Incidental Mutation 'R5899:Racgap1'
ID |
457749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Racgap1
|
Ensembl Gene |
ENSMUSG00000023015 |
Gene Name |
Rac GTPase-activating protein 1 |
Synonyms |
gtl11, MgcRacGAP, GTPase, Band25 |
MMRRC Submission |
044098-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5899 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
99518377-99549504 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99521509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 549
(E549G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023756]
[ENSMUST00000168065]
[ENSMUST00000171702]
|
AlphaFold |
Q9WVM1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023756
AA Change: E549G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023756 Gene: ENSMUSG00000023015 AA Change: E549G
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 |
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: ENSMUST00000169700
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170369
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171702
AA Change: E549G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126417 Gene: ENSMUSG00000023015 AA Change: E549G
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 |
0.1293 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
Validation Efficiency |
93% (56/60) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
T |
C |
10: 20,876,465 (GRCm39) |
I792T |
probably benign |
Het |
Anks1b |
T |
A |
10: 90,759,379 (GRCm39) |
|
probably null |
Het |
Ano3 |
T |
G |
2: 110,693,232 (GRCm39) |
D122A |
probably benign |
Het |
Atp12a |
T |
C |
14: 56,610,801 (GRCm39) |
V315A |
probably benign |
Het |
B230104I21Rik |
G |
T |
4: 154,433,986 (GRCm39) |
G57* |
probably null |
Het |
Bpifb2 |
A |
G |
2: 153,733,050 (GRCm39) |
K378E |
probably damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,161,830 (GRCm39) |
|
probably benign |
Het |
Ceacam23 |
A |
G |
7: 17,651,369 (GRCm39) |
D840G |
possibly damaging |
Het |
Cflar |
A |
G |
1: 58,791,927 (GRCm39) |
D410G |
probably benign |
Het |
Clcn6 |
A |
G |
4: 148,102,049 (GRCm39) |
V345A |
probably benign |
Het |
Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
Ddx50 |
T |
A |
10: 62,476,596 (GRCm39) |
K226* |
probably null |
Het |
Dnah5 |
T |
C |
15: 28,448,513 (GRCm39) |
V4192A |
possibly damaging |
Het |
Dnah8 |
G |
A |
17: 30,875,659 (GRCm39) |
D494N |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,879,660 (GRCm39) |
C965S |
probably benign |
Het |
Dst |
C |
T |
1: 34,334,370 (GRCm39) |
A5083V |
probably damaging |
Het |
E130208F15Rik |
T |
C |
7: 30,021,726 (GRCm39) |
Q10R |
probably damaging |
Het |
Fbxw15 |
T |
C |
9: 109,384,741 (GRCm39) |
|
probably null |
Het |
Fxr2 |
A |
G |
11: 69,543,511 (GRCm39) |
N671D |
probably damaging |
Het |
Gbp7 |
A |
G |
3: 142,252,303 (GRCm39) |
T629A |
probably benign |
Het |
Grm1 |
T |
C |
10: 10,565,092 (GRCm39) |
Y1072C |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,244,685 (GRCm39) |
E714V |
possibly damaging |
Het |
Hsd17b13 |
T |
A |
5: 104,113,730 (GRCm39) |
E205D |
probably benign |
Het |
Igf2bp3 |
A |
G |
6: 49,094,084 (GRCm39) |
|
probably benign |
Het |
Il2ra |
A |
G |
2: 11,689,248 (GRCm39) |
H259R |
probably benign |
Het |
Klk15 |
G |
T |
7: 43,588,247 (GRCm39) |
R185L |
probably benign |
Het |
Map3k11 |
T |
G |
19: 5,745,937 (GRCm39) |
|
probably null |
Het |
Morn3 |
A |
G |
5: 123,179,166 (GRCm39) |
W95R |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,364,328 (GRCm39) |
|
probably null |
Het |
Nrap |
A |
T |
19: 56,329,006 (GRCm39) |
V1145D |
possibly damaging |
Het |
Or1e35 |
A |
G |
11: 73,797,755 (GRCm39) |
S188P |
probably damaging |
Het |
Or2l13b |
C |
T |
16: 19,349,551 (GRCm39) |
G40R |
probably damaging |
Het |
Or9k2 |
T |
A |
10: 129,998,542 (GRCm39) |
I218F |
probably benign |
Het |
Pdcd11 |
A |
G |
19: 47,093,198 (GRCm39) |
N492S |
possibly damaging |
Het |
Ptgfr |
C |
T |
3: 151,540,738 (GRCm39) |
V257I |
probably damaging |
Het |
Rfx3 |
T |
C |
19: 27,808,165 (GRCm39) |
T193A |
probably damaging |
Het |
Rplp0 |
T |
A |
5: 115,699,489 (GRCm39) |
I149N |
probably benign |
Het |
Samd7 |
T |
G |
3: 30,810,883 (GRCm39) |
I300S |
probably benign |
Het |
Scpep1 |
A |
G |
11: 88,825,402 (GRCm39) |
|
probably null |
Het |
Senp6 |
T |
C |
9: 80,049,352 (GRCm39) |
|
probably benign |
Het |
Serpinb2 |
G |
T |
1: 107,447,446 (GRCm39) |
G78V |
probably damaging |
Het |
Sesn1 |
T |
C |
10: 41,687,189 (GRCm39) |
S58P |
probably benign |
Het |
Skic3 |
A |
G |
13: 76,259,938 (GRCm39) |
|
probably null |
Het |
Spg11 |
T |
C |
2: 121,928,680 (GRCm39) |
D591G |
possibly damaging |
Het |
Spire2 |
A |
C |
8: 124,080,833 (GRCm39) |
S26R |
probably damaging |
Het |
Strip2 |
T |
A |
6: 29,956,957 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,697,519 (GRCm39) |
|
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,460,924 (GRCm39) |
Y750C |
probably damaging |
Het |
Wnt11 |
T |
A |
7: 98,488,383 (GRCm39) |
Y23* |
probably null |
Het |
Zbp1 |
T |
A |
2: 173,052,340 (GRCm39) |
D272V |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGACGGAATTTTCAAGTTGGTG -3'
(R):5'- AATAAGCCTTGCGTGGTGGG -3'
Sequencing Primer
(F):5'- TTAAGAGAGGGCCTCATGTAACCC -3'
(R):5'- TGGGTGAGCACATGCAG -3'
|
Posted On |
2017-02-15 |