Incidental Mutation 'R1248:Arhgap11a'
| ID |
152177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap11a
|
| Ensembl Gene |
ENSMUSG00000041219 |
| Gene Name |
Rho GTPase activating protein 11A |
| Synonyms |
GAP (1-12), 6530401L14Rik |
| MMRRC Submission |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
113661837-113679006 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113664447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 612
(H612L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000102545
AA Change: H612L
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: H612L
| 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 |
possibly damaging
Transcript: ENSMUST00000110949
AA Change: H612L
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: H612L
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,271,054 (GRCm39) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,847 (GRCm39) |
E219G |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,564,399 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ap5z1 |
C |
A |
5: 142,460,255 (GRCm39) |
S511R |
probably benign |
Het |
| Atp2b2 |
G |
T |
6: 113,794,153 (GRCm39) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,340,836 (GRCm39) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,599,481 (GRCm39) |
E773D |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,742,001 (GRCm39) |
M212V |
probably benign |
Het |
| Dmtn |
C |
T |
14: 70,850,098 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,832,887 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,410,358 (GRCm39) |
N184S |
probably benign |
Het |
| Fam98c |
A |
G |
7: 28,852,265 (GRCm39) |
M98T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,143,529 (GRCm39) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,820,107 (GRCm39) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 139,679,631 (GRCm39) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,288,617 (GRCm39) |
F23L |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,213 (GRCm39) |
R334L |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,758,228 (GRCm39) |
S712P |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,932,843 (GRCm39) |
S573I |
probably damaging |
Het |
| Lrp11 |
A |
G |
10: 7,480,058 (GRCm39) |
H371R |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,466,303 (GRCm39) |
I520N |
probably damaging |
Het |
| Nagpa |
G |
T |
16: 5,016,480 (GRCm39) |
C236* |
probably null |
Het |
| Nktr |
A |
G |
9: 121,556,436 (GRCm39) |
N38S |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,525,088 (GRCm39) |
R131C |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,211 (GRCm39) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,100,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,121,755 (GRCm39) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,513,084 (GRCm39) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,059,905 (GRCm39) |
G184C |
probably damaging |
Het |
| Slc25a46 |
C |
T |
18: 31,742,807 (GRCm39) |
D20N |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,622,509 (GRCm39) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,653,955 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,836,936 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,386,326 (GRCm39) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,443,008 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,643 (GRCm39) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,396 (GRCm39) |
E528G |
probably benign |
Het |
| Zfp52 |
A |
C |
17: 21,780,311 (GRCm39) |
E53A |
probably damaging |
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 |
|
IGL02532:Arhgap11a
|
APN |
2 |
113,664,021 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGTGACTGTTGCCTCGAAAG -3'
(R):5'- AATCACCAGTTGTGTCCTGTGAGC -3'
Sequencing Primer
(F):5'- CACCTTCATCTGAGTTGAGTAAC -3'
(R):5'- TCCGAGACCTTGCAGAAGAT -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation