Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01890:Cyb561d2'

179239

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyb561d2

Ensembl Gene

ENSMUSG00000037190

Gene Name

cytochrome b-561 domain containing 2

Synonyms

Tsp10, 101F6 protein

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01890

Quality Score

Status

Chromosome

Chromosomal Location

107539007-107542193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107541523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 34 (V34A)

Ref Sequence

ENSEMBL: ENSMUSP00000142243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010189] [ENSMUST00000010201] [ENSMUST00000041459] [ENSMUST00000194967] [ENSMUST00000195235] [ENSMUST00000195370]

AlphaFold

Q9WUE3

Predicted Effect

probably benign
Transcript: ENSMUST00000010189

SMART Domains

Protein: ENSMUSP00000010189
Gene: ENSMUSG00000010045

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
DUF1751	49	151	4.14e-41	SMART
transmembrane domain	164	183	N/A	INTRINSIC
transmembrane domain	190	208	N/A	INTRINSIC
transmembrane domain	223	245	N/A	INTRINSIC
Blast:DUF1751	304	347	2e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000010201

SMART Domains

Protein: ENSMUSP00000010201
Gene: ENSMUSG00000010057

Domain	Start	End	E-Value	Type
Pfam:NPR2	5	279	1.7e-75	PFAM
Pfam:NPR2	269	373	1.1e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041459
AA Change: V34A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044093
Gene: ENSMUSG00000037190
AA Change: V34A

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
B561	47	178	8.01e-42	SMART
transmembrane domain	189	211	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193628

Predicted Effect

unknown
Transcript: ENSMUST00000194344
AA Change: V1A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194906

Predicted Effect

probably damaging
Transcript: ENSMUST00000194967
AA Change: V34A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195235
AA Change: V34A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141723
Gene: ENSMUSG00000037190
AA Change: V34A

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
B561	47	178	8.01e-42	SMART
transmembrane domain	189	211	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195370

SMART Domains

Protein: ENSMUSP00000141746
Gene: ENSMUSG00000010057

Domain	Start	End	E-Value	Type
Pfam:NPR2	2	156	1.2e-52	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	T	12: 80,184,868	V265E	probably damaging	Het
Anks1b	A	G	10: 90,644,527	I865V	probably benign	Het
Car5a	G	A	8: 121,923,610	A182V	probably benign	Het
Ccdc47	A	G	11: 106,205,451	V249A	probably damaging	Het
Dmbt1	A	G	7: 131,074,419		probably benign	Het
Entpd6	G	A	2: 150,770,692	D445N	possibly damaging	Het
Fastkd2	A	G	1: 63,732,161	I225M	probably benign	Het
Flcn	A	G	11: 59,795,170	V424A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gpn3	A	G	5: 122,381,265	M176V	probably benign	Het
Igkv12-38	C	T	6: 69,943,405	C43Y	probably damaging	Het
Oas1h	A	G	5: 120,862,789		probably null	Het
Rexo1	A	T	10: 80,543,011	Y1064N	possibly damaging	Het
Skint1	G	A	4: 112,010,681	G2R	probably damaging	Het
Slc4a9	G	A	18: 36,529,707	A172T	possibly damaging	Het
Synpo2	A	G	3: 123,112,497	S727P	probably damaging	Het
Tmem131	A	T	1: 36,823,156		probably benign	Het
Trpm3	G	T	19: 22,711,719	R4L	probably damaging	Het
Upf1	A	T	8: 70,334,230	V879E	possibly damaging	Het
Vmn1r194	A	T	13: 22,244,606	Y131F	probably benign	Het
Vmn2r95	T	A	17: 18,451,475	N491K	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Cyb561d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Cyb561d2	APN	9	107540289	critical splice donor site	probably null
IGL02668:Cyb561d2	APN	9	107540172	missense	probably benign	0.00
R1434:Cyb561d2	UTSW	9	107541643	unclassified	probably benign
R1937:Cyb561d2	UTSW	9	107540316	missense	probably damaging	1.00
R3416:Cyb561d2	UTSW	9	107540126	missense	probably damaging	1.00
R4995:Cyb561d2	UTSW	9	107541548	missense	probably damaging	1.00
R6538:Cyb561d2	UTSW	9	107540017	missense	possibly damaging	0.86
R7564:Cyb561d2	UTSW	9	107541019	missense	probably benign	0.02
R7719:Cyb561d2	UTSW	9	107540184	missense	probably benign
R8117:Cyb561d2	UTSW	9	107541572	missense	probably benign	0.43
R8773:Cyb561d2	UTSW	9	107540384	missense	probably damaging	1.00
Z1176:Cyb561d2	UTSW	9	107540296	missense	probably damaging	1.00

Posted On

2014-05-07