Mutagenetix > Incidental Mutation

Incidental Mutation 'R5273:Gm4841'

403792

Institutional Source

Beutler Lab

Gene Symbol

Gm4841

Ensembl Gene

ENSMUSG00000068606

Gene Name

predicted gene 4841

Synonyms

MMRRC Submission

042862-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60401373-60406339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60403815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 93 (V93I)

Ref Sequence

ENSEMBL: ENSMUSP00000087727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090260]

AlphaFold

E9QAA8

Predicted Effect

probably benign
Transcript: ENSMUST00000090260
AA Change: V93I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000087727
Gene: ENSMUSG00000068606
AA Change: V93I

Domain	Start	End	E-Value	Type
Pfam:IIGP	36	409	1.2e-129	PFAM
Pfam:MMR_HSR1	72	185	2.2e-11	PFAM
Pfam:Roc	72	188	1.9e-8	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,832,233 (GRCm39)	N799S	possibly damaging	Het
Arhgap20	A	G	9: 51,759,916 (GRCm39)	N589S	probably damaging	Het
Armc10	C	T	5: 21,858,426 (GRCm39)	A157V	possibly damaging	Het
Atp2b2	A	G	6: 113,736,193 (GRCm39)	L958P	probably damaging	Het
Bhmt2	G	A	13: 93,803,086 (GRCm39)	A149V	possibly damaging	Het
Ccdc7a	CATCAGCTGATAT	CAT	8: 129,788,090 (GRCm39)		probably null	Het
Cntnap4	A	G	8: 113,460,070 (GRCm39)	D141G	probably damaging	Het
Cplane1	T	C	15: 8,273,825 (GRCm39)	S2603P	probably damaging	Het
Cplane1	T	C	15: 8,292,422 (GRCm39)	S3012P	unknown	Het
Dis3	A	G	14: 99,336,242 (GRCm39)	V88A	probably benign	Het
Dnajc21	A	T	15: 10,454,893 (GRCm39)	C316S	probably damaging	Het
Dnhd1	A	G	7: 105,363,689 (GRCm39)	T4084A	probably damaging	Het
Dock3	A	C	9: 106,777,904 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,756,947 (GRCm39)	H1894R	probably damaging	Het
Galc	T	C	12: 98,218,330 (GRCm39)	Y174C	probably damaging	Het
Gm7995	T	C	14: 42,133,413 (GRCm39)	Y98H	probably damaging	Het
Gnrhr	T	A	5: 86,330,105 (GRCm39)	H305L	possibly damaging	Het
Gpr179	A	T	11: 97,238,256 (GRCm39)	F323I	probably damaging	Het
Kdm6b	G	T	11: 69,295,027 (GRCm39)	P1080Q	unknown	Het
Man2a1	C	T	17: 65,040,780 (GRCm39)	T126I	probably damaging	Het
Mdm4	G	A	1: 132,922,320 (GRCm39)	T274M	probably benign	Het
Mug1	T	A	6: 121,850,748 (GRCm39)	V748E	probably damaging	Het
Nav3	A	T	10: 109,528,899 (GRCm39)		probably null	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Or8d6	T	C	9: 39,853,853 (GRCm39)	V99A	probably benign	Het
Or8g36	A	G	9: 39,422,795 (GRCm39)	S74P	possibly damaging	Het
Pcdhb1	T	C	18: 37,398,766 (GRCm39)	V239A	probably benign	Het
Ppic	T	A	18: 53,542,330 (GRCm39)	H126L	probably damaging	Het
Sdk1	T	C	5: 141,984,583 (GRCm39)	F463L	probably damaging	Het
Shroom1	A	G	11: 53,354,671 (GRCm39)	E197G	possibly damaging	Het
Slc22a14	A	G	9: 118,999,704 (GRCm39)	S496P	probably benign	Het
Slc27a1	G	A	8: 72,036,900 (GRCm39)	G379S	probably benign	Het
Slco1a5	T	C	6: 142,187,824 (GRCm39)	E505G	probably benign	Het
Snrpe	A	C	1: 133,537,518 (GRCm39)		probably benign	Het
Sp100	G	T	1: 85,636,825 (GRCm39)	V299F	possibly damaging	Het
Stard9	A	G	2: 120,535,568 (GRCm39)	S3942G	possibly damaging	Het
Ttn	A	G	2: 76,644,948 (GRCm39)	V12969A	probably damaging	Het
Txndc11	T	C	16: 10,946,487 (GRCm39)	Q108R	probably benign	Het
Wnk4	A	T	11: 101,154,695 (GRCm39)	I295F	probably damaging	Het

Other mutations in Gm4841

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Gm4841	APN	18	60,403,124 (GRCm39)	missense	probably damaging	1.00
IGL02043:Gm4841	APN	18	60,404,037 (GRCm39)	missense	probably benign	0.05
IGL02751:Gm4841	APN	18	60,404,093 (GRCm39)	utr 5 prime	probably benign
R0277:Gm4841	UTSW	18	60,403,718 (GRCm39)	missense	possibly damaging	0.83
R0323:Gm4841	UTSW	18	60,403,718 (GRCm39)	missense	possibly damaging	0.83
R0616:Gm4841	UTSW	18	60,404,009 (GRCm39)	missense	probably benign	0.00
R0882:Gm4841	UTSW	18	60,402,852 (GRCm39)	missense	possibly damaging	0.92
R1778:Gm4841	UTSW	18	60,404,020 (GRCm39)	nonsense	probably null
R2035:Gm4841	UTSW	18	60,402,929 (GRCm39)	missense	probably benign	0.29
R2513:Gm4841	UTSW	18	60,403,977 (GRCm39)	missense	probably damaging	1.00
R4242:Gm4841	UTSW	18	60,403,755 (GRCm39)	missense	probably benign	0.05
R4295:Gm4841	UTSW	18	60,403,262 (GRCm39)	missense	probably benign	0.01
R4574:Gm4841	UTSW	18	60,402,998 (GRCm39)	missense	probably benign	0.02
R4720:Gm4841	UTSW	18	60,403,135 (GRCm39)	missense	probably benign	0.00
R5314:Gm4841	UTSW	18	60,403,364 (GRCm39)	missense	probably benign	0.13
R5378:Gm4841	UTSW	18	60,404,113 (GRCm39)	critical splice acceptor site	probably null
R5902:Gm4841	UTSW	18	60,403,868 (GRCm39)	missense	probably damaging	1.00
R5908:Gm4841	UTSW	18	60,403,506 (GRCm39)	missense	possibly damaging	0.89
R6361:Gm4841	UTSW	18	60,403,832 (GRCm39)	missense	probably damaging	1.00
R6677:Gm4841	UTSW	18	60,403,652 (GRCm39)	missense	probably damaging	1.00
R8155:Gm4841	UTSW	18	60,403,409 (GRCm39)	missense	probably damaging	0.97
R8334:Gm4841	UTSW	18	60,404,054 (GRCm39)	missense	probably benign	0.00
R9026:Gm4841	UTSW	18	60,403,988 (GRCm39)	missense	probably damaging	1.00
R9064:Gm4841	UTSW	18	60,403,961 (GRCm39)	missense	probably benign	0.04
R9284:Gm4841	UTSW	18	60,403,895 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-07-22