Incidental Mutation 'IGL00088:Racgap1'
| ID |
885 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Racgap1
|
| Ensembl Gene |
ENSMUSG00000023015 |
| Gene Name |
Rac GTPase-activating protein 1 |
| Synonyms |
gtl11, MgcRacGAP, GTPase, Band25 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99518377-99549504 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 99534003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023756]
[ENSMUST00000109581]
[ENSMUST00000164983]
[ENSMUST00000165730]
[ENSMUST00000168065]
[ENSMUST00000171702]
[ENSMUST00000169810]
[ENSMUST00000171908]
|
| AlphaFold |
Q9WVM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023756
|
| SMART Domains |
Protein: ENSMUSP00000023756
Gene: ENSMUSG00000023015
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
110 |
N/A |
INTRINSIC |
|
C1
|
288 |
336 |
2.44e-5 |
SMART |
|
RhoGAP
|
361 |
537 |
3.4e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164983
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168065
|
| SMART Domains |
Protein: ENSMUSP00000132732
Gene: ENSMUSG00000023015
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
6 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171017
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171702
|
| SMART Domains |
Protein: ENSMUSP00000126417
Gene: ENSMUSG00000023015
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
110 |
N/A |
INTRINSIC |
|
C1
|
288 |
336 |
2.44e-5 |
SMART |
|
RhoGAP
|
361 |
537 |
3.4e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169810
|
| SMART Domains |
Protein: ENSMUSP00000130876
Gene: ENSMUSG00000023015
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
110 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170369
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171908
|
| SMART Domains |
Protein: ENSMUSP00000128892
Gene: ENSMUSG00000023015
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
110 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]
PHENOTYPE: Embryos homozygous for a gene-trapped allele exhibit pre-implantation lethality associated with the formation of multinucleated blastomeres and failure to complete cytokinesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
A |
G |
18: 36,798,512 (GRCm39) |
|
probably benign |
Het |
| Anpep |
A |
G |
7: 79,475,484 (GRCm39) |
V879A |
possibly damaging |
Het |
| Asb13 |
T |
G |
13: 3,693,476 (GRCm39) |
V78G |
probably null |
Het |
| Atad2b |
A |
G |
12: 5,074,593 (GRCm39) |
R1051G |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
| C1ql2 |
G |
T |
1: 120,269,399 (GRCm39) |
G185C |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,404,829 (GRCm39) |
S745P |
possibly damaging |
Het |
| Col19a1 |
A |
T |
1: 24,600,387 (GRCm39) |
S52T |
unknown |
Het |
| Col4a2 |
G |
T |
8: 11,493,685 (GRCm39) |
G1418V |
probably damaging |
Het |
| Crnkl1 |
C |
T |
2: 145,760,388 (GRCm39) |
D677N |
possibly damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,392,079 (GRCm39) |
N125I |
probably benign |
Het |
| Cyp2t4 |
A |
T |
7: 26,854,723 (GRCm39) |
M68L |
probably benign |
Het |
| Dclk2 |
T |
A |
3: 86,706,397 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,308,988 (GRCm39) |
D1921G |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,905,667 (GRCm39) |
G4104S |
probably damaging |
Het |
| Echdc2 |
T |
C |
4: 108,036,108 (GRCm39) |
I273T |
probably damaging |
Het |
| Extl1 |
T |
C |
4: 134,085,330 (GRCm39) |
K596E |
probably damaging |
Het |
| Fads3 |
A |
T |
19: 10,029,663 (GRCm39) |
D108V |
probably null |
Het |
| Fam135b |
A |
G |
15: 71,322,343 (GRCm39) |
L1274P |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,477,639 (GRCm39) |
H2228Q |
possibly damaging |
Het |
| Gcc2 |
C |
T |
10: 58,128,502 (GRCm39) |
H1341Y |
probably damaging |
Het |
| Gls2 |
A |
G |
10: 128,036,840 (GRCm39) |
|
probably null |
Het |
| Gpr137 |
A |
C |
19: 6,917,072 (GRCm39) |
V139G |
probably damaging |
Het |
| Ikbke |
A |
G |
1: 131,197,749 (GRCm39) |
|
probably null |
Het |
| Irak2 |
A |
T |
6: 113,655,636 (GRCm39) |
N285Y |
probably benign |
Het |
| Kcnu1 |
G |
A |
8: 26,387,884 (GRCm39) |
C566Y |
probably benign |
Het |
| Klhl29 |
G |
A |
12: 5,190,705 (GRCm39) |
P97S |
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,941,591 (GRCm39) |
|
probably benign |
Het |
| Lhx6 |
G |
A |
2: 35,981,728 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,723,651 (GRCm39) |
L2529P |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Naa15 |
T |
A |
3: 51,345,826 (GRCm39) |
V19D |
probably damaging |
Het |
| Ncbp3 |
A |
T |
11: 72,964,355 (GRCm39) |
|
probably benign |
Het |
| Nckipsd |
G |
A |
9: 108,692,168 (GRCm39) |
V530I |
probably benign |
Het |
| Neb |
A |
G |
2: 52,198,759 (GRCm39) |
I394T |
possibly damaging |
Het |
| Nnmt |
A |
T |
9: 48,503,224 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
T |
A |
14: 60,480,026 (GRCm39) |
I207L |
probably benign |
Het |
| Or14j2 |
A |
T |
17: 37,885,808 (GRCm39) |
C169S |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,578 (GRCm39) |
