Mutagenetix > Incidental Mutations

Incidental Mutation 'R0881:Xirp1'

80564

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

039048-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120013755-120023598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120018417 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 28 (N28D)

Ref Sequence

ENSEMBL: ENSMUSP00000149083 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111635
AA Change: N467D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: N467D

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

possibly damaging
Transcript: ENSMUST00000213113
AA Change: N28D

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 93.0%

Validation Efficiency

96% (51/53)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 76,876,283	T174M	probably damaging	Het
Abcc9	T	A	6: 142,646,303	I732F	probably damaging	Het
Adam10	T	C	9: 70,746,237	S248P	probably damaging	Het
Adam18	A	T	8: 24,672,143		probably benign	Het
Angel2	G	A	1: 190,937,464	E114K	probably damaging	Het
Arhgap29	A	G	3: 122,014,679	T1169A	probably damaging	Het
Atp13a2	T	A	4: 141,003,931	M759K	probably damaging	Het
Atxn2l	A	G	7: 126,496,596	S450P	probably damaging	Het
B3glct	T	A	5: 149,739,569	V264E	probably damaging	Het
Bbx	A	G	16: 50,220,600		probably benign	Het
Bmp3	A	G	5: 98,872,602	N295D	possibly damaging	Het
C9	G	A	15: 6,458,868		probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Cdan1	A	T	2: 120,720,985	V1039E	probably damaging	Het
Dennd4a	T	C	9: 64,851,383		probably null	Het
Ext1	A	G	15: 53,344,483	L294P	probably benign	Het
Fsip2	C	A	2: 82,986,273	H4117N	possibly damaging	Het
Itga8	C	T	2: 12,262,192		probably null	Het
Itln1	G	T	1: 171,533,381	H48N	probably benign	Het
Kcna5	T	A	6: 126,534,994	H57L	probably benign	Het
Klhdc4	A	T	8: 121,799,487	Y304*	probably null	Het
Klhl25	A	G	7: 75,866,279	Y6C	probably damaging	Het
Lars	C	T	18: 42,214,786	V991M	probably benign	Het
Med20	T	C	17: 47,611,680	M1T	probably null	Het
Mslnl	A	T	17: 25,742,965	H138L	possibly damaging	Het
Mycbp2	T	C	14: 103,220,013	I1583V	probably benign	Het
Nipbl	A	C	15: 8,307,612	V2093G	probably damaging	Het
Nup98	T	A	7: 102,160,716	T536S	probably damaging	Het
Olfr340	T	G	2: 36,453,440	L285R	probably damaging	Het
Olfr557	T	A	7: 102,699,084	V282D	possibly damaging	Het
Olfr943	A	G	9: 39,184,688	K170R	probably benign	Het
Opalin	T	C	19: 41,063,981		probably null	Het
Pgm1	A	T	5: 64,093,008	T9S	unknown	Het
Piwil2	A	C	14: 70,408,927	S387A	probably benign	Het
Polr1c	T	C	17: 46,244,613	T240A	possibly damaging	Het
Polr3c	A	G	3: 96,723,847	M118T	probably damaging	Het
Pth1r	C	T	9: 110,731,573	C42Y	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rictor	A	T	15: 6,791,670	M1492L	probably benign	Het
Rrbp1	T	A	2: 143,953,253	Y1277F	probably benign	Het
Scgb3a2	T	G	18: 43,764,484		probably benign	Het
Skint1	G	A	4: 112,028,857	S327N	probably benign	Het
Steap4	A	T	5: 7,980,388	S415C	probably benign	Het
Tex48	A	G	4: 63,611,991		probably benign	Het
Tox2	T	A	2: 163,321,445	S502T	probably benign	Het
Usp47	T	A	7: 112,091,436	I762K	possibly damaging	Het
Vmn2r53	T	C	7: 12,600,932	H267R	probably benign	Het
Wnt2b	A	G	3: 104,953,197		probably benign	Het
Zeb1	T	C	18: 5,767,138	S550P	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
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

Predicted Primers

PCR Primer
(F):5'- ACTTGTAGCCCTGAACATCACCTCC -3'
(R):5'- GCGACATCTGTTTGAAACCTGTTCC -3'

Sequencing Primer
(F):5'- CAACTACCTGCTCTCTGCTGAC -3'
(R):5'- CTTTCAGAGACCAGGTCCAAGTG -3'

Posted On

2013-11-07