Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02371:Cyct'

290934

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyct

Ensembl Gene

ENSMUSG00000056436

Gene Name

cytochrome c, testis

Synonyms

T-Cc

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

IGL02371

Quality Score

Status

Chromosome

Chromosomal Location

76184286-76190794 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 76184434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 106 (*106R)

Ref Sequence

ENSEMBL: ENSMUSP00000028430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028430]

AlphaFold

P00015

PDB Structure

Crystal Structure of Mouse Testicular Cytochrome C at 1.6 Angstrom [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000028430
AA Change: *106R

SMART Domains

Protein: ENSMUSP00000028430
Gene: ENSMUSG00000056436
AA Change: *106R

Domain	Start	End	E-Value	Type
Pfam:Cytochrom_C	4	103	3.4e-15	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null mutation exhibit reduced sperm counts, impaired fertilization and testicular atrophy due to a dysfunction of oxidative phosphorylation in the spermatocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	T	C	10: 18,522,287 (GRCm39)	T580A	probably benign	Het
Casp2	T	A	6: 42,244,902 (GRCm39)	D100E	probably benign	Het
Cd1d1	C	A	3: 86,906,188 (GRCm39)	R29L	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Enam	A	G	5: 88,650,668 (GRCm39)	I726V	probably benign	Het
Epha3	T	G	16: 63,405,383 (GRCm39)		probably null	Het
Erbb4	T	C	1: 68,329,453 (GRCm39)	D632G	probably benign	Het
Fam217a	T	C	13: 35,095,384 (GRCm39)	N125S	possibly damaging	Het
Fbxo32	A	T	15: 58,044,860 (GRCm39)		probably benign	Het
Foxa1	T	C	12: 57,589,486 (GRCm39)	T245A	probably damaging	Het
Gars1	T	C	6: 55,042,452 (GRCm39)	V395A	probably benign	Het
Gimap5	A	T	6: 48,729,937 (GRCm39)	N169I	probably damaging	Het
Itgav	A	G	2: 83,600,397 (GRCm39)	M266V	probably damaging	Het
Klhl14	G	A	18: 21,785,238 (GRCm39)	S63F	probably damaging	Het
Lpp	G	A	16: 24,580,361 (GRCm39)	A26T	probably damaging	Het
Lrrc17	T	C	5: 21,765,994 (GRCm39)	Y159H	probably damaging	Het
Lzts1	A	T	8: 69,591,450 (GRCm39)	S233T	probably damaging	Het
Mdn1	T	C	4: 32,676,860 (GRCm39)		probably benign	Het
Nrf1	A	T	6: 30,118,990 (GRCm39)	I382F	possibly damaging	Het
Or11i1	A	T	3: 106,729,362 (GRCm39)	F171Y	probably damaging	Het
Or1m1	G	T	9: 18,666,000 (GRCm39)	S310R	probably benign	Het
Or4k41	A	G	2: 111,280,354 (GRCm39)	R290G	probably damaging	Het
Pde9a	T	A	17: 31,639,259 (GRCm39)	V63D	possibly damaging	Het
Plcg1	T	A	2: 160,595,427 (GRCm39)	N484K	probably damaging	Het
Plekhg4	T	A	8: 106,105,691 (GRCm39)		probably null	Het
Pot1b	A	G	17: 56,002,092 (GRCm39)	Y161H	possibly damaging	Het
Ptchd4	G	A	17: 42,627,865 (GRCm39)	G109S	possibly damaging	Het
Rad51ap1	T	C	6: 126,904,527 (GRCm39)	N119S	probably benign	Het
Rbm22	C	T	18: 60,705,028 (GRCm39)		probably benign	Het
Stk36	T	A	1: 74,661,414 (GRCm39)	S480R	probably benign	Het
Ugt2b5	A	T	5: 87,275,535 (GRCm39)		probably null	Het

Other mutations in Cyct

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3829:Cyct	UTSW	2	76,184,512 (GRCm39)	missense	probably damaging	0.96
R4191:Cyct	UTSW	2	76,184,535 (GRCm39)	missense	probably damaging	1.00
R5587:Cyct	UTSW	2	76,184,547 (GRCm39)	missense	probably damaging	0.99
R9307:Cyct	UTSW	2	76,184,457 (GRCm39)	missense	probably benign	0.26
R9673:Cyct	UTSW	2	76,184,523 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16