M197K |
probably damaging |
Het |
| Or5k16 |
C |
T |
16: 58,736,213 (GRCm39) |
E264K |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,399,510 (GRCm39) |
N741K |
probably damaging |
Het |
| Pard6a |
T |
A |
8: 106,429,833 (GRCm39) |
C264S |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,091,099 (GRCm39) |
N276S |
probably damaging |
Het |
| Pramel31 |
T |
A |
4: 144,089,100 (GRCm39) |
H139Q |
possibly damaging |
Het |
| Pramel32 |
T |
A |
4: 88,547,307 (GRCm39) |
K121N |
probably benign |
Het |
| Rad51d |
T |
C |
11: 82,780,572 (GRCm39) |
D70G |
probably damaging |
Het |
| Recql4 |
C |
T |
15: 76,591,536 (GRCm39) |
A484T |
possibly damaging |
Het |
| Reg3g |
A |
T |
6: 78,443,762 (GRCm39) |
S149T |
probably benign |
Het |
| Rpl13a |
C |
A |
7: 44,776,495 (GRCm39) |
|
probably null |
Het |
| Scn10a |
T |
C |
9: 119,501,292 (GRCm39) |
Y164C |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,594,784 (GRCm39) |
I1878V |
probably benign |
Het |
| Sgcg |
T |
A |
14: 61,477,796 (GRCm39) |
R98* |
probably null |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 40,468,274 (GRCm39) |
I35F |
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,638 (GRCm39) |
F270S |
possibly damaging |
Het |
| Traip |
C |
T |
9: 107,847,749 (GRCm39) |
R391W |
probably benign |
Het |
| Trim7 |
A |
G |
11: 48,736,398 (GRCm39) |
N251D |
probably damaging |
Het |
| Trmt2a |
T |
A |
16: 18,067,351 (GRCm39) |
V8D |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,964,512 (GRCm39) |
E221G |
probably damaging |
Het |
| Ubr3 |
A |
C |
2: 69,819,154 (GRCm39) |
I9L |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,702,897 (GRCm39) |
S575P |
probably benign |
Het |
| Vmn2r52 |
G |
T |
7: 9,903,023 (GRCm39) |
H468Q |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,661,488 (GRCm39) |
T776S |
possibly damaging |
Het |
|
| Other mutations in Racgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01450:Racgap1
|
APN |
15 |
99,524,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01907:Racgap1
|
APN |
15 |
99,524,214 (GRCm39) |
nonsense |
probably null |
|
|
IGL02584:Racgap1
|
APN |
15 |
99,521,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02733:Racgap1
|
APN |
15 |
99,537,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03137:Racgap1
|
APN |
15 |
99,526,622 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03145:Racgap1
|
APN |
15 |
99,521,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02799:Racgap1
|
UTSW |
15 |
99,530,628 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0106:Racgap1
|
UTSW |
15 |
99,540,839 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0106:Racgap1
|
UTSW |
15 |
99,540,839 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0140:Racgap1
|
UTSW |
15 |
99,521,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0398:Racgap1
|
UTSW |
15 |
99,526,508 (GRCm39) |
splice site |
probably benign |
|
|
R0496:Racgap1
|
UTSW |
15 |
99,537,713 (GRCm39) |
splice site |
probably benign |
|
|
R0528:Racgap1
|
UTSW |
15 |
99,526,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Racgap1
|
UTSW |
15 |
99,524,411 (GRCm39) |
missense |
probably benign |
|
|
R0947:Racgap1
|
UTSW |
15 |
99,522,195 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1348:Racgap1
|
UTSW |
15 |
99,524,246 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1470:Racgap1
|
UTSW |
15 |
99,537,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1470:Racgap1
|
UTSW |
15 |
99,537,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1720:Racgap1
|
UTSW |
15 |
99,526,650 (GRCm39) |
nonsense |
probably null |
|
|
R2235:Racgap1
|
UTSW |
15 |
99,524,417 (GRCm39) |
missense |
probably benign |
|
|
R3624:Racgap1
|
UTSW |
15 |
99,540,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4621:Racgap1
|
UTSW |
15 |
99,524,087 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4622:Racgap1
|
UTSW |
15 |
99,524,087 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4623:Racgap1
|
UTSW |
15 |
99,524,087 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5046:Racgap1
|
UTSW |
15 |
99,526,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5899:Racgap1
|
UTSW |
15 |
99,521,509 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6306:Racgap1
|
UTSW |
15 |
99,521,834 (GRCm39) |
missense |
probably benign |
|
|
R6513:Racgap1
|
UTSW |
15 |
99,522,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6618:Racgap1
|
UTSW |
15 |
99,521,875 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6953:Racgap1
|
UTSW |
15 |
99,524,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Racgap1
|
UTSW |
15 |
99,529,081 (GRCm39) |
missense |
probably benign |
|
|
R7463:Racgap1
|
UTSW |
15 |
99,540,839 (GRCm39) |
missense |
probably benign |
|
|
R8292:Racgap1
|
UTSW |
15 |
99,520,127 (GRCm39) |
nonsense |
probably null |
|
|
R8883:Racgap1
|
UTSW |
15 |
99,526,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9227:Racgap1
|
UTSW |
15 |
99,534,078 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2011-07-12 |
Incidental Mutation