Mutagenetix > Incidental Mutation

Incidental Mutation 'R9057:Cyb5d2'

688760

Institutional Source

Beutler Lab

Gene Symbol

Cyb5d2

Ensembl Gene

ENSMUSG00000057778

Gene Name

cytochrome b5 domain containing 2

Synonyms

9330151E16Rik, neuferricin

MMRRC Submission

068883-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9057 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72668058-72686665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72679924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 124 (E124K)

Ref Sequence

ENSEMBL: ENSMUSP00000078623 (fasta)

Gene Model

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

AlphaFold

Q5SSH8

Predicted Effect

probably benign
Transcript: ENSMUST00000079681
AA Change: E124K

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

SMART Domains

Protein: ENSMUSP00000078623
Gene: ENSMUSG00000057778
AA Change: E124K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156294

Meta Mutation Damage Score

0.1032

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,524,782 (GRCm39)		probably benign	Het
Abca2	G	A	2: 25,331,584 (GRCm39)	D1324N	probably benign	Het
Acat1	C	T	9: 53,503,300 (GRCm39)	G180R	probably damaging	Het
AI837181	A	C	19: 5,476,730 (GRCm39)	T298P	probably damaging	Het
Alms1	T	A	6: 85,586,814 (GRCm39)	D556E	unknown	Het
Ankle1	T	A	8: 71,858,961 (GRCm39)	W65R	probably benign	Het
Ano5	A	G	7: 51,203,654 (GRCm39)	N234S	probably benign	Het
Asb7	T	A	7: 66,309,395 (GRCm39)		probably benign	Het
Atad2b	T	A	12: 5,068,102 (GRCm39)	C1033*	probably null	Het
B4galnt1	A	G	10: 127,006,999 (GRCm39)	D452G	probably damaging	Het
B4gat1	G	T	19: 5,089,056 (GRCm39)	A18S	possibly damaging	Het
Bard1	A	G	1: 71,069,807 (GRCm39)	Y724H	probably damaging	Het
Bcl9	A	T	3: 97,112,306 (GRCm39)	M1383K	possibly damaging	Het
Cenpt	C	A	8: 106,576,405 (GRCm39)	*43L	probably null	Het
Ces2f	C	A	8: 105,674,744 (GRCm39)	H49N	probably benign	Het
Col17a1	A	T	19: 47,637,522 (GRCm39)	D1245E	probably damaging	Het
Col19a1	G	T	1: 24,549,962 (GRCm39)	H312N	unknown	Het
Dnah5	C	T	15: 28,391,014 (GRCm39)	A3291V	probably damaging	Het
Exo5	A	T	4: 120,779,186 (GRCm39)	D226E	probably damaging	Het
Ggt6	C	T	11: 72,328,067 (GRCm39)	T189M	probably damaging	Het
Gm5592	C	A	7: 40,938,887 (GRCm39)	S723Y	possibly damaging	Het
Golga3	C	T	5: 110,332,465 (GRCm39)	T133M	probably damaging	Het
Heatr5a	C	T	12: 51,986,420 (GRCm39)	E598K	probably damaging	Het
Hfe	T	A	13: 23,889,658 (GRCm39)	I330F	possibly damaging	Het
Htt	A	G	5: 35,009,454 (GRCm39)	I1478M	possibly damaging	Het
Igf1r	T	C	7: 67,833,186 (GRCm39)	F449L	probably damaging	Het
Ints4	T	C	7: 97,158,987 (GRCm39)	V453A	possibly damaging	Het
Ints6	A	G	14: 62,951,740 (GRCm39)		probably null	Het
Klrh1	T	A	6: 129,752,803 (GRCm39)	M1L	probably benign	Het
Kpna4	G	A	3: 69,002,018 (GRCm39)	T248M	probably damaging	Het
Lactb	T	C	9: 66,874,977 (GRCm39)	I372V	possibly damaging	Het
Mib1	T	A	18: 10,795,728 (GRCm39)	D696E	possibly damaging	Het
Mpzl3	G	A	9: 44,979,592 (GRCm39)	R181Q	probably damaging	Het
Mup12	A	T	4: 60,696,779 (GRCm39)	I33N	probably damaging	Het
Myh10	A	G	11: 68,656,011 (GRCm39)	I502V	possibly damaging	Het
Nacad	C	A	11: 6,550,876 (GRCm39)	V772F	possibly damaging	Het
Nbeal2	G	T	9: 110,456,218 (GRCm39)	T2417N	probably benign	Het
Nif3l1	A	G	1: 58,489,648 (GRCm39)	D179G	probably benign	Het
Or2ag17	A	T	7: 106,389,296 (GRCm39)	V304D	probably damaging	Het
Or6e1	T	C	14: 54,520,148 (GRCm39)	E68G	probably damaging	Het
Pan2	A	T	10: 128,156,141 (GRCm39)	H1133L	probably damaging	Het
Pgk2	A	G	17: 40,518,735 (GRCm39)	V231A	possibly damaging	Het
Psmd12	G	A	11: 107,377,328 (GRCm39)	R129Q	probably null	Het
Rpl23a	G	A	11: 78,072,021 (GRCm39)	R139C	probably benign	Het
Sars2	G	T	7: 28,446,246 (GRCm39)	Q158H		Het
Scd3	C	T	19: 44,224,340 (GRCm39)	P191L	probably damaging	Het
Serac1	C	A	17: 6,111,890 (GRCm39)	S262I	probably damaging	Het
Sh3bp1	A	G	15: 78,794,209 (GRCm39)	T526A	probably benign	Het
Slc26a3	A	T	12: 31,520,958 (GRCm39)	T721S	probably benign	Het
Slc8a1	A	C	17: 81,955,479 (GRCm39)	S520A	probably benign	Het
Sp9	A	T	2: 73,103,613 (GRCm39)	S56C	probably damaging	Het
Spire2	T	A	8: 124,095,547 (GRCm39)		probably benign	Het
Syne2	T	G	12: 75,937,167 (GRCm39)	L255R	probably damaging	Het
Tcp11l1	A	G	2: 104,528,026 (GRCm39)	I156T	probably damaging	Het
Tnrc6b	G	A	15: 80,763,349 (GRCm39)	A284T	probably benign	Het
Trappc14	A	T	5: 138,260,949 (GRCm39)	V232E	probably damaging	Het
Tsc1	T	A	2: 28,575,874 (GRCm39)	L919H	probably damaging	Het
Vps13c	T	A	9: 67,828,209 (GRCm39)	H1454Q	probably benign	Het
Vps41	T	A	13: 19,027,702 (GRCm39)	D537E	probably benign	Het
Wnt16	T	A	6: 22,288,823 (GRCm39)	C47S	probably damaging	Het
Zfhx2	C	T	14: 55,310,027 (GRCm39)	E840K	possibly damaging	Het
Zfp61	A	T	7: 23,990,702 (GRCm39)	V483E	probably benign	Het
Zfp870	A	T	17: 33,102,793 (GRCm39)	S179T	probably benign	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
R9479:Cyb5d2	UTSW	11	72,669,702 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GGTCACTCCTGCACAAAAGC -3'
(R):5'- AATTCATGTCCCCAGTCCAG -3'

Sequencing Primer
(F):5'- GTCACTCCTGCACAAAAGCAAGAAG -3'
(R):5'- TCCCTGAAAGGAGTAGGAGTTATTAG -3'

Posted On

2021-11-19