Mutagenetix > Incidental Mutations

Incidental Mutation 'R6290:Xirp1'

508374

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

Is this an essential gene?

Possibly essential (E-score: 0.644) question?

Stock #

R6290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120013755-120023598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120018725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 364 (E364A)

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: E364A

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

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: E364A

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: 98.3%
20x: 95.2%

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
5830473C10Rik	T	C	5: 90,593,005		probably null	Het
Aim2	T	A	1: 173,462,115	I208N	possibly damaging	Het
Ank3	A	C	10: 69,991,368		probably benign	Het
Arfgef1	T	C	1: 10,188,811	E687G	possibly damaging	Het
Ash1l	T	A	3: 88,982,761	L649*	probably null	Het
Atp7b	C	T	8: 22,020,820	G437S	probably damaging	Het
BC067074	A	T	13: 113,319,958	N846I	probably damaging	Het
Cep89	G	A	7: 35,420,263	G349D	probably damaging	Het
Cntn6	T	A	6: 104,767,890	Y315N	probably damaging	Het
Csrp2	T	C	10: 110,931,983	C10R	probably damaging	Het
Cux1	T	C	5: 136,311,558	N625D	probably damaging	Het
Dnah9	T	C	11: 65,841,375	N4235S	probably damaging	Het
Dpy19l1	A	G	9: 24,462,600	C265R	probably damaging	Het
Dse	A	G	10: 34,152,340	M918T	probably benign	Het
Duox1	C	A	2: 122,333,807	T916N	possibly damaging	Het
E130308A19Rik	A	T	4: 59,691,332	I389F	probably benign	Het
Eif2ak1	T	A	5: 143,884,799	V311D	probably benign	Het
Eps15	T	A	4: 109,363,198	M534K	probably benign	Het
Gm156	A	G	6: 129,766,695	Y209H	probably benign	Het
Gpr182	A	T	10: 127,751,024	F19L	probably benign	Het
Ifi214	T	A	1: 173,529,417	D40V	probably damaging	Het
Klhl2	A	G	8: 64,811,699	V121A	possibly damaging	Het
Mylk	T	A	16: 34,894,843	S514T	probably benign	Het
Myo18b	C	T	5: 112,865,735	R785H	possibly damaging	Het
Naga	T	G	15: 82,334,856	D230A	possibly damaging	Het
Napsa	A	G	7: 44,581,337	N70D	probably benign	Het
Nup210l	T	A	3: 90,119,909	Y199*	probably null	Het
Olfml2b	A	T	1: 170,649,790	K165*	probably null	Het
Olfr352	C	T	2: 36,870,436	P290L	probably damaging	Het
Paxip1	A	T	5: 27,765,578		probably null	Het
Pcyox1	T	A	6: 86,388,899	K444N	probably benign	Het
Pikfyve	T	A	1: 65,202,925		probably null	Het
Ppp6r3	T	C	19: 3,494,011	I335V	probably benign	Het
Prkcz	A	G	4: 155,356,499	S71P	probably damaging	Het
Psg19	C	T	7: 18,794,089	R243Q	probably benign	Het
Ptbp2	A	T	3: 119,724,120	M382K	possibly damaging	Het
Slc16a14	T	A	1: 84,907,385	I478L	probably benign	Het
Slc45a1	A	T	4: 150,642,639	N174K	probably damaging	Het
Slc5a5	G	A	8: 70,891,178	T160I	probably damaging	Het
Smpdl3b	T	A	4: 132,738,275	H278L	possibly damaging	Het
Sorcs2	C	T	5: 36,062,587	R371H	probably damaging	Het
Synpo2	A	T	3: 123,117,052	S315T	probably damaging	Het
Taok3	A	G	5: 117,204,368	Y137C	probably damaging	Het
Tapbpl	T	C	6: 125,230,716	D49G	probably benign	Het
Tbr1	T	C	2: 61,805,050	S115P	probably benign	Het
Trim67	C	T	8: 124,823,179	T516I	probably benign	Het
Trrap	T	A	5: 144,805,018	L1351Q	probably damaging	Het
Tsc2	A	G	17: 24,596,910	I166T	probably benign	Het
Tspan8	T	A	10: 115,827,824	C22S	probably damaging	Het
Tyro3	T	C	2: 119,816,840	S813P	probably benign	Het
U2af2	G	T	7: 5,075,684	V421L	probably benign	Het
Vmn1r77	T	C	7: 12,041,809	S103P	probably damaging	Het
Vmn2r1	T	A	3: 64,105,452	D911E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Vmn2r56	A	T	7: 12,694,882	C486S	probably damaging	Het
Vwa8	A	G	14: 79,094,332		probably null	Het
Zbp1	T	C	2: 173,215,841	E99G	probably damaging	Het
Zfp385b	C	A	2: 77,450,268	V109F	possibly 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
R5939:Xirp1	UTSW	9	120018509	missense	probably benign	0.01
R6091:Xirp1	UTSW	9	120017963	missense	probably benign	0.01
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
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'- AATGCTGTCTAAGGGAAGGGTC -3'
(R):5'- TTGGATCTTTGAGACGCAGC -3'

Sequencing Primer
(F):5'- CATCATTCTGGGGGACACC -3'
(R):5'- AGACGCAGCCTTTGGATG -3'

Posted On

2018-03-15