Mutagenetix > Incidental Mutation

Incidental Mutation 'R3817:Cyb561a3'

274760

Institutional Source

Beutler Lab

Gene Symbol

Cyb561a3

Ensembl Gene

ENSMUSG00000034445

Gene Name

cytochrome b561 family, member A3

Synonyms

2310004G04Rik, Cybasc3

MMRRC Submission

040771-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10554536-10573325 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10559728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 18 (S18P)

Ref Sequence

ENSEMBL: ENSMUSP00000130680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168445]

AlphaFold

Q6P1H1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168445
AA Change: S18P

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130680
Gene: ENSMUSG00000034445
AA Change: S18P

Domain	Start	End	E-Value	Type
B561	46	175	1.47e-40	SMART
low complexity region	205	219	N/A	INTRINSIC

Meta Mutation Damage Score

0.6008

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appbp2	G	T	11: 85,088,934 (GRCm39)	P369T	probably damaging	Het
Atp1b1	C	T	1: 164,270,874 (GRCm39)	R35H	probably benign	Het
B3galt2	G	T	1: 143,522,811 (GRCm39)	G316C	probably damaging	Het
Chd9	T	C	8: 91,710,893 (GRCm39)		probably benign	Het
Clec4a4	A	C	6: 122,967,366 (GRCm39)	N14T	probably damaging	Het
Crb1	T	A	1: 139,175,835 (GRCm39)	Q716L	probably benign	Het
Cts7	T	C	13: 61,504,350 (GRCm39)	N71S	probably damaging	Het
Cyp2c67	A	T	19: 39,627,127 (GRCm39)	F234L	probably benign	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Exph5	C	T	9: 53,286,794 (GRCm39)	Q1292*	probably null	Het
Gjb2	A	G	14: 57,337,530 (GRCm39)	V226A	probably benign	Het
Hivep2	T	C	10: 14,019,685 (GRCm39)	V2152A	possibly damaging	Het
Lig3	G	A	11: 82,686,941 (GRCm39)	V695M	possibly damaging	Het
Lrp1b	T	C	2: 40,766,670 (GRCm39)	E2735G	probably damaging	Het
Lrrtm4	A	G	6: 79,999,044 (GRCm39)	E152G	probably benign	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Nav2	A	G	7: 49,114,310 (GRCm39)	T765A	probably benign	Het
Or5p59	A	G	7: 107,702,705 (GRCm39)	Y63C	possibly damaging	Het
Or8b12c	C	T	9: 37,715,465 (GRCm39)	S86L	probably benign	Het
Or8b40	A	T	9: 38,027,922 (GRCm39)	T277S	possibly damaging	Het
Or8b55	A	G	9: 38,727,722 (GRCm39)	K308E	possibly damaging	Het
Or8g52	A	G	9: 39,631,404 (GRCm39)	N294D	possibly damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Ppp2r5c	T	C	12: 110,510,621 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Slc27a1	T	C	8: 72,037,122 (GRCm39)	V422A	probably damaging	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Tns3	G	C	11: 8,384,619 (GRCm39)	R1400G	probably damaging	Het
Vmn2r19	A	T	6: 123,286,601 (GRCm39)	Y78F	probably damaging	Het
Wdr37	A	G	13: 8,903,632 (GRCm39)		probably benign	Het
Zfp672	G	T	11: 58,207,462 (GRCm39)	H286Q	possibly damaging	Het

Other mutations in Cyb561a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Cyb561a3	APN	19	10,562,610 (GRCm39)	missense	probably damaging	1.00
IGL01418:Cyb561a3	APN	19	10,562,610 (GRCm39)	missense	probably damaging	1.00
IGL03193:Cyb561a3	APN	19	10,559,764 (GRCm39)	missense	probably benign
R0562:Cyb561a3	UTSW	19	10,564,074 (GRCm39)	missense	probably benign
R1829:Cyb561a3	UTSW	19	10,559,757 (GRCm39)	nonsense	probably null
R2327:Cyb561a3	UTSW	19	10,564,166 (GRCm39)	missense	probably benign	0.01
R3874:Cyb561a3	UTSW	19	10,562,735 (GRCm39)	missense	probably benign	0.06
R5260:Cyb561a3	UTSW	19	10,565,230 (GRCm39)	missense	possibly damaging	0.94
R6009:Cyb561a3	UTSW	19	10,564,172 (GRCm39)	missense	possibly damaging	0.93
R6861:Cyb561a3	UTSW	19	10,562,701 (GRCm39)	missense	probably damaging	1.00
R7329:Cyb561a3	UTSW	19	10,565,268 (GRCm39)	missense	probably damaging	1.00
R7436:Cyb561a3	UTSW	19	10,559,696 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCTTACCTCAGCAGTGAG -3'
(R):5'- AAACTCAACCCTCTTGGAGAG -3'

Sequencing Primer
(F):5'- TCAGCAGTGAGGCCATCTG -3'
(R):5'- CTCTTGGAGAGGGTGAGCGC -3'

Posted On

2015-04-02