Mutagenetix > Incidental Mutation

Incidental Mutation 'R7504:1600012H06Rik'

581690

Institutional Source

Beutler Lab

Gene Symbol

1600012H06Rik

Ensembl Gene

ENSMUSG00000050088

Gene Name

RIKEN cDNA 1600012H06 gene

Synonyms

MMRRC Submission

045577-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R7504 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15163446-15166201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 15163915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 14 (A14G)

Ref Sequence

ENSEMBL: ENSMUSP00000093344 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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: A14G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093344
Gene: ENSMUSG00000050088
AA Change: A14G

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: A14G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125970
Gene: ENSMUSG00000050088
AA Change: A14G

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

probably damaging
Transcript: ENSMUST00000174004
AA Change: A14G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133628
Gene: ENSMUSG00000050088
AA Change: A14G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228330

Meta Mutation Damage Score

0.2290

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btn1a1	A	T	13: 23,645,886 (GRCm39)	M161K	probably benign	Het
Camkk2	G	A	5: 122,884,371 (GRCm39)	T350I	probably damaging	Het
Cdc42bpg	C	A	19: 6,356,814 (GRCm39)	D23E	possibly damaging	Het
Cdkn1a	T	C	17: 29,317,488 (GRCm39)	L36P	probably damaging	Het
Dek	A	G	13: 47,241,511 (GRCm39)	I351T	probably damaging	Het
Dst	T	C	1: 34,240,098 (GRCm39)	Y1816H	probably damaging	Het
Efl1	T	A	7: 82,332,257 (GRCm39)	N300K	probably damaging	Het
Ephx2	A	G	14: 66,339,066 (GRCm39)	Y294H	probably damaging	Het
Fancd2	T	A	6: 113,521,999 (GRCm39)	I198N	probably damaging	Het
Grid1	G	T	14: 35,284,470 (GRCm39)	A738S	probably damaging	Het
Gsx2	G	A	5: 75,237,060 (GRCm39)		probably null	Het
Hc	G	A	2: 34,951,331 (GRCm39)	T22I	not run	Het
Hps1	T	C	19: 42,755,159 (GRCm39)	D261G	probably benign	Het
Ift80	T	C	3: 68,825,338 (GRCm39)	Y539C	probably damaging	Het
Insc	G	T	7: 114,390,533 (GRCm39)		probably null	Het
Isg15	T	C	4: 156,284,502 (GRCm39)	M9V	probably damaging	Het
Kalrn	A	G	16: 34,076,603 (GRCm39)	L695P	unknown	Het
Nars1	A	C	18: 64,645,093 (GRCm39)	F52V	probably benign	Het
Nmt1	T	G	11: 102,947,285 (GRCm39)	F225V	probably damaging	Het
Or10q12	T	A	19: 13,746,096 (GRCm39)	I130N	probably damaging	Het
Or7a36	A	G	10: 78,820,494 (GRCm39)	Y290C	possibly damaging	Het
Or8c8	A	T	9: 38,165,539 (GRCm39)	K272N	possibly damaging	Het
Pbx3	T	C	2: 34,065,936 (GRCm39)	T385A	probably damaging	Het
Pcdhb11	A	T	18: 37,554,852 (GRCm39)	T61S	probably benign	Het
Pramel40	G	T	5: 94,464,906 (GRCm39)	V431L	probably benign	Het
Rab11fip1	T	C	8: 27,642,981 (GRCm39)	E606G	possibly damaging	Het
Rnf216	A	G	5: 143,061,514 (GRCm39)	Y589H	probably benign	Het
Scara3	A	G	14: 66,168,780 (GRCm39)	I279T	possibly damaging	Het
Sdk2	T	A	11: 113,758,793 (GRCm39)	Y477F	possibly damaging	Het
Secisbp2l	T	C	2: 125,600,091 (GRCm39)	K415E	probably benign	Het
Stag1	C	T	9: 100,770,381 (GRCm39)	T639I	probably benign	Het
Sv2b	A	T	7: 74,786,131 (GRCm39)	F430I	probably benign	Het
Tenm2	C	T	11: 36,030,570 (GRCm39)	C743Y	probably damaging	Het
Tet2	C	A	3: 133,193,100 (GRCm39)	V445L	probably benign	Het
Tmem132c	T	C	5: 127,631,696 (GRCm39)	S652P	probably damaging	Het
Togaram1	A	G	12: 65,039,391 (GRCm39)	D1155G	possibly damaging	Het
Traip	T	C	9: 107,838,743 (GRCm39)	I169T	probably benign	Het
Trmt9b	A	C	8: 36,979,309 (GRCm39)	N304T	probably benign	Het
Usp45	T	G	4: 21,816,892 (GRCm39)	M374R	possibly damaging	Het
Vmn2r81	A	T	10: 79,104,166 (GRCm39)	H263L	probably benign	Het
Wdr95	T	C	5: 149,505,311 (GRCm39)	V364A	probably damaging	Het
Zfp128	G	A	7: 12,624,405 (GRCm39)	D258N	probably damaging	Het
Zfp335	G	A	2: 164,751,338 (GRCm39)	T76I	probably benign	Het
Zfp688	C	A	7: 127,018,483 (GRCm39)	C214F	probably damaging	Het
Zfp760	T	C	17: 21,941,655 (GRCm39)	S277P	probably damaging	Het

Other mutations in 1600012H06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:1600012H06Rik	APN	17	15,164,181 (GRCm39)	splice site	probably null
IGL01606:1600012H06Rik	APN	17	15,164,125 (GRCm39)	missense	probably damaging	1.00
IGL01845:1600012H06Rik	APN	17	15,164,380 (GRCm39)	missense	probably damaging	1.00
ANU18:1600012H06Rik	UTSW	17	15,164,181 (GRCm39)	splice site	probably null
R0556:1600012H06Rik	UTSW	17	15,164,213 (GRCm39)	nonsense	probably null
R1983:1600012H06Rik	UTSW	17	15,164,272 (GRCm39)	missense	probably damaging	0.99
R4841:1600012H06Rik	UTSW	17	15,164,001 (GRCm39)	missense	possibly damaging	0.92
R4842:1600012H06Rik	UTSW	17	15,164,001 (GRCm39)	missense	possibly damaging	0.92
R9697:1600012H06Rik	UTSW	17	15,163,769 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTATTCTCCAGACACCTGCG -3'
(R):5'- CTCATAGTCGTCGAAGCTCG -3'

Sequencing Primer
(F):5'- AGGGGCCTGTCCTAAGGTC -3'
(R):5'- AGTGCTGTCCGACACGTACAG -3'

Posted On

2019-10-17