Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01099:Cyb561d2'

51916

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 #

IGL01099

Quality Score

Status

Chromosome

Chromosomal Location

107416210-107419392 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 107417488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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: V88M

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044093
Gene: ENSMUSG00000037190
AA Change: V88M

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 null
Transcript: ENSMUST00000194344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194848

Predicted Effect

probably benign
Transcript: ENSMUST00000195235
AA Change: V88M

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141723
Gene: ENSMUSG00000037190
AA Change: V88M

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,965,031 (GRCm39)		probably benign	Het
Adam28	A	G	14: 68,874,778 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,367,411 (GRCm39)	I560M	probably benign	Het
Alpl	G	A	4: 137,470,624 (GRCm39)		probably benign	Het
Ank1	G	A	8: 23,598,265 (GRCm39)	G753D	probably damaging	Het
Arhgef28	A	T	13: 98,090,480 (GRCm39)		probably benign	Het
Bmp7	A	T	2: 172,717,055 (GRCm39)	C329S	probably damaging	Het
Capn13	T	C	17: 73,658,504 (GRCm39)	D188G	probably damaging	Het
Car10	G	A	11: 93,469,516 (GRCm39)	E164K	possibly damaging	Het
Cfhr1	T	A	1: 139,475,497 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,905,690 (GRCm39)	R562*	probably null	Het
Colec12	C	T	18: 9,848,826 (GRCm39)	R335C	probably damaging	Het
Epb41l3	A	G	17: 69,517,188 (GRCm39)	D72G	possibly damaging	Het
Etl4	T	C	2: 20,811,922 (GRCm39)	L1335P	probably benign	Het
F5	T	G	1: 164,021,903 (GRCm39)	N1459K	probably damaging	Het
Fam161a	T	C	11: 22,965,894 (GRCm39)		probably benign	Het
Flnc	G	A	6: 29,433,617 (GRCm39)	V54M	probably damaging	Het
Fndc3b	T	C	3: 27,517,966 (GRCm39)	I607V	probably benign	Het
Fscb	A	G	12: 64,518,875 (GRCm39)	S864P	unknown	Het
Glod4	T	A	11: 76,130,376 (GRCm39)	K36*	probably null	Het
Gm6619	G	A	6: 131,467,393 (GRCm39)	R86Q	possibly damaging	Het
Gm7052	T	C	17: 22,258,706 (GRCm39)		probably benign	Het
Gyg1	A	T	3: 20,205,211 (GRCm39)	M119K	probably benign	Het
Ifit2	A	T	19: 34,550,702 (GRCm39)	I81F	probably damaging	Het
Insr	T	C	8: 3,308,682 (GRCm39)	Y118C	probably damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Kcnh3	T	C	15: 99,137,617 (GRCm39)	S771P	probably benign	Het
Kndc1	C	A	7: 139,500,700 (GRCm39)	H688Q	probably damaging	Het
Mybpc2	A	G	7: 44,165,591 (GRCm39)	C330R	probably damaging	Het
Naa50	A	T	16: 43,976,832 (GRCm39)	N23I	probably damaging	Het
Nt5el	A	T	13: 105,245,868 (GRCm39)	H143L	probably benign	Het
Or55b4	T	A	7: 102,133,685 (GRCm39)	D214V	probably damaging	Het
Or5a1	A	G	19: 12,097,240 (GRCm39)	S279P	probably damaging	Het
Or8b48	T	C	9: 38,493,373 (GRCm39)	S267P	probably benign	Het
Or8c16	T	C	9: 38,131,039 (GRCm39)	S307P	probably benign	Het
Pfkp	A	T	13: 6,653,426 (GRCm39)		probably benign	Het
Phlda2	G	A	7: 143,055,876 (GRCm39)		probably null	Het
Plxnd1	C	A	6: 115,946,906 (GRCm39)	V823L	probably benign	Het
Prpf40a	T	A	2: 53,031,847 (GRCm39)	H794L	probably benign	Het
Ripor2	A	T	13: 24,885,190 (GRCm39)	H436L	probably benign	Het
Rnf138	T	A	18: 21,153,970 (GRCm39)	C159S	possibly damaging	Het
Scn7a	A	T	2: 66,514,582 (GRCm39)	V1064D	probably damaging	Het
Slc12a2	T	A	18: 58,039,092 (GRCm39)	C557*	probably null	Het
Slc1a6	T	C	10: 78,624,831 (GRCm39)	S79P	possibly damaging	Het
Snapin	G	A	3: 90,397,909 (GRCm39)		probably benign	Het
Tdp1	A	T	12: 99,881,704 (GRCm39)		probably benign	Het
Tigar	G	T	6: 127,065,108 (GRCm39)	A180E	probably benign	Het
Trav6-2	A	T	14: 52,905,122 (GRCm39)	T48S	probably benign	Het
Ttn	A	G	2: 76,558,776 (GRCm39)	Y29702H	probably damaging	Het
Ush1c	A	G	7: 45,854,686 (GRCm39)	S689P	probably damaging	Het
Vmn1r40	A	T	6: 89,691,578 (GRCm39)	I132F	probably damaging	Het
Vmn1r85	T	A	7: 12,818,461 (GRCm39)	K228*	probably null	Het
Wdr33	C	A	18: 32,039,842 (GRCm39)		probably benign	Het
Ybx2	A	T	11: 69,831,556 (GRCm39)	Q136L	probably damaging	Het
Ypel1	T	A	16: 16,909,076 (GRCm39)	M368L	probably damaging	Het

Other mutations in Cyb561d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01890:Cyb561d2	APN	9	107,418,722 (GRCm39)	missense	probably damaging	0.98
IGL02668:Cyb561d2	APN	9	107,417,371 (GRCm39)	missense	probably benign	0.00
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

2013-06-21