Mutagenetix > Incidental Mutation

Incidental Mutation 'R1220:Xirp1'

100010

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

039289-MU

Accession Numbers

Essential gene?

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

Stock #

R1220 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

119842821-119852660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119846982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 634 (F634L)

Ref Sequence

ENSEMBL: ENSMUSP00000107262 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111635
AA Change: F634L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: F634L

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

0.6725

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.2%

Validation Efficiency

100% (35/35)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	C	A	7: 119,257,537 (GRCm39)	S407R	probably benign	Het
Add2	A	T	6: 86,063,982 (GRCm39)	M94L	possibly damaging	Het
Anks6	A	T	4: 47,025,767 (GRCm39)		probably benign	Het
Atxn1	A	G	13: 45,710,899 (GRCm39)	S678P	probably benign	Het
Ccnc	A	G	4: 21,732,491 (GRCm39)	Y76C	probably damaging	Het
Col1a1	G	T	11: 94,841,957 (GRCm39)	A1335S	unknown	Het
Col25a1	G	T	3: 130,182,574 (GRCm39)		probably benign	Het
Commd10	C	A	18: 47,220,107 (GRCm39)	Q195K	probably damaging	Het
Cps1	G	A	1: 67,243,862 (GRCm39)		probably null	Het
Cramp1	A	T	17: 25,201,211 (GRCm39)	V757D	probably damaging	Het
Cttn	T	C	7: 144,017,699 (GRCm39)	T13A	probably benign	Het
Eftud2	A	G	11: 102,742,573 (GRCm39)		probably benign	Het
Eif4enif1	A	G	11: 3,189,493 (GRCm39)		probably benign	Het
Exoc3l2	T	A	7: 19,225,709 (GRCm39)		probably benign	Het
Fam118b	T	C	9: 35,134,969 (GRCm39)	S213G	possibly damaging	Het
Katnal1	G	A	5: 148,831,061 (GRCm39)	A171V	probably benign	Het
Lrig3	A	G	10: 125,832,945 (GRCm39)	N273S	probably damaging	Het
Lrriq1	G	A	10: 102,906,990 (GRCm39)	R1577W	probably benign	Het
Or1e26	A	C	11: 73,480,203 (GRCm39)	Y120*	probably null	Het
Or5p70	T	A	7: 107,994,539 (GRCm39)	S71T	probably benign	Het
Pmel	A	G	10: 128,549,929 (GRCm39)	D30G	probably benign	Het
Ppp1r15a	T	C	7: 45,173,293 (GRCm39)	Y505C	probably damaging	Het
Prpf40b	C	T	15: 99,214,229 (GRCm39)	R830C	probably benign	Het
Rabgap1l	A	T	1: 160,566,479 (GRCm39)	D106E	probably damaging	Het
Rad18	C	A	6: 112,626,625 (GRCm39)	E141*	probably null	Het
Ros1	C	T	10: 51,974,966 (GRCm39)	V1540M	probably damaging	Het
Secisbp2	G	A	13: 51,810,941 (GRCm39)	R201H	probably damaging	Het
Shisa6	A	G	11: 66,110,836 (GRCm39)	S302P	probably damaging	Het
Slamf9	C	A	1: 172,304,898 (GRCm39)	Q171K	probably benign	Het
Sox6	T	A	7: 115,261,677 (GRCm39)	T180S	probably damaging	Het
Ttn	T	C	2: 76,553,998 (GRCm39)	S30902G	possibly damaging	Het
Yrdc	T	A	4: 124,748,329 (GRCm39)	S278T	possibly 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
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
R3013:Xirp1	UTSW	9	119,848,851 (GRCm39)	missense	probably benign
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'- CCTGGAAAACCTCTTTCTGCCGAG -3'
(R):5'- CAGCCATTGGAGATGATCCACCAAC -3'

Sequencing Primer
(F):5'- GATACCTGCCCGGAAGGAATC -3'
(R):5'- TTGGAGATGATCCACCAACAAGAG -3'

Posted On

2014-01-15