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: 0.072) question?

Stock #

R5957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

166311182-166325157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166314522 bp (GRCm39)

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: 137,775,922 (GRCm39)	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,593,790 (GRCm39)	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,558,981 (GRCm39)	Y286*	probably null	Het
Arpp21	T	C	9: 112,014,754 (GRCm39)	T17A	probably benign	Het
Bnip2	T	C	9: 69,906,520 (GRCm39)	I147T	probably damaging	Het
Ccr8	T	C	9: 119,922,893 (GRCm39)	Y3H	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Cul7	G	A	17: 46,968,683 (GRCm39)	G553S	probably damaging	Het
Cyp21a1	A	G	17: 35,022,150 (GRCm39)	I206T	probably benign	Het
Dennd4b	A	G	3: 90,178,272 (GRCm39)	D488G	probably damaging	Het
Dip2b	T	C	15: 100,107,575 (GRCm39)	L1195P	probably benign	Het
Dmac2l	T	C	12: 69,790,558 (GRCm39)	V185A	probably benign	Het
Dock5	T	A	14: 68,095,443 (GRCm39)	H77L	probably benign	Het
Fbxw13	C	T	9: 109,021,734 (GRCm39)		probably null	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Gbf1	G	T	19: 46,234,660 (GRCm39)		probably null	Het
Gsk3b	C	A	16: 38,014,315 (GRCm39)	P258T	probably damaging	Het
Igsf5	T	C	16: 96,165,249 (GRCm39)	V8A	probably benign	Het
Il22	T	A	10: 118,041,071 (GRCm39)	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,545,896 (GRCm39)	*517Q	probably null	Het
Iqca1	T	A	1: 90,008,670 (GRCm39)	D450V	probably damaging	Het
Itga5	T	C	15: 103,259,856 (GRCm39)	D647G	probably benign	Het
Myh7	T	G	14: 55,226,535 (GRCm39)	N408T	probably damaging	Het
Mylk3	T	C	8: 86,055,266 (GRCm39)	M564V	probably damaging	Het
Nsd2	T	A	5: 34,012,947 (GRCm39)	M407K	probably damaging	Het
Odad2	T	C	18: 7,285,706 (GRCm39)	E219G	probably benign	Het
Oprd1	C	T	4: 131,871,474 (GRCm39)	V75I	probably benign	Het
Poli	G	A	18: 70,650,511 (GRCm39)	H310Y	probably benign	Het
Pramel19	T	C	4: 101,798,898 (GRCm39)	F290L	probably benign	Het
Ptch1	C	T	13: 63,672,929 (GRCm39)	R755H	probably damaging	Het
Pygl	A	T	12: 70,246,494 (GRCm39)	M351K	probably damaging	Het
Serpinb9b	T	C	13: 33,223,831 (GRCm39)	L341P	possibly damaging	Het
Slc47a1	A	G	11: 61,235,168 (GRCm39)	V555A	probably benign	Het
Slc8a2	C	A	7: 15,879,209 (GRCm39)	T565K	possibly damaging	Het
Snx14	T	C	9: 88,285,327 (GRCm39)	I446V	possibly damaging	Het
Syde1	T	C	10: 78,425,951 (GRCm39)	Y72C	probably damaging	Het
Trim37	C	T	11: 87,036,377 (GRCm39)	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,464,710 (GRCm39)	S530R	probably benign	Het
Vps13c	T	C	9: 67,862,253 (GRCm39)	S2957P	probably damaging	Het
Wdr41	T	C	13: 95,133,695 (GRCm39)		probably null	Het
Zyg11b	T	C	4: 108,102,210 (GRCm39)	K504E	probably damaging	Het

Other mutations in Gm4846

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02682:Gm4846	APN	1	166,322,195 (GRCm39)	missense	probably damaging	1.00
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
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

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