Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01301:1600012H06Rik'

73227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1600012H06Rik

Ensembl Gene

ENSMUSG00000050088

Gene Name

RIKEN cDNA 1600012H06 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

IGL01301

Quality Score

Status

Chromosome

Chromosomal Location

14943184-14959570 bp(+) (GRCm38)

Type of Mutation

splice site (1090 bp from exon)

DNA Base Change (assembly)

C to T at 14943919 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024657 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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: H103Y

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

SMART Domains

Protein: ENSMUSP00000093344
Gene: ENSMUSG00000050088
AA Change: H103Y

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: H103Y

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

SMART Domains

Protein: ENSMUSP00000125970
Gene: ENSMUSG00000050088
AA Change: H103Y

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: H103Y

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

SMART Domains

Protein: ENSMUSP00000133628
Gene: ENSMUSG00000050088
AA Change: H103Y

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: ENSMUST00000228869

Predicted Effect

probably benign
Transcript: ENSMUST00000228330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228221

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,246,498	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,522,846	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,501,425	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,169,779	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,423,843		probably null	Het
Chst3	T	C	10: 60,185,832	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,518,455	L45P	probably damaging	Het
Defb21	A	G	2: 152,574,751	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,308,834	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,902,354	S325P	probably benign	Het
Fam91a1	T	C	15: 58,442,871	F534L	probably damaging	Het
Fermt2	T	C	14: 45,464,863	E488G	probably damaging	Het
Filip1	T	C	9: 79,819,180	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,445,151		noncoding transcript	Het
Glra3	C	A	8: 55,940,962	A36E	probably benign	Het
Gm9884	T	A	1: 25,830,648		probably benign	Het
Hectd2	T	C	19: 36,569,370		probably benign	Het
Hnrnpm	C	T	17: 33,669,168		probably null	Het
Lrrk2	T	A	15: 91,767,339	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,288,390	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,611,789	Y164*	probably null	Het
Msra	T	C	14: 64,210,435	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,548,916	A749T	probably damaging	Het
Ngdn	G	T	14: 55,017,114	A41S	probably benign	Het
Nlrp12	A	T	7: 3,240,092	S597T	probably damaging	Het
Olfr1451	A	T	19: 12,999,417	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,667,970	S551P	probably benign	Het
Plekhg5	C	T	4: 152,112,553	A752V	probably benign	Het
Prpf4b	T	C	13: 34,884,291	S368P	probably benign	Het
Pus7	A	G	5: 23,746,424		probably null	Het
Rad23b	T	C	4: 55,366,774		probably benign	Het
Rgs13	T	C	1: 144,171,414		probably benign	Het
Sfpq	T	C	4: 127,026,760		probably benign	Het
Slc9a9	T	A	9: 95,055,459	S455T	probably benign	Het
Slco1a1	A	G	6: 141,932,530		probably benign	Het
Tmem26	A	T	10: 68,778,606	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,380,769	I232V	probably benign	Het
Trpm2	A	G	10: 77,923,984	L1106P	probably damaging	Het
Vmn1r18	T	C	6: 57,389,667		probably benign	Het
Zfp213	G	T	17: 23,561,417	A43D	probably benign	Het
Zfp365	A	G	10: 67,909,354	V198A	probably damaging	Het
Zfp395	T	A	14: 65,394,751		probably null	Het
Zfp618	G	A	4: 63,132,826	V615M	probably damaging	Het

Other mutations in 1600012H06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:1600012H06Rik	APN	17	14943863	missense	probably damaging	1.00
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
R9697:1600012H06Rik	UTSW	17	14943507	unclassified	probably benign

Posted On

2013-10-07