Incidental Mutation 'R1628:Ralgapb'
ID |
172587 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ralgapb
|
Ensembl Gene |
ENSMUSG00000027652 |
Gene Name |
Ral GTPase activating protein, beta subunit (non-catalytic) |
Synonyms |
B230339M05Rik |
MMRRC Submission |
039665-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1628 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158251768-158341173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 158272383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 146
(R146G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046274]
[ENSMUST00000109485]
[ENSMUST00000109486]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046274
AA Change: R146G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000048430 Gene: ENSMUSG00000027652 AA Change: R146G
Domain | Start | End | E-Value | Type |
low complexity region
|
166 |
178 |
N/A |
INTRINSIC |
low complexity region
|
610 |
625 |
N/A |
INTRINSIC |
low complexity region
|
775 |
788 |
N/A |
INTRINSIC |
low complexity region
|
910 |
920 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1097 |
N/A |
INTRINSIC |
low complexity region
|
1309 |
1321 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109485
AA Change: R146G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000105111 Gene: ENSMUSG00000027652 AA Change: R146G
Domain | Start | End | E-Value | Type |
low complexity region
|
166 |
178 |
N/A |
INTRINSIC |
low complexity region
|
622 |
637 |
N/A |
INTRINSIC |
low complexity region
|
791 |
804 |
N/A |
INTRINSIC |
low complexity region
|
926 |
936 |
N/A |
INTRINSIC |
low complexity region
|
1102 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1325 |
1337 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109486
AA Change: R146G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000105112 Gene: ENSMUSG00000027652 AA Change: R146G
Domain | Start | End | E-Value | Type |
low complexity region
|
166 |
178 |
N/A |
INTRINSIC |
low complexity region
|
610 |
625 |
N/A |
INTRINSIC |
low complexity region
|
779 |
792 |
N/A |
INTRINSIC |
low complexity region
|
914 |
924 |
N/A |
INTRINSIC |
low complexity region
|
1090 |
1101 |
N/A |
INTRINSIC |
low complexity region
|
1313 |
1325 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143394
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150789
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173137
|
Meta Mutation Damage Score |
0.1120 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
99% (75/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
C |
T |
17: 84,999,419 (GRCm39) |
Q172* |
probably null |
Het |
AI467606 |
G |
A |
7: 126,691,755 (GRCm39) |
G110D |
probably benign |
Het |
Arhgef15 |
A |
C |
11: 68,835,640 (GRCm39) |
L805R |
possibly damaging |
Het |
B3galnt1 |
G |
A |
3: 69,482,961 (GRCm39) |
T100I |
probably damaging |
Het |
Bod1l |
T |
A |
5: 41,974,325 (GRCm39) |
M2330L |
probably benign |
Het |
Calcr |
A |
T |
6: 3,700,251 (GRCm39) |
H280Q |
possibly damaging |
Het |
Camk1d |
T |
C |
2: 5,315,848 (GRCm39) |
D263G |
probably damaging |
Het |
Cd48 |
T |
A |
1: 171,532,420 (GRCm39) |
I233N |
probably damaging |
Het |
Cyp3a25 |
A |
T |
5: 145,938,273 (GRCm39) |
Y68* |
probably null |
Het |
Dapk3 |
C |
A |
10: 81,027,643 (GRCm39) |
T227K |
possibly damaging |
Het |
Dnajc22 |
A |
G |
15: 98,998,817 (GRCm39) |
M1V |
probably null |
Het |
Etv5 |
C |
T |
16: 22,220,421 (GRCm39) |
|
probably null |
Het |
Gabrr1 |
A |
G |
4: 33,152,432 (GRCm39) |
Y124C |
probably damaging |
Het |
Gba2 |
C |
T |
4: 43,570,118 (GRCm39) |
R392Q |
probably benign |
Het |
Gli3 |
C |
G |
13: 15,900,897 (GRCm39) |
A1428G |
probably benign |
Het |
Gls |
G |
A |
1: 52,271,835 (GRCm39) |
A106V |
probably benign |
Het |
Gm21370 |
A |
G |
13: 120,488,414 (GRCm39) |
V45A |
possibly damaging |
Het |
Gpr4 |
A |
G |
7: 18,957,124 (GRCm39) |
T349A |
probably benign |
Het |
Gpr6 |
C |
T |
10: 40,947,544 (GRCm39) |
V13M |
possibly damaging |
Het |
Gvin3 |
A |
T |
7: 106,202,476 (GRCm39) |
L256* |
probably null |
Het |
Hectd3 |
A |
G |
4: 116,854,589 (GRCm39) |
H345R |
probably damaging |
Het |
Igfl3 |
A |
T |
7: 17,914,232 (GRCm39) |
K135N |
probably benign |
Het |
Il23r |
A |
G |
6: 67,400,593 (GRCm39) |
L579S |
probably damaging |
Het |
Itsn2 |
A |
C |
12: 4,679,652 (GRCm39) |
M154L |
probably benign |
Het |
Junb |
T |
A |
8: 85,705,039 (GRCm39) |
Q7L |
possibly damaging |
Het |
Kif21b |
T |
A |
1: 136,098,958 (GRCm39) |
H1415Q |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klhdc10 |
T |
G |
6: 30,444,461 (GRCm39) |
F79L |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,603,565 (GRCm39) |
|
probably null |
Het |
Lmbrd2 |
T |
A |
15: 9,182,593 (GRCm39) |
N509K |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,861,337 (GRCm39) |
|
probably null |
Het |
Myo3b |
A |
G |
2: 70,117,306 (GRCm39) |
N913S |
probably benign |
Het |
N4bp2 |
G |
A |
5: 65,960,915 (GRCm39) |
|
probably null |
Het |
Nt5c1a |
A |
G |
4: 123,102,284 (GRCm39) |
E70G |
possibly damaging |
Het |
Or12k5 |
A |
G |
2: 36,894,738 (GRCm39) |
V296A |
probably damaging |
Het |
Papln |
A |
G |
12: 83,831,180 (GRCm39) |
|
probably benign |
Het |
Pcnx3 |
G |
T |
19: 5,736,093 (GRCm39) |
S244R |
probably damaging |
Het |
Pecam1 |
A |
T |
11: 106,573,786 (GRCm39) |
|
probably null |
Het |
Plppr4 |
A |
T |
3: 117,121,921 (GRCm39) |
L219Q |
probably damaging |
Het |
Ppp2r5b |
A |
G |
19: 6,280,935 (GRCm39) |
|
probably null |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rfpl4b |
T |
G |
10: 38,697,530 (GRCm39) |
I24L |
probably benign |
Het |
Serpinb1b |
G |
A |
13: 33,277,637 (GRCm39) |
C290Y |
probably benign |
Het |
Skic3 |
A |
G |
13: 76,259,910 (GRCm39) |
E70G |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,244,925 (GRCm39) |
S3P |
possibly damaging |
Het |
Slc4a11 |
A |
C |
2: 130,529,047 (GRCm39) |
|
probably null |
Het |
Spata31e4 |
T |
C |
13: 50,856,324 (GRCm39) |
L654P |
probably benign |
Het |
Sptb |
A |
G |
12: 76,630,622 (GRCm39) |
Y2231H |
probably damaging |
Het |
Srgap1 |
T |
G |
10: 121,706,244 (GRCm39) |
M221L |
probably benign |
Het |
Srgap3 |
A |
G |
6: 112,716,331 (GRCm39) |
L599P |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,107,561 (GRCm39) |
V1177M |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,157,599 (GRCm39) |
F1303L |
possibly damaging |
Het |
Tbxa2r |
T |
C |
10: 81,170,341 (GRCm39) |
S276P |
possibly damaging |
Het |
Try10 |
A |
T |
6: 41,334,390 (GRCm39) |
D194V |
probably damaging |
Het |
Ttc39c |
T |
C |
18: 12,867,936 (GRCm39) |
|
probably benign |
Het |
Ttc8 |
G |
A |
12: 98,948,780 (GRCm39) |
V489M |
probably benign |
Het |
Unc13b |
G |
T |
4: 43,263,371 (GRCm39) |
R1912L |
probably damaging |
Het |
Unc45b |
T |
A |
11: 82,820,206 (GRCm39) |
|
probably null |
Het |
Usp17lb |
T |
C |
7: 104,490,048 (GRCm39) |
Y292C |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,438,725 (GRCm39) |
D3429G |
probably damaging |
Het |
Usp42 |
A |
G |
5: 143,703,122 (GRCm39) |
S500P |
probably damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,367,838 (GRCm39) |
M385V |
probably benign |
Het |
Vmn2r60 |
G |
A |
7: 41,785,830 (GRCm39) |
W211* |
probably null |
Het |
Vwf |
A |
T |
6: 125,624,701 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,681,918 (GRCm39) |
F3018I |
probably damaging |
Het |
Wwox |
A |
G |
8: 115,174,973 (GRCm39) |
T102A |
probably benign |
Het |
Zfp142 |
A |
C |
1: 74,611,047 (GRCm39) |
L813R |
possibly damaging |
Het |
Zfp407 |
G |
A |
18: 84,372,658 (GRCm39) |
T1670M |
probably damaging |
Het |
Zfp93 |
A |
G |
7: 23,974,282 (GRCm39) |
E89G |
probably benign |
Het |
Zwint |
C |
T |
10: 72,492,127 (GRCm39) |
Q18* |
probably null |
Het |
|
Other mutations in Ralgapb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00094:Ralgapb
|
APN |
2 |
158,262,776 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00534:Ralgapb
|
APN |
2 |
158,272,420 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL01362:Ralgapb
|
APN |
2 |
158,277,385 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01653:Ralgapb
|
APN |
2 |
158,304,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01704:Ralgapb
|
APN |
2 |
158,262,795 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02000:Ralgapb
|
APN |
2 |
158,296,034 (GRCm39) |
splice site |
probably benign |
|
IGL02169:Ralgapb
|
APN |
2 |
158,268,124 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02516:Ralgapb
|
APN |
2 |
158,307,735 (GRCm39) |
splice site |
probably benign |
|
IGL02548:Ralgapb
|
APN |
2 |
158,286,585 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02550:Ralgapb
|
APN |
2 |
158,290,331 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02653:Ralgapb
|
APN |
2 |
158,285,229 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02744:Ralgapb
|
APN |
2 |
158,288,071 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02804:Ralgapb
|
APN |
2 |
158,268,204 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02937:Ralgapb
|
APN |
2 |
158,334,936 (GRCm39) |
splice site |
probably null |
|
IGL02993:Ralgapb
|
APN |
2 |
158,279,314 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03154:Ralgapb
|
APN |
2 |
158,274,786 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03204:Ralgapb
|
APN |
2 |
158,307,832 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL03347:Ralgapb
|
APN |
2 |
158,307,880 (GRCm39) |
missense |
possibly damaging |
0.67 |
Chacha
|
UTSW |
2 |
158,334,372 (GRCm39) |
missense |
probably damaging |
0.99 |
Gato
|
UTSW |
2 |
158,286,540 (GRCm39) |
missense |
probably damaging |
1.00 |
Kibble
|
UTSW |
2 |
158,279,060 (GRCm39) |
missense |
probably damaging |
1.00 |
ralston
|
UTSW |
2 |
158,296,197 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4142001:Ralgapb
|
UTSW |
2 |
158,272,342 (GRCm39) |
missense |
probably benign |
0.34 |
R0037:Ralgapb
|
UTSW |
2 |
158,279,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R0037:Ralgapb
|
UTSW |
2 |
158,279,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R0077:Ralgapb
|
UTSW |
2 |
158,315,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R0581:Ralgapb
|
UTSW |
2 |
158,334,881 (GRCm39) |
missense |
probably benign |
|
R0629:Ralgapb
|
UTSW |
2 |
158,281,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R0839:Ralgapb
|
UTSW |
2 |
158,315,203 (GRCm39) |
critical splice donor site |
probably null |
|
R1331:Ralgapb
|
UTSW |
2 |
158,272,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Ralgapb
|
UTSW |
2 |
158,304,173 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1468:Ralgapb
|
UTSW |
2 |
158,304,173 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1540:Ralgapb
|
UTSW |
2 |
158,307,746 (GRCm39) |
missense |
probably benign |
0.00 |
R1572:Ralgapb
|
UTSW |
2 |
158,288,119 (GRCm39) |
splice site |
probably benign |
|
R1718:Ralgapb
|
UTSW |
2 |
158,285,200 (GRCm39) |
nonsense |
probably null |
|
R1777:Ralgapb
|
UTSW |
2 |
158,304,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Ralgapb
|
UTSW |
2 |
158,334,372 (GRCm39) |
missense |
probably damaging |
0.99 |
R1903:Ralgapb
|
UTSW |
2 |
158,337,483 (GRCm39) |
missense |
probably benign |
0.04 |
R1909:Ralgapb
|
UTSW |
2 |
158,286,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R2157:Ralgapb
|
UTSW |
2 |
158,279,392 (GRCm39) |
missense |
probably benign |
0.15 |
R4524:Ralgapb
|
UTSW |
2 |
158,279,226 (GRCm39) |
missense |
probably benign |
0.00 |
R4946:Ralgapb
|
UTSW |
2 |
158,282,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R4975:Ralgapb
|
UTSW |
2 |
158,277,428 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5014:Ralgapb
|
UTSW |
2 |
158,337,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R5165:Ralgapb
|
UTSW |
2 |
158,307,832 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5465:Ralgapb
|
UTSW |
2 |
158,290,325 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5526:Ralgapb
|
UTSW |
2 |
158,274,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Ralgapb
|
UTSW |
2 |
158,336,630 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5949:Ralgapb
|
UTSW |
2 |
158,296,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R6140:Ralgapb
|
UTSW |
2 |
158,298,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R6175:Ralgapb
|
UTSW |
2 |
158,288,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R6192:Ralgapb
|
UTSW |
2 |
158,291,367 (GRCm39) |
splice site |
probably null |
|
R6364:Ralgapb
|
UTSW |
2 |
158,304,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R6458:Ralgapb
|
UTSW |
2 |
158,286,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R6746:Ralgapb
|
UTSW |
2 |
158,318,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R6782:Ralgapb
|
UTSW |
2 |
158,278,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R6788:Ralgapb
|
UTSW |
2 |
158,278,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R7017:Ralgapb
|
UTSW |
2 |
158,290,257 (GRCm39) |
missense |
probably benign |
0.19 |
R7108:Ralgapb
|
UTSW |
2 |
158,336,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R7108:Ralgapb
|
UTSW |
2 |
158,334,380 (GRCm39) |
missense |
probably damaging |
0.98 |
R7236:Ralgapb
|
UTSW |
2 |
158,282,747 (GRCm39) |
missense |
probably benign |
0.34 |
R7454:Ralgapb
|
UTSW |
2 |
158,274,822 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7485:Ralgapb
|
UTSW |
2 |
158,285,275 (GRCm39) |
missense |
probably benign |
0.35 |
R7595:Ralgapb
|
UTSW |
2 |
158,268,085 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7615:Ralgapb
|
UTSW |
2 |
158,292,190 (GRCm39) |
missense |
probably damaging |
0.99 |
R7728:Ralgapb
|
UTSW |
2 |
158,324,423 (GRCm39) |
critical splice donor site |
probably null |
|
R7913:Ralgapb
|
UTSW |
2 |
158,307,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R7953:Ralgapb
|
UTSW |
2 |
158,307,803 (GRCm39) |
missense |
probably benign |
0.10 |
R8245:Ralgapb
|
UTSW |
2 |
158,285,256 (GRCm39) |
missense |
probably damaging |
0.96 |
R8337:Ralgapb
|
UTSW |
2 |
158,292,192 (GRCm39) |
missense |
probably benign |
0.11 |
R8363:Ralgapb
|
UTSW |
2 |
158,268,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R8429:Ralgapb
|
UTSW |
2 |
158,268,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R8673:Ralgapb
|
UTSW |
2 |
158,292,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R8955:Ralgapb
|
UTSW |
2 |
158,337,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R8955:Ralgapb
|
UTSW |
2 |
158,279,264 (GRCm39) |
missense |
probably benign |
0.05 |
R8992:Ralgapb
|
UTSW |
2 |
158,296,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R9013:Ralgapb
|
UTSW |
2 |
158,279,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R9141:Ralgapb
|
UTSW |
2 |
158,262,811 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9166:Ralgapb
|
UTSW |
2 |
158,274,842 (GRCm39) |
critical splice donor site |
probably null |
|
R9242:Ralgapb
|
UTSW |
2 |
158,277,386 (GRCm39) |
missense |
probably benign |
0.13 |
R9274:Ralgapb
|
UTSW |
2 |
158,278,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R9354:Ralgapb
|
UTSW |
2 |
158,279,313 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9454:Ralgapb
|
UTSW |
2 |
158,315,072 (GRCm39) |
missense |
probably benign |
0.30 |
R9489:Ralgapb
|
UTSW |
2 |
158,268,283 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9490:Ralgapb
|
UTSW |
2 |
158,334,350 (GRCm39) |
missense |
probably benign |
0.29 |
R9510:Ralgapb
|
UTSW |
2 |
158,285,856 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Ralgapb
|
UTSW |
2 |
158,277,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTGTCACTGGACCACTGTTCTAC -3'
(R):5'- accacccccaacCCATGTTGTATC -3'
Sequencing Primer
(F):5'- CTGGACCACTGTTCTACATCAGTAAG -3'
(R):5'- cccaacCCATGTTGTATCTTTCC -3'
|
Posted On |
2014-04-24 |