Incidental Mutation 'R4351:Rabgap1'
ID |
328497 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rabgap1
|
Ensembl Gene |
ENSMUSG00000035437 |
Gene Name |
RAB GTPase activating protein 1 |
Synonyms |
Gapcena |
MMRRC Submission |
041106-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.239)
|
Stock # |
R4351 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37373794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 269
(T269A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000133434]
[ENSMUST00000183690]
|
AlphaFold |
A2AWA9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061179
AA Change: T269A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000061624 Gene: ENSMUSG00000035437 AA Change: T269A
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: ENSMUST00000066055
AA Change: T269A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000068835 Gene: ENSMUSG00000035437 AA Change: T269A
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 benign
Transcript: ENSMUST00000112920
AA Change: T269A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108542 Gene: ENSMUSG00000035437 AA Change: T269A
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: ENSMUST00000133434
AA Change: T269A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121963 Gene: ENSMUSG00000035437 AA Change: T269A
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 |
7.2e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153145
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203017
|
Meta Mutation Damage Score |
0.0582 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Aak1 |
A |
G |
6: 86,912,519 (GRCm39) |
|
probably null |
Het |
Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
Adh1 |
A |
G |
3: 137,986,258 (GRCm39) |
T82A |
probably benign |
Het |
Ak6 |
C |
T |
13: 100,792,111 (GRCm39) |
Q185* |
probably null |
Het |
Aldh6a1 |
A |
G |
12: 84,490,535 (GRCm39) |
Y27H |
probably benign |
Het |
Apob |
A |
G |
12: 8,043,054 (GRCm39) |
M812V |
probably benign |
Het |
Arhgef10 |
C |
A |
8: 15,041,145 (GRCm39) |
S748* |
probably null |
Het |
Brd3 |
A |
T |
2: 27,347,028 (GRCm39) |
Y369N |
probably damaging |
Het |
Cracdl |
A |
G |
1: 37,663,993 (GRCm39) |
F635S |
probably benign |
Het |
Dhh |
A |
G |
15: 98,796,099 (GRCm39) |
|
probably benign |
Het |
Disp1 |
A |
G |
1: 182,881,542 (GRCm39) |
V200A |
probably benign |
Het |
Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
Evx1 |
A |
G |
6: 52,290,846 (GRCm39) |
D6G |
probably damaging |
Het |
Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
Hsd17b4 |
A |
T |
18: 50,275,701 (GRCm39) |
D115V |
probably damaging |
Het |
Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
Or2v2 |
A |
G |
11: 49,004,530 (GRCm39) |
S8P |
probably damaging |
Het |
Or8g52 |
T |
A |
9: 39,630,865 (GRCm39) |
M114K |
probably damaging |
Het |
Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
Tm2d3 |
A |
G |
7: 65,344,939 (GRCm39) |
Y49C |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Wdr81 |
A |
G |
11: 75,332,638 (GRCm39) |
L1921P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTGCTGTTCTGAACTGTATCC -3'
(R):5'- GCATAAACGTATTCCCTGTAGAAG -3'
Sequencing Primer
(F):5'- GCTGTTCTGAACTGTATCCTTAAAAG -3'
(R):5'- AGTCTGACCTAGTTTCTTCTGTAC -3'
|
Posted On |
2015-07-07 |