Mutagenetix > Incidental Mutation

Incidental Mutation 'R4195:Gm6569'

368352

Institutional Source

Beutler Lab

Gene Symbol

Gm6569

Ensembl Gene

ENSMUSG00000086361

Gene Name

predicted gene 6569

Synonyms

MMRRC Submission

041026-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4195 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

73834561-73839908 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73836243 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 22 (P22L)

Ref Sequence

ENSEMBL: ENSMUSP00000121081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071419] [ENSMUST00000154520]

AlphaFold

D3YTM9

Predicted Effect

probably benign
Transcript: ENSMUST00000071419

SMART Domains

Protein: ENSMUSP00000071366
Gene: ENSMUSG00000072487

Domain	Start	End	E-Value	Type
low complexity region	173	184	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136698

Predicted Effect

probably damaging
Transcript: ENSMUST00000154520
AA Change: P22L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121081
Gene: ENSMUSG00000086361
AA Change: P22L

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
low complexity region	75	87	N/A	INTRINSIC
low complexity region	104	119	N/A	INTRINSIC
low complexity region	123	137	N/A	INTRINSIC
low complexity region	140	166	N/A	INTRINSIC

Meta Mutation Damage Score

0.1091

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
Gm281	C	A	14: 13,829,772	V657L	probably benign	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 Gm6569

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6225:Gm6569	UTSW	15	73839791	unclassified	probably benign
R8534:Gm6569	UTSW	15	73839824	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCGGATTGATCTGAGTCAAG -3'
(R):5'- CAGAAGAAAGACTGGTGTCCTC -3'

Sequencing Primer
(F):5'- AAGGTACCTTCGGACTCTCATGAG -3'
(R):5'- GAAAGACTGGTGTCCTCCACTAC -3'

Posted On

2016-01-29