Mutagenetix > Incidental Mutation

Incidental Mutation 'R4295:Gm4841'

323287

Institutional Source

Beutler Lab

Gene Symbol

Gm4841

Ensembl Gene

ENSMUSG00000068606

Gene Name

predicted gene 4841

Synonyms

MMRRC Submission

041084-MU

Accession Numbers

Essential gene?

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

Stock #

R4295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60401373-60406339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60403262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 277 (N277S)

Ref Sequence

ENSEMBL: ENSMUSP00000087727 (fasta)

Gene Model

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

AlphaFold

E9QAA8

Predicted Effect

probably benign
Transcript: ENSMUST00000090260
AA Change: N277S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000087727
Gene: ENSMUSG00000068606
AA Change: N277S

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,606,249 (GRCm39)	S164P	probably benign	Het
4933427D06Rik	A	G	6: 89,084,883 (GRCm39)		noncoding transcript	Het
Aldh1l2	C	T	10: 83,331,784 (GRCm39)	V674M	possibly damaging	Het
Angel1	A	G	12: 86,767,057 (GRCm39)	Y440H	probably damaging	Het
Atr	A	G	9: 95,756,479 (GRCm39)	I870V	probably benign	Het
Cd200r4	T	C	16: 44,653,239 (GRCm39)	V3A	probably damaging	Het
Celf2	T	C	2: 6,608,875 (GRCm39)	N302S	probably benign	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Dnah17	A	T	11: 118,009,598 (GRCm39)	I363N	probably damaging	Het
Fam98a	A	T	17: 75,848,342 (GRCm39)	M124K	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Foxj3	G	T	4: 119,483,494 (GRCm39)	G555*	probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lamb2	A	G	9: 108,363,410 (GRCm39)	D863G	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lcn11	G	A	2: 25,668,111 (GRCm39)	A90T	possibly damaging	Het
Or14c46	A	T	7: 85,918,968 (GRCm39)	F10I	probably damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or5m3	T	C	2: 85,838,614 (GRCm39)	Y165H	probably benign	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Or9a4	T	A	6: 40,549,090 (GRCm39)	F257I	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Pcgf2	A	T	11: 97,584,282 (GRCm39)	Y24*	probably null	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Pigf	A	G	17: 87,331,184 (GRCm39)	I46T	probably benign	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Prdm10	A	G	9: 31,227,590 (GRCm39)	E65G	possibly damaging	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tjp1	T	C	7: 64,972,898 (GRCm39)	D514G	probably damaging	Het
Ttll11	TCGCCGCCGCCGCCGCCGCCGC	TCGCCGCCGCCGCCGCCGC	2: 35,869,564 (GRCm39)		probably benign	Het
Unc13c	A	G	9: 73,641,786 (GRCm39)	S1236P	probably damaging	Het
Utp20	G	T	10: 88,590,381 (GRCm39)	D2364E	possibly damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn1r76	T	C	7: 11,665,057 (GRCm39)	I52M	probably benign	Het
Xndc1	T	A	7: 101,730,694 (GRCm39)	L288M	possibly damaging	Het
Zfp451	A	T	1: 33,816,836 (GRCm39)	F154L	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
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
R5273:Gm4841	UTSW	18	60,403,815 (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

PCR Primer
(F):5'- CAGTTCAACAGGCACTTGGG -3'
(R):5'- TCAGGTCCGAAATTCCTATCTG -3'

Sequencing Primer
(F):5'- TGGGCATCCTTAGCCATGAAC -3'
(R):5'- CAGGTCCGAAATTCCTATCTGGATAC -3'

Posted On

2015-06-20