911:Rapgef6
|
UTSW |
11 |
54,513,143 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- CCGATTATGAAATTCCTTTGGTGAC -3'
(R):5'- GTTAACTGCAGGCTATAGAAAATCC -3'
Sequencing Primer
(F):5'- GAGCCAGGTCTCATTTTACATG -3'
(R):5'- CTGCAGGCTATAGAAAATCCTAATTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation