Incidental Mutation 'IGL02516:Ralgapb'
| ID |
296804 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ralgapb
|
| Ensembl Gene |
ENSMUSG00000027652 |
| Gene Name |
Ral GTPase activating protein, beta subunit (non-catalytic) |
| Synonyms |
B230339M05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
158251768-158341173 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 158307735 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 benign
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 benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000122256
|
| Predicted Effect |
probably benign
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150420
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
C |
T |
8: 25,388,612 (GRCm39) |
S364N |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,937,721 (GRCm39) |
G47D |
probably damaging |
Het |
| App |
T |
C |
16: 84,752,305 (GRCm39) |
T743A |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,305,317 (GRCm39) |
K692E |
possibly damaging |
Het |
| Arpp21 |
T |
C |
9: 112,014,729 (GRCm39) |
N25S |
probably damaging |
Het |
| Avpr1b |
G |
A |
1: 131,528,367 (GRCm39) |
V297I |
probably damaging |
Het |
| Bpi |
A |
G |
2: 158,109,651 (GRCm39) |
I200V |
possibly damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,248,831 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,971,379 (GRCm39) |
Y149H |
probably damaging |
Het |
| Ccdc85c |
T |
C |
12: 108,241,160 (GRCm39) |
N78S |
unknown |
Het |
| Cdcp1 |
G |
T |
9: 123,002,702 (GRCm39) |
L790M |
possibly damaging |
Het |
| Cdkn2d |
T |
A |
9: 21,200,439 (GRCm39) |
I111F |
probably benign |
Het |
| Ctsr |
A |
G |
13: 61,310,992 (GRCm39) |
V18A |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,844,161 (GRCm39) |
D60G |
probably damaging |
Het |
| Daw1 |
A |
C |
1: 83,186,949 (GRCm39) |
N253T |
probably benign |
Het |
| Dcaf7 |
T |
A |
11: 105,942,698 (GRCm39) |
I215N |
probably damaging |
Het |
| Ddc |
A |
C |
11: 11,779,125 (GRCm39) |
L333R |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,742,406 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
C |
A |
5: 124,864,395 (GRCm39) |
T2200K |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,713,881 (GRCm39) |
Y1883C |
probably damaging |
Het |
| Ecpas |
T |
C |
4: 58,877,102 (GRCm39) |
E111G |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,266,735 (GRCm39) |
I752N |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,866,720 (GRCm39) |
I740T |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,450,840 (GRCm39) |
D1496G |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,676,482 (GRCm39) |
V583A |
possibly damaging |
Het |
| Greb1l |
A |
C |
18: 10,537,064 (GRCm39) |
T1010P |
probably benign |
Het |
| Hs3st6 |
T |
C |
17: 24,977,105 (GRCm39) |
L195P |
probably damaging |
Het |
| Hyi |
A |
G |
4: 118,219,680 (GRCm39) |
E239G |
probably damaging |
Het |
| Ighv2-3 |
G |
T |
12: 113,574,818 (GRCm39) |
Y112* |
probably null |
Het |
| Ints3 |
A |
G |
3: 90,310,415 (GRCm39) |
F495S |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,102,728 (GRCm39) |
H802L |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,874,186 (GRCm39) |
V990M |
probably damaging |
Het |
| Kat6b |
T |
C |
14: 21,659,936 (GRCm39) |
|
probably benign |
Het |
| Krtap4-8 |
C |
T |
11: 99,671,168 (GRCm39) |
|
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,578,003 (GRCm39) |
S380P |
probably damaging |
Het |
| Morn3 |
C |
A |
5: 123,175,363 (GRCm39) |
E33* |
probably null |
Het |
| Mug2 |
C |
T |
6: 122,047,802 (GRCm39) |
A771V |
probably damaging |
Het |
| N4bp3 |
A |
T |
11: 51,535,161 (GRCm39) |
S343T |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,005,286 (GRCm39) |
N643S |
probably damaging |
Het |
| Or2c1 |
A |
C |
16: 3,657,200 (GRCm39) |
D121A |
probably damaging |
Het |
| Or2h1b |
T |
A |
17: 37,462,163 (GRCm39) |
R79S |
possibly damaging |
Het |
| Or6c8 |
T |
A |
10: 128,915,662 (GRCm39) |
M57L |
possibly damaging |
Het |
| Phc3 |
A |
G |
3: 31,002,942 (GRCm39) |
F192S |
probably damaging |
Het |
| Pigq |
C |
T |
17: 26,156,221 (GRCm39) |
R69H |
probably benign |
Het |
| Plk3 |
A |
G |
4: 116,989,186 (GRCm39) |
C222R |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,166,420 (GRCm39) |
T490A |
probably benign |
Het |
| Prss29 |
T |
C |
17: 25,539,875 (GRCm39) |
I91T |
probably damaging |
Het |
| Sccpdh |
G |
A |
1: 179,509,256 (GRCm39) |
G75D |
probably damaging |
Het |
| Serpine2 |
T |
C |
1: 79,772,714 (GRCm39) |
|
probably benign |
Het |
| Sfr1 |
T |
G |
19: 47,721,429 (GRCm39) |
|
probably null |
Het |
| Slc22a23 |
C |
A |
13: 34,387,938 (GRCm39) |
C386F |
probably benign |
Het |
| Slc22a27 |
T |
C |
19: 7,842,176 (GRCm39) |
K433R |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,405,146 (GRCm39) |
L246P |
probably damaging |
Het |
| Slc4a11 |
A |
G |
2: 130,533,313 (GRCm39) |
I191T |
possibly damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,398,238 (GRCm39) |
N668D |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,421,421 (GRCm39) |
D41E |
possibly damaging |
Het |
| Tamalin |
G |
A |
15: 101,126,932 (GRCm39) |
V137I |
probably damaging |
Het |
| Ugt2b37 |
A |
G |
5: 87,388,741 (GRCm39) |
S491P |
probably damaging |
Het |
| Urb1 |
G |
T |
16: 90,569,583 (GRCm39) |
T1381N |
possibly damaging |
Het |
| Usp8 |
A |
G |
2: 126,584,094 (GRCm39) |
I423M |
probably benign |
Het |
| Vmn1r191 |
T |
A |
13: 22,363,710 (GRCm39) |
I15F |
probably benign |
Het |
| Zbtb5 |
A |
T |
4: 44,993,798 (GRCm39) |
Y529N |
probably damaging |
Het |
| Zfp541 |
T |
A |
7: 15,816,918 (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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation