Incidental Mutation 'R2484:Rapgef6'
| ID |
250853 |
| 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 |
040408-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2484 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54413673-54590111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54533582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 482
(V482D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094536]
[ENSMUST00000101206]
[ENSMUST00000102743]
[ENSMUST00000108894]
[ENSMUST00000207429]
[ENSMUST00000218995]
|
| AlphaFold |
Q5NCJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094536
AA Change: V344D
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000092114
Gene: ENSMUSG00000037533
AA Change: V344D
| 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: V629D
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000098766
Gene: ENSMUSG00000037533
AA Change: V629D
| 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: V629D
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099804
Gene: ENSMUSG00000037533
AA Change: V629D
| 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: V344D
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000104522
Gene: ENSMUSG00000037533
AA Change: V344D
| 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 |
noncoding transcript
Transcript: ENSMUST00000149372
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207429
AA Change: V629D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218995
AA Change: V482D
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220269
|
| Meta Mutation Damage Score |
0.0683 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (72/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
G |
A |
2: 68,541,819 (GRCm39) |
D46N |
possibly damaging |
Het |
| A830018L16Rik |
G |
T |
1: 11,666,526 (GRCm39) |
A278S |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,189,641 (GRCm39) |
N252S |
probably benign |
Het |
| Adarb2 |
A |
T |
13: 8,619,810 (GRCm39) |
K99* |
probably null |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atxn1l |
A |
G |
8: 110,458,883 (GRCm39) |
S460P |
probably damaging |
Het |
| Bicra |
T |
A |
7: 15,722,605 (GRCm39) |
N304I |
possibly damaging |
Het |
| Capn10 |
A |
T |
1: 92,872,565 (GRCm39) |
D470V |
probably damaging |
Het |
| Chchd3 |
A |
G |
6: 32,780,950 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Col6a6 |
T |
C |
9: 105,658,003 (GRCm39) |
I736M |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,380,236 (GRCm39) |
N820I |
probably damaging |
Het |
| Drd4 |
C |
T |
7: 140,874,649 (GRCm39) |
P347S |
probably benign |
Het |
| Ephx1 |
A |
T |
1: 180,817,537 (GRCm39) |
V378D |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,313,184 (GRCm39) |
V666E |
probably damaging |
Het |
| Fam20c |
G |
C |
5: 138,794,872 (GRCm39) |
R500S |
probably benign |
Het |
| Glod4 |
A |
T |
11: 76,130,344 (GRCm39) |
D42E |
probably damaging |
Het |
| Golga2 |
T |
C |
2: 32,194,782 (GRCm39) |
I643T |
probably benign |
Het |
| Hnf1b |
A |
T |
11: 83,752,661 (GRCm39) |
T73S |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,239,747 (GRCm39) |
Y2009C |
possibly damaging |
Het |
| Ido2 |
A |
G |
8: 25,023,831 (GRCm39) |
C336R |
probably damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,477,163 (GRCm39) |
V108A |
probably damaging |
Het |
| Igbp1b |
A |
T |
6: 138,634,492 (GRCm39) |
N317K |
probably benign |
Het |
| Ints14 |
A |
G |
9: 64,893,366 (GRCm39) |
S511G |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,346,071 (GRCm39) |
S125P |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,926,620 (GRCm39) |
T975A |
possibly damaging |
Het |
| Klra17 |
A |
G |
6: 129,845,720 (GRCm39) |
W165R |
probably damaging |
Het |
| Leo1 |
T |
A |
9: 75,352,755 (GRCm39) |
N99K |
possibly damaging |
Het |
| Lonp1 |
C |
A |
17: 56,921,659 (GRCm39) |
G883C |
probably damaging |
Het |
| Lpin1 |
C |
A |
12: 16,597,500 (GRCm39) |
