Incidental Mutation 'R1598:Rabgap1'
ID |
175921 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rabgap1
|
Ensembl Gene |
ENSMUSG00000035437 |
Gene Name |
RAB GTPase activating protein 1 |
Synonyms |
Gapcena |
MMRRC Submission |
039635-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.239)
|
Stock # |
R1598 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37451911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 937
(S937F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108542
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000112920]
[ENSMUST00000183690]
|
AlphaFold |
A2AWA9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061179
AA Change: S937F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000061624 Gene: ENSMUSG00000035437 AA Change: S937F
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: ENSMUST00000112920
AA Change: S937F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108542 Gene: ENSMUSG00000035437 AA Change: S937F
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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
G |
A |
11: 80,254,838 (GRCm39) |
Q328* |
probably null |
Het |
Aadacl4fm4 |
T |
A |
4: 144,396,994 (GRCm39) |
K246I |
possibly damaging |
Het |
Adamts1 |
G |
A |
16: 85,595,399 (GRCm39) |
Q260* |
probably null |
Het |
Add2 |
A |
T |
6: 86,075,628 (GRCm39) |
Y259F |
probably benign |
Het |
Bora |
T |
C |
14: 99,305,840 (GRCm39) |
V403A |
probably benign |
Het |
Ccnl1 |
G |
A |
3: 65,854,191 (GRCm39) |
R477W |
probably damaging |
Het |
Cdc25a |
CG |
CGG |
9: 109,708,961 (GRCm39) |
|
probably null |
Het |
Cdr2l |
T |
C |
11: 115,284,203 (GRCm39) |
S180P |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,385,191 (GRCm39) |
L1889Q |
probably damaging |
Het |
Ces4a |
T |
C |
8: 105,869,453 (GRCm39) |
V208A |
probably damaging |
Het |
Col2a1 |
T |
C |
15: 97,877,131 (GRCm39) |
D1049G |
probably damaging |
Het |
Coro1a |
A |
T |
7: 126,300,864 (GRCm39) |
N154K |
possibly damaging |
Het |
Cubn |
T |
A |
2: 13,474,600 (GRCm39) |
R401S |
probably benign |
Het |
Cul7 |
A |
T |
17: 46,974,017 (GRCm39) |
Q1434L |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dars1 |
G |
T |
1: 128,301,709 (GRCm39) |
D308E |
probably benign |
Het |
Dna2 |
T |
A |
10: 62,797,436 (GRCm39) |
F604I |
probably damaging |
Het |
Dnah1 |
T |
G |
14: 31,023,219 (GRCm39) |
I1033L |
probably benign |
Het |
Erlin1 |
T |
C |
19: 44,036,112 (GRCm39) |
E206G |
probably damaging |
Het |
Esrp2 |
T |
A |
8: 106,859,905 (GRCm39) |
E345D |
probably damaging |
Het |
Foxa1 |
T |
C |
12: 57,589,473 (GRCm39) |
D249G |
possibly damaging |
Het |
Ghsr |
C |
A |
3: 27,426,426 (GRCm39) |
L161M |
probably benign |
Het |
Gm57858 |
C |
T |
3: 36,073,146 (GRCm39) |
A379T |
probably damaging |
Het |
Gpr155 |
C |
A |
2: 73,200,434 (GRCm39) |
V358F |
probably damaging |
Het |
H2-Eb2 |
A |
T |
17: 34,553,348 (GRCm39) |
N178I |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,137,306 (GRCm39) |
I703N |
possibly damaging |
Het |
Kctd15 |
A |
G |
7: 34,341,417 (GRCm39) |
V170A |
probably damaging |
Het |
Klhl31 |
A |
T |
9: 77,558,298 (GRCm39) |
Y338F |
possibly damaging |
Het |
