Mutagenetix > Incidental Mutation

Incidental Mutation 'R0681:Cyb561d1'

60956

Institutional Source

Beutler Lab

Gene Symbol

Cyb561d1

Ensembl Gene

ENSMUSG00000048796

Gene Name

cytochrome b-561 domain containing 1

Synonyms

1600010M23Rik

MMRRC Submission

038866-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0681 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

108103003-108108528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108106583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 212 (V212A)

Ref Sequence

ENSEMBL: ENSMUSP00000102266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065664] [ENSMUST00000102633] [ENSMUST00000106654] [ENSMUST00000106655] [ENSMUST00000117409] [ENSMUST00000117784] [ENSMUST00000119650]

AlphaFold

A2AE42

Predicted Effect

probably benign
Transcript: ENSMUST00000065664
AA Change: V154A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000070361
Gene: ENSMUSG00000048796
AA Change: V154A

Domain	Start	End	E-Value	Type
B561	1	127	5.49e-40	SMART
transmembrane domain	138	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102633

SMART Domains

Protein: ENSMUSP00000099693
Gene: ENSMUSG00000048997

Domain	Start	End	E-Value	Type
low complexity region	55	63	N/A	INTRINSIC
Pfam:SCA7	198	265	3.9e-29	PFAM
low complexity region	333	352	N/A	INTRINSIC
low complexity region	356	363	N/A	INTRINSIC
low complexity region	435	452	N/A	INTRINSIC
low complexity region	515	532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106654
AA Change: V154A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000102265
Gene: ENSMUSG00000048796
AA Change: V154A

Domain	Start	End	E-Value	Type
B561	1	127	5.49e-40	SMART
transmembrane domain	138	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106655
AA Change: V212A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102266
Gene: ENSMUSG00000048796
AA Change: V212A

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
B561	54	185	4.96e-47	SMART
transmembrane domain	196	218	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117409

SMART Domains

Protein: ENSMUSP00000112976
Gene: ENSMUSG00000048997

Domain	Start	End	E-Value	Type
low complexity region	55	63	N/A	INTRINSIC
Pfam:SCA7	164	235	1.2e-31	PFAM
low complexity region	301	320	N/A	INTRINSIC
low complexity region	324	331	N/A	INTRINSIC
low complexity region	403	420	N/A	INTRINSIC
low complexity region	483	500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117784

SMART Domains

Protein: ENSMUSP00000114031
Gene: ENSMUSG00000048997

Domain	Start	End	E-Value	Type
low complexity region	55	63	N/A	INTRINSIC
Pfam:SCA7	196	267	1.6e-31	PFAM
low complexity region	333	352	N/A	INTRINSIC
low complexity region	356	363	N/A	INTRINSIC
low complexity region	435	452	N/A	INTRINSIC
low complexity region	515	532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119650

SMART Domains

Protein: ENSMUSP00000113020
Gene: ENSMUSG00000048997

Domain	Start	End	E-Value	Type
low complexity region	20	28	N/A	INTRINSIC
Pfam:SCA7	161	232	1.2e-31	PFAM
low complexity region	298	317	N/A	INTRINSIC
low complexity region	321	328	N/A	INTRINSIC
low complexity region	400	417	N/A	INTRINSIC
low complexity region	480	497	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141054

