Mutagenetix > Incidental Mutation

Incidental Mutation 'R9629:Xirp1'

725364

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

Essential gene?

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

Stock #

R9629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119842821-119852660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119846379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 835 (V835I)

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: V835I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: V835I

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,532,134 (GRCm39)	E147G	probably damaging	Het
Agrn	G	A	4: 156,257,094 (GRCm39)	Q1217*	probably null	Het
Ankrd13c	G	C	3: 157,653,313 (GRCm39)	K50N	probably benign	Het
Anks3	C	T	16: 4,775,565 (GRCm39)	S144N	probably damaging	Het
Apob	A	T	12: 8,059,054 (GRCm39)	D2512V	probably damaging	Het
Arhgap45	A	G	10: 79,863,694 (GRCm39)	K815E	probably damaging	Het
Atr	T	A	9: 95,747,098 (GRCm39)	C127S	probably benign	Het
B4galnt4	A	G	7: 140,648,575 (GRCm39)	D697G	probably damaging	Het
C2cd3	C	T	7: 100,029,249 (GRCm39)	L134F	probably damaging	Het
Celsr2	C	T	3: 108,308,915 (GRCm39)	G1697D	probably damaging	Het
Cep170	A	G	1: 176,583,821 (GRCm39)	S88P	possibly damaging	Het
Cnot1	A	G	8: 96,455,874 (GRCm39)	V1961A	probably damaging	Het
Cntnap4	A	G	8: 113,568,349 (GRCm39)	N795S	probably damaging	Het
Cog2	T	A	8: 125,260,125 (GRCm39)	V256D	possibly damaging	Het
Col14a1	A	G	15: 55,382,545 (GRCm39)	Y515C		Het
Cox7a1	A	G	7: 29,884,583 (GRCm39)	Q30R	probably damaging	Het
Cs	T	C	10: 128,196,885 (GRCm39)	S427P	probably damaging	Het
Dbr1	T	A	9: 99,464,523 (GRCm39)	C101S		Het
Dhcr7	C	A	7: 143,401,212 (GRCm39)	Y461*	probably null	Het
Dis3l2	T	A	1: 86,974,784 (GRCm39)	M691K	probably benign	Het
Dnah17	T	C	11: 117,979,804 (GRCm39)	D1751G	probably damaging	Het
Dock10	A	T	1: 80,481,389 (GRCm39)	I536K		Het
Dok6	G	T	18: 89,491,988 (GRCm39)	F196L	possibly damaging	Het
Epx	C	T	11: 87,755,651 (GRCm39)	D678N	probably damaging	Het
Fcrlb	G	C	1: 170,739,735 (GRCm39)	P56A	probably benign	Het
Flrt3	T	C	2: 140,502,816 (GRCm39)	R271G	possibly damaging	Het
Galnt15	T	A	14: 31,774,301 (GRCm39)	L479Q	probably damaging	Het
Gfy	G	A	7: 44,827,785 (GRCm39)	L104F	probably benign	Het
Gltp	C	T	5: 114,814,382 (GRCm39)	M80I	probably benign	Het
Gm21560	G	A	14: 6,218,250 (GRCm38)	T76I	probably benign	Het
Gm5150	A	G	3: 16,044,829 (GRCm39)	I132T	probably benign	Het
Hdac9	T	C	12: 34,439,389 (GRCm39)	H437R	probably damaging	Het
Hpgd	C	A	8: 56,751,419 (GRCm39)	F82L		Het
Ifi207	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	1: 173,556,561 (GRCm39)		probably benign	Het
Ilrun	A	T	17: 28,012,913 (GRCm39)	F95I	probably damaging	Het
Itgb5	C	T	16: 33,696,295 (GRCm39)	T162I	probably damaging	Het
Jakmip3	G	A	7: 138,625,118 (GRCm39)		probably null	Het
Kctd1	A	T	18: 15,196,611 (GRCm39)	M4K	unknown	Het
Kirrel1	C	A	3: 87,003,025 (GRCm39)	E123*	probably null	Het
Krt87	G	C	15: 101,389,048 (GRCm39)	P95A	probably benign	Het
Man1a	A	T	10: 53,796,158 (GRCm39)	H511Q	probably damaging	Het
Megf8	A	G	7: 25,043,194 (GRCm39)	D1372G	possibly damaging	Het
Mrgprd	A	G	7: 144,875,189 (GRCm39)	D20G	probably benign	Het
Mrpl54	C	T	10: 81,101,528 (GRCm39)	G78S	probably damaging	Het
Myl1	T	A	1: 66,969,448 (GRCm39)	E61D	probably benign	Het
Myo7a	G	T	7: 97,712,937 (GRCm39)	H1679Q	probably benign	Het
Naca	A	G	10: 127,878,226 (GRCm39)	E1086G	unknown	Het
Nagpa	C	G	16: 5,017,829 (GRCm39)	D258H	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nr2f6	G	A	8: 71,827,171 (GRCm39)	L377F	probably damaging	Het
Ntsr1	G	A	2: 180,183,274 (GRCm39)	R328H	probably damaging	Het
Nup93	G	A	8: 95,033,267 (GRCm39)	S592N	probably damaging	Het
Or10a2	A	T	7: 106,673,164 (GRCm39)	N43I	probably damaging	Het
Or4k40	T	A	2: 111,251,137 (GRCm39)	H53L	probably benign	Het
Or8g36	T	C	9: 39,422,497 (GRCm39)	D173G	probably benign	Het
Pard3	T	C	8: 128,136,153 (GRCm39)	V842A	possibly damaging	Het
Phospho2	T	A	2: 69,626,295 (GRCm39)	N150K	probably damaging	Het
Piwil1	T	C	5: 128,831,051 (GRCm39)	S791P	probably damaging	Het
Pkhd1	A	G	1: 20,462,437 (GRCm39)	V2039A	possibly damaging	Het
Ppp1r3c	A	G	19: 36,711,404 (GRCm39)	I122T	probably benign	Het
Prrc2c	A	G	1: 162,519,959 (GRCm39)	Y2131H	possibly damaging	Het
Qtrt2	T	C	16: 43,683,540 (GRCm39)	M311V	possibly damaging	Het
Rbbp4	T	C	4: 129,212,243 (GRCm39)	D346G	probably damaging	Het
Slc13a5	A	G	11: 72,138,578 (GRCm39)	I455T	probably damaging	Het
Slc28a3	A	T	13: 58,717,187 (GRCm39)	Y366*	probably null	Het
Srgap1	T	A	10: 121,705,746 (GRCm39)	Q226L	probably benign	Het
Syt17	A	G	7: 118,007,379 (GRCm39)	V362A	probably damaging	Het
Tas2r117	T	C	6: 132,780,374 (GRCm39)	S171P	probably benign	Het
Tfap2b	A	T	1: 19,289,468 (GRCm39)	I198F	probably damaging	Het
Tg	A	T	15: 66,555,587 (GRCm39)	I760F	possibly damaging	Het
Tmem123	T	C	9: 7,790,984 (GRCm39)	V95A	possibly damaging	Het
Tmem198b	C	A	10: 128,638,386 (GRCm39)	G59V	probably damaging	Het
Tmem30c	T	G	16: 57,096,585 (GRCm39)	I179L	probably benign	Het
Tmprss2	A	T	16: 97,369,702 (GRCm39)	D357E	probably benign	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Trex1	A	T	9: 108,887,632 (GRCm39)	C120S	probably damaging	Het
Ttc8	A	G	12: 98,886,965 (GRCm39)	S13G	possibly damaging	Het
Ttll7	T	C	3: 146,621,487 (GRCm39)	I362T	probably damaging	Het
Usp34	A	T	11: 23,314,364 (GRCm39)	T769S		Het
Vmn1r185	G	T	7: 26,311,439 (GRCm39)	T22K	probably damaging	Het
Vmn1r39	T	G	6: 66,781,578 (GRCm39)	M247L	probably benign	Het
Vmn2r96	A	G	17: 18,803,257 (GRCm39)	D389G	probably benign	Het
Ylpm1	T	G	12: 85,044,036 (GRCm39)	I258S	unknown	Het
Zfp971	A	T	2: 177,675,417 (GRCm39)	S339C	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
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
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'- CTTTGACACAGAGACTCCCAG -3'
(R):5'- AAAAGGCTCTGCAGGCCATG -3'

Sequencing Primer
(F):5'- AGACTCCCAGGCCACAGG -3'
(R):5'- AGCCGAGAGAACCCTTCG -3'

Posted On

2022-09-12