Mutagenetix > Incidental Mutations

Incidental Mutation 'V8831:Xirp1'

44620

Institutional Source

Beutler Lab

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: 0.437) question?

Stock #

V8831 () of strain 710

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120013755-120023598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120016907 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 970 (Q970P)

Ref Sequence

ENSEMBL: ENSMUSP00000107262 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111635
AA Change: Q970P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: Q970P

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

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsa1	A	G	12: 87,269,923	N107S	probably damaging	Het
Arhgap23	A	G	11: 97,456,545	I690V	probably benign	Het
Bard1	G	A	1: 71,088,217	P78S	probably damaging	Het
Ccar1	G	A	10: 62,747,406	T976I	unknown	Het
Cdc7	T	A	5: 106,968,910	N50K	probably benign	Het
Cep85	C	T	4: 134,156,069	E170K	possibly damaging	Het
Cpsf2	C	T	12: 102,003,141	R757C	probably damaging	Het
Csmd3	A	T	15: 48,457,696	D239E	probably damaging	Het
Dnah7b	T	G	1: 46,373,298	Y4022*	probably null	Het
Elmo3	A	G	8: 105,307,061	N179S	probably benign	Het
H2-T24	T	A	17: 36,017,324	Q89L	probably damaging	Het
Hist1h2bj	G	C	13: 22,043,281		probably benign	Het
Irak4	T	C	15: 94,561,484	I327T	probably damaging	Het
Itpr2	A	T	6: 146,385,882	L157Q	probably damaging	Het
Lama1	G	A	17: 67,752,883	D656N	probably benign	Het
Lrrc72	G	T	12: 36,208,657	T67K	possibly damaging	Het
Map2	T	G	1: 66,415,845	I1298S	probably damaging	Het
Mroh2a	T	TN	1: 88,256,167		probably null	Het
Ndst1	G	A	18: 60,702,927	A428V	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1369-ps1	T	C	13: 21,116,003	Y104H	possibly damaging	Het
Olfr177	G	T	16: 58,873,075	T25K	probably benign	Het
Olfr481	C	T	7: 108,081,535	A247V	probably benign	Het
Plxna1	A	G	6: 89,357,137	V170A	probably damaging	Het
Rfx6	G	A	10: 51,718,208		probably null	Het
Shprh	G	A	10: 11,186,862	D1238N	probably damaging	Het
Slc15a2	A	G	16: 36,772,445	M179T	probably benign	Het
Slc9c1	A	T	16: 45,577,899	I676F	possibly damaging	Het
Smoc1	A	G	12: 81,168,255	D305G	probably damaging	Het
Spdef	C	T	17: 27,718,077	R184H	probably damaging	Het
Stxbp4	C	T	11: 90,480,671	A535T	probably benign	Het
Tcp11l1	C	G	2: 104,685,484	V345L	probably benign	Het
Ticam1	TC	T	17: 56,269,969		probably null	Het
Ttc28	A	T	5: 111,100,712	Y177F	probably benign	Het
Ugt2b34	A	T	5: 86,906,674	Y83N	probably benign	Het
Vmn2r30	G	A	7: 7,334,149	R163C	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTGCTTCCTGCAATGGAGCTTG -3'
(R):5'- GACCCTGGGAATATTGAAGACATGGAC -3'

Sequencing Primer
(F):5'- AGGGTGTGGATCCTGAGATT -3'
(R):5'- TATTGAAGACATGGACCCTGAGC -3'

Posted On

2013-06-11