Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00162:Cyb561'

1118

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyb561

Ensembl Gene

ENSMUSG00000019590

Gene Name

cytochrome b-561

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00162

Quality Score

Status

Chromosome

Chromosomal Location

105824528-105844157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105826662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 197 (H197R)

Ref Sequence

ENSEMBL: ENSMUSP00000121990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019734] [ENSMUST00000143251] [ENSMUST00000150563] [ENSMUST00000184086] [ENSMUST00000184269]

AlphaFold

Q60720

Predicted Effect

probably damaging
Transcript: ENSMUST00000019734
AA Change: H159R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019734
Gene: ENSMUSG00000019590
AA Change: H159R

Domain	Start	End	E-Value	Type
B561	51	178	5.74e-52	SMART
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000143251
AA Change: H197R

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

SMART Domains

Protein: ENSMUSP00000121990
Gene: ENSMUSG00000019590
AA Change: H197R

Domain	Start	End	E-Value	Type
B561	89	209	4.36e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146607

Predicted Effect

probably benign
Transcript: ENSMUST00000150563

SMART Domains

Protein: ENSMUSP00000138838
Gene: ENSMUSG00000019590

Domain	Start	End	E-Value	Type
Pfam:Cytochrom_B561	51	99	5.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183493

Predicted Effect

unknown
Transcript: ENSMUST00000184086
AA Change: T174A

SMART Domains

Protein: ENSMUSP00000138931
Gene: ENSMUSG00000019590
AA Change: T174A

Domain	Start	End	E-Value	Type
Pfam:Cytochrom_B561	51	178	1.3e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184269

SMART Domains

Protein: ENSMUSP00000138889
Gene: ENSMUSG00000019590

Domain	Start	End	E-Value	Type
low complexity region	16	29	N/A	INTRINSIC
Pfam:Cytochrom_B561	108	181	9.8e-28	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cc2d1b	T	G	4: 108,484,575 (GRCm39)	L470R	probably damaging	Het
Cd96	A	T	16: 45,892,162 (GRCm39)	N275K	possibly damaging	Het
Col22a1	A	G	15: 71,732,807 (GRCm39)		probably null	Het
Dlgap1	T	C	17: 70,823,080 (GRCm39)	S22P	probably benign	Het
Dnajc6	A	G	4: 101,365,286 (GRCm39)		probably benign	Het
Fgf6	A	T	6: 127,001,048 (GRCm39)	K185N	possibly damaging	Het
Fshr	T	C	17: 89,293,619 (GRCm39)	N353S	probably damaging	Het
Gabbr1	T	A	17: 37,359,335 (GRCm39)	Y103*	probably null	Het
Gm7247	G	A	14: 51,760,962 (GRCm39)	C177Y	possibly damaging	Het
Hikeshi	A	G	7: 89,584,989 (GRCm39)	F72L	probably damaging	Het
Ikzf4	T	C	10: 128,470,416 (GRCm39)	E368G	probably benign	Het
Kdm3b	A	G	18: 34,942,462 (GRCm39)	E851G	probably benign	Het
Kif3b	A	G	2: 153,159,051 (GRCm39)	D284G	probably damaging	Het
Kyat3	G	A	3: 142,440,235 (GRCm39)	A320T	probably benign	Het
Mok	C	T	12: 110,774,631 (GRCm39)		probably benign	Het
Mrgpra3	A	G	7: 47,239,267 (GRCm39)	F220L	probably benign	Het
Nr4a1	T	C	15: 101,168,780 (GRCm39)	V272A	probably damaging	Het
Or10ag58	A	G	2: 87,265,407 (GRCm39)	H192R	probably benign	Het
Or2ag19	A	G	7: 106,444,574 (GRCm39)	Y252C	possibly damaging	Het
Pikfyve	T	A	1: 65,299,280 (GRCm39)		probably null	Het
Plekhn1	T	G	4: 156,307,820 (GRCm39)	T369P	probably damaging	Het
Ptpn12	T	C	5: 21,234,848 (GRCm39)	E45G	probably damaging	Het
Ralgps1	A	T	2: 33,027,694 (GRCm39)	*516R	probably null	Het
Rps23rg1	A	G	8: 3,633,904 (GRCm39)	T2A	probably benign	Het
Senp6	A	G	9: 80,023,892 (GRCm39)	D385G	probably damaging	Het
Siglech	T	C	7: 55,422,339 (GRCm39)		probably benign	Het
Slit1	A	G	19: 41,639,274 (GRCm39)	L212P	probably damaging	Het
Smchd1	T	A	17: 71,772,668 (GRCm39)		probably benign	Het
Snapc4	A	T	2: 26,259,324 (GRCm39)	C609S	probably benign	Het
Strn3	T	C	12: 51,707,979 (GRCm39)	T139A	possibly damaging	Het
Tcaf3	T	C	6: 42,570,319 (GRCm39)	T478A	probably benign	Het
Tlr3	A	G	8: 45,853,727 (GRCm39)	S198P	probably damaging	Het
Ttn	C	T	2: 76,720,823 (GRCm39)		probably benign	Het
Vil1	G	A	1: 74,463,034 (GRCm39)	E406K	probably damaging	Het
Zfp462	A	G	4: 55,011,483 (GRCm39)		probably null	Het
Zfyve9	A	G	4: 108,499,304 (GRCm39)	V1338A	possibly damaging	Het

Other mutations in Cyb561

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3177:Cyb561	UTSW	11	105,826,613 (GRCm39)	unclassified	probably benign
R4749:Cyb561	UTSW	11	105,826,708 (GRCm39)	missense	probably benign	0.03
R5489:Cyb561	UTSW	11	105,826,349 (GRCm39)	missense	probably benign	0.00
R5496:Cyb561	UTSW	11	105,828,545 (GRCm39)	missense	probably damaging	1.00
R7135:Cyb561	UTSW	11	105,826,393 (GRCm39)	missense	probably damaging	1.00
R7570:Cyb561	UTSW	11	105,828,470 (GRCm39)	missense	probably damaging	0.98
R7787:Cyb561	UTSW	11	105,828,466 (GRCm39)	missense	probably damaging	1.00
R7836:Cyb561	UTSW	11	105,830,935 (GRCm39)	missense	probably benign	0.00

Posted On

2011-07-12