Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02547:Itm2c'

297854

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itm2c

Ensembl Gene

ENSMUSG00000026223

Gene Name

integral membrane protein 2C

Synonyms

ITM3, Bricd2c, 3110038L02Rik, BRI3

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

IGL02547

Quality Score

Status

Chromosome

Chromosomal Location

85822231-85836419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85834182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 166 (Y166H)

Ref Sequence

ENSEMBL: ENSMUSP00000027425 (fasta)

Gene Model

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

AlphaFold

Q91VK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027425
AA Change: Y166H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027425
Gene: ENSMUSG00000026223
AA Change: Y166H

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

probably benign
Transcript: ENSMUST00000185569

SMART Domains

Protein: ENSMUSP00000140692
Gene: ENSMUSG00000026223

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,187,479 (GRCm39)	L1631H	probably damaging	Het
Atf7ip	T	A	6: 136,580,274 (GRCm39)		probably benign	Het
Atp5po	A	T	16: 91,725,849 (GRCm39)	Y48N	probably damaging	Het
Birc6	T	G	17: 74,886,640 (GRCm39)	M656R	probably benign	Het
Camkk1	A	G	11: 72,929,259 (GRCm39)	R455G	probably benign	Het
Casr	A	T	16: 36,336,036 (GRCm39)	M91K	probably benign	Het
Ccdc28a	A	T	10: 18,089,894 (GRCm39)	V124D	possibly damaging	Het
Ccnh	T	C	13: 85,350,623 (GRCm39)		probably benign	Het
Cdc37	G	T	9: 21,051,262 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,389,950 (GRCm39)	D868G	probably damaging	Het
Cstdc3	A	T	16: 36,132,888 (GRCm39)		probably benign	Het
Cyp4f15	A	G	17: 32,919,229 (GRCm39)	R351G	probably benign	Het
Dclk3	T	C	9: 111,298,091 (GRCm39)	I545T	probably damaging	Het
Dock4	A	G	12: 40,787,478 (GRCm39)	M798V	probably benign	Het
Gas7	A	T	11: 67,556,261 (GRCm39)	Q200L	probably damaging	Het
Ica1	T	C	6: 8,670,691 (GRCm39)		probably null	Het
Idh3a	T	A	9: 54,499,679 (GRCm39)	V31D	probably benign	Het
Il3ra	A	T	14: 14,351,970 (GRCm38)	T247S	probably benign	Het
Itgb7	A	G	15: 102,126,945 (GRCm39)	C497R	probably damaging	Het
Mphosph8	A	G	14: 56,909,941 (GRCm39)	D98G	probably damaging	Het
Mstn	A	T	1: 53,103,284 (GRCm39)	I207F	probably benign	Het
Muc15	A	G	2: 110,561,650 (GRCm39)	R29G	probably damaging	Het
Neb	T	A	2: 52,078,742 (GRCm39)	T142S	probably damaging	Het
Nipbl	G	A	15: 8,381,082 (GRCm39)	T570I	probably benign	Het
Nr5a2	T	A	1: 136,868,665 (GRCm39)	M196L	probably benign	Het
Nrp1	C	A	8: 129,219,512 (GRCm39)	F643L	probably benign	Het
Or52ad1	A	G	7: 102,995,451 (GRCm39)	F228S	probably damaging	Het
Or52z15	T	C	7: 103,331,973 (GRCm39)	I16T	probably benign	Het
Or5a3	A	T	19: 12,399,675 (GRCm39)	M1L	probably benign	Het
Or8h8	A	G	2: 86,753,372 (GRCm39)	F168S	probably damaging	Het
Osbpl9	C	T	4: 108,925,680 (GRCm39)	W446*	probably null	Het
Pced1a	T	C	2: 130,261,627 (GRCm39)	D342G	possibly damaging	Het
Pira13	T	C	7: 3,824,660 (GRCm39)	D573G	probably damaging	Het
Prkcd	C	A	14: 30,321,426 (GRCm39)	W555L	probably damaging	Het
Prpf31	T	C	7: 3,633,898 (GRCm39)	S78P	probably benign	Het
Psg27	T	C	7: 18,294,553 (GRCm39)	T285A	probably benign	Het
Retreg3	A	T	11: 100,997,204 (GRCm39)	L92*	probably null	Het
Rmdn1	A	G	4: 19,605,501 (GRCm39)	K282E	possibly damaging	Het
Septin8	G	T	11: 53,428,092 (GRCm39)	R302L	probably damaging	Het
Serpina3a	A	G	12: 104,082,802 (GRCm39)	I192V	probably damaging	Het
Sgce	T	C	6: 4,711,301 (GRCm39)		probably benign	Het
Slco1a8	A	T	6: 141,936,116 (GRCm39)	L323Q	probably damaging	Het
Spats1	A	T	17: 45,785,743 (GRCm39)		probably benign	Het
Tcerg1l	C	T	7: 137,850,100 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,559,730 (GRCm39)	V21230A	probably damaging	Het
Ubxn11	A	C	4: 133,836,895 (GRCm39)	D41A	possibly damaging	Het
Vps13c	T	G	9: 67,815,301 (GRCm39)	I979S	possibly damaging	Het
Zc3h6	T	A	2: 128,857,531 (GRCm39)	H683Q	probably benign	Het
Zfp1007	C	T	5: 109,826,628 (GRCm39)		probably null	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp629	T	C	7: 127,210,846 (GRCm39)		probably null	Het

Other mutations in Itm2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5578:Itm2c	UTSW	1	85,830,774 (GRCm39)	missense	possibly damaging	0.63
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

Posted On

2015-04-16