Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00919:Rtl8c'

29578

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rtl8c

Ensembl Gene

ENSMUSG00000051851

Gene Name

retrotransposon Gag like 8C

Synonyms

Cxx1c, Mart8a, Mar8.1, 2900027G03Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00919

Quality Score

Status

Chromosome

Chromosomal Location

52609999-52610399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52610187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 59 (T59A)

Ref Sequence

ENSEMBL: ENSMUSP00000069901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063384] [ENSMUST00000123034]

AlphaFold

Q9D6I0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063384
AA Change: T59A

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000123034

SMART Domains

Protein: ENSMUSP00000121594
Gene: ENSMUSG00000079593

Domain	Start	End	E-Value	Type
Pfam:S1-like	17	65	3.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169626
AA Change: T59A

PolyPhen 2 Score 0.210 (Sensitivity: 0.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef1	A	G	1: 10,243,462 (GRCm39)	V1029A	probably damaging	Het
Arhgap9	T	C	10: 127,163,762 (GRCm39)		probably benign	Het
Ccdc63	T	C	5: 122,262,982 (GRCm39)		probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Ctps1	A	G	4: 120,424,545 (GRCm39)	V23A	probably benign	Het
Ehd4	T	C	2: 119,927,535 (GRCm39)	E333G	possibly damaging	Het
Espl1	T	C	15: 102,207,064 (GRCm39)	V176A	probably benign	Het
Fbxo41	A	G	6: 85,455,552 (GRCm39)	I544T	probably damaging	Het
Fut9	A	G	4: 25,620,316 (GRCm39)	V166A	possibly damaging	Het
Kirrel3	A	G	9: 34,926,549 (GRCm39)		probably null	Het
Nell2	T	A	15: 95,281,608 (GRCm39)	D366V	possibly damaging	Het
Neurod4	A	T	10: 130,106,683 (GRCm39)	I197N	probably damaging	Het
Nlrp9c	A	T	7: 26,093,481 (GRCm39)	Y61*	probably null	Het
Or4c121	T	G	2: 89,023,848 (GRCm39)	M177L	probably benign	Het
Pcdh1	T	A	18: 38,335,865 (GRCm39)	K118*	probably null	Het
Phf12	T	A	11: 77,874,166 (GRCm39)	I10N	probably damaging	Het
Ptprc	A	T	1: 138,041,380 (GRCm39)	C250S	probably damaging	Het
Serpine1	A	G	5: 137,092,376 (GRCm39)	I377T	probably benign	Het
Shank2	A	T	7: 143,965,008 (GRCm39)	D865V	probably damaging	Het
Ski	A	T	4: 155,306,799 (GRCm39)	V60E	possibly damaging	Het
St7l	T	A	3: 104,833,782 (GRCm39)	L481H	probably damaging	Het
Tmpo	A	G	10: 90,998,662 (GRCm39)	I375T	probably damaging	Het
Ubr5	T	C	15: 38,041,086 (GRCm39)	D266G	probably damaging	Het

Posted On

2013-04-17