Mutagenetix > Incidental Mutations

Incidental Mutation 'R2860:Xirp1'

252842

Institutional Source

Beutler Lab

Gene Symbol

Xirp1

Ensembl Gene

ENSMUSG00000079243

Gene Name

xin actin-binding repeat containing 1

Synonyms

Cmya1, Xin, mXin alpha

MMRRC Submission

040450-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

R2860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120013755-120023598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120018378 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 41 (S41P)

Ref Sequence

ENSEMBL: ENSMUSP00000149083 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111635
AA Change: S480P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: S480P

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
AA Change: S41P

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (44/44)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,965,849	S2079N	probably damaging	Het
Abca13	A	G	11: 9,309,057	S2928G	probably damaging	Het
Abcc9	C	T	6: 142,626,010	V1131M	probably benign	Het
Abcd1	T	A	X: 73,737,458	L713H	probably damaging	Het
Actg1	T	C	11: 120,346,801	I52V	probably benign	Het
Ang	G	T	14: 51,101,818	D139Y	probably damaging	Het
Ano1	C	T	7: 144,590,012	G1011E	probably damaging	Het
Apoe	T	C	7: 19,697,554	Y46C	probably damaging	Het
Ash1l	T	C	3: 89,054,478	W2386R	probably damaging	Het
Asph	T	C	4: 9,598,277	D250G	probably damaging	Het
Atr	A	G	9: 95,874,243	N836S	probably benign	Het
Btg3	A	G	16: 78,364,980	V114A	probably damaging	Het
C2	T	C	17: 34,863,878	T471A	possibly damaging	Het
C4b	T	A	17: 34,734,758	S959C	probably damaging	Het
Cap1	A	T	4: 122,864,725	S221T	probably benign	Het
Capn2	A	T	1: 182,472,920		probably benign	Het
Cd38	A	G	5: 43,901,433	S130G	probably damaging	Het
Cd8b1	A	G	6: 71,334,101	R202G	probably damaging	Het
Col22a1	A	G	15: 71,815,943		probably null	Het
Cps1	A	T	1: 67,166,375	E519V	probably benign	Het
Cyp2c38	G	A	19: 39,460,694	R72W	probably benign	Het
Cyp3a16	A	T	5: 145,455,499	Y215*	probably null	Het
F5	A	T	1: 164,184,964	K482N	probably damaging	Het
Fam212a	T	C	9: 107,984,404	T238A	probably benign	Het
Fam45a	T	C	19: 60,814,794	S80P	probably benign	Het
Gab1	T	C	8: 80,784,753	M488V	probably benign	Het
Gabpb1	A	G	2: 126,653,574	I86T	probably damaging	Het
Gbx2	C	T	1: 89,929,131	R179Q	probably damaging	Het
Gm11938	C	A	11: 99,603,146	R41L	probably damaging	Het
Gpn1	A	G	5: 31,497,320	D72G	probably damaging	Het
Greb1	A	G	12: 16,711,745	S545P	probably benign	Het
Hsd3b7	T	G	7: 127,802,270	L189R	probably damaging	Het
Iglc1	T	C	16: 19,061,910		probably benign	Het
Il18r1	T	C	1: 40,498,557	V494A	possibly damaging	Het
Itsn2	C	A	12: 4,700,315		probably benign	Het
Kcnn1	T	C	8: 70,846,535	K487R	probably benign	Het
Kdf1	G	A	4: 133,528,541	E190K	probably damaging	Het
Lama3	G	T	18: 12,453,750	L723F	probably damaging	Het
Lama5	T	C	2: 180,187,247	T2034A	probably benign	Het
Maged1	G	A	X: 94,538,924	P366S	probably damaging	Het
Med14	A	G	X: 12,719,697	I521T	probably benign	Het
Mia2	A	G	12: 59,154,410	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,583,410	R53Q	possibly damaging	Het
Mum1l1	G	A	X: 139,236,680	G656S	possibly damaging	Het
Nmnat2	G	A	1: 153,112,425	V267I	probably benign	Het
Olfr1305	G	T	2: 111,873,473	C127*	probably null	Het
Olfr231	A	G	1: 174,117,732	Y95H	probably damaging	Het
Olfr490	A	G	7: 108,286,962	S55P	probably damaging	Het
Olfr715b	T	A	7: 107,106,468	H131L	probably benign	Het
Opn4	A	G	14: 34,593,828		probably null	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Parp16	G	T	9: 65,233,804	D219Y	probably damaging	Het
Pitpnm2	G	C	5: 124,121,437	H1224Q	probably damaging	Het
Pkd1	C	T	17: 24,565,446	T322I	probably benign	Het
Pkhd1l1	A	C	15: 44,540,871	T2299P	probably damaging	Het
Plin4	T	C	17: 56,106,668	D319G	probably damaging	Het
Ppp6r3	A	C	19: 3,521,782	S122R	possibly damaging	Het
Pum3	A	T	19: 27,420,125		probably benign	Het
Rims1	A	T	1: 22,432,976	F653I	probably benign	Het
Rnf113a1	A	G	X: 37,192,083	E231G	probably damaging	Het
Rnf41	T	C	10: 128,438,154	L225P	possibly damaging	Het
Ryr2	T	C	13: 11,593,093	E876G	probably damaging	Het
Slc25a10	G	A	11: 120,495,177	V115M	probably damaging	Het
Snx13	T	A	12: 35,138,117	I798N	probably benign	Het
Sri	A	T	5: 8,067,540	Q178L	probably benign	Het
Tex14	T	G	11: 87,474,417	D62E	probably damaging	Het
Tshz1	G	T	18: 84,014,980	H434Q	probably damaging	Het
Vegfd	A	G	X: 164,385,883	E57G	probably damaging	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r59	A	G	7: 42,047,003	I105T	possibly damaging	Het
Vmn2r6	G	T	3: 64,547,339	T513N	probably benign	Het
Vmn2r72	A	T	7: 85,750,836	I335N	probably damaging	Het
Wiz	G	T	17: 32,361,706	T257K	probably 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
IGL03365:Xirp1	APN	9	120018539	missense	probably damaging	0.99
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	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
R7930:Xirp1	UTSW	9	120019753	missense	possibly damaging	0.92
R8010:Xirp1	UTSW	9	120017824	missense	not run
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	not run
Z1176:Xirp1	UTSW	9	120016907	missense	probably benign
Z1177:Xirp1	UTSW	9	120016907	missense	probably benign
Z1177:Xirp1	UTSW	9	120017154	missense	not run

Predicted Primers

PCR Primer
(F):5'- TCTCAAAGAGCCACCGAGTG -3'
(R):5'- GTCTACCCAGTAATGGTACTTCGG -3'

Sequencing Primer
(F):5'- GTGATACCTCGTACCACATCGATGG -3'
(R):5'- ACCCAGTAATGGTACTTCGGTGTTG -3'

Posted On

2014-12-04