Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02682:Gm4846'

303401

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4846

Ensembl Gene

ENSMUSG00000086056

Gene Name

predicted gene 4846

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02682

Quality Score

Status

Chromosome

Chromosomal Location

166311182-166325157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 166322195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 124 (G124V)

Ref Sequence

ENSEMBL: ENSMUSP00000123476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000143922]

AlphaFold

B2RWH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000143922
AA Change: G124V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123476
Gene: ENSMUSG00000086056
AA Change: G124V

Domain	Start	End	E-Value	Type
Pfam:FMO-like	3	534	9.2e-239	PFAM
Pfam:Pyr_redox_2	4	227	1.1e-10	PFAM
Pfam:Pyr_redox_3	7	221	1.9e-12	PFAM
Pfam:NAD_binding_8	8	92	4.2e-7	PFAM
Pfam:K_oxygenase	77	333	3.4e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	A	G	2: 58,367,823 (GRCm39)	S113P	probably benign	Het
Arhgdib	A	T	6: 136,901,166 (GRCm39)	W188R	probably damaging	Het
Bcr	T	A	10: 75,001,878 (GRCm39)	N927K	possibly damaging	Het
Cd209c	A	G	8: 3,990,324 (GRCm39)	Y165H	probably damaging	Het
Cnnm2	A	G	19: 46,750,515 (GRCm39)	K102E	probably benign	Het
Col12a1	T	C	9: 79,606,623 (GRCm39)	E600G	probably damaging	Het
Ddx4	A	T	13: 112,758,720 (GRCm39)	H280Q	probably benign	Het
Eya4	T	C	10: 22,992,498 (GRCm39)	Y462C	probably damaging	Het
Fibcd1	T	A	2: 31,728,576 (GRCm39)	I94F	probably damaging	Het
Gm5624	A	G	14: 44,797,469 (GRCm39)	I108T	possibly damaging	Het
Gpr179	A	T	11: 97,242,691 (GRCm39)	M51K	probably benign	Het
Hck	A	G	2: 152,976,054 (GRCm39)	I198V	probably damaging	Het
Kcnd2	T	A	6: 21,216,924 (GRCm39)	C209*	probably null	Het
Klhl1	T	A	14: 96,438,778 (GRCm39)	I507F	possibly damaging	Het
Knl1	A	T	2: 118,908,450 (GRCm39)	K1693N	possibly damaging	Het
Mcam	T	C	9: 44,051,714 (GRCm39)	V490A	possibly damaging	Het
Mrgprx1	A	T	7: 47,671,740 (GRCm39)	D2E	probably damaging	Het
Mtg1	T	C	7: 139,724,642 (GRCm39)		probably benign	Het
Myof	C	A	19: 37,909,929 (GRCm39)	R1512L	probably benign	Het
Nrp2	C	T	1: 62,810,996 (GRCm39)	T679I	probably benign	Het
Nwd2	C	A	5: 63,962,020 (GRCm39)	L535I	probably benign	Het
Nwd2	T	A	5: 63,962,021 (GRCm39)	L535H	probably damaging	Het
Or4f14b	T	A	2: 111,775,285 (GRCm39)	N172I	probably damaging	Het
Or52j3	A	T	7: 102,836,221 (GRCm39)	I138F	probably damaging	Het
Or5b94	T	C	19: 12,652,033 (GRCm39)	S155P	probably damaging	Het
Phkb	A	G	8: 86,602,275 (GRCm39)	*41W	probably null	Het
Prl5a1	T	A	13: 28,329,403 (GRCm39)	N27K	probably benign	Het
Rims1	T	C	1: 22,358,708 (GRCm39)	T1292A	probably damaging	Het
Rnf38	G	A	4: 44,133,745 (GRCm39)	A376V	probably damaging	Het
Slc34a2	T	C	5: 53,216,580 (GRCm39)	V117A	possibly damaging	Het
Slfn8	A	T	11: 82,894,517 (GRCm39)	F707L	probably damaging	Het
Snx16	G	A	3: 10,503,235 (GRCm39)	P4L	probably damaging	Het
Snx6	T	C	12: 54,801,130 (GRCm39)	D289G	probably damaging	Het
St8sia3	G	T	18: 64,402,750 (GRCm39)	V130F	probably damaging	Het
U2surp	A	G	9: 95,363,704 (GRCm39)		probably null	Het
Ubqln3	A	G	7: 103,791,272 (GRCm39)	F273L	probably benign	Het
Vmn2r101	A	T	17: 19,832,507 (GRCm39)	R834S	possibly damaging	Het
Vmn2r18	G	T	5: 151,508,102 (GRCm39)	H341N	probably damaging	Het
Vrk3	A	G	7: 44,403,244 (GRCm39)	I2V	probably benign	Het
Zglp1	A	G	9: 20,977,534 (GRCm39)	S94P	probably benign	Het

Other mutations in Gm4846

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02975:Gm4846	APN	1	166,311,449 (GRCm39)	missense	possibly damaging	0.46
R0504:Gm4846	UTSW	1	166,319,114 (GRCm39)	missense	probably benign	0.04
R0989:Gm4846	UTSW	1	166,314,689 (GRCm39)	missense	possibly damaging	0.81
R1836:Gm4846	UTSW	1	166,311,492 (GRCm39)	missense	probably benign	0.17
R1965:Gm4846	UTSW	1	166,314,533 (GRCm39)	missense	possibly damaging	0.93
R3120:Gm4846	UTSW	1	166,319,117 (GRCm39)	missense	probably benign	0.11
R4013:Gm4846	UTSW	1	166,322,249 (GRCm39)	splice site	probably null
R4617:Gm4846	UTSW	1	166,323,550 (GRCm39)	missense	probably damaging	1.00
R4641:Gm4846	UTSW	1	166,311,462 (GRCm39)	missense	probably damaging	0.99
R4825:Gm4846	UTSW	1	166,319,237 (GRCm39)	missense	probably damaging	1.00
R4952:Gm4846	UTSW	1	166,311,503 (GRCm39)	missense	probably damaging	0.97
R5135:Gm4846	UTSW	1	166,311,551 (GRCm39)	missense	probably damaging	1.00
R5230:Gm4846	UTSW	1	166,317,748 (GRCm39)	missense	probably benign	0.26
R5335:Gm4846	UTSW	1	166,325,022 (GRCm39)	nonsense	probably null
R5711:Gm4846	UTSW	1	166,311,594 (GRCm39)	missense	probably benign	0.12
R5957:Gm4846	UTSW	1	166,314,522 (GRCm39)	missense	probably benign
R6024:Gm4846	UTSW	1	166,317,696 (GRCm39)	missense	probably benign	0.00
R6460:Gm4846	UTSW	1	166,325,082 (GRCm39)	missense	probably benign	0.00
R6764:Gm4846	UTSW	1	166,319,121 (GRCm39)	missense	probably benign
R6833:Gm4846	UTSW	1	166,322,147 (GRCm39)	missense	possibly damaging	0.63
R6834:Gm4846	UTSW	1	166,322,147 (GRCm39)	missense	possibly damaging	0.63
R7161:Gm4846	UTSW	1	166,314,579 (GRCm39)	missense	probably damaging	1.00
R7275:Gm4846	UTSW	1	166,314,648 (GRCm39)	missense	probably benign	0.01
R7622:Gm4846	UTSW	1	166,323,441 (GRCm39)	missense	possibly damaging	0.64
R7890:Gm4846	UTSW	1	166,322,228 (GRCm39)	missense	probably benign
R8072:Gm4846	UTSW	1	166,322,241 (GRCm39)	missense	probably benign	0.06
R8558:Gm4846	UTSW	1	166,314,674 (GRCm39)	missense	probably damaging	1.00
R9213:Gm4846	UTSW	1	166,322,142 (GRCm39)	missense	probably damaging	1.00
R9221:Gm4846	UTSW	1	166,324,959 (GRCm39)	missense	probably benign	0.02
R9251:Gm4846	UTSW	1	166,311,307 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16