Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02668:Cyb561d2'

302806

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyb561d2

Ensembl Gene

ENSMUSG00000037190

Gene Name

cytochrome b-561 domain containing 2

Synonyms

101F6 protein, Tsp10

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02668

Quality Score

Status

Chromosome

Chromosomal Location

107416210-107419392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107417371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 127 (A127T)

Ref Sequence

ENSEMBL: ENSMUSP00000141723 (fasta)

Gene Model

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

probably benign
Transcript: ENSMUST00000041459
AA Change: A127T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000044093
Gene: ENSMUSG00000037190
AA Change: A127T

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

probably benign
Transcript: ENSMUST00000194344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194848

Predicted Effect

probably benign
Transcript: ENSMUST00000195235
AA Change: A127T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141723
Gene: ENSMUSG00000037190
AA Change: A127T

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: ENSMUST00000194906

Predicted Effect

probably benign
Transcript: ENSMUST00000194967

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	G	14: 35,532,074 (GRCm39)	M167T	probably benign	Het
Abcc4	G	T	14: 118,848,887 (GRCm39)	S488R	probably damaging	Het
Adprm	G	T	11: 66,931,073 (GRCm39)	D230E	possibly damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bltp3a	A	C	17: 28,105,549 (GRCm39)	I692L	possibly damaging	Het
Ccdc66	T	C	14: 27,219,298 (GRCm39)	K309E	possibly damaging	Het
Dctn1	T	A	6: 83,168,030 (GRCm39)	M357K	possibly damaging	Het
Diras2	T	C	13: 52,661,806 (GRCm39)	N167S	probably benign	Het
Dmgdh	T	G	13: 93,840,418 (GRCm39)	V283G	probably damaging	Het
Dmxl2	A	T	9: 54,324,229 (GRCm39)	W1052R	probably damaging	Het
Dnah6	A	T	6: 73,098,806 (GRCm39)	V2083D	possibly damaging	Het
Dnai7	G	T	6: 145,150,983 (GRCm39)	R30S	unknown	Het
Exoc4	T	G	6: 33,898,467 (GRCm39)	F895L	probably benign	Het
Fsip1	G	T	2: 118,082,206 (GRCm39)	A76E	probably benign	Het
Fsip2	A	G	2: 82,828,662 (GRCm39)	I6820V	probably benign	Het
Hdac10	G	A	15: 89,009,847 (GRCm39)	P395L	probably benign	Het
Ing3	A	G	6: 21,950,058 (GRCm39)	D17G	probably damaging	Het
Map3k4	A	T	17: 12,454,840 (GRCm39)	F1383L	possibly damaging	Het
Myct1	C	A	10: 5,554,513 (GRCm39)	P127T	probably damaging	Het
Or52s1	A	T	7: 102,861,942 (GRCm39)	I281F	possibly damaging	Het
Osbpl7	G	T	11: 96,958,031 (GRCm39)	A625S	possibly damaging	Het
Padi2	C	T	4: 140,677,191 (GRCm39)	R660C	probably benign	Het
Paip1	A	T	13: 119,574,607 (GRCm39)	I185F	probably damaging	Het
Pals2	C	T	6: 50,171,509 (GRCm39)	T386I	probably damaging	Het
Phykpl	G	A	11: 51,484,514 (GRCm39)		probably null	Het
Plekhg6	G	A	6: 125,349,766 (GRCm39)		probably benign	Het
Plxna1	A	T	6: 89,334,251 (GRCm39)	L126*	probably null	Het
Rchy1	A	T	5: 92,110,577 (GRCm39)	M1K	probably null	Het
Rfx3	T	C	19: 27,793,014 (GRCm39)		probably benign	Het
Sdr9c7	T	C	10: 127,738,267 (GRCm39)	F182L	probably damaging	Het
Sgpl1	A	C	10: 60,941,229 (GRCm39)	V294G	probably damaging	Het
Sh2b1	A	G	7: 126,071,646 (GRCm39)	S180P	possibly damaging	Het
Sorbs1	T	C	19: 40,303,125 (GRCm39)	D488G	probably damaging	Het
Stab2	A	G	10: 86,682,027 (GRCm39)		probably benign	Het
Sycp1	A	C	3: 102,727,847 (GRCm39)		probably benign	Het
Tmem245	T	C	4: 56,925,081 (GRCm39)	K347E	possibly damaging	Het
Tnk1	A	G	11: 69,747,749 (GRCm39)	M51T	probably damaging	Het
Trpm2	C	T	10: 77,771,776 (GRCm39)	R621H	probably damaging	Het
Ubd	G	T	17: 37,506,420 (GRCm39)	R102L	probably benign	Het
Vmn2r103	G	T	17: 20,014,389 (GRCm39)	A394S	probably benign	Het
Zfp324	T	A	7: 12,704,773 (GRCm39)	C321S	probably damaging	Het
Zfp488	G	T	14: 33,692,777 (GRCm39)	Q129K	probably benign	Het
Zmpste24	T	A	4: 120,918,297 (GRCm39)	N442Y	probably damaging	Het

Other mutations in Cyb561d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Cyb561d2	APN	9	107,417,488 (GRCm39)	critical splice donor site	probably null
IGL01890:Cyb561d2	APN	9	107,418,722 (GRCm39)	missense	probably damaging	0.98
R1434:Cyb561d2	UTSW	9	107,418,842 (GRCm39)	unclassified	probably benign
R1937:Cyb561d2	UTSW	9	107,417,515 (GRCm39)	missense	probably damaging	1.00
R3416:Cyb561d2	UTSW	9	107,417,325 (GRCm39)	missense	probably damaging	1.00
R4995:Cyb561d2	UTSW	9	107,418,747 (GRCm39)	missense	probably damaging	1.00
R6538:Cyb561d2	UTSW	9	107,417,216 (GRCm39)	missense	possibly damaging	0.86
R7564:Cyb561d2	UTSW	9	107,418,218 (GRCm39)	missense	probably benign	0.02
R7719:Cyb561d2	UTSW	9	107,417,383 (GRCm39)	missense	probably benign
R8117:Cyb561d2	UTSW	9	107,418,771 (GRCm39)	missense	probably benign	0.43
R8773:Cyb561d2	UTSW	9	107,417,583 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyb561d2	UTSW	9	107,417,495 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16