Mutagenetix > Incidental Mutation

Incidental Mutation 'R3013:Xirp1'

257571

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

040534-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.418) question?

Stock #

R3013 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119842821-119852660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119848851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 11 (T11A)

Ref Sequence

ENSEMBL: ENSMUSP00000107262 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000111635
AA Change: T11A

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

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: T11A

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

Meta Mutation Damage Score

0.0754

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (32/33)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	C	T	8: 124,211,416 (GRCm39)	R126W	probably benign	Het
Alg10b	T	A	15: 90,111,759 (GRCm39)	I201N	possibly damaging	Het
Arid2	T	C	15: 96,259,817 (GRCm39)	S326P	probably damaging	Het
Ash2l	T	C	8: 26,329,792 (GRCm39)	D122G	probably damaging	Het
Bpifb5	T	C	2: 154,070,775 (GRCm39)	S189P	possibly damaging	Het
Ccdc39	C	T	3: 33,868,817 (GRCm39)	R798Q	probably damaging	Het
Ccdc57	A	G	11: 120,752,025 (GRCm39)	V852A	probably benign	Het
Ces1e	G	A	8: 93,929,915 (GRCm39)	S455L	probably benign	Het
Cyp4f14	T	C	17: 33,128,139 (GRCm39)	K292R	probably benign	Het
Dnah7b	T	C	1: 46,227,847 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,847,067 (GRCm39)		probably null	Het
Gtf2i	T	C	5: 134,324,358 (GRCm39)		probably benign	Het
Hip1	T	A	5: 135,463,893 (GRCm39)	E37V	possibly damaging	Het
Hspbp1	G	T	7: 4,666,483 (GRCm39)	T299K	probably benign	Het
Lrpprc	T	C	17: 85,074,497 (GRCm39)	D470G	probably benign	Het
Mkx	A	T	18: 6,936,929 (GRCm39)	I334N	probably damaging	Het
Obscn	A	T	11: 58,951,744 (GRCm39)	L4003Q	probably damaging	Het
Pcnx2	C	A	8: 126,614,509 (GRCm39)	C314F	probably benign	Het
Pramel31	T	A	4: 144,089,025 (GRCm39)	D114E	probably damaging	Het
Prr5l	A	G	2: 101,565,050 (GRCm39)	F162S	probably damaging	Het
Rbfox2	T	C	15: 77,017,120 (GRCm39)	T17A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr3	A	T	2: 112,470,626 (GRCm39)	F4610L	probably damaging	Het
Scp2	T	A	4: 107,928,554 (GRCm39)	R379W	probably damaging	Het
Serpina3j	A	G	12: 104,285,966 (GRCm39)	T374A	probably damaging	Het
Smad4	T	C	18: 73,781,975 (GRCm39)	Y429C	probably damaging	Het
Ttn	T	C	2: 76,565,025 (GRCm39)	T28401A	probably damaging	Het
Wdr49	A	G	3: 75,358,154 (GRCm39)	I260T	probably damaging	Het
Zfp235	A	G	7: 23,840,157 (GRCm39)	D262G	probably damaging	Het

