Incidental Mutation 'R6953:Racgap1'
| ID |
541334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Racgap1
|
| Ensembl Gene |
ENSMUSG00000023015 |
| Gene Name |
Rac GTPase-activating protein 1 |
| Synonyms |
gtl11, MgcRacGAP, GTPase, Band25 |
| MMRRC Submission |
045065-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6953 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99518377-99549504 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99524210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 399
(E399G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023756]
[ENSMUST00000168065]
[ENSMUST00000171702]
|
| AlphaFold |
Q9WVM1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023756
AA Change: E399G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023756
Gene: ENSMUSG00000023015
AA Change: E399G
| 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: ENSMUST00000168065
|
| SMART Domains |
Protein: ENSMUSP00000132732
Gene: ENSMUSG00000023015
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
6 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171702
AA Change: E399G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126417
Gene: ENSMUSG00000023015
AA Change: E399G
| 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 |
|
| Meta Mutation Damage Score |
0.1580 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
C |
A |
15: 57,892,223 (GRCm39) |
S128I |
probably damaging |
Het |
| Aadacl2 |
A |
C |
3: 59,932,181 (GRCm39) |
H232P |
possibly damaging |
Het |
| Abcc3 |
A |
G |
11: 94,265,661 (GRCm39) |
Y125H |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,865,592 (GRCm39) |
S84P |
probably damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,192,142 (GRCm39) |
K71* |
probably null |
Het |
| Ap2m1 |
T |
A |
16: 20,361,468 (GRCm39) |
W381R |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,521,762 (GRCm39) |
I426V |
probably benign |
Het |
| BC024063 |
T |
A |
10: 81,943,733 (GRCm39) |
D31E |
possibly damaging |
Het |
| C3ar1 |
G |
A |
6: 122,827,591 (GRCm39) |
H209Y |
possibly damaging |
Het |
| Ccp110 |
T |
C |
7: 118,321,644 (GRCm39) |
V433A |
possibly damaging |
Het |
| Cfap54 |
A |
G |
10: 92,830,540 (GRCm39) |
S1199P |
probably benign |
Het |
| Cyp24a1 |
T |
G |
2: 170,329,866 (GRCm39) |
D362A |
probably benign |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,829,822 (GRCm39) |
Q633K |
probably benign |
Het |
| Ercc4 |
T |
A |
16: 12,948,550 (GRCm39) |
V499D |
probably damaging |
Het |
| Ier3ip1 |
C |
G |
18: 77,027,309 (GRCm39) |
P46R |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,832 (GRCm39) |
T110A |
probably damaging |
Het |
| Isoc1 |
A |
G |
18: 58,804,374 (GRCm39) |
D134G |
possibly damaging |
Het |
| Kif26b |
A |
G |
1: 178,701,637 (GRCm39) |
D672G |
possibly damaging |
Het |
| Klhl33 |
T |
A |
14: 51,128,973 (GRCm39) |
D752V |
possibly damaging |
Het |
| Lcn4 |
A |
G |
2: 26,559,367 (GRCm39) |
Y133H |
probably benign |
Het |
| Mrs2 |
C |
A |
13: 25,185,771 (GRCm39) |
V134L |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,551,825 (GRCm39) |
T4823A |
probably benign |
Het |
| Ogfod3 |
A |
G |
11: 121,093,824 (GRCm39) |
I62T |
probably benign |
Het |
| Or2m13 |
C |
T |
16: 19,226,278 (GRCm39) |
V164I |
probably benign |
Het |
| Or2y10 |
A |
G |
11: 49,455,117 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or6c204 |
A |
T |
10: 129,022,474 (GRCm39) |
M272K |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,049,299 (GRCm39) |
I296L |
probably benign |
Het |
| Papln |
G |
A |
12: 83,828,659 (GRCm39) |
W788* |
probably null |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,479 (GRCm39) |
Q153R |
probably benign |
Het |
| Pcdhgb2 |
C |
T |
18: 37,823,807 (GRCm39) |
T266I |
possibly damaging |
Het |
| Pcdhgc5 |
C |
A |
18: 37,953,514 (GRCm39) |
R263S |
possibly damaging |
Het |
| Phactr4 |
T |
C |
4: 132,104,662 (GRCm39) |
T185A |
possibly damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,800,882 (GRCm39) |
D114G |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,632,537 (GRCm39) |
I987N |
probably damaging |
Het |
| Prl3d3 |
A |
G |
13: 27,345,029 (GRCm39) |
M134V |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,778,779 (GRCm39) |
|
probably null |
Het |
| Sbspon |
A |
T |
1: 15,930,519 (GRCm39) |
S156T |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,149,813 (GRCm39) |
T927A |
probably damaging |
Het |
| Sec23ip |
C |
A |
7: 128,354,520 (GRCm39) |
S78* |
probably null |
Het |
| Serpina1d |
G |
A |
12: 103,733,989 (GRCm39) |
T105I |
probably benign |
Het |
| Slc25a21 |
T |
A |
12: 57,205,954 (GRCm39) |
N26Y |
probably benign |
Het |
| Smim20 |
T |
A |
5: 53,435,258 (GRCm39) |
D64E |
probably damaging |
Het |
| Spag17 |
T |
G |
3: 99,942,291 (GRCm39) |
I772S |
possibly damaging |
Het |
| Tars2 |
T |
C |
3: 95,660,426 (GRCm39) |
T99A |
possibly damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,819,803 (GRCm39) |
T101I |
probably damaging |
Het |
| Tldc2 |
T |
G |
2: 156,931,198 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,601,929 (GRCm39) |
Y10251H |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 187,995,342 (GRCm39) |
R38G |
possibly damaging |
Het |
| Usp19 |
T |
C |
9: 108,376,130 (GRCm39) |
L991P |
possibly damaging |
Het |
| Vmn2r109 |
G |
A |
17: 20,760,973 (GRCm39) |
P795S |
possibly damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,016,741 (GRCm39) |
Y402H |
probably benign |
Het |
| Vmn2r-ps117 |
T |
G |
17: 19,045,095 (GRCm39) |
I504R |
probably benign |
Het |
| Zfp551 |
A |
T |
7: 12,150,715 (GRCm39) |
C231* |
probably null |
Het |
| Zfp607a |
T |
A |
7: 27,577,790 (GRCm39) |
C287S |
possibly damaging |
Het |
| Zim1 |
T |
A |
7: 6,690,706 (GRCm39) |
T40S |
unknown |
Het |
|
| Other mutations in Racgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Racgap1
|
APN |
15 |
99,534,003 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGACACTGCACAGGTG -3'
(R):5'- TGTCAATGAGATCGAGCAGC -3'
Sequencing Primer
(F):5'- TGTAAACACAGCTCAGCCCTGG -3'
(R):5'- AGCGAGGCCTGACTGAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation