Mutagenetix > Incidental Mutations

Incidental Mutation 'R2354:Gm6169'

246842

Institutional Source

Beutler Lab

Gene Symbol

Gm6169

Ensembl Gene

ENSMUSG00000057762

Gene Name

predicted gene 6169

Synonyms

MMRRC Submission

040336-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2354 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97098208-97099237 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97098801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 146 (T146I)

Ref Sequence

ENSEMBL: ENSMUSP00000132645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000071118] [ENSMUST00000169863]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042517

SMART Domains

Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817

Domain	Start	End	E-Value	Type
low complexity region	374	386	N/A	INTRINSIC
low complexity region	602	619	N/A	INTRINSIC
low complexity region	630	642	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000071118
AA Change: T146I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132645
Gene: ENSMUSG00000057762
AA Change: T146I

Domain	Start	End	E-Value	Type
Pfam:MARVEL	19	132	2.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169863

SMART Domains

Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817

Domain	Start	End	E-Value	Type
low complexity region	374	386	N/A	INTRINSIC
low complexity region	602	619	N/A	INTRINSIC
low complexity region	630	642	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC

Meta Mutation Damage Score

0.0770

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

97% (34/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	G	T	10: 22,067,256	T275K	probably benign	Het
Ap3b2	C	T	7: 81,473,850		probably benign	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Bpifb9b	C	T	2: 154,311,742	L243F	probably benign	Het
Cd226	A	T	18: 89,246,983		probably null	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Cep295	A	G	9: 15,334,784	I792T	possibly damaging	Het
Cfap46	T	C	7: 139,661,046	Y469C	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
D630045J12Rik	G	A	6: 38,158,091	P1385S	possibly damaging	Het
Ddb1	A	T	19: 10,606,973	M64L	probably benign	Het
Dyrk1b	G	A	7: 28,185,372	R404Q	possibly damaging	Het
Gal3st2b	A	G	1: 93,939,786	T52A	probably damaging	Het
Galk2	C	A	2: 125,931,273	S208R	probably benign	Het
Hap1	A	T	11: 100,354,715	I141N	probably damaging	Het
Hif3a	T	C	7: 17,041,105	S523G	probably damaging	Het
Kirrel	C	T	3: 87,088,485	V381I	probably damaging	Het
Lmbrd1	T	C	1: 24,685,541	S69P	probably damaging	Het
Lrriq1	C	T	10: 103,189,987	V925M	probably damaging	Het
Mmp16	A	G	4: 18,112,001	Y459C	probably damaging	Het
Mtr	A	G	13: 12,188,157		probably benign	Het
Nadk2	T	A	15: 9,085,782	I167N	probably damaging	Het
Neo1	A	G	9: 58,985,634	F242L	probably benign	Het
Pitpnm2	A	T	5: 124,122,919	V1010E	probably damaging	Het
Shox2	A	G	3: 66,981,489	I23T	possibly damaging	Het
Slc5a12	T	C	2: 110,609,432	V141A	probably damaging	Het
Sstr5	A	G	17: 25,491,901	I118T	probably benign	Het
Taar4	A	G	10: 23,961,014	N174S	probably damaging	Het
Tpcn2	C	A	7: 145,257,218	G581W	probably damaging	Het
Umod	C	T	7: 119,466,193	V538M	probably damaging	Het
Vmn2r44	T	G	7: 8,370,640	S517R	probably damaging	Het
Zc3h12d	G	T	10: 7,867,938	V491L	probably benign	Het
Zfp358	A	T	8: 3,495,454	H12L	possibly damaging	Het
Zkscan7	A	G	9: 122,894,827	D287G	probably benign	Het

Other mutations in Gm6169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02120:Gm6169	APN	13	97098777	intron	probably benign
IGL02151:Gm6169	APN	13	97099174	missense	probably null	0.00
R2101:Gm6169	UTSW	13	97099222	missense	probably damaging	0.97
R2248:Gm6169	UTSW	13	97098898	missense	possibly damaging	0.76
R5027:Gm6169	UTSW	13	97099140	missense	probably benign	0.25
R5664:Gm6169	UTSW	13	97099121	missense	probably damaging	1.00
R5931:Gm6169	UTSW	13	97099197	missense	probably benign	0.01
R8466:Gm6169	UTSW	13	97098984	missense	probably damaging	1.00
R9428:Gm6169	UTSW	13	97099216	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCTGGAGTGTTGTGGAAACC -3'
(R):5'- CAACTGGCCTTGGACTGACTTC -3'

Sequencing Primer
(F):5'- AGACAGGATCTCACTGTGTAGCC -3'
(R):5'- GACTTCTTCAGATCCCTCATAGCAAC -3'

Posted On

2014-10-30