Other mutations in Xirp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01814:Xirp1	APN	9	119,846,985 (GRCm39)	missense	probably damaging	1.00
IGL02105:Xirp1	APN	9	119,846,063 (GRCm39)	missense	probably damaging	1.00
IGL03365:Xirp1	APN	9	119,847,605 (GRCm39)	missense	probably damaging	0.99
busybody	UTSW	9	119,848,819 (GRCm39)	missense	possibly damaging	0.92
Buzzer	UTSW	9	119,847,557 (GRCm39)	missense	probably damaging	1.00
cornflower	UTSW	9	119,848,881 (GRCm39)	start codon destroyed	probably null	0.89
R0006:Xirp1	UTSW	9	119,846,520 (GRCm39)	missense	probably benign	0.01
R0320:Xirp1	UTSW	9	119,845,533 (GRCm39)	missense	probably benign	0.00
R0881:Xirp1	UTSW	9	119,847,483 (GRCm39)	missense	possibly damaging	0.69
R1220:Xirp1	UTSW	9	119,846,982 (GRCm39)	missense	possibly damaging	0.95
R1707:Xirp1	UTSW	9	119,847,841 (GRCm39)	missense	possibly damaging	0.53
R1783:Xirp1	UTSW	9	120,016,907 (GRCm38)	missense	probably benign
R1785:Xirp1	UTSW	9	120,016,907 (GRCm38)	missense	probably benign
R1978:Xirp1	UTSW	9	119,847,657 (GRCm39)	missense	probably benign	0.00
R1983:Xirp1	UTSW	9	119,845,695 (GRCm39)	nonsense	probably null
R2064:Xirp1	UTSW	9	119,845,962 (GRCm39)	missense	probably benign	0.00
R2860:Xirp1	UTSW	9	119,848,881 (GRCm39)	start codon destroyed	probably null	0.89
R2860:Xirp1	UTSW	9	119,847,444 (GRCm39)	missense	probably benign	0.04
R2861:Xirp1	UTSW	9	119,847,444 (GRCm39)	missense	probably benign	0.04
R2861:Xirp1	UTSW	9	119,848,881 (GRCm39)	start codon destroyed	probably null	0.89
R2919:Xirp1	UTSW	9	119,847,767 (GRCm39)	missense	possibly damaging	0.81
R3704:Xirp1	UTSW	9	120,016,907 (GRCm38)	missense	probably benign	0.04
R3898:Xirp1	UTSW	9	119,848,406 (GRCm39)	missense	probably benign	0.00
R3981:Xirp1	UTSW	9	119,846,810 (GRCm39)	missense	probably damaging	0.98
R4609:Xirp1	UTSW	9	119,845,572 (GRCm39)	missense	probably benign
R4613:Xirp1	UTSW	9	119,848,748 (GRCm39)	missense	probably damaging	1.00
R4660:Xirp1	UTSW	9	119,846,058 (GRCm39)	missense	probably damaging	1.00
R4703:Xirp1	UTSW	9	119,846,093 (GRCm39)	missense	probably damaging	1.00
R4825:Xirp1	UTSW	9	119,846,069 (GRCm39)	missense	possibly damaging	0.77
R4993:Xirp1	UTSW	9	119,847,858 (GRCm39)	missense	probably damaging	1.00
R5297:Xirp1	UTSW	9	119,848,668 (GRCm39)	missense	probably damaging	1.00
R5939:Xirp1	UTSW	9	119,847,575 (GRCm39)	missense	probably benign	0.01
R6091:Xirp1	UTSW	9	119,847,029 (GRCm39)	missense	probably benign	0.01
R6290:Xirp1	UTSW	9	119,847,791 (GRCm39)	missense	probably benign
R6376:Xirp1	UTSW	9	119,847,557 (GRCm39)	missense	probably damaging	1.00
R6515:Xirp1	UTSW	9	119,845,983 (GRCm39)	missense	probably benign	0.00
R6616:Xirp1	UTSW	9	119,848,080 (GRCm39)	missense	probably damaging	0.98
R6976:Xirp1	UTSW	9	119,846,984 (GRCm39)	missense	probably damaging	1.00
R7165:Xirp1	UTSW	9	119,848,113 (GRCm39)	missense	probably damaging	1.00
R7471:Xirp1	UTSW	9	119,848,176 (GRCm39)	nonsense	probably null
R7744:Xirp1	UTSW	9	119,845,912 (GRCm39)	missense	possibly damaging	0.77
R7847:Xirp1	UTSW	9	119,848,819 (GRCm39)	missense	possibly damaging	0.92
R8010:Xirp1	UTSW	9	119,846,890 (GRCm39)	missense	probably benign	0.00
R8371:Xirp1	UTSW	9	119,848,499 (GRCm39)	missense	possibly damaging	0.78
R8868:Xirp1	UTSW	9	119,846,871 (GRCm39)	missense	probably benign
R9165:Xirp1	UTSW	9	119,847,302 (GRCm39)	missense	probably benign	0.05
R9342:Xirp1	UTSW	9	119,845,950 (GRCm39)	missense	probably benign
R9440:Xirp1	UTSW	9	119,847,203 (GRCm39)	missense	probably damaging	1.00
R9527:Xirp1	UTSW	9	119,847,558 (GRCm39)	missense	probably damaging	1.00
R9605:Xirp1	UTSW	9	119,847,274 (GRCm39)	missense	possibly damaging	0.77
R9629:Xirp1	UTSW	9	119,846,379 (GRCm39)	missense	probably benign	0.00
V8831:Xirp1	UTSW	9	120,016,907 (GRCm38)	missense	probably benign
X0025:Xirp1	UTSW	9	119,848,221 (GRCm39)	missense	probably damaging	1.00
Z1088:Xirp1	UTSW	9	120,016,907 (GRCm38)	missense	probably benign
Z1176:Xirp1	UTSW	9	120,016,907 (GRCm38)	missense	probably benign
Z1176:Xirp1	UTSW	9	119,845,946 (GRCm39)	missense	probably damaging	0.96
Z1177:Xirp1	UTSW	9	119,846,220 (GRCm39)	missense	probably damaging	0.99
Z1177:Xirp1	UTSW	9	120,016,907 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTCGAGGTTCTTCCGAAG -3'
(R):5'- TAGGAAGCAGGGACTCATACTG -3'

Sequencing Primer
(F):5'- TCTTCCGAAGCTCAGGGTG -3'
(R):5'- TGGATGGACTATCATACTCCAGC -3'

Posted On

2015-01-11