Incidental Mutation 'IGL02532:Arhgap11a'
| ID |
297341 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgap11a
|
| Ensembl Gene |
ENSMUSG00000041219 |
| Gene Name |
Rho GTPase activating protein 11A |
| Synonyms |
GAP (1-12), 6530401L14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02532
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
113661837-113679006 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 113664021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 754
(S754*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024005]
[ENSMUST00000102545]
[ENSMUST00000110947]
[ENSMUST00000110948]
[ENSMUST00000110949]
|
| AlphaFold |
Q80Y19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024005
|
| SMART Domains |
Protein: ENSMUSP00000024005
Gene: ENSMUSG00000023236
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Secretogranin_V
|
23 |
160 |
4e-13 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102545
AA Change: S754*
|
| SMART Domains |
Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: S754*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
RhoGAP
|
63 |
236 |
1.97e-47 |
SMART |
|
Blast:RhoGAP
|
288 |
349 |
3e-20 |
BLAST |
|
low complexity region
|
490 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
738 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110947
|
| SMART Domains |
Protein: ENSMUSP00000106572
Gene: ENSMUSG00000041219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
RhoGAP
|
63 |
236 |
1.97e-47 |
SMART |
|
Blast:RhoGAP
|
288 |
349 |
7e-21 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110948
|
| SMART Domains |
Protein: ENSMUSP00000106573
Gene: ENSMUSG00000041219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
RhoGAP
|
63 |
236 |
1.97e-47 |
SMART |
|
Blast:RhoGAP
|
288 |
349 |
6e-21 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110949
AA Change: S754*
|
| SMART Domains |
Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: S754*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
RhoGAP
|
63 |
236 |
1.97e-47 |
SMART |
|
Blast:RhoGAP
|
288 |
349 |
3e-20 |
BLAST |
|
low complexity region
|
490 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
738 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139975
|
| 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 member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
T |
C |
7: 28,947,645 (GRCm39) |
K15E |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,325,148 (GRCm39) |
T381A |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,094,737 (GRCm39) |
N554K |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,092,453 (GRCm39) |
I605V |
possibly damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,166,391 (GRCm39) |
D319V |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,474,327 (GRCm39) |
D2410G |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,419,063 (GRCm39) |
|
probably null |
Het |
| Catip |
A |
G |
1: 74,403,775 (GRCm39) |
N189S |
probably damaging |
Het |
| Cd177 |
T |
C |
7: 24,444,674 (GRCm39) |
K636E |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,380,927 (GRCm39) |
T145A |
probably benign |
Het |
| Cthrc1 |
T |
C |
15: 38,940,560 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fas |
C |
A |
19: 34,293,999 (GRCm39) |
T118N |
probably damaging |
Het |
| Fgd3 |
G |
A |
13: 49,439,237 (GRCm39) |
A253V |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,161,277 (GRCm39) |
|
probably benign |
Het |
| Fubp3 |
T |
C |
2: 31,490,571 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
A |
3: 80,614,306 (GRCm39) |
E578V |
probably damaging |
Het |
| Gtpbp1 |
T |
A |
15: 79,604,278 (GRCm39) |
V662E |
probably benign |
Het |
| Hbb-bt |
T |
C |
7: 103,463,081 (GRCm39) |
|
probably benign |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,424 (GRCm39) |
D50V |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,524,010 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,181,216 (GRCm39) |
N141D |
probably damaging |
Het |
| Kbtbd8 |
A |
G |
6: 95,103,517 (GRCm39) |
T389A |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,775,832 (GRCm39) |
R242L |
possibly damaging |
Het |
| Kmt2b |
T |
C |
7: 30,286,314 (GRCm39) |
|
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,195 (GRCm39) |
L262Q |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,171 (GRCm39) |
K270E |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,577,788 (GRCm39) |
S297P |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,209,298 (GRCm39) |
R22C |
probably damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,109,398 (GRCm39) |
S115T |
possibly damaging |
Het |
| Nup50l |
A |
C |
6: 96,141,771 (GRCm39) |
S424R |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,406,209 (GRCm39) |
R153S |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Psme1 |
T |
A |
14: 55,818,595 (GRCm39) |
Y223* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,124,836 (GRCm39) |
|
probably null |
Het |
| Rnf103 |
A |
G |
6: 71,486,809 (GRCm39) |
D480G |
probably benign |
Het |
| Rnf103 |
T |
G |
6: 71,486,636 (GRCm39) |
S422R |
probably damaging |
Het |
| Rps6ka2 |
T |
C |
17: 7,523,365 (GRCm39) |
V213A |
probably damaging |
Het |
| Sort1 |
G |
T |
3: 108,233,036 (GRCm39) |
K203N |
probably benign |
Het |
| Sugp1 |
A |
T |
8: 70,512,469 (GRCm39) |
K239N |
possibly damaging |
Het |
| Sult2a8 |
C |
T |
7: 14,150,183 (GRCm39) |
R176K |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,320,291 (GRCm39) |
N888K |
probably damaging |
Het |
| Vmn1r4 |
A |
C |
6: 56,934,135 (GRCm39) |
H213P |
possibly damaging |
Het |
| Wdr45b |
G |
T |
11: 121,219,639 (GRCm39) |
T303K |
probably benign |
Het |
|
| Other mutations in Arhgap11a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Arhgap11a
|
APN |
2 |
113,664,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00337:Arhgap11a
|
APN |
2 |
113,672,287 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00532:Arhgap11a
|
APN |
2 |
113,664,411 (GRCm39) |
missense |
probably benign |
|
|
IGL00869:Arhgap11a
|
APN |
2 |
113,665,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01123:Arhgap11a
|
APN |
2 |
113,665,118 (GRCm39) |
splice site |
probably benign |
|
|
IGL01353:Arhgap11a
|
APN |
2 |
113,663,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01725:Arhgap11a
|
APN |
2 |
113,667,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01911:Arhgap11a
|
APN |
2 |
113,671,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02077:Arhgap11a
|
APN |
2 |
113,667,816 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02553:Arhgap11a
|
APN |
2 |
113,667,906 (GRCm39) |
splice site |
probably benign |
|
|
IGL02738:Arhgap11a
|
APN |
2 |
113,663,320 (GRCm39) |
makesense |
probably null |
|
|
IGL02945:Arhgap11a
|
APN |
2 |
113,667,818 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0480:Arhgap11a
|
UTSW |
2 |
113,670,163 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0515:Arhgap11a
|
UTSW |
2 |
113,667,816 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0625:Arhgap11a
|
UTSW |
2 |
113,672,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0898:Arhgap11a
|
UTSW |
2 |
113,667,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1248:Arhgap11a
|
UTSW |
2 |
113,664,447 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1395:Arhgap11a
|
UTSW |
2 |
113,663,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1669:Arhgap11a
|
UTSW |
2 |
113,672,257 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2915:Arhgap11a
|
UTSW |
2 |
113,663,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3941:Arhgap11a
|
UTSW |
2 |
113,667,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4194:Arhgap11a
|
UTSW |
2 |
113,672,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4508:Arhgap11a
|
UTSW |
2 |
113,672,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Arhgap11a
|
UTSW |
2 |
113,664,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4839:Arhgap11a
|
UTSW |
2 |
113,672,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Arhgap11a
|
UTSW |
2 |
113,670,107 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5507:Arhgap11a
|
UTSW |
2 |
113,672,023 (GRCm39) |
missense |
probably benign |
|
|
R5538:Arhgap11a
|
UTSW |
2 |
113,667,875 (GRCm39) |
missense |
probably benign |
|
|
R5660:Arhgap11a
|
UTSW |
2 |
113,672,255 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5712:Arhgap11a
|
UTSW |
2 |
113,675,646 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5849:Arhgap11a
|
UTSW |
2 |
113,665,192 (GRCm39) |
missense |
probably null |
0.01 |
|
R5856:Arhgap11a
|
UTSW |
2 |
113,664,116 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6101:Arhgap11a
|
UTSW |
2 |
113,665,219 (GRCm39) |
nonsense |
probably null |
|
|
R6119:Arhgap11a
|
UTSW |
2 |
113,664,695 (GRCm39) |
missense |
probably benign |
|
|
R6338:Arhgap11a
|
UTSW |
2 |
113,664,070 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6563:Arhgap11a
|
UTSW |
2 |
113,664,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6919:Arhgap11a
|
UTSW |
2 |
113,670,054 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7798:Arhgap11a
|
UTSW |
2 |
113,673,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7819:Arhgap11a
|
UTSW |
2 |
113,665,263 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8208:Arhgap11a
|
UTSW |
2 |
113,673,284 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8806:Arhgap11a
|
UTSW |
2 |
113,665,107 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9026:Arhgap11a
|
UTSW |
2 |
113,664,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9150:Arhgap11a
|
UTSW |
2 |
113,673,614 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9428:Arhgap11a
|
UTSW |
2 |
113,667,279 (GRCm39) |
missense |
probably benign |
|
|
R9578:Arhgap11a
|
UTSW |
2 |
113,670,125 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0065:Arhgap11a
|
UTSW |
2 |
113,664,576 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1088:Arhgap11a
|
UTSW |
2 |
113,673,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Arhgap11a
|
UTSW |
2 |
113,664,103 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Posted On |
2015-04-16 |
Incidental Mutation