Mutagenetix > Incidental Mutation

Incidental Mutation 'R5957:Gm4846'

471213

Institutional Source

Beutler Lab

Gene Symbol

Gm4846

Ensembl Gene

ENSMUSG00000086056

Gene Name

predicted gene 4846

Synonyms

MMRRC Submission

043246-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

166483613-166497588 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166486953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 374 (I374V)

Ref Sequence

ENSEMBL: ENSMUSP00000123476 (fasta)

Gene Model

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

AlphaFold

B2RWH8

Predicted Effect

probably benign
Transcript: ENSMUST00000143922
AA Change: I374V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123476
Gene: ENSMUSG00000086056
AA Change: I374V

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

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,070,161	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,773,427	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,570,537	Y286*	probably null	Het
Armc4	T	C	18: 7,285,706	E219G	probably benign	Het
Arpp21	T	C	9: 112,185,686	T17A	probably benign	Het
Atp5s	T	C	12: 69,743,784	V185A	probably benign	Het
Bnip2	T	C	9: 69,999,238	I147T	probably damaging	Het
Ccr8	T	C	9: 120,093,827	Y3H	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Cul7	G	A	17: 46,657,757	G553S	probably damaging	Het
Cyp21a1	A	G	17: 34,803,176	I206T	probably benign	Het
Dennd4b	A	G	3: 90,270,965	D488G	probably damaging	Het
Dip2b	T	C	15: 100,209,694	L1195P	probably benign	Het
Dock5	T	A	14: 67,857,994	H77L	probably benign	Het
Fbxw13	C	T	9: 109,192,666		probably null	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Gbf1	G	T	19: 46,246,221		probably null	Het
Gm12794	T	C	4: 101,941,701	F290L	probably benign	Het
Gsk3b	C	A	16: 38,193,953	P258T	probably damaging	Het
Igsf5	T	C	16: 96,364,049	V8A	probably benign	Het
Il22	T	A	10: 118,205,166	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,725,534	*517Q	probably null	Het
Iqca	T	A	1: 90,080,948	D450V	probably damaging	Het
Itga5	T	C	15: 103,351,429	D647G	probably benign	Het
Myh7	T	G	14: 54,989,078	N408T	probably damaging	Het
Mylk3	T	C	8: 85,328,637	M564V	probably damaging	Het
Nsd2	T	A	5: 33,855,603	M407K	probably damaging	Het
Oprd1	C	T	4: 132,144,163	V75I	probably benign	Het
Poli	G	A	18: 70,517,440	H310Y	probably benign	Het
Ptch1	C	T	13: 63,525,115	R755H	probably damaging	Het
Pygl	A	T	12: 70,199,720	M351K	probably damaging	Het
Serpinb9b	T	C	13: 33,039,848	L341P	possibly damaging	Het
Slc47a1	A	G	11: 61,344,342	V555A	probably benign	Het
Slc8a2	C	A	7: 16,145,284	T565K	possibly damaging	Het
Snx14	T	C	9: 88,403,274	I446V	possibly damaging	Het
Syde1	T	C	10: 78,590,117	Y72C	probably damaging	Het
Trim37	C	T	11: 87,145,551	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,814,962	S530R	probably benign	Het
Vps13c	T	C	9: 67,954,971	S2957P	probably damaging	Het
Wdr41	T	C	13: 94,997,187		probably null	Het
Zyg11b	T	C	4: 108,245,013	K504E	probably damaging	Het

Other mutations in Gm4846

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02682:Gm4846	APN	1	166494626	missense	probably damaging	1.00
IGL02975:Gm4846	APN	1	166483880	missense	possibly damaging	0.46
R0504:Gm4846	UTSW	1	166491545	missense	probably benign	0.04
R0989:Gm4846	UTSW	1	166487120	missense	possibly damaging	0.81
R1836:Gm4846	UTSW	1	166483923	missense	probably benign	0.17
R1965:Gm4846	UTSW	1	166486964	missense	possibly damaging	0.93
R3120:Gm4846	UTSW	1	166491548	missense	probably benign	0.11
R4013:Gm4846	UTSW	1	166494680	splice site	probably null
R4617:Gm4846	UTSW	1	166495981	missense	probably damaging	1.00
R4641:Gm4846	UTSW	1	166483893	missense	probably damaging	0.99
R4825:Gm4846	UTSW	1	166491668	missense	probably damaging	1.00
R4952:Gm4846	UTSW	1	166483934	missense	probably damaging	0.97
R5135:Gm4846	UTSW	1	166483982	missense	probably damaging	1.00
R5230:Gm4846	UTSW	1	166490179	missense	probably benign	0.26
R5335:Gm4846	UTSW	1	166497453	nonsense	probably null
R5711:Gm4846	UTSW	1	166484025	missense	probably benign	0.12
R6024:Gm4846	UTSW	1	166490127	missense	probably benign	0.00
R6460:Gm4846	UTSW	1	166497513	missense	probably benign	0.00
R6764:Gm4846	UTSW	1	166491552	missense	probably benign
R6833:Gm4846	UTSW	1	166494578	missense	possibly damaging	0.63
R6834:Gm4846	UTSW	1	166494578	missense	possibly damaging	0.63
R7161:Gm4846	UTSW	1	166487010	missense	probably damaging	1.00
R7275:Gm4846	UTSW	1	166487079	missense	probably benign	0.01
R7622:Gm4846	UTSW	1	166495872	missense	possibly damaging	0.64
R7890:Gm4846	UTSW	1	166494659	missense	probably benign
R8072:Gm4846	UTSW	1	166494672	missense	probably benign	0.06
R8558:Gm4846	UTSW	1	166487105	missense	probably damaging	1.00
R9213:Gm4846	UTSW	1	166494573	missense	probably damaging	1.00
R9221:Gm4846	UTSW	1	166497390	missense	probably benign	0.02
R9251:Gm4846	UTSW	1	166483738	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGCTACACCTCTGCCTTAGC -3'
(R):5'- CATTTCCGGAAGAGTGCTGGTG -3'

Sequencing Primer
(F):5'- GCCTTAGCAGAATAGGTAACATTAG -3'
(R):5'- ACGTCCGCCATCTTTGAGGATG -3'

Posted On

2017-03-31