Mutagenetix > Incidental Mutations

Incidental Mutation 'R7744:Xirp1'

596744

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.434) question?

Stock #

R7744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120013755-120023598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120016846 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 990 (R990S)

Ref Sequence

ENSEMBL: ENSMUSP00000107262 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111635
AA Change: R990S

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: R990S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,290,421	N761K	possibly damaging	Het
Abi2	A	G	1: 60,437,203	I145V	probably benign	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Atf7ip2	T	A	16: 10,241,658	V354E	possibly damaging	Het
Bglap	T	C	3: 88,383,651	Y91C	probably damaging	Het
Cacna1e	A	T	1: 154,465,792	S1219T	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cd177	A	G	7: 24,750,375	C562R	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chd7	T	A	4: 8,862,485		probably null	Het
Dyrk3	A	G	1: 131,129,806	V210A	probably damaging	Het
Eif3c	C	A	7: 126,558,894	G297W	probably damaging	Het
Eml1	A	G	12: 108,516,604	H494R	probably benign	Het
Enpp2	A	T	15: 54,901,233		probably null	Het
Fbxw21	C	A	9: 109,157,652	C53F	possibly damaging	Het
Fndc3a	C	A	14: 72,561,716	G609V	possibly damaging	Het
Grid1	A	G	14: 35,450,079	D514G	probably damaging	Het
Gxylt2	T	C	6: 100,783,317	V271A	probably damaging	Het
Hes1	A	G	16: 30,066,179	K74R	probably damaging	Het
Igsf9	A	G	1: 172,492,185	N349S	probably benign	Het
Isx	T	A	8: 74,873,657	I6N	possibly damaging	Het
Kcnb1	A	T	2: 167,188,331	F98Y	probably damaging	Het
Kif1b	G	C	4: 149,237,075	T1129R	possibly damaging	Het
Klra10	T	A	6: 130,272,761		probably null	Het
Mcm10	A	T	2: 4,991,442	L870Q	probably damaging	Het
Mettl16	T	A	11: 74,803,003	I280K	probably benign	Het
Mre11a	G	A	9: 14,809,832	R349Q	possibly damaging	Het
Mrpl10	C	T	11: 97,044,576	T34I	probably damaging	Het
Muc16	T	A	9: 18,585,096		probably null	Het
Myt1l	T	C	12: 29,827,549	C400R	unknown	Het
Nbr1	C	T	11: 101,569,384	T402M	probably damaging	Het
Ndufs1	A	G	1: 63,160,940	M271T	possibly damaging	Het
Olfr1209	C	T	2: 88,909,659	V245I	possibly damaging	Het
Olfr1494	A	G	19: 13,750,055	*316W	probably null	Het
Olfr562-ps1	G	T	7: 102,782,390	V305L	probably benign	Het
Palm2	T	C	4: 57,709,519	S155P	probably damaging	Het
Pced1a	C	T	2: 130,422,052	D227N	probably damaging	Het
Phf21b	A	G	15: 84,804,869	I152T	probably damaging	Het
Pla2g4a	A	G	1: 149,861,102	V430A	probably benign	Het
Plbd1	T	C	6: 136,617,246	E335G	probably benign	Het
Plce1	G	A	19: 38,620,455	V403M	possibly damaging	Het
Pnpla6	T	A	8: 3,531,677	N642K	probably benign	Het
Ptprb	T	C	10: 116,277,484	I123T	probably benign	Het
Rab3il1	T	A	19: 10,028,277		probably null	Het
Ranbp3	C	T	17: 56,708,219	T307M	possibly damaging	Het
Rasgrp2	T	C	19: 6,405,001	S254P	probably damaging	Het
Rgl3	T	C	9: 21,987,570	K191R	probably benign	Het
Rnf223	G	A	4: 156,132,525	R119H	probably benign	Het
Sapcd2	C	T	2: 25,373,496	P217S	unknown	Het
Setd7	C	T	3: 51,526,840		probably null	Het
Sh3bp1	A	C	15: 78,910,009	T526P	possibly damaging	Het
Slc17a4	C	A	13: 23,901,784	W382L	probably benign	Het
Slc26a3	A	T	12: 31,463,465		probably null	Het
Tmem129	A	G	5: 33,654,388	L356P	probably damaging	Het
Trib1	T	A	15: 59,654,663	Y361N	probably benign	Het
Zfp950	A	C	19: 61,127,572		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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGCTTCCTGGAGATCTGG -3'
(R):5'- CCCCTGAAAGAAGCAGTGTG -3'

Sequencing Primer
(F):5'- TTCCTGGAGATCTGGAGCCC -3'
(R):5'- GCAGTGTGCAGCTGCTG -3'

Posted On

2019-11-26