Mutagenetix > Incidental Mutation

Incidental Mutation 'R0480:Arhgap11a'

41895

Institutional Source

Beutler Lab

Gene Symbol

Arhgap11a

Ensembl Gene

ENSMUSG00000041219

Gene Name

Rho GTPase activating protein 11A

Synonyms

GAP (1-12), 6530401L14Rik

MMRRC Submission

038680-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0480 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113661837-113679006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113670163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 320 (I320N)

Ref Sequence

ENSEMBL: ENSMUSP00000106574 (fasta)

Gene Model

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

AlphaFold

Q80Y19

Predicted Effect

probably benign
Transcript: ENSMUST00000102545
AA Change: I320N

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: I320N

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: I320N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106572
Gene: ENSMUSG00000041219
AA Change: I320N

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: I320N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106573
Gene: ENSMUSG00000041219
AA Change: I320N

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: I320N

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: I320N

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

0.2727

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (117/118)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,012 (GRCm39)	L165F	probably damaging	Het
Adamts18	A	G	8: 114,465,450 (GRCm39)	V714A	possibly damaging	Het
Adamtsl1	G	T	4: 86,171,055 (GRCm39)	A518S	probably benign	Het
Adcy2	C	T	13: 68,880,231 (GRCm39)	V363M	probably damaging	Het
Ago4	G	T	4: 126,419,870 (GRCm39)	Q36K	probably benign	Het
Akr1a1	A	G	4: 116,497,044 (GRCm39)	V172A	possibly damaging	Het
Alkbh2	T	A	5: 114,263,596 (GRCm39)	N137I	probably damaging	Het
Ank3	T	A	10: 69,715,756 (GRCm39)	S470T	probably damaging	Het
Ankrd12	T	C	17: 66,356,823 (GRCm39)	T65A	possibly damaging	Het
Aox1	A	T	1: 58,082,810 (GRCm39)		probably benign	Het
Arhgap17	G	A	7: 122,893,867 (GRCm39)	H518Y	probably damaging	Het
Ascc3	T	C	10: 50,611,348 (GRCm39)	V1563A	probably damaging	Het
Atf2	G	A	2: 73,649,500 (GRCm39)		probably benign	Het
Bmpr2	C	T	1: 59,884,818 (GRCm39)	T268I	probably damaging	Het
Bpifb9a	A	G	2: 154,106,608 (GRCm39)	I380V	probably benign	Het
C2cd2	G	A	16: 97,678,348 (GRCm39)	T363I	probably benign	Het
Catsperg2	T	G	7: 29,420,723 (GRCm39)	N190H	probably damaging	Het
Ccdc138	T	C	10: 58,397,789 (GRCm39)	L543S	probably damaging	Het
Ccdc170	A	T	10: 4,468,939 (GRCm39)	K162N	probably benign	Het
Cdca5	G	T	19: 6,140,328 (GRCm39)	R163L	probably damaging	Het
Cdh24	A	G	14: 54,870,054 (GRCm39)	F239S	probably benign	Het
Cdkl3	T	C	11: 51,895,882 (GRCm39)	V43A	probably damaging	Het
Cep152	G	T	2: 125,423,639 (GRCm39)	Q921K	possibly damaging	Het
Cftr	G	A	6: 18,274,517 (GRCm39)		probably benign	Het
Chmp5	T	C	4: 40,948,690 (GRCm39)		probably benign	Het
Cit	T	A	5: 116,071,452 (GRCm39)		probably benign	Het
Cngb3	T	A	4: 19,309,517 (GRCm39)		probably benign	Het
Cnr2	A	G	4: 135,644,912 (GRCm39)	E330G	probably benign	Het
Cyp21a1	A	T	17: 35,020,800 (GRCm39)	L473Q	probably damaging	Het
Dchs1	T	C	7: 105,420,696 (GRCm39)	T575A	probably benign	Het
Dedd2	A	G	7: 24,903,050 (GRCm39)	V303A	probably damaging	Het
Dmd	G	T	X: 83,469,344 (GRCm39)	A2370S	probably benign	Het
Dnah10	T	A	5: 124,885,915 (GRCm39)	N3009K	probably damaging	Het
Dnajc13	G	T	9: 104,077,708 (GRCm39)	N934K	probably damaging	Het
Dock1	C	T	7: 134,339,447 (GRCm39)	L106F	probably damaging	Het
Fat3	A	G	9: 15,909,025 (GRCm39)	Y2326H	probably benign	Het
Fhl5	A	T	4: 25,207,101 (GRCm39)	C222*	probably null	Het
Gnmt	T	C	17: 47,036,854 (GRCm39)	T252A	probably benign	Het
Gpi-ps	A	G	8: 5,689,888 (GRCm39)		noncoding transcript	Het
Gsta5	C	T	9: 78,210,099 (GRCm39)	A135V	probably benign	Het
Gtf2f1	A	G	17: 57,311,307 (GRCm39)		probably null	Het
Gtf3a	T	C	5: 146,890,039 (GRCm39)	Y187H	probably damaging	Het
Hdac2	A	G	10: 36,850,788 (GRCm39)	Y14C	probably damaging	Het
Hnrnph1	T	G	11: 50,276,589 (GRCm39)		probably benign	Het
Homer2	T	C	7: 81,268,351 (GRCm39)	D92G	possibly damaging	Het
Hspg2	T	C	4: 137,277,335 (GRCm39)	S2885P	probably damaging	Het
Insr	A	G	8: 3,211,770 (GRCm39)	S1084P	probably damaging	Het
Ints11	T	A	4: 155,972,081 (GRCm39)	V362E	probably damaging	Het
Kank2	T	C	9: 21,691,195 (GRCm39)	N513S	probably damaging	Het
Kl	T	G	5: 150,876,753 (GRCm39)	V191G	probably damaging	Het
Krt23	A	G	11: 99,377,524 (GRCm39)		probably null	Het
Lama3	A	C	18: 12,583,481 (GRCm39)	T690P	possibly damaging	Het
Lamb1	G	A	12: 31,332,720 (GRCm39)	A281T	possibly damaging	Het
Lck	T	C	4: 129,449,433 (GRCm39)	E299G	probably damaging	Het
Lonrf1	A	G	8: 36,689,864 (GRCm39)	V703A	probably damaging	Het
Ly6f	T	C	15: 75,143,526 (GRCm39)	C78R	probably damaging	Het
Mapkap1	C	T	2: 34,423,793 (GRCm39)		probably benign	Het
Mast1	T	A	8: 85,639,718 (GRCm39)	I1204F	probably damaging	Het
Mbd6	C	T	10: 127,121,742 (GRCm39)		probably benign	Het
Mef2c	A	T	13: 83,741,020 (GRCm39)	T60S	probably damaging	Het
Mgat4c	C	T	10: 102,224,980 (GRCm39)	T398I	probably damaging	Het
Mmp12	C	A	9: 7,350,016 (GRCm39)	H102Q	probably damaging	Het
Mmp20	G	A	9: 7,645,374 (GRCm39)	G308E	probably damaging	Het
Mms19	A	T	19: 41,943,285 (GRCm39)	L395Q	probably damaging	Het
Mus81	A	G	19: 5,537,959 (GRCm39)		probably benign	Het
Mypn	C	T	10: 63,028,982 (GRCm39)	R27H	probably benign	Het
Nav3	T	C	10: 109,689,161 (GRCm39)	E372G	probably damaging	Het
Ncoa1	T	A	12: 4,389,105 (GRCm39)	I57F	probably damaging	Het
Ncstn	T	C	1: 171,910,159 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Notch2	C	T	3: 98,053,853 (GRCm39)	T2172I	possibly damaging	Het
