Mutagenetix > Incidental Mutation

Incidental Mutation 'R4839:Arhgap11a'

371603

Institutional Source

Beutler Lab

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 #

R4839 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113661837-113679006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113672374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 198 (I198K)

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: I198K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099604
Gene: ENSMUSG00000041219
AA Change: I198K

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: I198K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106572
Gene: ENSMUSG00000041219
AA Change: I198K

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 damaging
Transcript: ENSMUST00000110948
AA Change: I198K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106573
Gene: ENSMUSG00000041219
AA Change: I198K

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: I198K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106574
Gene: ENSMUSG00000041219
AA Change: I198K

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,845 (GRCm39)	S467T	probably benign	Het
2310030G06Rik	A	T	9: 50,652,023 (GRCm39)	Y68*	probably null	Het
Abat	T	G	16: 8,401,512 (GRCm39)		probably benign	Het
Abca2	C	T	2: 25,330,921 (GRCm39)	S1203F	probably damaging	Het
Adam22	G	A	5: 8,186,813 (GRCm39)	P436L	probably damaging	Het
Ak3	A	C	19: 29,025,132 (GRCm39)	L33R	probably damaging	Het
Arl14epl	A	T	18: 47,065,544 (GRCm39)	K103M	possibly damaging	Het
Atg16l1	T	A	1: 87,693,896 (GRCm39)	N65K	probably damaging	Het
Btnl2	G	A	17: 34,584,260 (GRCm39)	W394*	probably null	Het
Cacna1e	C	A	1: 154,296,804 (GRCm39)	R1687L	probably damaging	Het
Cacna1g	G	T	11: 94,350,433 (GRCm39)	R471S	probably benign	Het
Cdh13	A	T	8: 119,578,587 (GRCm39)	R205*	probably null	Het
Cdkl3	A	T	11: 51,895,861 (GRCm39)	Y36F	probably damaging	Het
Cep290	T	A	10: 100,344,648 (GRCm39)	N488K	probably damaging	Het
Cep350	A	T	1: 155,804,240 (GRCm39)	C948S	probably benign	Het
Cep70	A	G	9: 99,178,138 (GRCm39)	K446R	probably benign	Het
Cfap70	T	C	14: 20,475,597 (GRCm39)	T375A	probably damaging	Het
Cfhr1	A	G	1: 139,487,871 (GRCm39)	L9S	probably damaging	Het
Chrm4	T	A	2: 91,757,952 (GRCm39)	M120K	probably damaging	Het
Col1a1	A	G	11: 94,840,921 (GRCm39)		probably null	Het
Col3a1	T	C	1: 45,362,963 (GRCm39)		probably null	Het
Csrnp3	A	T	2: 65,852,375 (GRCm39)	R256*	probably null	Het
Dbf4	T	A	5: 8,458,263 (GRCm39)	K190*	probably null	Het
Dnah10	A	T	5: 124,850,196 (GRCm39)	I1573F	probably damaging	Het
Dock8	A	G	19: 25,146,858 (GRCm39)	I1446V	probably benign	Het
Dst	G	T	1: 34,229,943 (GRCm39)	R2187M	probably damaging	Het
Ece2	C	T	16: 20,449,918 (GRCm39)	R257C	probably damaging	Het
Espn	A	G	4: 152,222,961 (GRCm39)	Y306H	probably damaging	Het
Fkbpl	G	A	17: 34,864,839 (GRCm39)	M202I	probably benign	Het
Fn1	A	G	1: 71,681,242 (GRCm39)	L362P	probably damaging	Het
Ganc	A	C	2: 120,290,304 (GRCm39)	R880S	probably benign	Het
Gucy1b2	A	T	14: 62,685,695 (GRCm39)	L90Q	probably damaging	Het
Hcn1	T	A	13: 118,062,246 (GRCm39)	I504N	unknown	Het
Hdac2	C	A	10: 36,873,462 (GRCm39)	T352K	probably benign	Het
Hip1	T	C	5: 135,455,172 (GRCm39)		probably null	Het
Hspa13	G	A	16: 75,562,169 (GRCm39)	S10L	probably damaging	Het
Ipo5	T	C	14: 121,157,450 (GRCm39)	I96T	probably benign	Het
Isl1	T	C	13: 116,438,220 (GRCm39)	Y264C	probably damaging	Het
Izumo1	T	C	7: 45,275,657 (GRCm39)	I322T	probably benign	Het
Kars1	A	C	8: 112,729,158 (GRCm39)	V183G	possibly damaging	Het
Lrrc15	C	A	16: 30,093,086 (GRCm39)	M84I	probably benign	Het
Magi1	A	T	6: 93,671,177 (GRCm39)	V796E	probably damaging	Het
Matn4	G	T	2: 164,242,896 (GRCm39)	D67E	probably benign	Het
Mertk	A	G	2: 128,624,496 (GRCm39)	M636V	probably damaging	Het
Mettl27	C	A	5: 134,963,266 (GRCm39)	P126T	probably damaging	Het
Mfrp	T	A	9: 44,013,432 (GRCm39)	H52Q	possibly damaging	Het
Mrgprb8	T	G	7: 48,038,656 (GRCm39)	I109R	probably benign	Het
Mroh2a	G	A	1: 88,165,666 (GRCm39)	G512S	probably damaging	Het
Ncoa7	T	A	10: 30,598,655 (GRCm39)	R89S	possibly damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nin	G	T	12: 70,137,325 (GRCm39)	H84N	possibly damaging	Het
Nwd2	A	T	5: 63,962,893 (GRCm39)	I826F	possibly damaging	Het
Or10d1	A	G	9: 39,484,441 (GRCm39)	M38T	probably benign	Het
Or14c43	T	C	7: 86,115,117 (GRCm39)	F166S	probably damaging	Het
Or1j11	G	A	2: 36,312,012 (GRCm39)	V201I	probably benign	Het
Or4l15	C	T	14: 50,197,646 (GRCm39)	M294I	probably benign	Het
Or52a5b	T	C	7: 103,416,961 (GRCm39)	I214M	possibly damaging	Het
Or5k3	A	G	16: 58,969,393 (GRCm39)	Y60C	probably damaging	Het
Or5p73	T	C	7: 108,064,938 (GRCm39)	S136P	probably benign	Het
Otof	C	T	5: 30,576,748 (GRCm39)	R168H	probably damaging	Het
Pcdha6	T	C	18: 37,101,485 (GRCm39)	V226A	possibly damaging	Het
Pggt1b	T	C	18: 46,391,166 (GRCm39)	I200V	possibly damaging	Het
Ppat	G	A	5: 77,098,811 (GRCm39)	Q41*	probably null	Het
Ppfibp2	A	T	7: 107,342,192 (GRCm39)	H27L	probably damaging	Het
Rbm27	T	A	18: 42,460,510 (GRCm39)	I775N	probably damaging	Het
Rnf40	C	T	7: 127,191,812 (GRCm39)	R349*	probably null	Het
Rtp3	A	T	9: 110,818,544 (GRCm39)	W46R	probably damaging	Het
Sass6	C	T	3: 116,403,949 (GRCm39)	R196W	probably damaging	Het
Sel1l	A	T	12: 91,799,932 (GRCm39)	D131E	probably benign	Het
Slain2	T	C	5: 73,106,066 (GRCm39)	S234P	probably damaging	Het
Slc47a1	C	T	11: 61,264,176 (GRCm39)		probably null	Het
Sp140	CAGAAGAAG	CAGAAG	1: 85,538,529 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,724,440 (GRCm39)	T247A	probably benign	Het
Spef2	A	T	15: 9,713,264 (GRCm39)	Y369*	probably null	Het
Spred2	T	A	11: 19,948,233 (GRCm39)	M76K	possibly damaging	Het
Svs5	T	A	2: 164,078,806 (GRCm39)	D367V	probably benign	Het
Tasor2	G	A	13: 3,634,807 (GRCm39)	P667S	probably damaging	Het
Tefm	A	T	11: 80,027,947 (GRCm39)	D270E	probably benign	Het
Tfcp2l1	C	A	1: 118,597,194 (GRCm39)	P425H	probably benign	Het
Thbd	A	T	2: 148,248,591 (GRCm39)	C426S	probably damaging	Het
Timm10b	T	A	7: 105,333,219 (GRCm39)	D968E	probably damaging	Het
Tle2	C	T	10: 81,413,518 (GRCm39)	T119I	probably damaging	Het
Tnik	T	A	3: 28,650,224 (GRCm39)	Y446N	possibly damaging	Het
Tpr	T	A	1: 150,324,948 (GRCm39)	L2400*	probably null	Het
Trrap	T	C	5: 144,782,402 (GRCm39)	F3328S	probably damaging	Het
Vldlr	G	A	19: 27,215,465 (GRCm39)	C154Y	probably damaging	Het
Vmn1r79	T	G	7: 11,910,361 (GRCm39)	M81R	probably benign	Het
Vps13d	T	C	4: 144,812,000 (GRCm39)	T3305A	possibly damaging	Het
Wdr62	T	C	7: 29,970,111 (GRCm39)	E232G	probably damaging	Het
Wdr62	T	A	7: 29,940,890 (GRCm39)	I843F	probably benign	Het
Zfp747l1	T	C	7: 126,984,179 (GRCm39)	S308G	probably benign	Het
Zfp873	T	A	10: 81,896,353 (GRCm39)	H361Q	probably damaging	Het
Zfp949	A	C	9: 88,452,047 (GRCm39)	H539P	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
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
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'- TGCCAGAGCACAGGTACTAG -3'
(R):5'- CCAGTCATGTGGGTGGATATACAG -3'

Sequencing Primer
(F):5'- AGCACAGGTACTAGTATTGCC -3'
(R):5'- CAGGGCTGTTTTCCTTTCAGGTAAC -3'

Posted On

2016-03-01