Incidental Mutation 'IGL02755:Rabgap1'
| ID |
306381 |
| 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 # |
IGL02755
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37427326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 636
(Y636H)
|
| 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: Y636H
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: Y636H
| 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: Y636H
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: Y636H
| 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: Y636H
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: Y636H
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
T |
A |
11: 11,539,358 (GRCm39) |
N189I |
unknown |
Het |
| Adamts19 |
T |
A |
18: 59,103,005 (GRCm39) |
I682K |
probably benign |
Het |
| Adra1a |
G |
A |
14: 66,965,110 (GRCm39) |
V367I |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,743,507 (GRCm39) |
E1108G |
possibly damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,801,828 (GRCm39) |
N96K |
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,918,168 (GRCm39) |
Y160H |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,238,759 (GRCm39) |
V683E |
probably damaging |
Het |
| Cep104 |
A |
G |
4: 154,081,416 (GRCm39) |
H786R |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,760,210 (GRCm39) |
I1985T |
probably benign |
Het |
| Cntn2 |
T |
A |
1: 132,457,040 (GRCm39) |
T36S |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,671,189 (GRCm39) |
S1126P |
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,764,972 (GRCm39) |
V264E |
probably damaging |
Het |
| Degs2 |
T |
C |
12: 108,658,842 (GRCm39) |
T46A |
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,600,356 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
A |
G |
8: 120,317,410 (GRCm39) |
D313G |
probably damaging |
Het |
| Ephb3 |
T |
G |
16: 21,040,448 (GRCm39) |
D561E |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,186,895 (GRCm39) |
T321A |
probably benign |
Het |
| Ercc6 |
A |
G |
14: 32,297,705 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,742,065 (GRCm39) |
|
probably null |
Het |
| Gm28177 |
G |
A |
1: 52,136,031 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
C |
A |
19: 55,198,786 (GRCm39) |
V786F |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,581,913 (GRCm39) |
V123A |
possibly damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,305,260 (GRCm39) |
K33E |
probably damaging |
Het |
| Ift22 |
T |
C |
5: 136,940,640 (GRCm39) |
W102R |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,762,530 (GRCm39) |
F44L |
probably damaging |
Het |
| Lingo3 |
T |
C |
10: 80,671,843 (GRCm39) |
E29G |
possibly damaging |
Het |
| Nf2 |
A |
G |
11: 4,768,542 (GRCm39) |
L109P |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 78,110,187 (GRCm39) |
H349R |
probably benign |
Het |
| Or6c8 |
T |
A |
10: 128,915,065 (GRCm39) |
M256L |
probably benign |
Het |
| Otub1 |
T |
A |
19: 7,183,624 (GRCm39) |
M1L |
probably benign |
Het |
| Pkp3 |
A |
G |
7: 140,668,318 (GRCm39) |
|
probably null |
Het |
| Popdc3 |
C |
A |
10: 45,191,314 (GRCm39) |
H142N |
probably damaging |
Het |
| Pot1a |
A |
G |
6: 25,771,612 (GRCm39) |
F203S |
possibly damaging |
Het |
| Prdx5 |
A |
G |
19: 6,886,963 (GRCm39) |
V8A |
probably benign |
Het |
| Rad51d |
A |
T |
11: 82,772,458 (GRCm39) |
I236N |
probably benign |
Het |
| Reep3 |
G |
T |
10: 66,857,656 (GRCm39) |
T145K |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,120,475 (GRCm39) |
L156F |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,228,829 (GRCm39) |
T101A |
probably benign |
Het |
| Slc3a1 |
T |
C |
17: 85,344,605 (GRCm39) |
V257A |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,092,247 (GRCm39) |
V506A |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,861,595 (GRCm39) |
S2471T |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,381 (GRCm39) |
T319A |
probably damaging |
Het |
| Vmn2r94 |
C |
T |
17: 18,464,761 (GRCm39) |
V510I |
probably benign |
Het |
| Wscd2 |
T |
A |
5: 113,712,092 (GRCm39) |
M337K |
possibly damaging |
Het |
| Zfp866 |
A |
G |
8: 70,219,290 (GRCm39) |
|
probably null |
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 |
|
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