Incidental Mutation 'R7236:Ralgapb'
ID |
562804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ralgapb
|
Ensembl Gene |
ENSMUSG00000027652 |
Gene Name |
Ral GTPase activating protein, beta subunit (non-catalytic) |
Synonyms |
B230339M05Rik |
MMRRC Submission |
045306-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7236 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
158251768-158341173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 158282747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 504
(D504G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046274]
[ENSMUST00000109485]
[ENSMUST00000109486]
[ENSMUST00000141497]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046274
AA Change: D492G
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000048430 Gene: ENSMUSG00000027652 AA Change: D492G
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: D504G
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105111 Gene: ENSMUSG00000027652 AA Change: D504G
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: D492G
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105112 Gene: ENSMUSG00000027652 AA Change: D492G
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 benign
Transcript: ENSMUST00000141497
AA Change: D192G
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000116481 Gene: ENSMUSG00000027652 AA Change: D192G
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 |
0.0740 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
C |
T |
19: 4,921,644 (GRCm39) |
V179I |
probably benign |
Het |
Adra1b |
A |
G |
11: 43,667,151 (GRCm39) |
I362T |
possibly damaging |
Het |
B3galnt1 |
T |
C |
3: 69,482,950 (GRCm39) |
K104E |
probably benign |
Het |
Bnc2 |
T |
C |
4: 84,474,101 (GRCm39) |
Y15C |
probably benign |
Het |
C2cd2l |
C |
A |
9: 44,228,960 (GRCm39) |
A124S |
possibly damaging |
Het |
Camsap3 |
T |
A |
8: 3,654,116 (GRCm39) |
F595L |
probably damaging |
Het |
Cct2 |
A |
T |
10: 116,897,464 (GRCm39) |
D93E |
probably benign |
Het |
Cd200l2 |
A |
T |
16: 45,348,030 (GRCm39) |
I169N |
possibly damaging |
Het |
Cemip |
A |
T |
7: 83,598,012 (GRCm39) |
|
probably null |
Het |
Ciapin1 |
T |
C |
8: 95,550,338 (GRCm39) |
T34A |
|
Het |
Dop1a |
G |
A |
9: 86,397,431 (GRCm39) |
V912I |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,790,093 (GRCm39) |
Q2832L |
probably benign |
Het |
Eif3c |
T |
C |
7: 126,151,495 (GRCm39) |
T610A |
possibly damaging |
Het |
Ephb3 |
A |
G |
16: 21,033,231 (GRCm39) |
R106G |
probably damaging |
Het |
Ephx3 |
T |
A |
17: 32,404,328 (GRCm39) |
|
probably null |
Het |
Etv2 |
A |
T |
7: 30,334,455 (GRCm39) |
S93T |
probably benign |
Het |
Fbxo34 |
T |
A |
14: 47,767,841 (GRCm39) |
D451E |
probably benign |
Het |
Fmo9 |
A |
G |
1: 166,504,140 (GRCm39) |
F141L |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,265,821 (GRCm39) |
K500R |
possibly damaging |
Het |
Gfra3 |
T |
C |
18: 34,828,884 (GRCm39) |
D170G |
probably damaging |
Het |
Gnptg |
T |
C |
17: 25,458,897 (GRCm39) |
N34S |
possibly damaging |
Het |
Golga5 |
T |
A |
12: 102,441,034 (GRCm39) |
|
probably null |
Het |
Herc2 |
G |
T |
7: 55,734,828 (GRCm39) |
L139F |
probably benign |
Het |
Ikzf2 |
T |
A |
1: 69,578,240 (GRCm39) |
N423I |
probably benign |
Het |
Il31ra |
A |
T |
13: 112,660,439 (GRCm39) |
*717R |
probably null |
Het |
Itga2 |
G |
T |
13: 115,014,227 (GRCm39) |
Q234K |
probably benign |
Het |
Kcnt1 |
A |
T |
2: 25,799,951 (GRCm39) |
|
probably null |
Het |
Kif19b |
G |
T |
5: 140,457,400 (GRCm39) |
A390S |
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,018,653 (GRCm39) |
S69G |
probably damaging |
Het |
Mccc1 |
A |
G |
3: 36,037,944 (GRCm39) |
V294A |
probably benign |
Het |
Mphosph8 |
T |
A |
14: 56,911,754 (GRCm39) |
I259K |
possibly damaging |
Het |
Mrpl15 |
A |
T |
1: 4,846,711 (GRCm39) |
N288K |
probably benign |
Het |
Msantd2 |
T |
C |
9: 37,400,965 (GRCm39) |
W116R |
probably damaging |
Het |
Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,963,932 (GRCm39) |
|
probably benign |
Het |
Mylk |
A |
T |
16: 34,742,899 (GRCm39) |
D1137V |
probably damaging |
Het |
Nhsl1 |
A |
G |
10: 18,401,512 (GRCm39) |
K879E |
probably damaging |
Het |
Or8j3c |
A |
T |
2: 86,253,533 (GRCm39) |
C162* |
probably null |
Het |
Pak6 |
A |
G |
2: 118,523,909 (GRCm39) |
T355A |
probably benign |
Het |
Patj |
C |
T |
4: 98,299,294 (GRCm39) |
R139C |
probably damaging |
Het |
Pcdhb3 |
C |
T |
18: 37,434,505 (GRCm39) |
A157V |
probably damaging |
Het |
Phkg1 |
C |
A |
5: 129,895,802 (GRCm39) |
D150Y |
probably damaging |
Het |
Ppp2r5c |
C |
T |
12: 110,432,323 (GRCm39) |
S45L |
probably benign |
Het |
Prl4a1 |
A |
C |
13: 28,202,556 (GRCm39) |
T44P |
probably benign |
Het |
Ptpro |
G |
A |
6: 137,345,335 (GRCm39) |
V114M |
probably damaging |
Het |
Pwp1 |
A |
G |
10: 85,715,147 (GRCm39) |
N211S |
probably benign |
Het |
Rock2 |
A |
T |
12: 16,979,003 (GRCm39) |
I98F |
probably damaging |
Het |
Senp6 |
G |
T |
9: 80,040,247 (GRCm39) |
V785L |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,672,609 (GRCm39) |
D319G |
probably benign |
Het |
Tas2r105 |
A |
T |
6: 131,663,723 (GRCm39) |
I235N |
probably damaging |
Het |
Tas2r110 |
A |
T |
6: 132,845,667 (GRCm39) |
M233L |
possibly damaging |
Het |
Tmem260 |
C |
T |
14: 48,746,647 (GRCm39) |
|
probably null |
Het |
Trank1 |
G |
T |
9: 111,202,142 (GRCm39) |
V1590L |
possibly damaging |
Het |
Tsc2 |
A |
T |
17: 24,842,568 (GRCm39) |
M286K |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,697,796 (GRCm39) |
T202A |
|
Het |
Ttyh1 |
A |
G |
7: 4,136,663 (GRCm39) |
N424D |
probably benign |
Het |
Usp24 |
T |
A |
4: 106,263,502 (GRCm39) |
|
probably null |
Het |
Utp20 |
G |
T |
10: 88,585,204 (GRCm39) |
P2620Q |
probably benign |
Het |
Vmn1r45 |
A |
G |
6: 89,910,133 (GRCm39) |
M279T |
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,578,576 (GRCm39) |
I683K |
probably benign |
Het |
Vmn2r34 |
T |
C |
7: 7,684,750 (GRCm39) |
K481E |
probably damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,365,917 (GRCm39) |
H339L |
possibly damaging |
Het |
Vmn2r94 |
T |
A |
17: 18,477,811 (GRCm39) |
N200I |
possibly damaging |
Het |
Wdfy3 |
A |
G |
5: 101,984,074 (GRCm39) |
Y3493H |
probably damaging |
Het |
Wdr5b |
A |
G |
16: 35,862,208 (GRCm39) |
D109G |
possibly damaging |
Het |
Zfp286 |
A |
T |
11: 62,674,496 (GRCm39) |
|
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 |
|
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 |
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 |
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'- TTCAAAGAAGATATCAGAGAGCCC -3'
(R):5'- TGGCTTATTGATTTAGCCATGCC -3'
Sequencing Primer
(F):5'- ATGACATAGTTGCTAACCAAAGC -3'
(R):5'- GCCATGCCACAATAGTATTTTACC -3'
|
Posted On |
2019-06-26 |