Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00869:Arhgap11a'

9016

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) question?

Stock #

IGL00869

Quality Score

Status

Chromosome

Chromosomal Location

113661837-113679006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113665171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 476 (T476A)

Ref Sequence

ENSEMBL: ENSMUSP00000106574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102545] [ENSMUST00000110947] [ENSMUST00000110948] [ENSMUST00000110949]

AlphaFold

Q80Y19

Predicted Effect

probably damaging
Transcript: ENSMUST00000102545
AA Change: T476A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: T476A

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 damaging
Transcript: ENSMUST00000110947
AA Change: T476A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106572
Gene: ENSMUSG00000041219
AA Change: T476A

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 damaging
Transcript: ENSMUST00000110949
AA Change: T476A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: T476A

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

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: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AW551984	A	G	9: 39,504,730 (GRCm39)		probably benign	Het
Gcn1	T	A	5: 115,726,202 (GRCm39)		probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Il36a	A	G	2: 24,106,592 (GRCm39)	T59A	probably benign	Het
Nrm	A	G	17: 36,175,647 (GRCm39)	H251R	probably benign	Het
Sp7	G	T	15: 102,267,086 (GRCm39)	A240E	probably benign	Het
Speer4b	T	C	5: 27,703,716 (GRCm39)	K141R	probably damaging	Het
Tmem132c	C	T	5: 127,640,306 (GRCm39)	H826Y	possibly 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
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
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

2012-12-06