Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03365:Xirp1'

420061

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: 0.434) question?

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

120013755-120023598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120018539 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 426 (L426W)

Ref Sequence

ENSEMBL: ENSMUSP00000107262 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111635
AA Change: L426W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: L426W

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
1500035N22Rik	T	G	5: 24,997,811		probably benign	Het
5830411N06Rik	T	A	7: 140,296,769	V691E	probably damaging	Het
Adam6a	T	A	12: 113,544,145	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,431,642	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,583,852	P307S	probably benign	Het
Asxl1	T	A	2: 153,401,754	I1408N	probably damaging	Het
Avil	T	C	10: 127,010,983	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,989,284	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,271,264	V380L	probably benign	Het
Clip1	A	C	5: 123,583,586	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,807,426		probably null	Het
Dock8	C	T	19: 25,099,684	P506L	possibly damaging	Het
Ecsit	A	C	9: 22,076,526	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,494,120	D15E	probably benign	Het
Enpp1	A	G	10: 24,669,025	Y319H	probably damaging	Het
Fam126a	A	T	5: 23,983,160	Y245N	probably benign	Het
Fat3	T	C	9: 15,996,469	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,279,891	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,000,167	R775W	probably damaging	Het
Lrp12	A	T	15: 39,872,521	S672T	probably benign	Het
Morf4l2	A	G	X: 136,733,715	Y255H	probably benign	Het
Mri1	A	G	8: 84,251,633	V343A	possibly damaging	Het
Mybphl	T	A	3: 108,364,998	M1K	probably null	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Ofd1	C	A	X: 166,392,516	V951F	probably damaging	Het
Olfr1301	G	T	2: 111,754,427	M59I	possibly damaging	Het
Olfr550	G	T	7: 102,578,629	V45F	probably benign	Het
Olfr784	T	A	10: 129,388,239	V202D	possibly damaging	Het
Parp12	G	A	6: 39,102,647	R310W	probably damaging	Het
Pcdh11x	T	A	X: 120,516,238	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993		probably benign	Het
Ptprz1	T	A	6: 23,030,582		probably benign	Het
Qser1	T	A	2: 104,786,999	N1156I	probably damaging	Het
Rgs3	T	A	4: 62,689,675	D59E	probably benign	Het
Rims2	T	C	15: 39,476,541	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,964,252	V263M	possibly damaging	Het
Scfd2	G	T	5: 74,530,935	H229N	possibly damaging	Het
Sspo	T	C	6: 48,459,415	V1233A	possibly damaging	Het
Stam	T	A	2: 14,146,390	Y519*	probably null	Het
Svs1	A	G	6: 48,988,597	D513G	probably damaging	Het
Synj2	A	G	17: 6,019,404	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,435,457	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,768,227		probably benign	Het
Ttc23	G	A	7: 67,662,337		probably benign	Het
Vmn1r90	T	C	7: 14,561,304	I290V	probably damaging	Het
Zgrf1	T	G	3: 127,598,774	F430L	possibly damaging	Het

Other mutations in Xirp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01814:Xirp1	APN	9	120017919	missense	probably damaging	1.00
IGL02105:Xirp1	APN	9	120016997	missense	probably damaging	1.00
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
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

2016-08-02