Incidental Mutation 'R8084:Rabgap1'
| ID |
629497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1
|
| Ensembl Gene |
ENSMUSG00000035437 |
| Gene Name |
RAB GTPase activating protein 1 |
| Synonyms |
Gapcena |
| MMRRC Submission |
067517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R8084 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37427317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 633
(Y633H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000183690]
|
| AlphaFold |
A2AWA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061179
AA Change: Y633H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: Y633H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
PTB
|
138 |
271 |
2.99e-30 |
SMART |
|
Pfam:DUF3694
|
301 |
433 |
1.1e-38 |
PFAM |
|
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
TBC
|
558 |
770 |
9.27e-74 |
SMART |
|
Blast:TBC
|
803 |
880 |
9e-33 |
BLAST |
|
coiled coil region
|
986 |
1038 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066055
AA Change: Y633H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: Y633H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
PTB
|
138 |
271 |
2.99e-30 |
SMART |
|
Pfam:DUF3694
|
301 |
433 |
7.1e-39 |
PFAM |
|
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
TBC
|
558 |
770 |
9.27e-74 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112920
AA Change: Y633H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: Y633H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
PTB
|
138 |
271 |
2.99e-30 |
SMART |
|
Pfam:DUF3694
|
301 |
432 |
1.6e-35 |
PFAM |
|
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
TBC
|
558 |
770 |
9.27e-74 |
SMART |
|
Blast:TBC
|
803 |
880 |
9e-33 |
BLAST |
|
coiled coil region
|
986 |
1038 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183690
|
| SMART Domains |
Protein: ENSMUSP00000139145
Gene: ENSMUSG00000026915
| Domain | Start | End | E-Value | Type |
|---|
|
DZF
|
81 |
334 |
2.45e-168 |
SMART |
|
DSRM
|
388 |
452 |
3.11e-16 |
SMART |
|
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
|
DSRM
|
511 |
575 |
1.2e-22 |
SMART |
|
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.2%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
A |
2: 25,323,979 (GRCm39) |
Y190N |
probably benign |
Het |
| Acsl3 |
G |
A |
1: 78,669,844 (GRCm39) |
D238N |
probably damaging |
Het |
| Acss1 |
T |
A |
2: 150,484,701 (GRCm39) |
I181F |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,229,287 (GRCm39) |
I610V |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,894,834 (GRCm39) |
F256I |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,321,322 (GRCm39) |
S273P |
probably benign |
Het |
| Baz2b |
T |
G |
2: 59,792,580 (GRCm39) |
E516A |
probably benign |
Het |
| Bbs2 |
G |
T |
8: 94,814,056 (GRCm39) |
D187E |
probably damaging |
Het |
| Cacna1b |
T |
A |
2: 24,575,808 (GRCm39) |
M747L |
probably benign |
Het |
| Cacna2d4 |
C |
A |
6: 119,277,313 (GRCm39) |
D675E |
probably damaging |
Het |
| Calcr |
G |
A |
6: 3,687,615 (GRCm39) |
T461M |
probably benign |
Het |
| Catip |
A |
G |
1: 74,403,515 (GRCm39) |
K126E |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,328 (GRCm39) |
I273T |
probably benign |
Het |
| Clasp2 |
G |
A |
9: 113,676,823 (GRCm39) |
V185I |
probably benign |
Het |
| Cracr2a |
A |
G |
6: 127,616,135 (GRCm39) |
N370S |
probably benign |
Het |
| Crygc |
A |
T |
1: 65,110,981 (GRCm39) |
V102D |
probably benign |
Het |
| Ddx23 |
A |
G |
15: 98,556,145 (GRCm39) |
S58P |
unknown |
Het |
| Dlgap5 |
C |
T |
14: 47,645,298 (GRCm39) |
G281D |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,388,099 (GRCm39) |
Y3186F |
probably damaging |
Het |
| Dpp6 |
A |
C |
5: 27,836,397 (GRCm39) |
I296L |
probably benign |
Het |
| Elfn2 |
C |
T |
15: 78,556,660 (GRCm39) |
R629H |
probably damaging |
Het |
| Eml2 |
G |
T |
7: 18,915,149 (GRCm39) |
|
probably null |
Het |
| Fitm1 |
T |
A |
14: 55,813,906 (GRCm39) |
V134E |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,907,243 (GRCm38) |
N1272S |
probably benign |
Het |
| Fuca1 |
G |
A |
4: 135,662,114 (GRCm39) |
W347* |
probably null |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,486 (GRCm39) |
K1020R |
probably benign |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,327 (GRCm39) |
W149R |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,383,217 (GRCm39) |
S3629R |
probably benign |
Het |
| Itih4 |
A |
T |
14: 30,621,400 (GRCm39) |
N821I |
possibly damaging |
Het |
| Kmt2d |
A |
T |
15: 98,739,945 (GRCm39) |
L4731Q |
unknown |
Het |
| Loxhd1 |
A |
T |
18: 77,427,845 (GRCm39) |
I472F |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,339,713 (GRCm39) |
C1066F |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,114,637 (GRCm39) |
F114I |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,587,636 (GRCm39) |
E434G |
probably benign |
Het |
| N6amt1 |
T |
C |
16: 87,151,228 (GRCm39) |
F30L |
probably damaging |
Het |
| Naca |
G |
A |
10: 127,877,400 (GRCm39) |
V811I |
unknown |
Het |
| Nobox |
A |
C |
6: 43,282,101 (GRCm39) |
I324S |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,043,365 (GRCm39) |
S442P |
probably benign |
Het |
| Or6c2 |
A |
T |
10: 129,362,809 (GRCm39) |
T238S |
probably damaging |
Het |
| Osbpl1a |
A |
T |
18: 13,038,099 (GRCm39) |
L284Q |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,867,625 (GRCm39) |
Q336L |
probably benign |
Het |
| Pcdhb20 |
A |
C |
18: 37,639,226 (GRCm39) |
Y584S |
possibly damaging |
Het |
| Pgpep1l |
A |
T |
7: 67,887,519 (GRCm39) |
F27Y |
probably benign |
Het |
| Pik3cg |
T |
G |
12: 32,245,687 (GRCm39) |
I854L |
probably benign |
Het |
| Pot1a |
C |
T |
6: 25,771,535 (GRCm39) |
V229M |
possibly damaging |
Het |
| Prh1 |
C |
T |
6: 132,548,822 (GRCm39) |
P110S |
unknown |
Het |
| Prkag3 |
C |
T |
1: 74,786,366 (GRCm39) |
C193Y |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,360,539 (GRCm39) |
F69L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,444,294 (GRCm39) |
T1437A |
probably benign |
Het |
| Rad54l2 |
G |
A |
9: 106,590,701 (GRCm39) |
T475I |
possibly damaging |
Het |
| Retreg1 |
C |
A |
15: 25,969,885 (GRCm39) |
A130E |
probably benign |
Het |
| Rps6kb1 |
G |
T |
11: 86,426,262 (GRCm39) |
H56N |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,449,710 (GRCm39) |
H385R |
probably damaging |
Het |
| Sbpl |
T |
G |
17: 24,172,244 (GRCm39) |
N225T |
unknown |
Het |
| Scml4 |
T |
C |
10: 42,806,602 (GRCm39) |
|
probably null |
Het |
| Scrib |
G |
A |
15: 75,937,940 (GRCm39) |
T302M |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,717,915 (GRCm39) |
T1483I |
possibly damaging |
Het |
| Sh3bgrl3 |
A |
G |
4: 133,855,390 (GRCm39) |
S19P |
probably damaging |
Het |
| Slc10a6 |
C |
T |
5: 103,760,327 (GRCm39) |
V223I |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,532,589 (GRCm39) |
T950A |
probably benign |
Het |
| Spats2 |
A |
T |
15: 99,064,961 (GRCm39) |
D9V |
possibly damaging |
Het |
| Sphk1 |
A |
T |
11: 116,425,904 (GRCm39) |
|
probably null |
Het |
| Tex10 |
A |
T |
4: 48,431,066 (GRCm39) |
S897R |
probably benign |
Het |
| Tmco3 |
T |
C |
8: 13,353,873 (GRCm39) |
V395A |
probably damaging |
Het |
| Ttc7b |
A |
G |
12: 100,350,432 (GRCm39) |
L478P |
probably damaging |
Het |
| Ubac2 |
T |
C |
14: 122,220,717 (GRCm39) |
M184T |
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,511,598 (GRCm39) |
S433P |
probably damaging |
Het |
| Zfp202 |
T |
A |
9: 40,122,538 (GRCm39) |
H433Q |
probably benign |
Het |
| Zfp526 |
G |
T |
7: 24,924,737 (GRCm39) |
R332L |
probably damaging |
Het |
|
| Other mutations in Rabgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00501:Rabgap1
|
APN |
2 |
37,359,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01456:Rabgap1
|
APN |
2 |
37,431,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01599:Rabgap1
|
APN |
2 |
37,446,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01834:Rabgap1
|
APN |
2 |
37,454,773 (GRCm39) |
intron |
probably benign |
|
|
IGL01940:Rabgap1
|
APN |
2 |
37,377,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02416:Rabgap1
|
APN |
2 |
37,451,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02683:Rabgap1
|
APN |
2 |
37,392,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Rabgap1
|
APN |
2 |
37,427,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02999:Rabgap1
|
APN |
2 |
37,373,838 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03144:Rabgap1
|
APN |
2 |
37,430,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Dread
|
UTSW |
2 |
37,427,319 (GRCm39) |
nonsense |
probably null |
|
|
Evanescence
|
UTSW |
2 |
37,422,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
foreboding
|
UTSW |
2 |
37,422,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Temporality
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02796:Rabgap1
|
UTSW |
2 |
37,362,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0117:Rabgap1
|
UTSW |
2 |
37,451,897 (GRCm39) |
splice site |
probably null |
|
|
R0455:Rabgap1
|
UTSW |
2 |
37,377,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0569:Rabgap1
|
UTSW |
2 |
37,379,729 (GRCm39) |
intron |
probably benign |
|
|
R0586:Rabgap1
|
UTSW |
2 |
37,433,235 (GRCm39) |
missense |
probably benign |
|
|
R0962:Rabgap1
|
UTSW |
2 |
37,450,481 (GRCm39) |
intron |
probably benign |
|
|
R1055:Rabgap1
|
UTSW |
2 |
37,382,080 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1086:Rabgap1
|
UTSW |
2 |
37,359,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1251:Rabgap1
|
UTSW |
2 |
37,433,246 (GRCm39) |
splice site |
probably null |
|
|
R1598:Rabgap1
|
UTSW |
2 |
37,451,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Rabgap1
|
UTSW |
2 |
37,385,771 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1957:Rabgap1
|
UTSW |
2 |
37,373,774 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2134:Rabgap1
|
UTSW |
2 |
37,453,499 (GRCm39) |
nonsense |
probably null |
|
|
R2154:Rabgap1
|
UTSW |
2 |
37,365,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Rabgap1
|
UTSW |
2 |
37,422,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4351:Rabgap1
|
UTSW |
2 |
37,373,794 (GRCm39) |
missense |
probably benign |
|
|
R4658:Rabgap1
|
UTSW |
2 |
37,377,561 (GRCm39) |
nonsense |
probably null |
|
|
R4821:Rabgap1
|
UTSW |
2 |
37,422,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Rabgap1
|
UTSW |
2 |
37,450,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5014:Rabgap1
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5252:Rabgap1
|
UTSW |
2 |
37,365,369 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5392:Rabgap1
|
UTSW |
2 |
37,359,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5794:Rabgap1
|
UTSW |
2 |
37,392,914 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5941:Rabgap1
|
UTSW |
2 |
37,451,908 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6002:Rabgap1
|
UTSW |
2 |
37,363,614 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6209:Rabgap1
|
UTSW |
2 |
37,453,610 (GRCm39) |
nonsense |
probably null |
|
|
R6317:Rabgap1
|
UTSW |
2 |
37,432,659 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7011:Rabgap1
|
UTSW |
2 |
37,430,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Rabgap1
|
UTSW |
2 |
37,450,575 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7514:Rabgap1
|
UTSW |
2 |
37,427,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7543:Rabgap1
|
UTSW |
2 |
37,359,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7599:Rabgap1
|
UTSW |
2 |
37,392,908 (GRCm39) |
frame shift |
probably null |
|
|
R7709:Rabgap1
|
UTSW |
2 |
37,427,339 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7784:Rabgap1
|
UTSW |
2 |
37,377,544 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7816:Rabgap1
|
UTSW |
2 |
37,453,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7834:Rabgap1
|
UTSW |
2 |
37,359,419 (GRCm39) |
intron |
probably benign |
|
|
R7869:Rabgap1
|
UTSW |
2 |
37,377,142 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7888:Rabgap1
|
UTSW |
2 |
37,427,319 (GRCm39) |
nonsense |
probably null |
|
|
R7949:Rabgap1
|
UTSW |
2 |
37,453,491 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8333:Rabgap1
|
UTSW |
2 |
37,385,710 (GRCm39) |
missense |
probably benign |
|
|
R8440:Rabgap1
|
UTSW |
2 |
37,432,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9210:Rabgap1
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9212:Rabgap1
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9574:Rabgap1
|
UTSW |
2 |
37,433,246 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Rabgap1
|
UTSW |
2 |
37,450,556 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Rabgap1
|
UTSW |
2 |
37,359,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTTACCATGAAGACATTGGG -3'
(R):5'- GGTCCGTACAAGACACAAGC -3'
Sequencing Primer
(F):5'- CTTACCATGAAGACATTGGGATTGG -3'
(R):5'- TAAGTCTAGGCAGGCACA -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation