Mutagenetix > Incidental Mutations

Incidental Mutation 'R6091:Xirp1'

485932

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

044248-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.437) question?

Stock #

R6091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120013755-120023598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120017963 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 618 (V618A)

Ref Sequence

ENSEMBL: ENSMUSP00000107262 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111635
AA Change: V618A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: V618A

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.8%

Validation Efficiency

96% (54/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	G	2: 35,362,336	T50P	possibly damaging	Het
Adad1	A	G	3: 37,084,969	E396G	possibly damaging	Het
Adamtsl3	T	A	7: 82,465,621	C232S	probably damaging	Het
AI606181	T	C	19: 41,593,624	S78P	unknown	Het
Amph	T	A	13: 19,125,123	M457K	probably benign	Het
Ano1	A	T	7: 144,669,434	M174K	probably benign	Het
C3	T	A	17: 57,221,967	K632*	probably null	Het
Cep170	C	T	1: 176,755,831	G994D	probably damaging	Het
Chd7	T	C	4: 8,751,875	V124A	probably damaging	Het
Chd9	A	G	8: 91,035,063	K2259E	probably damaging	Het
Col7a1	A	G	9: 108,955,334	T137A	unknown	Het
Dcc	C	T	18: 71,809,114	V311I	probably benign	Het
Ddx42	A	T	11: 106,234,970	Q282L	probably damaging	Het
Fcgbp	A	G	7: 28,104,965	T1833A	possibly damaging	Het
Fpr-rs3	A	G	17: 20,624,270	I203T	probably benign	Het
Frem1	A	G	4: 82,900,559	I2139T	probably benign	Het
Frmpd2	T	C	14: 33,522,863	V546A	probably damaging	Het
Gbp11	G	T	5: 105,331,388	T123N	possibly damaging	Het
Hs3st1	G	A	5: 39,614,664	P212L	probably damaging	Het
Ifnb1	T	A	4: 88,522,576	M67L	probably benign	Het
Ighv1-54	T	C	12: 115,193,877	N50S	probably benign	Het
Ikzf4	G	A	10: 128,634,673	T326I	probably benign	Het
Ints2	A	T	11: 86,236,603	V501E	probably damaging	Het
Mfsd1	C	A	3: 67,599,937		probably null	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mrps11	G	A	7: 78,788,718	A73T	possibly damaging	Het
Mterf4	T	C	1: 93,301,569	E311G	probably damaging	Het
Mx2	A	G	16: 97,546,435	T176A	probably damaging	Het
Mycbp2	A	C	14: 103,223,046	L1495R	probably damaging	Het
Myo3b	A	G	2: 70,238,769	T451A	probably benign	Het
Myrfl	T	C	10: 116,849,206	T90A	probably benign	Het
Nbeal1	A	G	1: 60,181,556		probably benign	Het
Ncor1	A	G	11: 62,419,617	L201P	probably damaging	Het
Nfxl1	G	T	5: 72,514,190	L909I	probably benign	Het
Nr3c1	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	18: 39,486,958		probably benign	Het
Olfr1107	T	A	2: 87,071,361	S258C	probably benign	Het
Plscr5	A	G	9: 92,204,384	T136A	probably benign	Het
Ppp1r3a	G	A	6: 14,719,340	T525I	probably benign	Het
Ptprg	G	A	14: 12,215,979	G1143R	probably damaging	Het
Rbm47	G	C	5: 66,026,283	R326G	probably damaging	Het
Ryr1	T	C	7: 29,071,973	T2541A	probably benign	Het
Sall1	A	G	8: 89,028,619	L1244P	probably damaging	Het
Sec16a	G	A	2: 26,426,470	H1673Y	probably damaging	Het
Slc22a19	A	G	19: 7,711,063	I44T	probably benign	Het
Snap91	T	A	9: 86,839,628	N53Y	probably damaging	Het
Sorcs1	T	C	19: 50,288,101	T338A	possibly damaging	Het
Taf6l	T	C	19: 8,778,556	T243A	probably benign	Het
Tex10	T	C	4: 48,459,891	R487G	probably damaging	Het
Tfcp2	G	T	15: 100,512,313	T391N	probably damaging	Het
Tnxb	G	A	17: 34,710,364	V2794M	probably damaging	Het
Ush2a	T	G	1: 188,399,803	C741G	probably damaging	Het
Vmn1r3	T	A	4: 3,184,684	I208F	probably damaging	Het
Vmn2r28	T	A	7: 5,493,791	I21F	possibly damaging	Het
Vmn2r93	A	G	17: 18,325,696	D610G	probably benign	Het
Wbp1	T	C	6: 83,119,487	S229G	probably benign	Het
Zbtb32	A	G	7: 30,591,829	S14P	possibly damaging	Het
Zfp24	A	G	18: 24,014,212	S348P	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCCCACTGGATTGGTTTGAGG -3'
(R):5'- TATCACTCGGCAGGAAGTGG -3'

Sequencing Primer
(F):5'- GGCTGGCAGAGATTCAGTC -3'
(R):5'- CTTTGAGACGCAGCCATTG -3'

Posted On

2017-08-16