Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00231:Insig2'

2527

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Insig2

Ensembl Gene

ENSMUSG00000003721

Gene Name

insulin induced gene 2

Synonyms

C730043J18Rik, Insig-2, 2900053I11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

IGL00231

Quality Score

Status

Chromosome

Chromosomal Location

121232082-121260318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121233676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 213 (Y213H)

Ref Sequence

ENSEMBL: ENSMUSP00000123747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003818] [ENSMUST00000071064] [ENSMUST00000159085] [ENSMUST00000160688] [ENSMUST00000160968] [ENSMUST00000186915] [ENSMUST00000162582] [ENSMUST00000162790]

AlphaFold

Q91WG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000003818
AA Change: Y213H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003818
Gene: ENSMUSG00000003721
AA Change: Y213H

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	211	9.2e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071064
AA Change: Y213H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065485
Gene: ENSMUSG00000003721
AA Change: Y213H

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	211	9.2e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159085
AA Change: Y213H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124345
Gene: ENSMUSG00000003721
AA Change: Y213H

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	211	9.2e-79	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159528

Predicted Effect

silent
Transcript: ENSMUST00000160688

SMART Domains

Protein: ENSMUSP00000123702
Gene: ENSMUSG00000003721

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	76	7.2e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160968
AA Change: Y213H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123747
Gene: ENSMUSG00000003721
AA Change: Y213H

Domain	Start	End	E-Value	Type
Pfam:INSIG	30	211	7.7e-50	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186915
AA Change: Y105H

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140292
Gene: ENSMUSG00000003721
AA Change: Y105H

Domain	Start	End	E-Value	Type
Pfam:INSIG	1	103	1.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162582

SMART Domains

Protein: ENSMUSP00000125046
Gene: ENSMUSG00000003721

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	85	1.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162790

SMART Domains

Protein: ENSMUSP00000124697
Gene: ENSMUSG00000003721

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	146	1.3e-49	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	G	4: 86,303,877 (GRCm39)	T1346A	probably benign	Het
Ccdc102a	T	C	8: 95,638,266 (GRCm39)		probably null	Het
Cgrrf1	T	C	14: 47,069,779 (GRCm39)	F16S	probably damaging	Het
Clybl	T	C	14: 122,616,610 (GRCm39)		probably benign	Het
Cubn	T	C	2: 13,386,660 (GRCm39)	E1535G	possibly damaging	Het
Dmrtc1b	C	A	X: 101,757,233 (GRCm39)	P226H	probably benign	Het
Dnah17	G	A	11: 117,979,040 (GRCm39)	A1784V	possibly damaging	Het
Dnajc24	A	G	2: 105,832,348 (GRCm39)	Y12H	probably damaging	Het
Drd1	T	C	13: 54,207,486 (GRCm39)	T236A	probably benign	Het
Ep400	A	T	5: 110,835,707 (GRCm39)	V1934D	unknown	Het
Flt1	A	G	5: 147,517,110 (GRCm39)		probably null	Het
Fut8	A	G	12: 77,495,262 (GRCm39)	K284R	probably benign	Het
Hcn1	A	G	13: 118,112,529 (GRCm39)	E831G	probably damaging	Het
Inpp5j	A	T	11: 3,450,009 (GRCm39)		probably benign	Het
Kcnh4	G	A	11: 100,647,821 (GRCm39)		probably benign	Het
Kifc2	T	A	15: 76,551,662 (GRCm39)		probably benign	Het
Krt75	T	C	15: 101,481,081 (GRCm39)	E231G	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mfsd4b2	T	A	10: 39,801,057 (GRCm39)		probably benign	Het
Micall2	T	A	5: 139,703,311 (GRCm39)		probably null	Het
Or10ag2	A	G	2: 87,248,910 (GRCm39)	T173A	possibly damaging	Het
Or8s5	C	T	15: 98,238,054 (GRCm39)	S256N	possibly damaging	Het
Osbp2	C	T	11: 3,676,561 (GRCm39)	D287N	possibly damaging	Het
Plin1	A	G	7: 79,376,408 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,907,409 (GRCm39)	N962S	probably benign	Het
Psg25	C	T	7: 18,260,106 (GRCm39)		probably benign	Het
Ptprt	A	T	2: 161,652,544 (GRCm39)	D601E	probably benign	Het
S100a7l2	A	G	3: 90,995,665 (GRCm39)	M79T	probably benign	Het
Sbno2	C	A	10: 79,900,340 (GRCm39)		probably benign	Het
Sntg2	T	C	12: 30,326,720 (GRCm39)	D147G	probably benign	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Stam2	T	A	2: 52,596,418 (GRCm39)	I307F	possibly damaging	Het
Tbx21	T	G	11: 96,989,749 (GRCm39)	E481A	probably damaging	Het
Tsc2	G	A	17: 24,827,081 (GRCm39)	T876I	probably damaging	Het
Wdfy4	T	C	14: 32,824,496 (GRCm39)	I1308V	possibly damaging	Het
Wdr37	C	T	13: 8,870,541 (GRCm39)	V143I	probably damaging	Het
Wdr43	T	G	17: 71,959,809 (GRCm39)	Y550D	probably damaging	Het
Wnk4	A	G	11: 101,159,574 (GRCm39)	D593G	possibly damaging	Het

Other mutations in Insig2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03038:Insig2	APN	1	121,247,403 (GRCm39)	missense	probably damaging	1.00
R0037:Insig2	UTSW	1	121,234,649 (GRCm39)	missense	probably damaging	1.00
R1458:Insig2	UTSW	1	121,234,885 (GRCm39)	missense	probably benign	0.07
R4544:Insig2	UTSW	1	121,239,921 (GRCm39)	splice site	probably benign
R5077:Insig2	UTSW	1	121,239,964 (GRCm39)	missense	probably damaging	0.98
R7325:Insig2	UTSW	1	121,234,666 (GRCm39)	missense	possibly damaging	0.82
R7829:Insig2	UTSW	1	121,235,058 (GRCm39)	splice site	probably null
R7839:Insig2	UTSW	1	121,240,049 (GRCm39)	missense	probably benign	0.01
R8340:Insig2	UTSW	1	121,234,946 (GRCm39)	missense	probably damaging	1.00
R9646:Insig2	UTSW	1	121,240,040 (GRCm39)	missense	probably damaging	1.00
X0061:Insig2	UTSW	1	121,234,692 (GRCm39)	missense	probably damaging	0.99
X0066:Insig2	UTSW	1	121,233,678 (GRCm39)	critical splice acceptor site	probably null

Posted On

2011-12-09