Krt5 |
C |
T |
15: 101,620,876 (GRCm39) |
A124T |
probably benign |
Het |
Krt72 |
T |
A |
15: 101,688,688 (GRCm39) |
I331F |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,401,490 (GRCm39) |
D388V |
probably damaging |
Het |
Ly9 |
A |
G |
1: 171,424,075 (GRCm39) |
V382A |
probably benign |
Het |
Mon2 |
T |
C |
10: 122,852,301 (GRCm39) |
Y1024C |
probably damaging |
Het |
Myh14 |
A |
G |
7: 44,287,818 (GRCm39) |
F572L |
probably damaging |
Het |
Myh3 |
A |
T |
11: 66,983,997 (GRCm39) |
D987V |
probably damaging |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Nphp4 |
A |
G |
4: 152,646,547 (GRCm39) |
T1360A |
probably benign |
Het |
Oog4 |
A |
G |
4: 143,164,571 (GRCm39) |
L320P |
probably damaging |
Het |
Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
Or5m9 |
C |
T |
2: 85,877,657 (GRCm39) |
T277I |
probably damaging |
Het |
Or5w8 |
T |
A |
2: 87,688,095 (GRCm39) |
I192K |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,498,825 (GRCm39) |
N1558S |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,147,976 (GRCm39) |
E147G |
probably damaging |
Het |
Pgbd5 |
T |
A |
8: 125,101,026 (GRCm39) |
H410L |
probably benign |
Het |
Plce1 |
A |
C |
19: 38,709,440 (GRCm39) |
D1098A |
probably damaging |
Het |
Psg25 |
G |
A |
7: 18,265,928 (GRCm39) |
Q16* |
probably null |
Het |
Psmd9 |
T |
A |
5: 123,379,980 (GRCm39) |
V133E |
probably damaging |
Het |
Rbck1 |
A |
G |
2: 152,165,090 (GRCm39) |
|
probably null |
Het |
Rprd2 |
C |
G |
3: 95,726,051 (GRCm39) |
|
probably benign |
Het |
Rrs1 |
A |
G |
1: 9,616,137 (GRCm39) |
N130S |
probably benign |
Het |
Scmh1 |
A |
T |
4: 120,372,327 (GRCm39) |
I377F |
possibly damaging |
Het |
Skor1 |
G |
T |
9: 63,053,286 (GRCm39) |
R228S |
probably damaging |
Het |
Slc2a4 |
A |
G |
11: 69,835,844 (GRCm39) |
V335A |
probably benign |
Het |
Slc4a9 |
G |
A |
18: 36,661,424 (GRCm39) |
W62* |
probably null |
Het |
Styxl2 |
G |
A |
1: 165,937,828 (GRCm39) |
T77I |
probably benign |
Het |
Taar9 |
G |
T |
10: 23,985,305 (GRCm39) |
A43D |
possibly damaging |
Het |
Tns4 |
T |
C |
11: 98,961,243 (GRCm39) |
Y645C |
probably damaging |
Het |
Tpcn2 |
G |
T |
7: 144,830,957 (GRCm39) |
Y129* |
probably null |
Het |
Trpm3 |
T |
C |
19: 22,710,388 (GRCm39) |
S278P |
possibly damaging |
Het |
Ttc3 |
T |
C |
16: 94,223,156 (GRCm39) |
W615R |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,910,372 (GRCm39) |
V207A |
probably damaging |
Het |
Ubr7 |
G |
T |
12: 102,736,153 (GRCm39) |
M358I |
probably damaging |
Het |
Urb1 |
C |
A |
16: 90,574,328 (GRCm39) |
V918F |
possibly damaging |
Het |
Vmn2r51 |
G |
A |
7: 9,839,432 (GRCm39) |
T52I |
probably benign |
Het |
Vmn2r95 |
A |
T |
17: 18,672,575 (GRCm39) |
I771F |
probably benign |
Het |
Wfdc16 |
T |
C |
2: 164,477,350 (GRCm39) |
S107G |
probably benign |
Het |
Zmym2 |
A |
G |
14: 57,140,226 (GRCm39) |
T22A |
possibly damaging |
Het |
Zmym2 |
G |
A |
14: 57,151,524 (GRCm39) |
G470R |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGAGTGCCCAGCATATAGGAG -3'
(R):5'- TGAATTAAGAATCCCCGCCTCAAGC -3'
Sequencing Primer
(F):5'- GGAGTCTGAATATTAGCAAACCAC -3'
(R):5'- GTTGTTGAACCTGAACCAGGC -3'
|
Posted On |
2014-04-24 |