Mutagenetix > Incidental Mutation

Incidental Mutation 'R2896:Gm8374'

260800

Institutional Source

Beutler Lab

Gene Symbol

Gm8374

Ensembl Gene

ENSMUSG00000091676

Gene Name

predicted gene 8374

Synonyms

MMRRC Submission

040484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R2896 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

15104639-15107676 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 18537084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 47 (R47*)

Ref Sequence

ENSEMBL: ENSMUSP00000128994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163826]

AlphaFold

L7N2A9

Predicted Effect

probably null
Transcript: ENSMUST00000163826
AA Change: R47*

SMART Domains

Protein: ENSMUSP00000128994
Gene: ENSMUSG00000091676
AA Change: R47*

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	1.3e-22	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	C	T	9: 106,327,313 (GRCm39)	R32C	probably benign	Het
Bpifb4	T	G	2: 153,796,357 (GRCm39)		probably benign	Het
Cachd1	T	A	4: 100,828,100 (GRCm39)	L616Q	probably damaging	Het
Cmklr2	T	A	1: 63,222,321 (GRCm39)	I305L	probably benign	Het
Crebbp	A	G	16: 3,956,680 (GRCm39)	L381P	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Esp6	T	A	17: 40,873,834 (GRCm39)	M7K	possibly damaging	Het
Fam83d	G	A	2: 158,627,898 (GRCm39)	R529Q	probably damaging	Het
Gm26526	T	G	7: 39,238,437 (GRCm39)		noncoding transcript	Het
Gss	A	G	2: 155,406,749 (GRCm39)	L342P	probably damaging	Het
Ighv1-67	T	A	12: 115,567,595 (GRCm39)	T106S	probably damaging	Het
Kif21b	T	C	1: 136,081,955 (GRCm39)	Y668H	possibly damaging	Het
Lcmt1	A	G	7: 123,020,809 (GRCm39)	R245G	possibly damaging	Het
Lpar6	A	G	14: 73,476,716 (GRCm39)	K226E	probably damaging	Het
Or11h23	T	C	14: 50,947,973 (GRCm39)	F62S	probably damaging	Het
Pcdh19	TGTCTCCTCCACGTC	TGTC	X: 132,582,058 (GRCm39)		probably null	Het
Pdcl	A	T	2: 37,245,702 (GRCm39)	D100E	possibly damaging	Het
Phkg1	C	A	5: 129,893,471 (GRCm39)	K326N	possibly damaging	Het
Ppp4r3c1	A	G	X: 88,976,005 (GRCm39)	M64T	possibly damaging	Het
Prss1	G	A	6: 41,440,639 (GRCm39)	W238*	probably null	Het
Rdh10	A	T	1: 16,176,329 (GRCm39)		probably null	Het
Ror1	T	C	4: 99,953,477 (GRCm39)	L21P	unknown	Het
Skint8	A	G	4: 111,807,333 (GRCm39)	I340V	probably null	Het
Spata18	T	C	5: 73,815,145 (GRCm39)	S85P	probably damaging	Het
Stard6	G	A	18: 70,609,459 (GRCm39)	V33I	probably benign	Het
Ttll3	G	T	6: 113,369,683 (GRCm39)	A76S	probably benign	Het
Ttll4	T	A	1: 74,724,517 (GRCm39)	H562Q	possibly damaging	Het
Ubn1	A	G	16: 4,873,083 (GRCm39)	H35R	possibly damaging	Het
Ubr4	A	G	4: 139,182,955 (GRCm39)		probably null	Het
Zfp456	T	C	13: 67,515,416 (GRCm39)	R97G	possibly damaging	Het

Other mutations in Gm8374

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1395:Gm8374	UTSW	14	18,537,058 (GRCm39)	missense	probably benign	0.00
R1785:Gm8374	UTSW	14	18,537,078 (GRCm39)	missense	probably damaging	1.00
R2130:Gm8374	UTSW	14	18,537,078 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCACAATACAGGCAACAG -3'
(R):5'- GCATATGTCTGACAATGGTGGTTAG -3'

Sequencing Primer
(F):5'- CAGGGTACTGGGCATAATTCCTAC -3'
(R):5'- TGTCTGACAATGGTGGTTAGGAAGAG -3'

Posted On

2015-01-23