Mutagenetix > Incidental Mutation

Incidental Mutation 'R4195:Gm281'

318541

Institutional Source

Beutler Lab

Gene Symbol

Gm281

Ensembl Gene

ENSMUSG00000084902

Gene Name

predicted gene 281

Synonyms

LOC238939

MMRRC Submission

041026-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R4195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13814618-13914478 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 13829772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 657 (V657L)

Ref Sequence

ENSEMBL: ENSMUSP00000121887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000144914]

AlphaFold

D3Z1Y0

Predicted Effect

probably benign
Transcript: ENSMUST00000144914
AA Change: V657L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000121887
Gene: ENSMUSG00000084902
AA Change: V657L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CA	32	127	3.45e-2	SMART
CA	156	230	7.87e-9	SMART
CA	274	352	1.36e-3	SMART
CA	376	470	6.99e-3	SMART
CA	492	563	8.69e-11	SMART
CA	589	683	2.09e-1	SMART
transmembrane domain	705	727	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	G	1: 127,749,194	L152R	probably damaging	Het
Actg2	T	G	6: 83,523,173	T39P	probably damaging	Het
Agap1	A	G	1: 89,834,539	E531G	probably damaging	Het
Alox12b	A	G	11: 69,169,600	S661G	probably benign	Het
Apod	T	C	16: 31,297,574	M113V	probably benign	Het
Atl3	A	G	19: 7,518,546	I171V	possibly damaging	Het
Atrn	C	A	2: 130,933,412	T145K	probably damaging	Het
Cacna1f	A	G	X: 7,608,930	H57R	probably damaging	Het
Cldn9	T	C	17: 23,683,174	E159G	probably damaging	Het
Cnnm4	C	A	1: 36,499,508	H590Q	probably benign	Het
Col19a1	G	A	1: 24,534,052	S213L	unknown	Het
Cse1l	A	G	2: 166,929,979	T387A	probably damaging	Het
Eif4enif1	T	C	11: 3,243,186	V675A	possibly damaging	Het
Fbll1	A	G	11: 35,797,666	S257P	possibly damaging	Het
Fbll1	T	A	11: 35,797,872	H188L	possibly damaging	Het
Frem2	A	G	3: 53,539,268	F2360L	possibly damaging	Het
G3bp2	A	G	5: 92,055,416	S349P	probably damaging	Het
Gm2396	A	G	9: 88,917,662		noncoding transcript	Het
Gm6569	C	T	15: 73,836,243	P22L	probably damaging	Het
Itih2	T	C	2: 10,115,285	N314D	probably damaging	Het
Lman2l	A	C	1: 36,424,941	I266M	probably damaging	Het
Mrps9	T	G	1: 42,901,094		probably benign	Het
Mtmr11	T	C	3: 96,167,891		probably benign	Het
Neb	G	T	2: 52,271,559	R2074S	probably damaging	Het
Neb	A	T	2: 52,290,835	H1226Q	probably damaging	Het
Nmi	A	C	2: 51,948,620	S301A	probably benign	Het
Olfr266	A	T	3: 106,822,012	C182*	probably null	Het
Pclo	A	G	5: 14,677,563		probably benign	Het
Pkd1l1	T	A	11: 8,909,929	I560F	probably damaging	Het
Polr1e	T	C	4: 45,019,327	Y59H	probably damaging	Het
Slc30a4	G	A	2: 122,685,270	T401M	probably damaging	Het
Tas1r3	T	C	4: 155,862,985	E81G	probably damaging	Het
Zfp990	A	T	4: 145,536,977		probably null	Het
Zzz3	A	G	3: 152,428,465	T387A	probably benign	Het

Other mutations in Gm281

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0115:Gm281	UTSW	14	13899571	missense	probably damaging	0.99
R0842:Gm281	UTSW	14	13856686	missense	probably benign	0.16
R1252:Gm281	UTSW	14	13862444	missense	probably benign	0.00
R1275:Gm281	UTSW	14	13896949	missense	probably damaging	1.00
R1631:Gm281	UTSW	14	13829796	missense	probably damaging	0.99
R1831:Gm281	UTSW	14	13899619	missense	probably damaging	1.00
R1885:Gm281	UTSW	14	13828607	missense	probably damaging	1.00
R1886:Gm281	UTSW	14	13828607	missense	probably damaging	1.00
R1887:Gm281	UTSW	14	13828607	missense	probably damaging	1.00
R1903:Gm281	UTSW	14	13829657	missense	possibly damaging	0.94
R1940:Gm281	UTSW	14	13828582	missense	probably null	0.95
R2324:Gm281	UTSW	14	13868077	missense	probably damaging	1.00
R3923:Gm281	UTSW	14	13865990	nonsense	probably null
R4193:Gm281	UTSW	14	13914416	missense	probably benign	0.02
R4370:Gm281	UTSW	14	13862375	missense	probably benign	0.03
R4675:Gm281	UTSW	14	13856724	missense	probably benign	0.32
R4734:Gm281	UTSW	14	13845292	missense	probably benign	0.13
R5387:Gm281	UTSW	14	13914438	start codon destroyed	probably null	0.82
R6037:Gm281	UTSW	14	13864282	missense	probably damaging	1.00
R6037:Gm281	UTSW	14	13864282	missense	probably damaging	1.00
R6177:Gm281	UTSW	14	13868002	missense	probably benign	0.08
R7051:Gm281	UTSW	14	13828486	missense
R7205:Gm281	UTSW	14	13866032	missense
R7258:Gm281	UTSW	14	13899648	missense
R7833:Gm281	UTSW	14	13896968	splice site	probably null
R8309:Gm281	UTSW	14	13814954	nonsense	probably null
R8911:Gm281	UTSW	14	13823796	critical splice acceptor site	probably null
R9124:Gm281	UTSW	14	13864354	missense
R9458:Gm281	UTSW	14	13856709	missense
R9594:Gm281	UTSW	14	13814959	missense	unknown
Z1177:Gm281	UTSW	14	13823754	missense
Z1177:Gm281	UTSW	14	13845421	missense

Predicted Primers

PCR Primer
(F):5'- ATGTGCATGTAACTTCCACTATTCCTG -3'
(R):5'- GGTATCTTGAGACCATTTGATGTATTC -3'

Sequencing Primer
(F):5'- TTGAGGTAGTGTCAAAGTCTAAAGGC -3'
(R):5'- CGGGGTTCAAATACTCCA -3'

Posted On

2015-06-10