Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02105:Xirp1'

279949

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xirp1

Ensembl Gene

ENSMUSG00000079243

Gene Name

xin actin-binding repeat containing 1

Synonyms

Cmya1, Xin, mXin alpha

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

IGL02105

Quality Score

Status

Chromosome

Chromosomal Location

120013755-120023598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120016997 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 940 (G940E)

Ref Sequence

ENSEMBL: ENSMUSP00000107262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111635] [ENSMUST00000177637] [ENSMUST00000213113]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000111635
AA Change: G940E

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

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: G940E

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
Pfam:Xin	89	104	1.7e-9	PFAM
Pfam:Xin	151	166	2.1e-9	PFAM
Pfam:Xin	186	201	1.6e-9	PFAM
Pfam:Xin	266	279	4.8e-9	PFAM
Pfam:Xin	303	317	1.1e-10	PFAM
Pfam:Xin	341	355	5.6e-8	PFAM
Pfam:Xin	376	391	6.7e-11	PFAM
Pfam:Xin	511	526	1.5e-12	PFAM
Pfam:Xin	549	563	2.6e-11	PFAM
Pfam:Xin	593	607	5.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177637

SMART Domains

Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336

Domain	Start	End	E-Value	Type
Pfam:7tm_1	49	294	3.5e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213113

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice exhibit cardiac hypertrophy and a disruption of cardiac intercalated disc structure and myofilament abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	T	3: 95,680,064	P734H	probably damaging	Het
Arfip2	A	T	7: 105,639,383	I14N	probably damaging	Het
Asap3	G	T	4: 136,228,474		probably null	Het
Atg2a	T	A	19: 6,250,403		probably benign	Het
Bbs12	T	C	3: 37,320,147	L248P	probably damaging	Het
Brd3	A	T	2: 27,459,776	I255N	probably damaging	Het
Ccdc141	A	G	2: 77,049,577		probably null	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Chd9	T	A	8: 90,932,488	D25E	probably damaging	Het
Cobl	T	C	11: 12,249,651	K1325R	probably damaging	Het
Dnmt1	T	A	9: 20,907,882	E1486V	unknown	Het
Dock2	T	C	11: 34,714,525	N256D	probably damaging	Het
Dpp3	G	A	19: 4,916,771	S408L	probably damaging	Het
Dync2h1	C	T	9: 7,075,892	G2992R	probably damaging	Het
Eef1a1	T	C	9: 78,480,551	D35G	probably benign	Het
Fntb	A	G	12: 76,862,489	K84E	probably benign	Het
Gfi1	A	G	5: 107,723,722		probably null	Het
Glb1l3	T	A	9: 26,818,527	I516F	probably damaging	Het
Hltf	A	G	3: 20,092,757	N560S	probably damaging	Het
Kif21b	A	G	1: 136,171,303	N1443S	probably benign	Het
Knl1	T	A	2: 119,071,808	I1330K	probably benign	Het
Krt20	C	T	11: 99,438,001	V33M	probably benign	Het
Lao1	A	G	4: 118,968,443	T487A	probably damaging	Het
Larp4	A	G	15: 99,986,071	E63G	probably damaging	Het
Lrp1	A	G	10: 127,544,579	V3901A	probably damaging	Het
Lrrc17	A	G	5: 21,570,257	I272M	probably benign	Het
Malrd1	A	T	2: 16,127,863	Q1865L	unknown	Het
Mtg1	T	C	7: 140,150,206	L305P	probably damaging	Het
Mylk4	T	A	13: 32,720,562	E427D	probably benign	Het
Myom1	G	T	17: 71,047,716		probably benign	Het
Nbeal1	A	G	1: 60,253,501	E1104G	probably damaging	Het
Obox5	A	G	7: 15,758,575	M152V	probably benign	Het
Olfm2	C	T	9: 20,672,180	V203M	probably damaging	Het
Olfr166	T	G	16: 19,487,261	L141R	probably benign	Het
Olfr876	A	T	9: 37,804,595	H228L	possibly damaging	Het
Pf4	A	G	5: 90,773,255	S105G	probably damaging	Het
Phlpp2	T	A	8: 109,904,408	I228N	probably damaging	Het
Sall1	T	G	8: 89,032,568	S303R	probably damaging	Het
Setd5	A	G	6: 113,117,580	E486G	probably damaging	Het
Slc9a5	C	T	8: 105,349,443	P23S	probably damaging	Het
Tbc1d9b	T	A	11: 50,149,826	I390N	probably damaging	Het
Trp53	T	C	11: 69,588,503	V169A	probably damaging	Het
Usp4	A	G	9: 108,384,932	D791G	probably damaging	Het
Vmn1r76	A	G	7: 11,930,490	S266P	possibly damaging	Het
Vmn2r27	A	G	6: 124,197,349		probably benign	Het
Zfp407	A	T	18: 84,562,720	C89*	probably null	Het