G682W |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,367,465 (GRCm39) |
L2432R |
probably damaging |
Het |
| Med12l |
T |
G |
3: 59,205,259 (GRCm39) |
I2075M |
probably benign |
Het |
| Mroh6 |
A |
G |
15: 75,756,177 (GRCm39) |
S660P |
probably benign |
Het |
| Myh6 |
G |
T |
14: 55,198,699 (GRCm39) |
Y309* |
probably null |
Het |
| Myof |
C |
T |
19: 37,892,291 (GRCm39) |
R1154H |
probably benign |
Het |
| Myrip |
G |
A |
9: 120,253,685 (GRCm39) |
E253K |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,346,186 (GRCm39) |
D281G |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,353,182 (GRCm39) |
K1788R |
probably damaging |
Het |
| Nol12 |
A |
G |
15: 78,824,717 (GRCm39) |
|
probably benign |
Het |
| Nptn |
A |
G |
9: 58,550,956 (GRCm39) |
T212A |
possibly damaging |
Het |
| Nptx2 |
C |
T |
5: 144,493,155 (GRCm39) |
A414V |
probably damaging |
Het |
| Nub1 |
A |
G |
5: 24,913,700 (GRCm39) |
D503G |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 58,898,366 (GRCm39) |
|
probably benign |
Het |
| Or4a80 |
A |
G |
2: 89,582,578 (GRCm39) |
I198T |
probably benign |
Het |
| Or51q1 |
A |
G |
7: 103,628,545 (GRCm39) |
T49A |
probably benign |
Het |
| Or5b97 |
C |
T |
19: 12,879,005 (GRCm39) |
M46I |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,617,859 (GRCm39) |
E132G |
probably damaging |
Het |
| Pkdcc |
A |
G |
17: 83,529,667 (GRCm39) |
|
probably benign |
Het |
| Prdm2 |
T |
A |
4: 142,861,776 (GRCm39) |
I505F |
probably damaging |
Het |
| Psmc3 |
C |
G |
2: 90,886,346 (GRCm39) |
Q169E |
probably damaging |
Het |
| Ptger4 |
A |
T |
15: 5,264,654 (GRCm39) |
I334N |
probably benign |
Het |
| Ptrh1 |
T |
C |
2: 32,667,183 (GRCm39) |
M161T |
probably benign |
Het |
| Rdh16f2 |
T |
C |
10: 127,710,946 (GRCm39) |
S188P |
probably damaging |
Het |
| Rrh |
T |
C |
3: 129,616,040 (GRCm39) |
Y31C |
probably damaging |
Het |
| Selp |
G |
T |
1: 163,971,523 (GRCm39) |
W659L |
probably benign |
Het |
| Selp |
G |
T |
1: 163,971,524 (GRCm39) |
W659C |
probably damaging |
Het |
| Shh |
A |
G |
5: 28,671,740 (GRCm39) |
C8R |
probably benign |
Het |
| Spdye4b |
C |
A |
5: 143,187,848 (GRCm39) |
S167R |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,535,537 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Sucla2 |
A |
T |
14: 73,819,149 (GRCm39) |
I232F |
probably benign |
Het |
| Sugp1 |
A |
G |
8: 70,522,174 (GRCm39) |
D437G |
possibly damaging |
Het |
| Taf1a |
A |
G |
1: 183,177,422 (GRCm39) |
|
probably benign |
Het |
| Tbc1d20 |
T |
A |
2: 152,153,283 (GRCm39) |
M271K |
probably damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,899,752 (GRCm39) |
S707P |
probably benign |
Het |
| Tert |
G |
A |
13: 73,796,104 (GRCm39) |
R1017H |
probably benign |
Het |
| Tox |
C |
G |
4: 6,688,886 (GRCm39) |
V493L |
probably damaging |
Het |
| Tpo |
C |
T |
12: 30,153,968 (GRCm39) |
A246T |
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,730,613 (GRCm39) |
V358D |
probably damaging |
Het |
| Trim56 |
C |
T |
5: 137,141,528 (GRCm39) |
V663M |
possibly damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Usf3 |
C |
T |
16: 44,041,045 (GRCm39) |
H1842Y |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,537,668 (GRCm39) |
E509G |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,392 (GRCm39) |
D305G |
possibly damaging |
Het |
| Vmn2r52 |
T |
C |
7: 9,903,058 (GRCm39) |
R457G |
probably damaging |
Het |
| Vti1a |
A |
C |
19: 55,369,411 (GRCm39) |
N101T |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,686,762 (GRCm39) |
F259L |
probably benign |
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 |
|
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 |
|
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'- CCTGAGAAAGTGACGATTGTTATC -3'
(R):5'- TTTGGAGGCAAGATACTAAATCGTG -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- GGCAAGATACTAAATCGTGTTTTATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation