Mutagenetix > Incidental Mutation

Incidental Mutation 'R1145:Gm11143'

165066

Institutional Source

Beutler Lab

Gene Symbol

Gm11143

Ensembl Gene

ENSMUSG00000079542

Gene Name

predicted gene 11143

Synonyms

MMRRC Submission

039218-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1145 (G1)

Quality Score

122

Status

Not validated

Chromosome

Chromosomal Location

(GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 69594392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 60 (V60G)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000114209
AA Change: V60G

SMART Domains

Protein: ENSMUSP00000109847
Gene: ENSMUSG00000079542
AA Change: V60G

Domain	Start	End	E-Value	Type
PDB:3NFS\|L	1	52	2e-11	PDB
SCOP:d1nfdb1	1	65	3e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196495

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.8%
20x: 88.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,488,639 (GRCm39)	S1257P	possibly damaging	Het
AC159637.1	C	T	12: 93,895,054 (GRCm39)		noncoding transcript	Het
Agk	T	C	6: 40,329,372 (GRCm39)		probably benign	Het
Arhgef5	C	A	6: 43,250,022 (GRCm39)	Q258K	possibly damaging	Het
C1s1	C	A	6: 124,517,759 (GRCm39)	D74Y	probably damaging	Het
Cpxm2	A	G	7: 131,659,377 (GRCm39)	S497P	probably damaging	Het
Ctsj	C	T	13: 61,150,357 (GRCm39)	S214N	probably damaging	Het
Dnali1	T	C	4: 124,959,340 (GRCm39)	S18G	possibly damaging	Het
Eif4g3	C	T	4: 137,893,129 (GRCm39)	T959M	probably damaging	Het
Eml6	A	G	11: 29,727,430 (GRCm39)	F1231L	probably benign	Het
Glp1r	T	C	17: 31,138,406 (GRCm39)	V160A	probably benign	Het
Hmcn1	A	T	1: 150,555,358 (GRCm39)		probably null	Het
Inpp5k	T	C	11: 75,524,285 (GRCm39)		probably benign	Het
Krtdap	A	T	7: 30,488,975 (GRCm39)		probably benign	Het
Ldb2	A	G	5: 44,690,016 (GRCm39)	L201P	probably damaging	Het
Loxl4	A	T	19: 42,596,994 (GRCm39)		probably benign	Het
Odad2	G	T	18: 7,268,436 (GRCm39)	P361Q	probably damaging	Het
Otud6b	T	A	4: 14,812,532 (GRCm39)	T272S	probably benign	Het
Pnpla2	T	C	7: 141,035,329 (GRCm39)	Y44H	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Sel1l3	C	T	5: 53,289,169 (GRCm39)	R884H	probably damaging	Het
Slc43a2	T	A	11: 75,457,815 (GRCm39)	Y363*	probably null	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tap2	C	A	17: 34,434,914 (GRCm39)	D652E	possibly damaging	Het
Unc80	T	C	1: 66,511,247 (GRCm39)	V85A	probably damaging	Het
Vwa3a	T	C	7: 120,392,566 (GRCm39)	Y802H	probably damaging	Het
Zc3h4	G	A	7: 16,150,838 (GRCm39)	R60Q	possibly damaging	Het
Zfp385a	A	T	15: 103,226,370 (GRCm39)		probably benign	Het

Predicted Primers

PCR Primer
(F):5'- TGGCATCAAGGTGACCTAATCCCC -3'
(R):5'- CCTCTTCAGCCTGGACATCACAATC -3'

Sequencing Primer
(F):5'- GACCTAATCCCCATCCTATTCAACTG -3'
(R):5'- GCCTGGACATCACAATCTCATATTC -3'

Posted On

2014-03-28