Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01606:1600012H06Rik'

93430

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1600012H06Rik

Ensembl Gene

ENSMUSG00000050088

Gene Name

RIKEN cDNA 1600012H06 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

IGL01606

Quality Score

Status

Chromosome

Chromosomal Location

14943184-14959570 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14943863 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 84 (D84G)

Ref Sequence

ENSEMBL: ENSMUSP00000133628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024657] [ENSMUST00000052691] [ENSMUST00000164837] [ENSMUST00000168938] [ENSMUST00000174004] [ENSMUST00000228330]

Predicted Effect

probably benign
Transcript: ENSMUST00000024657

SMART Domains

Protein: ENSMUSP00000024657
Gene: ENSMUSG00000023883

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	44	55	N/A	INTRINSIC
low complexity region	200	207	N/A	INTRINSIC
low complexity region	281	310	N/A	INTRINSIC
PHD	378	433	1.22e-8	SMART
PHD	434	478	2.44e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000052691
AA Change: D84G

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

SMART Domains

Protein: ENSMUSP00000093344
Gene: ENSMUSG00000050088
AA Change: D84G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	150	166	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164837
AA Change: D84G

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

SMART Domains

Protein: ENSMUSP00000125970
Gene: ENSMUSG00000050088
AA Change: D84G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	150	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168938

SMART Domains

Protein: ENSMUSP00000125917
Gene: ENSMUSG00000023883

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	44	55	N/A	INTRINSIC
low complexity region	200	207	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172650

Predicted Effect

probably damaging
Transcript: ENSMUST00000174004
AA Change: D84G

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

SMART Domains

Protein: ENSMUSP00000133628
Gene: ENSMUSG00000050088
AA Change: D84G

Domain	Start	End	E-Value	Type
Pfam:UPF0669	1	185	7e-111	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228221

Predicted Effect

probably benign
Transcript: ENSMUST00000228330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228869

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved, N-glycosylated protein that likely functions in the cellular response to endoplasmic reticulum stress. This protein is able to induce apoptosis in vitro in CD4+ T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	A	T	10: 80,607,338	I337F	probably damaging	Het
Carmil3	T	A	14: 55,493,849	N128K	possibly damaging	Het
Ceacam2	T	C	7: 25,530,707	E158G	possibly damaging	Het
Cel	T	C	2: 28,560,564	I150V	probably benign	Het
Chd5	A	G	4: 152,360,975	H441R	probably damaging	Het
Clic5	G	T	17: 44,248,746	R109L	probably benign	Het
Cpd	T	C	11: 76,812,640	M466V	probably benign	Het
Cyp39a1	T	A	17: 43,746,618		probably benign	Het
Dnah11	C	A	12: 117,983,032	A3106S	probably benign	Het
Fasn	A	C	11: 120,809,023		probably null	Het
Fat1	G	A	8: 45,023,049	V1688I	probably benign	Het
Fibcd1	A	G	2: 31,833,853	I258T	probably benign	Het
Frem2	C	A	3: 53,653,591	R1165I	possibly damaging	Het
Gm5627	C	T	9: 102,749,486		noncoding transcript	Het
Gm5862	T	A	5: 26,019,516	T152S	probably benign	Het
Gnb3	T	A	6: 124,837,255	D154V	probably damaging	Het
Ighv1-14	T	C	12: 114,646,837		noncoding transcript	Het
Klrb1	C	A	6: 128,723,005	E14D	probably benign	Het
Osbpl1a	A	T	18: 12,756,214	D556E	possibly damaging	Het
Pkd1	T	C	17: 24,576,523	V2330A	probably damaging	Het
Pkdrej	T	C	15: 85,817,700	K1345R	possibly damaging	Het
Plxna4	A	G	6: 32,158,001	F1756L	probably damaging	Het
Psg28	A	C	7: 18,430,371	S139A	probably benign	Het
Ptpru	A	T	4: 131,808,481	I395N	possibly damaging	Het
Reps1	A	G	10: 18,107,687	E426G	probably damaging	Het
Rtp4	T	A	16: 23,613,254	S179T	probably benign	Het
Sh3pxd2a	C	A	19: 47,268,596	R561L	probably benign	Het
Slc29a2	T	A	19: 5,027,439	L215Q	possibly damaging	Het
Slc44a4	T	C	17: 34,929,018	F653L	probably damaging	Het
Sulf1	G	T	1: 12,836,204	R490L	possibly damaging	Het
Ttll4	T	C	1: 74,685,893	L602P	probably damaging	Het
Ttn	A	G	2: 76,776,790	V17963A	probably damaging	Het
Urb1	A	G	16: 90,760,459	S1760P	probably damaging	Het
Zmynd11	G	A	13: 9,697,688	R149W	probably damaging	Het

Other mutations in 1600012H06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:1600012H06Rik	APN	17	14943919	splice site	probably null
IGL01845:1600012H06Rik	APN	17	14944118	missense	probably damaging	1.00
ANU18:1600012H06Rik	UTSW	17	14943919	splice site	probably null
R0556:1600012H06Rik	UTSW	17	14943951	nonsense	probably null
R1983:1600012H06Rik	UTSW	17	14944010	missense	probably damaging	0.99
R4841:1600012H06Rik	UTSW	17	14943739	missense	possibly damaging	0.92
R4842:1600012H06Rik	UTSW	17	14943739	missense	possibly damaging	0.92
R7504:1600012H06Rik	UTSW	17	14943653	missense	probably damaging	0.97

Posted On

2013-12-09