Meta Mutation Damage Score

0.4253

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.3%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Adgrv1	C	A	13: 81,676,649 (GRCm39)	D1341Y	probably damaging	Het
Ahdc1	T	C	4: 132,792,827 (GRCm39)	F1356S	possibly damaging	Het
Cdk13	A	G	13: 17,895,882 (GRCm39)		probably benign	Het
Cfhr1	A	T	1: 139,485,249 (GRCm39)	S66T	probably damaging	Het
Cldn6	C	A	17: 23,900,167 (GRCm39)	Q44K	probably damaging	Het
Cntnap5c	T	C	17: 58,612,550 (GRCm39)	V863A	possibly damaging	Het
Col6a4	T	A	9: 105,944,343 (GRCm39)	K1044*	probably null	Het
Cyp1b1	A	G	17: 80,021,275 (GRCm39)	S156P	probably damaging	Het
Dock7	G	A	4: 98,904,941 (GRCm39)	H645Y	probably damaging	Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Fastkd3	C	T	13: 68,740,047 (GRCm39)		probably benign	Het
Galnt10	T	A	11: 57,660,366 (GRCm39)	V268D	probably damaging	Het
Grb14	G	T	2: 64,747,631 (GRCm39)	A10E	probably damaging	Het
Grin2c	A	G	11: 115,140,479 (GRCm39)	V1213A	probably benign	Het
Grip1	C	T	10: 119,846,135 (GRCm39)	T570I	probably damaging	Het
Hif1an	T	C	19: 44,551,762 (GRCm39)	Y71H	probably benign	Het
Hsd17b11	T	A	5: 104,151,072 (GRCm39)	I221L	probably benign	Het
Htra1	A	T	7: 130,581,027 (GRCm39)		probably benign	Het
Igfn1	T	C	1: 135,891,591 (GRCm39)	E2308G	possibly damaging	Het
Mapk9	T	A	11: 49,760,072 (GRCm39)	S129T	probably damaging	Het
Med22	T	C	2: 26,800,391 (GRCm39)	T13A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mtus1	A	T	8: 41,446,554 (GRCm39)	L489Q	probably damaging	Het
Naprt	G	A	15: 75,765,481 (GRCm39)	P120S	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Ogfod2	A	G	5: 124,250,907 (GRCm39)	E62G	probably null	Het
Or13a1	A	T	6: 116,471,361 (GRCm39)	S264C	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Palm	A	C	10: 79,655,327 (GRCm39)	T362P	probably benign	Het
Pcare	T	G	17: 72,056,509 (GRCm39)	H1056P	probably benign	Het
Pcdh8	T	C	14: 80,007,400 (GRCm39)	T388A	probably benign	Het
Pclo	A	G	5: 14,725,332 (GRCm39)	I1397V	unknown	Het
Per1	A	G	11: 68,992,027 (GRCm39)	E127G	probably damaging	Het
Plekha1	T	C	7: 130,502,353 (GRCm39)	V30A	possibly damaging	Het
Pramel24	A	T	4: 143,454,622 (GRCm39)	T307S	probably benign	Het
Rab26	A	G	17: 24,746,940 (GRCm39)		probably benign	Het
Rasal2	T	C	1: 156,984,750 (GRCm39)	D999G	possibly damaging	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rrp1b	T	C	17: 32,279,369 (GRCm39)	S677P	probably damaging	Het
Scaf4	G	A	16: 90,046,582 (GRCm39)	P485S	unknown	Het
Scn5a	A	T	9: 119,368,706 (GRCm39)	M273K	probably damaging	Het
Sec22a	C	T	16: 35,181,926 (GRCm39)		probably null	Het
Slc10a6	C	A	5: 103,760,315 (GRCm39)	V227F	possibly damaging	Het
Slc39a3	C	G	10: 80,869,565 (GRCm39)	E31Q	probably benign	Het
Spsb1	C	T	4: 149,991,374 (GRCm39)	V65I	probably benign	Het
Tdrd7	T	A	4: 46,016,879 (GRCm39)	M673K	probably benign	Het
Trim8	C	A	19: 46,503,532 (GRCm39)	S361R	possibly damaging	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Vmn1r46	A	T	6: 89,953,946 (GRCm39)	D265V	probably damaging	Het
Zbtb5	T	C	4: 44,993,787 (GRCm39)	I532M	probably damaging	Het

Other mutations in Cyb561d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Cyb561d1	APN	3	108,106,943 (GRCm39)	missense	probably damaging	1.00
IGL02996:Cyb561d1	APN	3	108,106,961 (GRCm39)	missense	probably damaging	1.00
R2266:Cyb561d1	UTSW	3	108,106,720 (GRCm39)	missense	probably damaging	1.00
R4518:Cyb561d1	UTSW	3	108,106,887 (GRCm39)	missense	possibly damaging	0.95
R5657:Cyb561d1	UTSW	3	108,108,008 (GRCm39)	missense	possibly damaging	0.62
R6980:Cyb561d1	UTSW	3	108,107,475 (GRCm39)	missense	probably benign	0.02
R7171:Cyb561d1	UTSW	3	108,106,679 (GRCm39)	missense	probably damaging	1.00
R7267:Cyb561d1	UTSW	3	108,106,629 (GRCm39)	missense	probably benign
R8280:Cyb561d1	UTSW	3	108,106,713 (GRCm39)	missense	probably damaging	1.00
R8280:Cyb561d1	UTSW	3	108,106,532 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GAGCCCACTGTATCATGCCTCAAC -3'
(R):5'- AGCTGGATAGGAGCCTTGACACTG -3'

Sequencing Primer
(F):5'- TCAACAGTAGCAGCTAGGGTTTC -3'
(R):5'- CACTGGAGGACAGGCACTG -3'

Posted On

2013-07-30