Mutagenetix > Incidental Mutation

Incidental Mutation 'R6777:Gm49359'

531345

Institutional Source

Beutler Lab

Gene Symbol

Gm49359

Ensembl Gene

ENSMUSG00000113450

Gene Name

predicted gene, 49359

Synonyms

MMRRC Submission

044893-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R6777 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62601529-62706325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62603006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 65 (C65S)

Ref Sequence

ENSEMBL: ENSMUSP00000152662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076195] [ENSMUST00000221747] [ENSMUST00000223247]

AlphaFold

Q14DI0

Predicted Effect

silent
Transcript: ENSMUST00000076195

SMART Domains

Protein: ENSMUSP00000075552
Gene: ENSMUSG00000055228

Domain	Start	End	E-Value	Type
KRAB	4	66	8.26e-16	SMART
ZnF_C2H2	133	155	2.09e-3	SMART
ZnF_C2H2	161	183	1.4e-4	SMART
ZnF_C2H2	189	211	2.57e-3	SMART
ZnF_C2H2	217	239	5.5e-3	SMART
ZnF_C2H2	245	267	7.26e-3	SMART
ZnF_C2H2	273	295	1.4e-4	SMART
ZnF_C2H2	301	323	8.6e-5	SMART
ZnF_C2H2	329	351	1.2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221747
AA Change: C65S

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

silent
Transcript: ENSMUST00000223247

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	T	7: 12,246,756 (GRCm39)	L45F	probably benign	Het
Adam7	T	C	14: 68,762,784 (GRCm39)	Y147C	probably damaging	Het
Adss2	A	T	1: 177,603,902 (GRCm39)		probably null	Het
Atp2c1	T	A	9: 105,295,799 (GRCm39)	I812L	possibly damaging	Het
Capn2	A	G	1: 182,297,742 (GRCm39)		probably null	Het
Crybg3	A	G	16: 59,378,678 (GRCm39)		probably benign	Het
Cux1	C	G	5: 136,594,422 (GRCm39)		probably benign	Het
Dkk2	T	A	3: 131,879,572 (GRCm39)	C84S	probably damaging	Het
Eml3	T	C	19: 8,914,086 (GRCm39)	V128A	probably benign	Het
Fzr1	A	G	10: 81,206,327 (GRCm39)	Y148H	probably damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Ganc	A	G	2: 120,274,630 (GRCm39)	T584A	probably damaging	Het
Gldc	T	C	19: 30,110,912 (GRCm39)	T564A	probably damaging	Het
Hspa12a	A	G	19: 58,810,519 (GRCm39)	Y175H	probably benign	Het
Ly6g	A	G	15: 75,030,431 (GRCm39)	D60G	probably benign	Het
Or11j4	A	T	14: 50,631,115 (GRCm39)	M301L	probably damaging	Het
Pex1	T	A	5: 3,672,358 (GRCm39)	C694S	probably benign	Het
Pkd1l3	T	C	8: 110,353,446 (GRCm39)	F676L	probably benign	Het
Pla2g2c	T	C	4: 138,470,976 (GRCm39)	V119A	probably benign	Het
Ralgps2	A	G	1: 156,715,515 (GRCm39)		probably null	Het
Rbp3	C	A	14: 33,676,230 (GRCm39)	H59Q	probably benign	Het
Serpina3c	T	C	12: 104,118,069 (GRCm39)	K90E	probably benign	Het
Slc24a3	A	G	2: 145,482,202 (GRCm39)	Y620C	probably damaging	Het
Smg1	C	A	7: 117,788,340 (GRCm39)		probably benign	Het
Srp68	A	T	11: 116,153,730 (GRCm39)	V198E	probably damaging	Het
Ssx2ip	C	T	3: 146,144,476 (GRCm39)	T580M	possibly damaging	Het
Terf2	A	G	8: 107,797,169 (GRCm39)	V434A	possibly damaging	Het
Tmem242	G	A	17: 5,483,830 (GRCm39)	P71S	probably damaging	Het
Tmprss13	C	T	9: 45,247,399 (GRCm39)	R254*	probably null	Het
Trgv3	A	G	13: 19,427,450 (GRCm39)	Y111C	probably damaging	Het

Other mutations in Gm49359

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6777_Gm49359_345	UTSW	13	62,603,006 (GRCm39)	missense	probably benign	0.15
R7695:Gm49359	UTSW	13	62,604,558 (GRCm39)	missense	possibly damaging	0.85
R8723:Gm49359	UTSW	13	62,602,410 (GRCm39)	missense	probably damaging	1.00
R8758:Gm49359	UTSW	13	62,602,150 (GRCm39)	missense	possibly damaging	0.80
R9090:Gm49359	UTSW	13	62,602,867 (GRCm39)	missense	probably benign	0.13
R9271:Gm49359	UTSW	13	62,602,867 (GRCm39)	missense	probably benign	0.13
R9329:Gm49359	UTSW	13	62,602,448 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TATTGGGAAAAGGCTTTATCACACTG -3'
(R):5'- GTCCCGAGTTCAAATCTCAGCA -3'

Sequencing Primer
(F):5'- ACATTCATAGGGTTTCTGTCCAG -3'
(R):5'- GAGTTCAAATCTCAGCAACCACATGG -3'

Posted On

2018-08-29