Mutagenetix > Incidental Mutation

Incidental Mutation 'R2911:Gm379'

261281

Institutional Source

Beutler Lab

Gene Symbol

Gm379

Ensembl Gene

ENSMUSG00000093916

Gene Name

predicted gene 379

Synonyms

LOC236954

MMRRC Submission

040498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R2911 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

107707682-107708497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 107708371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 43 (F43V)

Ref Sequence

ENSEMBL: ENSMUSP00000137588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178160]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178160
AA Change: F43V

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137588
Gene: ENSMUSG00000093916
AA Change: F43V

Domain	Start	End	E-Value	Type
t_SNARE	196	263	4.61e-10	SMART
transmembrane domain	272	294	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,378,982 (GRCm39)	T645A	probably damaging	Het
Adam10	C	T	9: 70,626,005 (GRCm39)	S91L	probably damaging	Het
Ahnak	A	G	19: 8,989,018 (GRCm39)	D3434G	probably damaging	Het
Ankrd11	A	T	8: 123,635,537 (GRCm39)	D32E	probably damaging	Het
Cacna1b	A	T	2: 24,497,553 (GRCm39)		probably null	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cep104	T	A	4: 154,079,884 (GRCm39)		probably null	Het
Clstn2	A	G	9: 97,414,775 (GRCm39)	V373A	probably damaging	Het
Cyp2c65	T	G	19: 39,076,126 (GRCm39)	I359M	probably damaging	Het
Cyp4a12b	A	T	4: 115,290,723 (GRCm39)	K282*	probably null	Het
Ddx1	C	T	12: 13,281,441 (GRCm39)		probably null	Het
Dnah7a	A	T	1: 53,466,983 (GRCm39)		probably null	Het
Dzip1l	T	C	9: 99,537,655 (GRCm39)	V419A	probably benign	Het
Epha3	A	C	16: 63,472,775 (GRCm39)	V370G	probably benign	Het
Fbxo38	T	C	18: 62,652,878 (GRCm39)	D523G	probably benign	Het
Fryl	T	C	5: 73,207,799 (GRCm39)	D2457G	probably damaging	Het
Grhl3	T	C	4: 135,286,457 (GRCm39)	I75V	probably benign	Het
Lcp2	G	A	11: 34,018,970 (GRCm39)		probably null	Het
Lipo3	T	A	19: 33,556,767 (GRCm39)	I220F	probably benign	Het
Lrp1b	T	C	2: 41,396,704 (GRCm39)	E340G	probably benign	Het
Lypd8l	G	A	11: 58,499,252 (GRCm39)	Q189*	probably null	Het
Mbtps1	A	G	8: 120,272,776 (GRCm39)	I123T	possibly damaging	Het
Ndc80	A	T	17: 71,807,371 (GRCm39)	S528R	probably benign	Het
Odf2l	A	C	3: 144,830,084 (GRCm39)	I19L	probably benign	Het
Or10d3	T	C	9: 39,462,117 (GRCm39)	I17V	possibly damaging	Het
Or5h25	C	T	16: 58,930,544 (GRCm39)	R143H	probably benign	Het
Or7e177	A	G	9: 20,211,775 (GRCm39)	K94R	possibly damaging	Het
Pigr	A	G	1: 130,777,270 (GRCm39)	D692G	probably damaging	Het
Reep2	T	C	18: 34,978,743 (GRCm39)		probably null	Het
Rin3	T	G	12: 102,339,843 (GRCm39)	S598A	probably benign	Het
Rreb1	A	T	13: 38,132,896 (GRCm39)	E1690D	probably benign	Het
Rubcnl	C	T	14: 75,278,248 (GRCm39)	T344I	probably benign	Het
Shcbp1l	C	A	1: 153,304,372 (GRCm39)	L144I	probably damaging	Het
Snx2	C	T	18: 53,332,946 (GRCm39)	P207S	probably damaging	Het
Sox17	A	T	1: 4,563,354 (GRCm39)	D92E	probably damaging	Het
Spata21	A	G	4: 140,830,393 (GRCm39)	M288V	possibly damaging	Het
Sra1	T	C	18: 36,809,238 (GRCm39)	D273G	possibly damaging	Het
Syt7	T	C	19: 10,420,799 (GRCm39)	I448T	probably benign	Het
Tac1	A	G	6: 7,559,097 (GRCm39)		probably null	Het
Tgs1	C	A	4: 3,585,616 (GRCm39)	N164K	probably benign	Het
Tmem72	T	A	6: 116,675,292 (GRCm39)	I67F	possibly damaging	Het
Ythdc1	T	C	5: 86,964,418 (GRCm39)	S88P	possibly damaging	Het

Other mutations in Gm379

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1903:Gm379	UTSW	X	107,707,870 (GRCm39)	nonsense	probably null
R2910:Gm379	UTSW	X	107,708,371 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GAATGATTCGGGCTTGGCTC -3'
(R):5'- AAACTGAGCTGTCCCTGACTTC -3'

Sequencing Primer
(F):5'- TTGGCTCGCAAAGGAGGC -3'
(R):5'- GATGAATACATCTCCCTCTGTAGTC -3'

Posted On

2015-01-23