Obscn	T	A	11: 59,024,772 (GRCm39)	K423*	probably null	Het
Or51l14	A	G	7: 103,100,835 (GRCm39)	N97S	probably benign	Het
Or5d37	A	C	2: 87,923,972 (GRCm39)	S103A	probably benign	Het
Or5k1	T	C	16: 58,617,684 (GRCm39)	N175S	probably benign	Het
Or9a2	A	T	6: 41,749,198 (GRCm39)	C12S	probably benign	Het
Ostm1	T	A	10: 42,572,343 (GRCm39)	M242K	probably damaging	Het
Oxnad1	T	A	14: 31,821,437 (GRCm39)	I154N	probably damaging	Het
Pcdhb10	T	A	18: 37,546,152 (GRCm39)	D409E	probably damaging	Het
Pdcd11	T	C	19: 47,113,476 (GRCm39)		probably benign	Het
Peak1	C	A	9: 56,165,916 (GRCm39)	V671L	probably benign	Het
Pex1	G	A	5: 3,656,444 (GRCm39)		probably null	Het
Plk4	T	A	3: 40,760,075 (GRCm39)	F324I	probably benign	Het
Poglut2	C	T	1: 44,149,917 (GRCm39)	W424*	probably null	Het
Ppfibp1	C	A	6: 146,920,529 (GRCm39)		probably null	Het
Prcp	T	A	7: 92,568,290 (GRCm39)	W276R	probably damaging	Het
Prr14l	T	C	5: 32,987,224 (GRCm39)	E757G	probably benign	Het
Prss52	T	A	14: 64,351,093 (GRCm39)	Y293N	probably damaging	Het
Prune2	A	G	19: 16,984,156 (GRCm39)		probably benign	Het
Ptprk	G	C	10: 28,461,943 (GRCm39)	A84P	probably damaging	Het
Ptprk	C	T	10: 28,461,944 (GRCm39)	A84V	probably damaging	Het
Rock1	A	G	18: 10,079,120 (GRCm39)	L1116P	possibly damaging	Het
Sdha	A	T	13: 74,475,452 (GRCm39)	F526Y	probably benign	Het
Sema4b	T	C	7: 79,869,954 (GRCm39)	F414S	probably damaging	Het
Serpina12	T	C	12: 104,001,960 (GRCm39)	D252G	probably damaging	Het
Siglecg	C	T	7: 43,060,550 (GRCm39)	A310V	probably benign	Het
Slc30a8	A	G	15: 52,188,966 (GRCm39)	I194V	probably benign	Het
Spred3	A	G	7: 28,862,400 (GRCm39)	S148P	probably damaging	Het
Taf9b	A	G	X: 105,262,014 (GRCm39)	S58P	probably damaging	Het
Tgm4	A	T	9: 122,891,484 (GRCm39)	Y109F	probably benign	Het
Tmprss11c	T	G	5: 86,385,468 (GRCm39)		probably benign	Het
Tmtc3	A	T	10: 100,307,266 (GRCm39)	V246D	probably damaging	Het
Tnip1	C	T	11: 54,828,820 (GRCm39)	G116R	probably damaging	Het
Tpr	A	G	1: 150,303,992 (GRCm39)	E1455G	possibly damaging	Het
Ttc3	T	A	16: 94,232,863 (GRCm39)	L986*	probably null	Het
Txndc15	A	G	13: 55,872,436 (GRCm39)	I275V	possibly damaging	Het
Ugt2b1	T	A	5: 87,074,315 (GRCm39)	I15L	probably benign	Het
Upf2	T	C	2: 5,962,445 (GRCm39)	V49A	possibly damaging	Het
Vmn1r117	G	A	7: 20,617,371 (GRCm39)	P226S	probably benign	Het
Vmn2r28	A	T	7: 5,493,456 (GRCm39)	H163Q	probably benign	Het
Vstm2a	T	A	11: 16,213,240 (GRCm39)	S208R	probably damaging	Het
Zfp346	T	A	13: 55,260,910 (GRCm39)	C79*	probably null	Het
Zfp628	A	T	7: 4,924,615 (GRCm39)	T946S	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
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

Predicted Primers

PCR Primer
(F):5'- AGCAATGTAACTTCTGGCTCCACTG -3'
(R):5'- AGCATTTGGACATGGCTAAACCTCAC -3'

Sequencing Primer
(F):5'- AGTTATTTGCTGAGAACCAGGC -3'
(R):5'- CATGTGTATGGAGAAGCAAGTCC -3'

Posted On

2013-05-23