Mutagenetix > Incidental Mutation

Incidental Mutation 'R9479:Cyb5d2'

716136

Institutional Source

Beutler Lab

Gene Symbol

Cyb5d2

Ensembl Gene

ENSMUSG00000057778

Gene Name

cytochrome b5 domain containing 2

Synonyms

9330151E16Rik, neuferricin

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9479 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72668058-72686665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72669702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 219 (C219R)

Ref Sequence

ENSEMBL: ENSMUSP00000078623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079681] [ENSMUST00000156294]

AlphaFold

Q5SSH8

Predicted Effect

SMART Domains

Protein: ENSMUSP00000078623
Gene: ENSMUSG00000057778
AA Change: C219R

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Cyt-b5	38	134	5.75e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000156294
AA Change: C66R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	A	G	1: 58,177,568 (GRCm39)	Y261C	probably benign	Het
Arhgef10	T	C	8: 15,047,632 (GRCm39)	V1165A	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Bhmt2	G	A	13: 93,799,833 (GRCm39)	A201V	probably damaging	Het
Ccdc115	A	T	1: 34,476,895 (GRCm39)	S115T	possibly damaging	Het
Clca4b	A	G	3: 144,617,100 (GRCm39)	V850A	probably benign	Het
Commd8	A	T	5: 72,318,350 (GRCm39)	H144Q	probably benign	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Csnka2ip	T	C	16: 64,298,262 (GRCm39)	K701E	unknown	Het
Ep400	T	C	5: 110,877,730 (GRCm39)	T835A	unknown	Het
Fam169a	A	G	13: 97,246,543 (GRCm39)	Y228C	possibly damaging	Het
Fam169a	A	G	13: 97,250,695 (GRCm39)	D342G	possibly damaging	Het
Fbxw21	A	T	9: 108,968,612 (GRCm39)	C455S	probably benign	Het
Fbxw26	A	G	9: 109,561,625 (GRCm39)	S190P	probably damaging	Het
Gabra5	A	G	7: 57,058,440 (GRCm39)	I436T		Het
Gm9767	G	A	10: 25,954,916 (GRCm39)	G156D		Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gsn	T	C	2: 35,186,227 (GRCm39)		probably null	Het
Hao1	A	G	2: 134,396,204 (GRCm39)	S17P	probably benign	Het
Hspa1l	A	G	17: 35,196,735 (GRCm39)	N258S	probably benign	Het
Isyna1	C	T	8: 71,048,193 (GRCm39)	R200C	probably damaging	Het
Itgb2	A	T	10: 77,396,942 (GRCm39)	K659M	probably benign	Het
Klf11	T	C	12: 24,705,029 (GRCm39)	M161T	probably benign	Het
Ktn1	A	T	14: 47,962,174 (GRCm39)	K1114N	probably damaging	Het
Lonrf1	G	A	8: 36,697,668 (GRCm39)	R439*	probably null	Het
Lrrc26	C	T	2: 25,180,571 (GRCm39)	P191S	probably benign	Het
Ogdh	T	C	11: 6,297,854 (GRCm39)	I576T	possibly damaging	Het
Or10al4	T	C	17: 38,036,986 (GRCm39)	S24P	probably damaging	Het
Or14c45	T	C	7: 86,176,285 (GRCm39)	C107R	possibly damaging	Het
Or14j4	A	G	17: 37,920,718 (GRCm39)	F308S	probably damaging	Het
Or4k40	A	T	2: 111,251,013 (GRCm39)	F94L	probably damaging	Het
Or4p20	T	C	2: 88,253,677 (GRCm39)	R231G	probably damaging	Het
Or7g20	G	A	9: 18,946,730 (GRCm39)	V104I	probably benign	Het
Pcnt	A	G	10: 76,217,963 (GRCm39)	V2104A	probably benign	Het
Pds5a	G	A	5: 65,792,747 (GRCm39)	R729W	probably damaging	Het
Pgap1	G	A	1: 54,582,275 (GRCm39)	Q191*	probably null	Het
Pglyrp3	A	G	3: 91,935,310 (GRCm39)	I187V	probably benign	Het
Pkdrej	T	A	15: 85,699,571 (GRCm39)	I2122F	possibly damaging	Het
Pold1	G	A	7: 44,191,079 (GRCm39)	R251W	probably damaging	Het
Prr22	A	G	17: 57,078,335 (GRCm39)	M163V	probably benign	Het
Ptprc	A	T	1: 138,001,388 (GRCm39)	N814K	probably benign	Het
Rapgef2	G	A	3: 79,019,495 (GRCm39)	L59F	probably damaging	Het
Rbm22	T	C	18: 60,699,492 (GRCm39)	L147P	probably damaging	Het
Rgsl1	G	A	1: 153,657,445 (GRCm39)	S391F	unknown	Het
Rnf13	A	T	3: 57,727,983 (GRCm39)	D221V	possibly damaging	Het
Senp2	T	A	16: 21,842,398 (GRCm39)	L154Q	probably damaging	Het
Srfbp1	A	G	18: 52,621,332 (GRCm39)	Q131R	possibly damaging	Het
Tmprss11a	A	T	5: 86,562,402 (GRCm39)	Y314*	probably null	Het
Ttn	G	T	2: 76,666,286 (GRCm39)	P11590Q	unknown	Het
Txnrd3	C	T	6: 89,640,084 (GRCm39)	T266M	possibly damaging	Het
Zfp810	T	C	9: 22,194,497 (GRCm39)	S64G	possibly damaging	Het

Other mutations in Cyb5d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3831:Cyb5d2	UTSW	11	72,686,349 (GRCm39)	missense	possibly damaging	0.82
R3832:Cyb5d2	UTSW	11	72,686,349 (GRCm39)	missense	possibly damaging	0.82
R3833:Cyb5d2	UTSW	11	72,686,349 (GRCm39)	missense	possibly damaging	0.82
R4063:Cyb5d2	UTSW	11	72,686,606 (GRCm39)	unclassified	probably benign
R4661:Cyb5d2	UTSW	11	72,669,771 (GRCm39)	missense	probably damaging	1.00
R5045:Cyb5d2	UTSW	11	72,686,401 (GRCm39)	missense	probably damaging	1.00
R5835:Cyb5d2	UTSW	11	72,680,036 (GRCm39)	missense	probably damaging	1.00
R6453:Cyb5d2	UTSW	11	72,673,586 (GRCm39)	missense	probably benign	0.29
R7743:Cyb5d2	UTSW	11	72,669,702 (GRCm39)	missense	probably damaging	1.00
R8297:Cyb5d2	UTSW	11	72,679,929 (GRCm39)	missense	probably damaging	1.00
R8325:Cyb5d2	UTSW	11	72,669,651 (GRCm39)	missense	possibly damaging	0.89
R8406:Cyb5d2	UTSW	11	72,679,959 (GRCm39)	missense	probably benign	0.38
R8774:Cyb5d2	UTSW	11	72,679,901 (GRCm39)	critical splice donor site	probably null
R8774-TAIL:Cyb5d2	UTSW	11	72,679,901 (GRCm39)	critical splice donor site	probably null
R8797:Cyb5d2	UTSW	11	72,669,662 (GRCm39)	missense	probably benign	0.01
R9057:Cyb5d2	UTSW	11	72,679,924 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TGCTAGGGCACAAGATCGAG -3'
(R):5'- GAAGTGGAATAAAGGGCTTTTCC -3'

Sequencing Primer
(F):5'- CACAAGATCGAGGGCTTTCTG -3'
(R):5'- AAGGGCTTTTCCTTTTATAACTCC -3'

Posted On

2022-07-18