Incidental Mutation 'IGL02416:Rabgap1'
| ID |
292465 |
| 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: 0.234)
|
| Stock # |
IGL02416
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37451962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 954
(I954T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000112920]
[ENSMUST00000183690]
|
| AlphaFold |
A2AWA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061179
AA Change: I954T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: I954T
| 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 benign
Transcript: ENSMUST00000112920
AA Change: I954T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: I954T
| 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: ENSMUST00000159092
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
C |
14: 68,810,282 (GRCm39) |
N227S |
probably null |
Het |
| Adgrf5 |
T |
G |
17: 43,755,871 (GRCm39) |
|
probably null |
Het |
| Arid2 |
G |
A |
15: 96,247,936 (GRCm39) |
G116D |
possibly damaging |
Het |
| Arsa |
T |
A |
15: 89,358,991 (GRCm39) |
H225L |
probably damaging |
Het |
| Atf6 |
T |
A |
1: 170,574,726 (GRCm39) |
K571* |
probably null |
Het |
| Bicdl1 |
A |
C |
5: 115,801,944 (GRCm39) |
L38R |
probably damaging |
Het |
| Cct4 |
T |
C |
11: 22,952,868 (GRCm39) |
S515P |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,709,318 (GRCm39) |
D1388A |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,790,777 (GRCm39) |
T432A |
probably benign |
Het |
| Des |
T |
A |
1: 75,339,372 (GRCm39) |
|
probably null |
Het |
| Dock11 |
T |
A |
X: 35,283,739 (GRCm39) |
V1119E |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,169,896 (GRCm39) |
N1763S |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,132 (GRCm39) |
S458G |
possibly damaging |
Het |
| Fhdc1 |
T |
G |
3: 84,352,535 (GRCm39) |
M897L |
probably benign |
Het |
| Foxj1 |
T |
C |
11: 116,222,829 (GRCm39) |
S325G |
probably benign |
Het |
| Gm5407 |
A |
G |
16: 49,117,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6576 |
T |
C |
15: 27,026,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hells |
G |
A |
19: 38,953,071 (GRCm39) |
S743N |
probably benign |
Het |
| Ighv2-9-1 |
A |
T |
12: 113,733,731 (GRCm39) |
L30Q |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,375,786 (GRCm39) |
L1363H |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,977 (GRCm39) |
D3025G |
probably damaging |
Het |
| Mef2d |
C |
T |
3: 88,063,809 (GRCm39) |
R79C |
probably damaging |
Het |
| Mical1 |
G |
T |
10: 41,360,806 (GRCm39) |
|
probably null |
Het |
| Micu2 |
A |
T |
14: 58,161,422 (GRCm39) |
V300E |
probably damaging |
Het |
| Mmgt2 |
T |
C |
11: 62,555,703 (GRCm39) |
L17P |
probably damaging |
Het |
| Or4p21 |
A |
G |
2: 88,277,174 (GRCm39) |
I36T |
probably benign |
Het |
| Or7c19 |
T |
A |
8: 85,957,662 (GRCm39) |
C179* |
probably null |
Het |
| Or7e177 |
A |
T |
9: 20,211,541 (GRCm39) |
E15V |
probably benign |
Het |
| Pigb |
A |
G |
9: 72,924,714 (GRCm39) |
S482P |
probably benign |
Het |
| Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Pou1f1 |
T |
C |
16: 65,328,842 (GRCm39) |
I187T |
probably damaging |
Het |
| Prox1 |
C |
T |
1: 189,893,327 (GRCm39) |
A373T |
probably benign |
Het |
| Scube3 |
T |
G |
17: 28,383,110 (GRCm39) |
C429W |
probably damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,852,058 (GRCm39) |
|
noncoding transcript |
Het |
| Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,935,629 (GRCm39) |
R1806S |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,288,438 (GRCm39) |
L860Q |
probably damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,605 (GRCm39) |
R219G |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,753,826 (GRCm39) |
S649G |
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 |
|
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 |
|
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 |
Incidental Mutation