Incidental Mutation 'R6192:Ralgapb'
ID |
502623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ralgapb
|
Ensembl Gene |
ENSMUSG00000027652 |
Gene Name |
Ral GTPase activating protein, beta subunit (non-catalytic) |
Synonyms |
B230339M05Rik |
MMRRC Submission |
044332-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6192 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158251768-158341173 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 158291367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046274]
[ENSMUST00000109485]
[ENSMUST00000109486]
[ENSMUST00000141497]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000046274
|
SMART Domains |
Protein: ENSMUSP00000048430 Gene: ENSMUSG00000027652
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 null
Transcript: ENSMUST00000109485
|
SMART Domains |
Protein: ENSMUSP00000105111 Gene: ENSMUSG00000027652
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 null
Transcript: ENSMUST00000109486
|
SMART Domains |
Protein: ENSMUSP00000105112 Gene: ENSMUSG00000027652
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 |
probably null
Transcript: ENSMUST00000141497
|
SMART Domains |
Protein: ENSMUSP00000116481 Gene: ENSMUSG00000027652
Domain | Start | End | E-Value | Type |
low complexity region
|
288 |
303 |
N/A |
INTRINSIC |
low complexity region
|
457 |
470 |
N/A |
INTRINSIC |
low complexity region
|
592 |
602 |
N/A |
INTRINSIC |
low complexity region
|
768 |
779 |
N/A |
INTRINSIC |
low complexity region
|
991 |
1003 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,774,002 (GRCm39) |
E1137G |
probably damaging |
Het |
Adcy9 |
T |
C |
16: 4,105,818 (GRCm39) |
I1099V |
probably benign |
Het |
Angptl4 |
A |
T |
17: 33,996,015 (GRCm39) |
N320K |
probably benign |
Het |
Atp6v0a2 |
G |
A |
5: 124,767,268 (GRCm39) |
M10I |
probably benign |
Het |
Bltp1 |
C |
T |
3: 37,042,318 (GRCm39) |
T2768I |
probably benign |
Het |
Cbfa2t3 |
A |
G |
8: 123,361,135 (GRCm39) |
S395P |
probably benign |
Het |
Cenpe |
C |
T |
3: 134,954,291 (GRCm39) |
T1716I |
possibly damaging |
Het |
Chsy1 |
T |
C |
7: 65,820,625 (GRCm39) |
Y287H |
probably benign |
Het |
Col4a4 |
G |
T |
1: 82,462,151 (GRCm39) |
P1075T |
probably damaging |
Het |
Cryab |
T |
A |
9: 50,665,813 (GRCm39) |
M68K |
probably damaging |
Het |
Cybrd1 |
T |
A |
2: 70,967,858 (GRCm39) |
L143Q |
probably null |
Het |
Dcaf7 |
T |
C |
11: 105,942,584 (GRCm39) |
V177A |
probably damaging |
Het |
Dclk2 |
T |
C |
3: 86,722,457 (GRCm39) |
Y392C |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,586,036 (GRCm39) |
T770A |
probably benign |
Het |
Dennd1b |
T |
A |
1: 139,095,456 (GRCm39) |
D501E |
probably benign |
Het |
Dgkh |
A |
T |
14: 78,865,504 (GRCm39) |
Y26* |
probably null |
Het |
Dnajc2 |
A |
G |
5: 21,973,646 (GRCm39) |
V196A |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,806,362 (GRCm39) |
K827E |
probably damaging |
Het |
Fam8a1 |
C |
T |
13: 46,823,099 (GRCm39) |
P13L |
probably damaging |
Het |
Gfra3 |
T |
C |
18: 34,837,582 (GRCm39) |
S139G |
possibly damaging |
Het |
Ggnbp1 |
G |
A |
17: 27,248,847 (GRCm39) |
V139I |
possibly damaging |
Het |
Gja1 |
T |
A |
10: 56,264,330 (GRCm39) |
Y230N |
probably damaging |
Het |
Gldc |
A |
G |
19: 30,111,172 (GRCm39) |
S535P |
probably damaging |
Het |
Gm45871 |
A |
G |
18: 90,610,357 (GRCm39) |
T532A |
probably benign |
Het |
Gm5431 |
T |
A |
11: 48,785,220 (GRCm39) |
D107V |
probably benign |
Het |
Herc2 |
C |
T |
7: 55,857,510 (GRCm39) |
T4031M |
probably damaging |
Het |
Iffo2 |
G |
A |
4: 139,333,769 (GRCm39) |
A282T |
probably damaging |
Het |
Ifi44 |
T |
G |
3: 151,451,276 (GRCm39) |
|
probably null |
Het |
Igkv4-53 |
C |
T |
6: 69,625,915 (GRCm39) |
R62H |
possibly damaging |
Het |
Lrp11 |
A |
C |
10: 7,474,454 (GRCm39) |
|
probably null |
Het |
Lrp4 |
A |
G |
2: 91,338,833 (GRCm39) |
T1755A |
probably benign |
Het |
Mcm3ap |
A |
T |
10: 76,336,934 (GRCm39) |
K1316M |
probably damaging |
Het |
Mctp1 |
T |
G |
13: 76,971,082 (GRCm39) |
|
probably null |
Het |
Mroh5 |
A |
T |
15: 73,662,630 (GRCm39) |
I396N |
probably damaging |
Het |
Mrps5 |
T |
A |
2: 127,443,305 (GRCm39) |
H294Q |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,569,985 (GRCm39) |
S845T |
unknown |
Het |
Mycbpap |
A |
T |
11: 94,398,557 (GRCm39) |
V474E |
probably damaging |
Het |
Mzt2 |
G |
C |
16: 15,666,551 (GRCm39) |
S122W |
probably benign |
Het |
Neb |
T |
C |
2: 52,146,802 (GRCm39) |
I2821V |
probably benign |
Het |
Ngef |
A |
T |
1: 87,415,622 (GRCm39) |
D347E |
probably damaging |
Het |
Nlrp14 |
T |
C |
7: 106,781,646 (GRCm39) |
V281A |
probably benign |
Het |
Obscn |
A |
T |
11: 58,888,864 (GRCm39) |
Y7597N |
unknown |
Het |
Or4k47 |
T |
C |
2: 111,451,520 (GRCm39) |
R300G |
possibly damaging |
Het |
Patj |
G |
T |
4: 98,344,394 (GRCm39) |
G569W |
probably damaging |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Phf2 |
T |
A |
13: 48,973,583 (GRCm39) |
T361S |
unknown |
Het |
Pik3r6 |
A |
G |
11: 68,434,455 (GRCm39) |
E552G |
probably damaging |
Het |
Pitx2 |
A |
G |
3: 129,009,521 (GRCm39) |
T147A |
probably benign |
Het |
Pkmyt1 |
G |
A |
17: 23,953,167 (GRCm39) |
G241D |
probably damaging |
Het |
Pola2 |
A |
T |
19: 6,003,802 (GRCm39) |
V191D |
possibly damaging |
Het |
Rapgef4 |
T |
C |
2: 71,811,661 (GRCm39) |
S11P |
probably benign |
Het |
Rnf10 |
G |
A |
5: 115,395,136 (GRCm39) |
R151C |
probably damaging |
Het |
Rpl34 |
G |
A |
3: 130,522,716 (GRCm39) |
P50L |
probably benign |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Sbno2 |
A |
T |
10: 79,895,850 (GRCm39) |
L977Q |
probably damaging |
Het |
Sec14l3 |
G |
A |
11: 4,025,566 (GRCm39) |
|
probably null |
Het |
Serping1 |
A |
T |
2: 84,600,612 (GRCm39) |
N243K |
possibly damaging |
Het |
Slco2b1 |
T |
A |
7: 99,334,779 (GRCm39) |
I231F |
probably damaging |
Het |
Spag8 |
A |
G |
4: 43,652,458 (GRCm39) |
F294S |
probably damaging |
Het |
Speer4f1 |
G |
A |
5: 17,684,493 (GRCm39) |
A174T |
probably damaging |
Het |
Spred3 |
T |
C |
7: 28,862,402 (GRCm39) |
D147G |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,527,241 (GRCm39) |
D1166G |
probably damaging |
Het |
Svep1 |
G |
T |
4: 58,104,536 (GRCm39) |
T1229K |
possibly damaging |
Het |
Tanc1 |
T |
A |
2: 59,669,305 (GRCm39) |
|
probably null |
Het |
Tmem232 |
T |
C |
17: 65,737,800 (GRCm39) |
Y420C |
probably damaging |
Het |
Tubd1 |
A |
T |
11: 86,448,619 (GRCm39) |
M311L |
probably benign |
Het |
Tulp3 |
G |
A |
6: 128,332,703 (GRCm39) |
|
probably null |
Het |
Usp42 |
T |
C |
5: 143,702,942 (GRCm39) |
T560A |
possibly damaging |
Het |
Vmn1r170 |
A |
T |
7: 23,305,934 (GRCm39) |
Y112F |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,322,699 (GRCm39) |
C7S |
probably benign |
Het |
Wrn |
A |
G |
8: 33,774,682 (GRCm39) |
M652T |
probably benign |
Het |
Wsb1 |
G |
A |
11: 79,139,336 (GRCm39) |
P120L |
possibly damaging |
Het |
Zfp142 |
T |
C |
1: 74,609,667 (GRCm39) |
E1376G |
probably damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
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 |
|
R1628:Ralgapb
|
UTSW |
2 |
158,272,383 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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'- TAGGTTGAAGTTCTCTTTCTCGTAC -3'
(R):5'- TGCAATGCCTTTTCAAACCC -3'
Sequencing Primer
(F):5'- GTTCTCTTTCTCGTACTTTCTAAGAC -3'
(R):5'- ACCACTACTTCCATACCTTTATGAAG -3'
|
Posted On |
2018-02-27 |