Mutagenetix > Incidental Mutation

Incidental Mutation 'R5578:Itm2c'

437281

Institutional Source

Beutler Lab

Gene Symbol

Itm2c

Ensembl Gene

ENSMUSG00000026223

Gene Name

integral membrane protein 2C

Synonyms

ITM3, Bricd2c, 3110038L02Rik, BRI3

MMRRC Submission

043133-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R5578 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85822231-85836419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85830774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 57 (V57E)

Ref Sequence

ENSEMBL: ENSMUSP00000027425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027425] [ENSMUST00000185569]

AlphaFold

Q91VK4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027425
AA Change: V57E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027425
Gene: ENSMUSG00000026223
AA Change: V57E

Domain	Start	End	E-Value	Type
low complexity region	9	34	N/A	INTRINSIC
transmembrane domain	60	82	N/A	INTRINSIC
BRICHOS	138	232	1.28e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139837

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185569
AA Change: V57E

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140692
Gene: ENSMUSG00000026223
AA Change: V57E

Domain	Start	End	E-Value	Type
low complexity region	9	34	N/A	INTRINSIC
transmembrane domain	60	82	N/A	INTRINSIC
BRICHOS	138	195	9.9e-6	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,926,932 (GRCm39)	S521P	probably benign	Het
Aqp11	A	G	7: 97,386,665 (GRCm39)	F177S	probably damaging	Het
Arhgap40	G	T	2: 158,373,126 (GRCm39)	G128V	probably damaging	Het
Aspm	A	T	1: 139,398,455 (GRCm39)	K1011I	probably damaging	Het
Cachd1	A	G	4: 100,722,203 (GRCm39)	T89A	probably benign	Het
Cep89	ACTCCTCCTCCTCCTCCTCCTCCTC	ACTCCTCCTCCTCCTCCTCCTC	7: 35,109,067 (GRCm39)		probably benign	Het
Cfhr2	A	T	1: 139,758,806 (GRCm39)	C81*	probably null	Het
Chd7	A	G	4: 8,847,149 (GRCm39)	T1631A	probably benign	Het
Clca4b	T	A	3: 144,638,196 (GRCm39)	D22V	probably benign	Het
Csnk2a1-ps3	A	G	1: 156,352,800 (GRCm39)	M334V	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp39a1	T	A	17: 43,991,031 (GRCm39)	N113K	possibly damaging	Het
Dnah11	A	T	12: 117,982,537 (GRCm39)	V2544D	probably damaging	Het
Dnai3	A	T	3: 145,802,983 (GRCm39)	Y69*	probably null	Het
Esr1	A	C	10: 4,919,164 (GRCm39)	Q418P	probably damaging	Het
Fam89a	T	A	8: 125,467,968 (GRCm39)	K115*	probably null	Het
Fstl4	T	A	11: 53,056,608 (GRCm39)	V455D	probably damaging	Het
Gm20730	T	A	6: 43,058,474 (GRCm39)	M113L	probably benign	Het
H2ac21	T	C	3: 96,127,554 (GRCm39)	V108A	probably damaging	Het
Hk3	C	T	13: 55,159,994 (GRCm39)	V327M	probably damaging	Het
Lrba	T	C	3: 86,664,814 (GRCm39)	Y565H	probably benign	Het
Mab21l1	C	T	3: 55,691,435 (GRCm39)	Q341*	probably null	Het
Mdm2	C	T	10: 117,538,192 (GRCm39)	E69K	possibly damaging	Het
Mdn1	A	T	4: 32,728,167 (GRCm39)	I2709F	probably benign	Het
Mpp7	T	C	18: 7,355,101 (GRCm39)	N442D	probably benign	Het
Ncoa3	A	G	2: 165,896,248 (GRCm39)	I384V	probably benign	Het
Pm20d1	A	G	1: 131,743,760 (GRCm39)	N475S	probably benign	Het
Rhpn2	A	G	7: 35,070,135 (GRCm39)	D131G	probably damaging	Het
S1pr5	T	A	9: 21,155,847 (GRCm39)	Y193F	probably damaging	Het
Sdk1	A	T	5: 141,598,880 (GRCm39)	K182*	probably null	Het
Slx4	T	A	16: 3,804,726 (GRCm39)	E696V	probably damaging	Het
Smyd4	C	T	11: 75,295,602 (GRCm39)	P753S	probably benign	Het
Stambp	T	G	6: 83,538,782 (GRCm39)	D206A	probably benign	Het
Sult5a1	G	T	8: 123,869,860 (GRCm39)	Y262*	probably null	Het
Taar1	A	T	10: 23,796,718 (GRCm39)	I139F	possibly damaging	Het
Tchh	A	T	3: 93,351,618 (GRCm39)	R353*	probably null	Het
Thnsl2	C	T	6: 71,115,749 (GRCm39)	V153I	probably benign	Het
Trmt5	C	T	12: 73,331,837 (GRCm39)		probably null	Het
Trpa1	T	A	1: 14,957,232 (GRCm39)	Y728F	probably damaging	Het
Usp19	T	C	9: 108,370,639 (GRCm39)	V126A	probably benign	Het
Vcan	A	G	13: 89,839,622 (GRCm39)	V1974A	probably benign	Het
Vmn2r120	T	A	17: 57,829,514 (GRCm39)	H461L	probably benign	Het
Zfp445	T	C	9: 122,682,402 (GRCm39)	Y513C	probably benign	Het
Zfp84	A	C	7: 29,474,856 (GRCm39)	M43L	possibly damaging	Het

Other mutations in Itm2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02547:Itm2c	APN	1	85,834,182 (GRCm39)	missense	probably damaging	1.00
R0322:Itm2c	UTSW	1	85,834,751 (GRCm39)	missense	probably damaging	1.00
R4273:Itm2c	UTSW	1	85,834,750 (GRCm39)	missense	probably damaging	1.00
R5021:Itm2c	UTSW	1	85,833,059 (GRCm39)	missense	probably damaging	1.00
R5026:Itm2c	UTSW	1	85,834,213 (GRCm39)	missense	probably damaging	1.00
R5211:Itm2c	UTSW	1	85,834,249 (GRCm39)	missense	probably damaging	1.00
R6137:Itm2c	UTSW	1	85,822,413 (GRCm39)	missense	probably benign	0.08
R7027:Itm2c	UTSW	1	85,834,206 (GRCm39)	missense	probably benign	0.04
R7912:Itm2c	UTSW	1	85,833,032 (GRCm39)	missense	probably damaging	1.00
R8240:Itm2c	UTSW	1	85,822,457 (GRCm39)	missense	probably benign	0.02
R9372:Itm2c	UTSW	1	85,833,055 (GRCm39)	missense	probably damaging	1.00
R9493:Itm2c	UTSW	1	85,834,255 (GRCm39)	critical splice donor site	probably null
Z1176:Itm2c	UTSW	1	85,834,248 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- ACAGAAACTTGGGCAAGACAATCTG -3'
(R):5'- ACTGTCTCTCTTCACTGGGG -3'

Sequencing Primer
(F):5'- AATCTGTATTGTCCTTCTGGCC -3'
(R):5'- TCTTCACTGGGGCCTCAG -3'

Posted On

2016-10-26