Other mutations in Xirp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01814:Xirp1	APN	9	120017919	missense	probably damaging	1.00
IGL03365:Xirp1	APN	9	120018539	missense	probably damaging	0.99
busybody	UTSW	9	120019753	missense	possibly damaging	0.92
Buzzer	UTSW	9	120018491	missense	probably damaging	1.00
cornflower	UTSW	9	120019815	start codon destroyed	probably null	0.89
R0006:Xirp1	UTSW	9	120017454	missense	probably benign	0.01
R0320:Xirp1	UTSW	9	120016467	missense	probably benign	0.00
R0881:Xirp1	UTSW	9	120018417	missense	possibly damaging	0.69
R1220:Xirp1	UTSW	9	120017916	missense	possibly damaging	0.95
R1707:Xirp1	UTSW	9	120018775	missense	possibly damaging	0.53
R1783:Xirp1	UTSW	9	120016907	missense	probably benign
R1785:Xirp1	UTSW	9	120016907	missense	probably benign
R1978:Xirp1	UTSW	9	120018591	missense	probably benign	0.00
R1983:Xirp1	UTSW	9	120016629	nonsense	probably null
R2064:Xirp1	UTSW	9	120016896	missense	probably benign	0.00
R2860:Xirp1	UTSW	9	120018378	missense	probably benign	0.04
R2860:Xirp1	UTSW	9	120019815	start codon destroyed	probably null	0.89
R2861:Xirp1	UTSW	9	120019815	start codon destroyed	probably null	0.89
R2861:Xirp1	UTSW	9	120018378	missense	probably benign	0.04
R2919:Xirp1	UTSW	9	120018701	missense	possibly damaging	0.81
R3013:Xirp1	UTSW	9	120019785	missense	probably benign
R3704:Xirp1	UTSW	9	120016907	missense	probably benign	0.04
R3898:Xirp1	UTSW	9	120019340	missense	probably benign	0.00
R3981:Xirp1	UTSW	9	120017744	missense	probably damaging	0.98
R4609:Xirp1	UTSW	9	120016506	missense	probably benign
R4613:Xirp1	UTSW	9	120019682	missense	probably damaging	1.00
R4660:Xirp1	UTSW	9	120016992	missense	probably damaging	1.00
R4703:Xirp1	UTSW	9	120017027	missense	probably damaging	1.00
R4825:Xirp1	UTSW	9	120017003	missense	possibly damaging	0.77
R4993:Xirp1	UTSW	9	120018792	missense	probably damaging	1.00
R5297:Xirp1	UTSW	9	120019602	missense	probably damaging	1.00
R5939:Xirp1	UTSW	9	120018509	missense	probably benign	0.01
R6091:Xirp1	UTSW	9	120017963	missense	probably benign	0.01
R6290:Xirp1	UTSW	9	120018725	missense	probably benign
R6376:Xirp1	UTSW	9	120018491	missense	probably damaging	1.00
R6515:Xirp1	UTSW	9	120016917	missense	probably benign	0.00
R6616:Xirp1	UTSW	9	120019014	missense	probably damaging	0.98
R6976:Xirp1	UTSW	9	120017918	missense	probably damaging	1.00
R7165:Xirp1	UTSW	9	120019047	missense	probably damaging	1.00
R7471:Xirp1	UTSW	9	120019110	nonsense	probably null
R7744:Xirp1	UTSW	9	120016846	missense	possibly damaging	0.77
R7847:Xirp1	UTSW	9	120019753	missense	possibly damaging	0.92
R8010:Xirp1	UTSW	9	120017824	missense	probably benign	0.00
R8371:Xirp1	UTSW	9	120019433	missense	possibly damaging	0.78
R8868:Xirp1	UTSW	9	120017805	missense	probably benign
R9165:Xirp1	UTSW	9	120018236	missense	probably benign	0.05
R9342:Xirp1	UTSW	9	120016884	missense	probably benign
R9440:Xirp1	UTSW	9	120018137	missense	probably damaging	1.00
V8831:Xirp1	UTSW	9	120016907	missense	probably benign
X0025:Xirp1	UTSW	9	120019155	missense	probably damaging	1.00
Z1088:Xirp1	UTSW	9	120016907	missense	probably benign
Z1176:Xirp1	UTSW	9	120016880	missense	probably damaging	0.96
Z1176:Xirp1	UTSW	9	120016907	missense	probably benign
Z1177:Xirp1	UTSW	9	120016907	missense	probably benign
Z1177:Xirp1	UTSW	9	120017154	missense	probably damaging	0.99

Posted On

2015-04-16