Mutagenetix > Incidental Mutation

Incidental Mutation 'R2241:Cyb5b'

240662

Institutional Source

Beutler Lab

Gene Symbol

Cyb5b

Ensembl Gene

ENSMUSG00000031924

Gene Name

cytochrome b5 type B

Synonyms

1810044O22Rik

MMRRC Submission

040241-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R2241 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107877293-107914102 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107897045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 105 (D105G)

Ref Sequence

ENSEMBL: ENSMUSP00000034400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034400]

AlphaFold

Q9CQX2

Predicted Effect

probably benign
Transcript: ENSMUST00000034400
AA Change: D105G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034400
Gene: ENSMUSG00000031924
AA Change: D105G

Domain	Start	End	E-Value	Type
Cyt-b5	23	96	4.35e-29	SMART
transmembrane domain	119	141	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212920

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	G	T	15: 64,571,230 (GRCm39)	L1138I	possibly damaging	Het
Aftph	T	C	11: 20,676,328 (GRCm39)	D427G	possibly damaging	Het
Cep350	C	T	1: 155,834,302 (GRCm39)		probably null	Het
Clca4b	A	T	3: 144,616,987 (GRCm39)	S888T	probably benign	Het
Ddx20	A	C	3: 105,590,521 (GRCm39)	Y258*	probably null	Het
Farp2	C	T	1: 93,507,625 (GRCm39)	T441I	probably benign	Het
Fzd6	G	T	15: 38,894,931 (GRCm39)	A366S	probably damaging	Het
Gpr149	A	G	3: 62,511,474 (GRCm39)	V175A	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itga4	T	A	2: 79,131,357 (GRCm39)	I575N	probably damaging	Het
Kcnj14	C	T	7: 45,469,325 (GRCm39)	R60H	probably benign	Het
Lrch3	A	G	16: 32,816,211 (GRCm39)	T151A	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mterf2	T	C	10: 84,956,180 (GRCm39)	N148S	possibly damaging	Het
Nae1	A	C	8: 105,246,420 (GRCm39)	D268E	probably benign	Het
Or5p5	T	C	7: 107,414,040 (GRCm39)	V83A	possibly damaging	Het
Or6c211	G	A	10: 129,505,764 (GRCm39)	T208I	probably damaging	Het
Or8b48	A	G	9: 38,493,101 (GRCm39)	H176R	probably damaging	Het
Pcnx4	T	C	12: 72,620,928 (GRCm39)	L916P	probably damaging	Het
Prune2	T	A	19: 17,100,456 (GRCm39)	Y1987N	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,631,737 (GRCm39)	L2096P	probably damaging	Het
Serpina3m	G	A	12: 104,355,708 (GRCm39)	S125N	probably benign	Het
Tep1	G	C	14: 51,091,667 (GRCm39)	R625G	probably benign	Het
Vmn2r102	T	C	17: 19,897,003 (GRCm39)	Y117H	probably benign	Het
Wdfy4	A	T	14: 32,795,468 (GRCm39)	N2091K	possibly damaging	Het
Yme1l1	C	T	2: 23,086,912 (GRCm39)	R673*	probably null	Het

Other mutations in Cyb5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00677:Cyb5b	APN	8	107,897,048 (GRCm39)	missense	probably benign
R1812:Cyb5b	UTSW	8	107,897,020 (GRCm39)	frame shift	probably null
R7427:Cyb5b	UTSW	8	107,897,048 (GRCm39)	missense	probably benign
R7428:Cyb5b	UTSW	8	107,897,048 (GRCm39)	missense	probably benign
R7560:Cyb5b	UTSW	8	107,896,491 (GRCm39)	missense	probably damaging	0.98
R8350:Cyb5b	UTSW	8	107,896,552 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCCTTTGGGCTTAGCATTCTAATAG -3'
(R):5'- CTATCCTGGAACTTACCCTGTAGAC -3'

Sequencing Primer
(F):5'- CTAATAGGGGATCCTGATGTGCTAAC -3'
(R):5'- TGGCCTCAAACTCAGAGATCTG -3'

Posted On

2014-10-15