Incidental Mutation 'R0947:Racgap1'
| ID |
81681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Racgap1
|
| Ensembl Gene |
ENSMUSG00000023015 |
| Gene Name |
Rac GTPase-activating protein 1 |
| Synonyms |
gtl11, MgcRacGAP, GTPase, Band25 |
| MMRRC Submission |
039086-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0947 (G1)
|
| Quality Score |
167 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99518377-99549504 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 99522195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 458
(A458T)
|
| 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: A458T
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023756
Gene: ENSMUSG00000023015
AA Change: A458T
| 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 |
noncoding transcript
Transcript: ENSMUST00000171017
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171702
AA Change: A458T
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126417
Gene: ENSMUSG00000023015
AA Change: A458T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.2%
- 10x: 95.4%
- 20x: 89.2%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
T |
18: 56,693,910 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
G |
9: 53,415,392 (GRCm39) |
V833A |
probably benign |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,814 (GRCm39) |
I180F |
probably damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,421,286 (GRCm39) |
S188P |
probably benign |
Het |
| Gdpd1 |
T |
G |
11: 86,928,707 (GRCm39) |
E240D |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Htt |
T |
C |
5: 35,056,268 (GRCm39) |
S2681P |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,774,865 (GRCm39) |
D40G |
probably benign |
Het |
| Krt18 |
A |
G |
15: 101,939,163 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,318,182 (GRCm39) |
P2090T |
probably damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,148,090 (GRCm39) |
D290G |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,809,619 (GRCm39) |
Y486* |
probably null |
Het |
| Mcm9 |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
10: 53,413,597 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
T |
12: 70,107,960 (GRCm39) |
C211S |
probably damaging |
Het |
| Npat |
A |
C |
9: 53,481,624 (GRCm39) |
I1111L |
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,879 (GRCm39) |
I287V |
probably benign |
Het |
| Or9i1b |
T |
A |
19: 13,896,535 (GRCm39) |
H50Q |
probably benign |
Het |
| Pbx1 |
A |
G |
1: 168,030,935 (GRCm39) |
S228P |
probably damaging |
Het |
| Pcsk7 |
G |
T |
9: 45,822,470 (GRCm39) |
R230L |
probably damaging |
Het |
| Prom2 |
G |
T |
2: 127,380,183 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Rsf1 |
T |
A |
7: 97,318,985 (GRCm39) |
C912S |
probably damaging |
Het |
| Setd2 |
G |
A |
9: 110,377,579 (GRCm39) |
E465K |
possibly damaging |
Het |
| Sgk2 |
T |
A |
2: 162,848,758 (GRCm39) |
D269E |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,536 (GRCm39) |
T11A |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,203,095 (GRCm39) |
S509T |
probably benign |
Het |
| Trim5 |
A |
T |
7: 103,914,958 (GRCm39) |
D370E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,715,574 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
C |
A |
17: 47,252,038 (GRCm39) |
G1501C |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r93 |
A |
T |
17: 18,524,343 (GRCm39) |
R112S |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,924,077 (GRCm39) |
Y222C |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,603,315 (GRCm39) |
Y198N |
probably benign |
Het |
| Xrn1 |
A |
T |
9: 95,880,316 (GRCm39) |
K752I |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp386 |
T |
C |
12: 116,023,398 (GRCm39) |
I372T |
probably benign |
Het |
| Zfp804a |
T |
C |
2: 82,089,062 (GRCm39) |
Y964H |
possibly damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATTGGGCACAGTATGGGCAAC -3'
(R):5'- TGCTGTCATGAACCGCATCAGAAG -3'
Sequencing Primer
(F):5'- TTGTAGGGCCAAAGACTTTAGC -3'
(R):5'- AAGTTTCAGAAGCTCCGTGTATAGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation