Incidental Mutation 'IGL02683:Rabgap1'
ID |
303451 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rabgap1
|
Ensembl Gene |
ENSMUSG00000035437 |
Gene Name |
RAB GTPase activating protein 1 |
Synonyms |
Gapcena |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.239)
|
Stock # |
IGL02683
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37392951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 536
(W536R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108542
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000183690]
|
AlphaFold |
A2AWA9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061179
AA Change: W536R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000061624 Gene: ENSMUSG00000035437 AA Change: W536R
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: W536R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068835 Gene: ENSMUSG00000035437 AA Change: W536R
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: W536R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108542 Gene: ENSMUSG00000035437 AA Change: W536R
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 |
noncoding transcript
Transcript: ENSMUST00000130601
|
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
C |
8: 111,779,163 (GRCm39) |
|
probably benign |
Het |
Abhd3 |
A |
G |
18: 10,658,790 (GRCm39) |
S215P |
probably damaging |
Het |
Adam20 |
G |
A |
8: 41,248,621 (GRCm39) |
V244M |
probably damaging |
Het |
Akr1c21 |
A |
C |
13: 4,626,312 (GRCm39) |
D112A |
probably damaging |
Het |
Ano6 |
A |
T |
15: 95,846,193 (GRCm39) |
Y498F |
probably damaging |
Het |
Aspscr1 |
T |
C |
11: 120,592,052 (GRCm39) |
F263S |
probably damaging |
Het |
Capn11 |
A |
G |
17: 45,964,517 (GRCm39) |
F100S |
probably damaging |
Het |
Cd63 |
T |
C |
10: 128,746,299 (GRCm39) |
C9R |
probably damaging |
Het |
Cenpj |
T |
C |
14: 56,790,409 (GRCm39) |
K547E |
possibly damaging |
Het |
Clasp1 |
A |
G |
1: 118,466,996 (GRCm39) |
D793G |
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
Crybg1 |
A |
G |
10: 43,865,212 (GRCm39) |
S1422P |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnal1 |
G |
A |
12: 84,185,128 (GRCm39) |
G178D |
probably damaging |
Het |
E2f7 |
T |
C |
10: 110,618,320 (GRCm39) |
M795T |
probably benign |
Het |
Glipr1l2 |
T |
C |
10: 111,919,381 (GRCm39) |
V34A |
probably benign |
Het |
Gsdmc2 |
C |
T |
15: 63,705,261 (GRCm39) |
V151M |
probably damaging |
Het |
Htr7 |
T |
C |
19: 35,937,762 (GRCm39) |
T448A |
probably benign |
Het |
Kcnj5 |
T |
C |
9: 32,229,076 (GRCm39) |
T41A |
possibly damaging |
Het |
Kcnt1 |
T |
C |
2: 25,790,937 (GRCm39) |
M12T |
possibly damaging |
Het |
Kif1c |
G |
A |
11: 70,617,278 (GRCm39) |
A871T |
possibly damaging |
Het |
Map3k10 |
T |
C |
7: 27,358,362 (GRCm39) |
K571R |
probably damaging |
Het |
Med23 |
C |
A |
10: 24,746,615 (GRCm39) |
A45E |
probably benign |
Het |
Nudt5 |
C |
A |
2: 5,868,412 (GRCm39) |
S103R |
probably damaging |
Het |
Or9m1 |
T |
A |
2: 87,733,448 (GRCm39) |
T191S |
possibly damaging |
Het |
Parp3 |
A |
G |
9: 106,350,384 (GRCm39) |
S369P |
possibly damaging |
Het |
Plxna4 |
A |
T |
6: 32,494,541 (GRCm39) |
L25Q |
probably benign |
Het |
Pon2 |
A |
G |
6: 5,269,062 (GRCm39) |
V204A |
probably damaging |
Het |
Ppfia1 |
A |
G |
7: 144,067,095 (GRCm39) |
M463T |
probably damaging |
Het |
Ppp1r14d |
T |
C |
2: 119,049,303 (GRCm39) |
E95G |
probably damaging |
Het |
Pramel18 |
T |
C |
4: 101,767,551 (GRCm39) |
S267P |
probably benign |
Het |
Prrc2a |
A |
G |
17: 35,374,969 (GRCm39) |
V1227A |
probably benign |
Het |
Slco6d1 |
A |
G |
1: 98,408,397 (GRCm39) |
N431S |
probably benign |
Het |
Spen |
C |
T |
4: 141,198,956 (GRCm39) |
V3224I |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
Stat5b |
T |
G |
11: 100,695,772 (GRCm39) |
K70T |
probably benign |
Het |
Tex44 |
A |
G |
1: 86,355,465 (GRCm39) |
D458G |
probably benign |
Het |
Tut1 |
T |
A |
19: 8,942,622 (GRCm39) |
C570S |
probably benign |
Het |
Usp42 |
T |
C |
5: 143,701,101 (GRCm39) |
E974G |
possibly damaging |
Het |
Vezf1 |
A |
T |
11: 87,967,153 (GRCm39) |
Q310L |
probably benign |
Het |
Vmn2r83 |
A |
T |
10: 79,327,115 (GRCm39) |
R574S |
probably benign |
Het |
Zfp664 |
T |
C |
5: 124,963,386 (GRCm39) |
V260A |
probably benign |
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 |
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 |
R8084:Rabgap1
|
UTSW |
2 |
37,427,317 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |