Mutagenetix > Incidental Mutations

Incidental Mutation 'R3981:Xirp1'

351177

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

040943-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

R3981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120013755-120023598 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120017744 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 691 (E691G)

Ref Sequence

ENSEMBL: ENSMUSP00000107262 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111635
AA Change: E691G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107262
Gene: ENSMUSG00000079243
AA Change: E691G

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

0.2980

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (58/59)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	C	T	4: 42,971,534	T289I	probably damaging	Het
Abca13	T	G	11: 9,532,407	C4313G	probably benign	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Bhlhe22	G	T	3: 18,054,894	R36L	probably damaging	Het
Cacnb2	A	G	2: 14,604,503	E18G	probably benign	Het
Cct2	G	A	10: 117,054,135	P10L	probably damaging	Het
Cep295	G	T	9: 15,317,067		probably benign	Het
Cep89	A	G	7: 35,438,383	R731G	probably damaging	Het
Chrnb3	C	T	8: 27,394,006	T257M	probably damaging	Het
Clca3a1	T	A	3: 144,755,309	T194S	probably benign	Het
Clca4b	T	C	3: 144,926,036	K236R	probably benign	Het
Col18a1	C	A	10: 77,088,887	D23Y	probably damaging	Het
Cry1	A	T	10: 85,146,592	Y297N	probably damaging	Het
Defb38	A	G	8: 19,026,467		probably null	Het
Dlgap1	A	G	17: 70,516,785	K255R	probably damaging	Het
Erich6	T	C	3: 58,636,704	E154G	probably benign	Het
Esf1	G	A	2: 140,158,556	P437S	probably benign	Het
Fkbp7	A	C	2: 76,663,257	N197K	probably damaging	Het
Fsip2	T	A	2: 82,958,662	D342E	probably benign	Het
Gbx1	T	C	5: 24,526,215	D201G	probably benign	Het
Gm15056	T	A	8: 20,900,941	K25N	possibly damaging	Het
Grb7	T	G	11: 98,454,565		probably benign	Het
H2-M3	C	T	17: 37,271,130	A159V	probably damaging	Het
Hcar1	T	C	5: 123,878,620	N336S	probably benign	Het
Ift122	T	C	6: 115,913,921	V807A	probably benign	Het
Maml2	T	C	9: 13,621,068	V526A	possibly damaging	Het
Map3k20	C	T	2: 72,438,227	T526I	probably damaging	Het
Mfap2	A	G	4: 141,014,243	Q71R	possibly damaging	Het
Mmd2	T	C	5: 142,564,799	Y228C	probably damaging	Het
Mme	T	A	3: 63,328,064	Y178N	probably damaging	Het
Mras	T	C	9: 99,411,416	D57G	probably damaging	Het
Muc5ac	T	C	7: 141,813,775	C2274R	possibly damaging	Het
Olfr1062	T	A	2: 86,422,842	Y278F	probably damaging	Het
Palmd	T	C	3: 116,923,823	T342A	probably benign	Het
Prpmp5	G	A	6: 132,312,694	P56S	unknown	Het
Rdh19	A	G	10: 127,850,148	N43S	probably benign	Het
Ros1	G	A	10: 52,120,878	H1233Y	possibly damaging	Het
Samd8	A	G	14: 21,780,180	R225G	probably null	Het
Slc7a11	C	A	3: 50,427,774	V175L	probably benign	Het
Spata31d1c	A	G	13: 65,035,111	T156A	possibly damaging	Het
Stxbp5	T	C	10: 9,789,316		probably benign	Het
Tec	T	A	5: 72,823,599		probably benign	Het
Tex37	T	C	6: 70,913,299	N170D	possibly damaging	Het
Vps16	T	C	2: 130,442,594	W728R	possibly damaging	Het
Zfp605	T	C	5: 110,127,738	S241P	probably damaging	Het
Zfp839	G	A	12: 110,866,331	G561D	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
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
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'- ATGGCCTGCAGAGCCTTTTG -3'
(R):5'- TCCTGCACCTGGATGTTTG -3'

Sequencing Primer
(F):5'- GAGGTTGTCCCCTCTGATGC -3'
(R):5'- GGATGTTTGGGCCCCAATCTC -3'

Posted On

2015-10-08