Incidental Mutation 'R6788:Ralgapb'
ID |
532472 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ralgapb
|
Ensembl Gene |
ENSMUSG00000027652 |
Gene Name |
Ral GTPase activating protein, beta subunit (non-catalytic) |
Synonyms |
B230339M05Rik |
MMRRC Submission |
044902-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6788 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158251768-158341173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 158278486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 5
(G5R)
|
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 damaging
Transcript: ENSMUST00000046274
AA Change: G317R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000048430 Gene: ENSMUSG00000027652 AA Change: G317R
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 damaging
Transcript: ENSMUST00000109485
AA Change: G317R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105111 Gene: ENSMUSG00000027652 AA Change: G317R
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 damaging
Transcript: ENSMUST00000109486
AA Change: G317R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105112 Gene: ENSMUSG00000027652 AA Change: G317R
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 damaging
Transcript: ENSMUST00000141497
AA Change: G5R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116481 Gene: ENSMUSG00000027652 AA Change: G5R
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 |
|
Meta Mutation Damage Score |
0.0828 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.4%
|
Validation Efficiency |
97% (68/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
T |
1: 179,580,199 (GRCm39) |
V2001E |
probably benign |
Het |
Ahsg |
A |
G |
16: 22,713,585 (GRCm39) |
D122G |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,840,553 (GRCm39) |
Y1616C |
probably damaging |
Het |
Arhgef1 |
A |
G |
7: 24,619,205 (GRCm39) |
|
probably null |
Het |
Atp7b |
T |
C |
8: 22,494,391 (GRCm39) |
I1023V |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,979,216 (GRCm39) |
Y699* |
probably null |
Het |
Car12 |
C |
T |
9: 66,659,244 (GRCm39) |
S183L |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,324,490 (GRCm39) |
S57P |
probably damaging |
Het |
Cep57l1 |
T |
C |
10: 41,619,145 (GRCm39) |
D74G |
probably damaging |
Het |
Cers6 |
T |
C |
2: 68,938,903 (GRCm39) |
Y374H |
possibly damaging |
Het |
Chmp4c |
T |
A |
3: 10,432,195 (GRCm39) |
M35K |
possibly damaging |
Het |
Crkl |
G |
A |
16: 17,301,645 (GRCm39) |
D300N |
probably damaging |
Het |
Cyp3a41a |
A |
G |
5: 145,642,639 (GRCm39) |
M240T |
probably benign |
Het |
Dipk2a |
C |
T |
9: 94,406,502 (GRCm39) |
V302I |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,523,470 (GRCm39) |
L1986F |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,867,439 (GRCm39) |
I297T |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,508,962 (GRCm39) |
I1610F |
probably damaging |
Het |
Dpys |
T |
A |
15: 39,720,559 (GRCm39) |
H67L |
probably damaging |
Het |
Epc2 |
T |
G |
2: 49,422,099 (GRCm39) |
V331G |
probably benign |
Het |
Fnbp1l |
G |
A |
3: 122,339,956 (GRCm39) |
R344* |
probably null |
Het |
Gmip |
G |
T |
8: 70,263,824 (GRCm39) |
L89F |
possibly damaging |
Het |
Gmip |
G |
C |
8: 70,263,826 (GRCm39) |
R90P |
probably damaging |
Het |
Gpi1 |
A |
G |
7: 33,928,415 (GRCm39) |
S74P |
probably damaging |
Het |
Gys1 |
G |
A |
7: 45,094,102 (GRCm39) |
E406K |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
Klhl29 |
C |
T |
12: 5,134,393 (GRCm39) |
V673M |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,360,020 (GRCm39) |
T332A |
probably benign |
Het |
Loxl4 |
T |
C |
19: 42,596,792 (GRCm39) |
D60G |
probably damaging |
Het |
Lrr1 |
T |
C |
12: 69,221,449 (GRCm39) |
I197T |
probably damaging |
Het |
Map1lc3b |
A |
G |
8: 122,320,316 (GRCm39) |
N43S |
probably benign |
Het |
Map3k21 |
A |
T |
8: 126,666,605 (GRCm39) |
D599V |
probably benign |
Het |
Mastl |
T |
C |
2: 23,023,710 (GRCm39) |
N338D |
probably benign |
Het |
Mepe |
A |
T |
5: 104,486,074 (GRCm39) |
R405* |
probably null |
Het |
Mrps30 |
T |
C |
13: 118,516,908 (GRCm39) |
E437G |
probably benign |
Het |
Mup15 |
A |
G |
4: 61,356,465 (GRCm39) |
V100A |
possibly damaging |
Het |
Olfml1 |
A |
T |
7: 107,167,075 (GRCm39) |
I35F |
probably damaging |
Het |
Olfml2a |
T |
A |
2: 38,850,238 (GRCm39) |
Y651* |
probably null |
Het |
Or2h1b |
T |
A |
17: 37,462,713 (GRCm39) |
D50V |
probably damaging |
Het |
Otog |
T |
C |
7: 45,947,741 (GRCm39) |
V113A |
probably damaging |
Het |
Parvg |
C |
T |
15: 84,210,464 (GRCm39) |
L44F |
possibly damaging |
Het |
Pcnx2 |
G |
T |
8: 126,498,839 (GRCm39) |
D1553E |
probably damaging |
Het |
Pcyt2 |
C |
T |
11: 120,505,200 (GRCm39) |
G122S |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Polq |
C |
T |
16: 36,897,510 (GRCm39) |
T2134I |
probably damaging |
Het |
Prkce |
T |
G |
17: 86,937,489 (GRCm39) |
F641V |
probably damaging |
Het |
Prss1 |
T |
C |
6: 41,440,654 (GRCm39) |
I243T |
possibly damaging |
Het |
Pxmp2 |
A |
G |
5: 110,429,185 (GRCm39) |
F91L |
probably benign |
Het |
Rasgef1a |
T |
G |
6: 118,064,174 (GRCm39) |
M337R |
possibly damaging |
Het |
Rassf2 |
A |
G |
2: 131,844,845 (GRCm39) |
M199T |
probably damaging |
Het |
Rtbdn |
A |
T |
8: 85,679,303 (GRCm39) |
Y67F |
probably null |
Het |
Scamp3 |
T |
C |
3: 89,089,256 (GRCm39) |
V271A |
probably benign |
Het |
Sema3a |
A |
T |
5: 13,647,584 (GRCm39) |
R613W |
possibly damaging |
Het |
Slc4a3 |
A |
T |
1: 75,527,959 (GRCm39) |
I206F |
probably damaging |
Het |
Slc9b1 |
A |
G |
3: 135,063,518 (GRCm39) |
|
probably null |
Het |
Smchd1 |
C |
A |
17: 71,782,096 (GRCm39) |
V22F |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,783,794 (GRCm39) |
|
probably benign |
Het |
Spaca7b |
T |
C |
8: 11,728,584 (GRCm39) |
E29G |
possibly damaging |
Het |
Spata31e4 |
A |
C |
13: 50,857,131 (GRCm39) |
H923P |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,861,117 (GRCm39) |
L89P |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,076,498 (GRCm39) |
E152G |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 49,127,528 (GRCm39) |
F50S |
probably damaging |
Het |
Tpgs2 |
T |
G |
18: 25,262,927 (GRCm39) |
N231H |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,219,747 (GRCm39) |
N2161K |
probably damaging |
Het |
Trim28 |
A |
G |
7: 12,759,273 (GRCm39) |
D129G |
probably benign |
Het |
Trim66 |
A |
T |
7: 109,076,961 (GRCm39) |
I326N |
probably damaging |
Het |
Trim80 |
A |
T |
11: 115,338,843 (GRCm39) |
T558S |
probably benign |
Het |
Uggt1 |
T |
A |
1: 36,269,769 (GRCm39) |
T83S |
probably benign |
Het |
Wdr91 |
A |
G |
6: 34,863,754 (GRCm39) |
I587T |
probably damaging |
Het |
Zpld1 |
A |
T |
16: 55,052,603 (GRCm39) |
V337D |
possibly damaging |
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 |
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 |
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'- CCTACCATCAGGAGTAGTCTTAATTC -3'
(R):5'- GGTCATTATTTGCCACCAAGTCTG -3'
Sequencing Primer
(F):5'- CTCAGCTGTTAAGAGCACTGACTG -3'
(R):5'- TGGCTTCCCCCTAGAATCCAAC -3'
|
Posted On |
2018-08-29 |