Mutagenetix > Incidental Mutation

Incidental Mutation 'R9428:Arhgap11a'

712716

Institutional Source

Beutler Lab

Gene Symbol

Arhgap11a

Ensembl Gene

ENSMUSG00000041219

Gene Name

Rho GTPase activating protein 11A

Synonyms

GAP (1-12), 6530401L14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9428 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113661837-113679006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113667279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 423 (V423I)

Ref Sequence

ENSEMBL: ENSMUSP00000106573 (fasta)

Gene Model

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

AlphaFold

Q80Y19

Predicted Effect

probably benign
Transcript: ENSMUST00000102545
AA Change: V423I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: V423I

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
AA Change: V423I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106572
Gene: ENSMUSG00000041219
AA Change: V423I

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
AA Change: V423I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106573
Gene: ENSMUSG00000041219
AA Change: V423I

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 benign
Transcript: ENSMUST00000110949
AA Change: V423I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: V423I

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Agmo	A	G	12: 37,455,330 (GRCm39)	I281M	probably benign	Het
Ahdc1	C	T	4: 132,791,773 (GRCm39)	P1005S	possibly damaging	Het
Akap12	T	A	10: 4,303,409 (GRCm39)	V178D	probably damaging	Het
Arc	A	G	15: 74,543,063 (GRCm39)	S387P	probably benign	Het
Arhgap44	A	G	11: 64,899,168 (GRCm39)	S670P	probably damaging	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
C4bp	A	T	1: 130,581,094 (GRCm39)	F138L	probably benign	Het
Carmil1	A	T	13: 24,295,834 (GRCm39)	C393*	probably null	Het
Cblif	A	G	19: 11,735,102 (GRCm39)	T241A	probably benign	Het
Celsr1	A	T	15: 85,815,549 (GRCm39)	V1822E	possibly damaging	Het
Chgb	C	G	2: 132,635,154 (GRCm39)	S365R	probably damaging	Het
Cnih3	T	C	1: 181,180,857 (GRCm39)		probably benign	Het
Dcaf1	T	A	9: 106,735,528 (GRCm39)	D825E	possibly damaging	Het
Dlx3	T	C	11: 95,011,430 (GRCm39)	Y95H	probably benign	Het
Dmbt1	A	T	7: 130,668,208 (GRCm39)	E488V	unknown	Het
Espnl	A	G	1: 91,273,595 (GRCm39)	Y985C	probably damaging	Het
Frmpd2	T	C	14: 33,272,010 (GRCm39)	V1048A	probably damaging	Het
Fxn	A	T	19: 24,249,787 (GRCm39)	L100Q	probably damaging	Het
Gapvd1	T	A	2: 34,607,318 (GRCm39)	D560V	probably damaging	Het
Gm4924	T	A	10: 82,213,490 (GRCm39)	H429Q	unknown	Het
Gpr158	T	C	2: 21,787,972 (GRCm39)	F538L	probably benign	Het
Itpr1	T	A	6: 108,378,308 (GRCm39)	M1278K	possibly damaging	Het
Ivd	T	A	2: 118,708,369 (GRCm39)	V361E	probably damaging	Het
Kcnh6	T	C	11: 105,899,821 (GRCm39)	L30P	probably damaging	Het
Lipo4	C	T	19: 33,495,074 (GRCm39)	V35I	probably benign	Het
Lmo7	A	G	14: 102,155,076 (GRCm39)	D1200G	probably damaging	Het
Med1	T	A	11: 98,080,049 (GRCm39)	R31*	probably null	Het
Mill2	A	T	7: 18,573,950 (GRCm39)	R12*	probably null	Het
Mphosph8	A	G	14: 56,934,114 (GRCm39)		probably null	Het
Mtfr2	T	A	10: 20,233,039 (GRCm39)	S203T	possibly damaging	Het
Muc5ac	A	C	7: 141,362,559 (GRCm39)	T1957P	unknown	Het
Mxi1	C	A	19: 53,299,213 (GRCm39)	P28Q	probably benign	Het
Mycbpap	T	C	11: 94,393,995 (GRCm39)	D367G	probably damaging	Het
Nav3	T	C	10: 109,605,176 (GRCm39)	T966A	probably benign	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Ndst2	A	T	14: 20,775,470 (GRCm39)	F673L	possibly damaging	Het
Ndst3	T	A	3: 123,340,518 (GRCm39)	I767F	probably benign	Het
Nell1	A	T	7: 50,503,683 (GRCm39)	D696V	probably damaging	Het
Nol9	A	T	4: 152,124,109 (GRCm39)	T100S	probably benign	Het
Nr4a1	T	C	15: 101,168,245 (GRCm39)	S94P	probably damaging	Het
Nrdc	T	C	4: 108,858,121 (GRCm39)	I31T	probably damaging	Het
Oas2	T	A	5: 120,887,576 (GRCm39)	D88V	probably damaging	Het
Or8w1	T	C	2: 87,465,774 (GRCm39)	I106V	probably benign	Het
Pex6	A	G	17: 47,022,991 (GRCm39)	H189R	probably benign	Het
Pgap1	A	G	1: 54,575,206 (GRCm39)	S239P	probably damaging	Het
Pheta1	C	T	5: 121,991,147 (GRCm39)	P170S	possibly damaging	Het
Plec	A	G	15: 76,067,721 (GRCm39)		probably null	Het
Plekhg5	T	C	4: 152,192,780 (GRCm39)	V582A	probably benign	Het
Plekhh2	G	T	17: 84,873,841 (GRCm39)	E375D	probably benign	Het
Pramel55	G	T	5: 95,949,545 (GRCm39)	R97S	probably damaging	Het
Prp2rt	A	G	13: 97,235,724 (GRCm39)	S8P	probably benign	Het
Psmd4	G	A	3: 94,940,767 (GRCm39)	T332I	probably benign	Het
Ptprc	T	A	1: 138,041,485 (GRCm39)	T76S	probably benign	Het
Rab44	A	T	17: 29,358,315 (GRCm39)	I168L		Het
Ros1	T	C	10: 51,958,061 (GRCm39)	T1872A	probably benign	Het
Scgb1b24	A	T	7: 33,443,493 (GRCm39)	K51*	probably null	Het
Scube2	A	T	7: 109,428,345 (GRCm39)	D509E	probably benign	Het
Sgo2b	A	T	8: 64,393,067 (GRCm39)	S123R	probably damaging	Het
Smc3	G	C	19: 53,617,150 (GRCm39)	R521P	possibly damaging	Het
Socs4	G	A	14: 47,528,034 (GRCm39)	R323H	probably damaging	Het
Socs5	T	A	17: 87,441,067 (GRCm39)	D2E	probably benign	Het
Sra1	A	G	18: 36,810,299 (GRCm39)	V121A	probably damaging	Het
Stimate	T	C	14: 30,594,645 (GRCm39)	S253P	probably benign	Het
Tanc1	T	C	2: 59,601,548 (GRCm39)	L143P	probably damaging	Het
Tcerg1l	A	T	7: 137,811,490 (GRCm39)	F568Y	probably damaging	Het
Trpm7	T	C	2: 126,671,140 (GRCm39)	E614G	probably damaging	Het
Tuba4a	G	T	1: 75,192,686 (GRCm39)	H337Q		Het
Tubgcp6	G	A	15: 88,985,100 (GRCm39)	H1663Y	probably damaging	Het
Ush2a	A	G	1: 188,175,316 (GRCm39)	Y1138C	probably damaging	Het
Vmn1r18	A	T	6: 57,367,535 (GRCm39)	N6K	possibly damaging	Het
Vmn1r213	G	A	13: 23,195,944 (GRCm39)	A176T		Het
Vmn1r215	A	T	13: 23,260,749 (GRCm39)	H263L	probably benign	Het
Vmn2r51	CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC	CGGC	7: 9,833,712 (GRCm39)		probably benign	Het
Wdhd1	A	C	14: 47,489,427 (GRCm39)	L702*	probably null	Het
Zc3h12a	T	C	4: 125,020,558 (GRCm39)	E95G	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
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
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'- CCATGATGTGAAGGGCTCTG -3'
(R):5'- GTTGGGCTTATACGTAATCCATTC -3'

Sequencing Primer
(F):5'- GCTCTGTAGCCACATCCTC -3'
(R):5'- GGGCTTATACGTAATCCATTCTAATG -3'

Posted On

2022-05-16