Mutagenetix > Incidental Mutation

Incidental Mutation 'R1669:Arhgap11a'

187426

Institutional Source

Beutler Lab

Gene Symbol

Arhgap11a

Ensembl Gene

ENSMUSG00000041219

Gene Name

Rho GTPase activating protein 11A

Synonyms

GAP (1-12), 6530401L14Rik

MMRRC Submission

039705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1669 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113661837-113679006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113672257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 237 (D237G)

Ref Sequence

ENSEMBL: ENSMUSP00000106574 (fasta)

Gene Model

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

AlphaFold

Q80Y19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102545
AA Change: D237G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: D237G

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: D237G

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106572
Gene: ENSMUSG00000041219
AA Change: D237G

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: D237G

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106573
Gene: ENSMUSG00000041219
AA Change: D237G

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: D237G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: D237G

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

0.0841

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (85/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	C	9: 122,086,249 (GRCm39)	L258R	possibly damaging	Het
Ap3d1	A	G	10: 80,546,670 (GRCm39)		probably benign	Het
Aplp2	G	T	9: 31,079,029 (GRCm39)		probably benign	Het
Arhgef4	A	T	1: 34,771,239 (GRCm39)	H1182L	possibly damaging	Het
Ash1l	G	A	3: 88,974,549 (GRCm39)		probably null	Het
Bicdl1	C	A	5: 115,794,075 (GRCm39)	V224L	possibly damaging	Het
Cacna1h	C	A	17: 25,602,445 (GRCm39)	V1422L	probably damaging	Het
Card10	T	C	15: 78,678,153 (GRCm39)	E365G	probably benign	Het
Cd180	C	T	13: 102,841,998 (GRCm39)	T348I	probably damaging	Het
Cds2	T	A	2: 132,137,439 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,370,339 (GRCm39)	D601E	probably benign	Het
Coprs	C	T	8: 13,935,704 (GRCm39)	W12*	probably null	Het
Cpsf3	T	A	12: 21,355,332 (GRCm39)	M424K	probably damaging	Het
Cxcl13	T	A	5: 96,106,600 (GRCm39)	N57K	probably damaging	Het
Dact1	C	T	12: 71,365,547 (GRCm39)	T776M	probably damaging	Het
Depdc1a	A	G	3: 159,228,561 (GRCm39)	K438E	probably benign	Het
Dop1b	T	A	16: 93,566,548 (GRCm39)	S992T	probably damaging	Het
Dusp11	A	T	6: 85,927,008 (GRCm39)	H202Q	probably benign	Het
Ezr	T	C	17: 7,006,712 (GRCm39)	E584G	probably damaging	Het
F830104G03Rik	A	G	3: 56,797,998 (GRCm39)	V6A	unknown	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Gapvd1	T	G	2: 34,620,694 (GRCm39)		probably null	Het
Gm10267	T	C	18: 44,290,367 (GRCm39)	R47G	probably damaging	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Hfe	A	T	13: 23,890,110 (GRCm39)	L133*	probably null	Het
Hpcal4	T	C	4: 123,082,869 (GRCm39)	F72L	probably damaging	Het
Itgb4	G	A	11: 115,882,156 (GRCm39)	R825H	probably benign	Het
Kcnh8	T	A	17: 53,200,996 (GRCm39)	Y477N	probably damaging	Het
Kctd1	T	C	18: 15,195,517 (GRCm39)	N369D	possibly damaging	Het
Kdm1b	C	T	13: 47,222,024 (GRCm39)	R488C	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra8	A	T	6: 130,092,592 (GRCm39)	C236*	probably null	Het
Lca5l	T	C	16: 95,961,008 (GRCm39)	R485G	possibly damaging	Het
Lrrc2	A	G	9: 110,810,718 (GRCm39)	T363A	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,818,672 (GRCm39)	G1314D	possibly damaging	Het
Mmp10	A	T	9: 7,505,526 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,277,926 (GRCm39)	D273G	probably benign	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Msh4	C	T	3: 153,582,357 (GRCm39)	R417Q	possibly damaging	Het
Nedd9	A	T	13: 41,465,270 (GRCm39)	V790E	probably damaging	Het
Nlgn1	C	A	3: 25,490,298 (GRCm39)	L476F	probably damaging	Het
Nox4	C	A	7: 86,945,097 (GRCm39)	Q118K	probably benign	Het
Nxf1	A	G	19: 8,749,495 (GRCm39)	T131A	possibly damaging	Het
Oog3	C	A	4: 143,885,008 (GRCm39)	R309S	probably benign	Het
Oosp3	C	T	19: 11,678,378 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,479,920 (GRCm39)	T298S	probably benign	Het
Or2a7	T	A	6: 43,151,755 (GRCm39)	S278R	probably damaging	Het
Or2w6	A	T	13: 21,843,456 (GRCm39)	S12R	possibly damaging	Het
Or4c126	T	A	2: 89,824,144 (GRCm39)		probably null	Het
Or51a42	A	T	7: 103,708,516 (GRCm39)	S98T	probably benign	Het
Or5b97	A	T	19: 12,878,652 (GRCm39)	I164K	possibly damaging	Het
P2ry6	A	G	7: 100,587,630 (GRCm39)	V243A	probably damaging	Het
Pgc	C	A	17: 48,044,715 (GRCm39)	P321T	probably damaging	Het
Pramel22	T	G	4: 143,380,916 (GRCm39)	E369A	possibly damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Prkdc	T	A	16: 15,551,922 (GRCm39)	S2043T	probably damaging	Het
Rasal3	T	C	17: 32,622,072 (GRCm39)	N96D	possibly damaging	Het
Rnf4	T	C	5: 34,508,624 (GRCm39)	F162S	probably damaging	Het
Ros1	A	T	10: 52,037,907 (GRCm39)	N421K	probably damaging	Het
Rtn4rl1	A	G	11: 75,156,753 (GRCm39)	D395G	probably benign	Het
Scn8a	T	G	15: 100,909,001 (GRCm39)	V823G	probably damaging	Het
Sema3d	T	A	5: 12,558,051 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,037,307 (GRCm39)	I501T	probably damaging	Het
Slc12a7	C	T	13: 73,943,232 (GRCm39)	T382I	probably benign	Het
Slc16a12	T	A	19: 34,657,781 (GRCm39)	I41L	probably benign	Het
Slc1a1	C	A	19: 28,889,194 (GRCm39)	T489K	probably benign	Het
Slc24a3	C	T	2: 145,455,512 (GRCm39)	P467L	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Snai2	A	T	16: 14,524,908 (GRCm39)	Y138F	possibly damaging	Het
Sorcs1	A	C	19: 50,463,860 (GRCm39)	Y197D	probably damaging	Het
Sppl2a	T	A	2: 126,759,714 (GRCm39)		probably benign	Het
Srgap3	G	A	6: 112,699,865 (GRCm39)	P1038S	probably benign	Het
Ttn	T	C	2: 76,554,807 (GRCm39)	E30699G	probably damaging	Het
Vmn2r124	T	A	17: 18,283,206 (GRCm39)	M300K	possibly damaging	Het
Vwf	T	C	6: 125,624,869 (GRCm39)	S1873P	possibly damaging	Het
Wrap73	A	G	4: 154,240,588 (GRCm39)	D360G	probably damaging	Het
Zfp366	T	C	13: 99,366,069 (GRCm39)	M410T	probably damaging	Het
Zfp608	C	T	18: 55,120,811 (GRCm39)	V259I	probably benign	Het
Zfp69	C	T	4: 120,804,695 (GRCm39)		probably benign	Het
Zfp995	T	C	17: 22,098,945 (GRCm39)	T430A	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
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'- TCAAAGCCTTCCAGGGATGGAGTAG -3'
(R):5'- GCCAGTCATGTGGGTGGATATACAG -3'

Sequencing Primer
(F):5'- GGATAAAATCTGGCACTCGTC -3'
(R):5'- GTTTTCCTTTCAGGTAACAGGC -3'

Posted On

2014-05-09