Mutagenetix > Incidental Mutation

Incidental Mutation 'R5939:Xirp1'

462438

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

043243-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R5939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120013755-120023598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120018509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 436 (D436A)

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: D436A

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

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: D436A

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: 99.6%
10x: 97.9%
20x: 93.9%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 24,914,122	F225I	probably damaging	Het
Ager	G	T	17: 34,598,201	C38F	probably damaging	Het
Arel1	C	A	12: 84,926,292	R577L	probably damaging	Het
Armh1	T	C	4: 117,229,922	Y182C	probably damaging	Het
BC005561	T	C	5: 104,519,207	Y532H	possibly damaging	Het
Cabp2	G	T	19: 4,086,470	C172F	possibly damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
D630045J12Rik	A	C	6: 38,194,969	S755A	possibly damaging	Het
Duox1	A	T	2: 122,346,351	H1451L	probably damaging	Het
Dync2h1	A	G	9: 7,037,801	V3359A	probably damaging	Het
Erlin2	T	C	8: 27,036,526	F305L	probably benign	Het
Gm10428	A	C	11: 62,753,462		probably benign	Het
Gnal	G	A	18: 67,191,385	V204M	probably damaging	Het
Intu	T	C	3: 40,692,584	V629A	probably damaging	Het
Lrguk	G	T	6: 34,078,753	C435F	probably damaging	Het
Man1c1	C	T	4: 134,565,836	V543M	probably damaging	Het
Mcm3ap	A	G	10: 76,508,361	H1779R	probably benign	Het
Neb	T	C	2: 52,257,594	T2776A	probably benign	Het
Nek10	A	T	14: 14,931,290	Y754F	possibly damaging	Het
Nr3c1	A	G	18: 39,420,653	I664T	probably benign	Het
Nrip1	T	C	16: 76,292,122	E849G	probably damaging	Het
Nrros	A	G	16: 32,143,454	F546L	probably benign	Het
Olfr1120	A	C	2: 87,357,704	I87L	possibly damaging	Het
Olfr1167	T	C	2: 88,149,509	Y170C	probably damaging	Het
Pcdhb16	A	G	18: 37,478,064	T26A	probably benign	Het
Penk	A	G	4: 4,138,010	F45S	probably benign	Het
Ppp2r3a	A	T	9: 101,212,625	N166K	probably benign	Het
Psmb1	A	G	17: 15,498,178	F29L	probably damaging	Het
Rab23	T	C	1: 33,723,909	V20A	probably damaging	Het
Ryr1	C	T	7: 29,116,127	A113T	probably damaging	Het
Ryr2	C	T	13: 11,790,332	R882K	probably damaging	Het
Slc6a6	A	G	6: 91,754,948	N586S	probably benign	Het
Slc9c1	A	G	16: 45,547,668	I207V	probably benign	Het
Spef2	G	A	15: 9,614,215	T1215I	probably benign	Het
Tmc7	C	T	7: 118,545,727	A537T	probably benign	Het
Tmem246	T	A	4: 49,586,412	Q252L	probably damaging	Het
Tmem70	T	C	1: 16,677,391	V243A	probably benign	Het
Top2b	T	C	14: 16,422,786	Y1408H	probably damaging	Het
Tpcn1	A	T	5: 120,539,827	F642I	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
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
R8868:Xirp1	UTSW	9	120017805	missense	probably benign
R9165:Xirp1	UTSW	9	120018236	missense	probably benign	0.05
R9342:Xirp1	UTSW	9	120016884	missense	probably benign
R9440:Xirp1	UTSW	9	120018137	missense	probably damaging	1.00
R9527:Xirp1	UTSW	9	120018492	missense	probably damaging	1.00
R9605:Xirp1	UTSW	9	120018208	missense	possibly damaging	0.77
R9629:Xirp1	UTSW	9	120017313	missense	probably benign	0.00
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'- CTGCATAGCATATACCGGGG -3'
(R):5'- GTTCCCTGGACACTCTGAAG -3'

Sequencing Primer
(F):5'- CATAGCATATACCGGGGCGTCAG -3'
(R):5'- CCACCCAAGGAGGAGGTGATTC -3'

Posted On

2017-02-28