Mutagenetix > Incidental Mutations

Incidental Mutation 'R5297:Xirp1'

405492

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

042880-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5297 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120013755-120023598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120019602 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 72 (A72S)

Ref Sequence

ENSEMBL: ENSMUSP00000107262 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111635
AA Change: A72S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: A72S

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	G	T	1: 155,587,458	A135S	probably benign	Het
Agbl4	A	G	4: 111,566,698	K307R	possibly damaging	Het
AI481877	A	G	4: 59,047,543	W1359R	probably benign	Het
Akna	T	C	4: 63,381,846	E653G	possibly damaging	Het
Arhgap26	T	C	18: 39,121,888	Y273H	probably damaging	Het
Atg14	G	A	14: 47,568,199	R70C	probably damaging	Het
Atp1a1	C	T	3: 101,591,127	V250M	possibly damaging	Het
Cacna1c	T	G	6: 118,742,361	D215A	probably damaging	Het
Cadps	T	A	14: 12,822,345	N132Y	probably damaging	Het
Casp6	T	C	3: 129,910,555	F97L	possibly damaging	Het
Ckap2l	T	C	2: 129,285,370	N296S	possibly damaging	Het
Col6a4	T	C	9: 106,074,867	K611E	probably benign	Het
Copa	A	G	1: 172,113,108	H696R	probably damaging	Het
Cyp2a4	T	A	7: 26,312,204	N283K	probably benign	Het
Dcc	C	T	18: 71,378,738	V869I	probably benign	Het
Efemp1	G	T	11: 28,867,868	G116C	probably damaging	Het
F830045P16Rik	T	C	2: 129,460,553	E373G	probably benign	Het
Fbxo9	T	C	9: 78,086,279	T318A	probably benign	Het
Gipr	A	G	7: 19,157,544	W403R	probably damaging	Het
Gm10093	A	G	17: 78,492,758	S393G	probably benign	Het
Gm12794	T	A	4: 101,941,151	D106E	possibly damaging	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Golgb1	G	A	16: 36,875,616		probably benign	Het
Herc3	T	C	6: 58,856,641	L171P	probably damaging	Het
Il5ra	A	G	6: 106,738,134	I221T	probably benign	Het
Itgb2	A	G	10: 77,564,667	I705V	probably damaging	Het
Map4k4	G	T	1: 39,962,217	V55F	probably damaging	Het
Mast1	A	G	8: 84,913,318		probably null	Het
Mitf	G	T	6: 97,994,430	G186V	probably benign	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Nrcam	T	C	12: 44,544,784	F204L	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1111	T	C	2: 87,150,449	I71V	probably benign	Het
Olfr1510	A	G	14: 52,410,218	L218P	probably damaging	Het
Olfr248	A	G	1: 174,391,200	M44V	probably benign	Het
Olfr381	A	T	11: 73,486,389	V145E	probably damaging	Het
Olfr446	T	C	6: 42,927,437	S69P	probably benign	Het
Olfr503	A	T	7: 108,545,404	N291I	probably damaging	Het
Pclo	A	T	5: 14,676,249		probably benign	Het
Pik3ca	T	A	3: 32,450,053	Y631N	probably damaging	Het
Ptk2b	T	C	14: 66,172,517	D462G	probably benign	Het
Rnf19a	A	G	15: 36,247,778	S427P	probably damaging	Het
Scn3a	T	A	2: 65,469,034	Y1376F	possibly damaging	Het
Spem1	A	G	11: 69,820,927	Y304H	probably damaging	Het
Stk38l	C	A	6: 146,775,655	Y450*	probably null	Het
Stx19	A	G	16: 62,821,974	E51G	probably damaging	Het
Ttc41	C	G	10: 86,776,579	Q1239E	probably benign	Het
Tuba3a	C	T	6: 125,281,340	R229H	probably damaging	Het
Utp18	A	T	11: 93,876,089	V264D	probably damaging	Het
V1rd19	T	C	7: 24,003,289	V60A	probably damaging	Het
Virma	T	G	4: 11,494,819	V40G	probably damaging	Het
Vmn1r160	C	T	7: 22,871,290	Q23*	probably null	Het
Vmn2r13	T	C	5: 109,191,939	I57V	probably benign	Het
Vmn2r26	T	A	6: 124,061,873	F802L	probably damaging	Het
Vmn2r61	A	G	7: 42,260,222	D57G	probably benign	Het
Vps13c	A	G	9: 67,878,131	N260S	probably damaging	Het
Zfp212	T	C	6: 47,929,077	V190A	probably benign	Het
Zfp703	C	T	8: 26,979,205	P299L	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
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'- GCTGTTGGTAAAGGAGCCTTC -3'
(R):5'- GATGCAGGTAGCTCCTACAC -3'

Sequencing Primer
(F):5'- TCCTCAAACTTTCGAGAGGTGGC -3'
(R):5'- GGTAGCTCCTACACCAACCATC -3'

Posted On

2016-07-22