Mutagenetix > Incidental Mutation

Incidental Mutation 'R8406:Cyb5d2'

652436

Institutional Source

Beutler Lab

Gene Symbol

Cyb5d2

Ensembl Gene

ENSMUSG00000057778

Gene Name

cytochrome b5 domain containing 2

Synonyms

9330151E16Rik, neuferricin

MMRRC Submission

067765-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8406 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72668058-72686665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72679959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 112 (E112G)

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: E112G

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078623
Gene: ENSMUSG00000057778
AA Change: E112G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,977,343 (GRCm39)	F139L	probably damaging	Het
Adgrg6	A	T	10: 14,343,082 (GRCm39)	D288E	probably benign	Het
Agbl1	A	G	7: 76,068,415 (GRCm39)	E327G		Het
Aipl1	T	A	11: 71,922,332 (GRCm39)	M126L	possibly damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Arl3	A	T	19: 46,530,823 (GRCm39)	S157T	probably benign	Het
Armc3	A	T	2: 19,240,365 (GRCm39)	I41F	probably damaging	Het
Atg9a	A	C	1: 75,167,028 (GRCm39)	Y8D	probably damaging	Het
Atp10b	T	G	11: 43,093,984 (GRCm39)	H509Q	probably benign	Het
Cabyr	C	A	18: 12,883,804 (GRCm39)	T97K	probably benign	Het
Ccdc91	T	C	6: 147,438,920 (GRCm39)	F174S	possibly damaging	Het
Cep350	A	T	1: 155,798,164 (GRCm39)	H1207Q	probably benign	Het
Clstn3	A	T	6: 124,439,136 (GRCm39)	N40K	probably damaging	Het
Col4a4	G	A	1: 82,501,611 (GRCm39)	P381S	unknown	Het
Cpne5	A	T	17: 29,428,455 (GRCm39)	F116Y	probably benign	Het
Csf2rb2	T	C	15: 78,171,216 (GRCm39)	T457A	probably benign	Het
Cyp2b13	T	C	7: 25,781,223 (GRCm39)	F212L	probably benign	Het
Dlx6	T	G	6: 6,863,779 (GRCm39)	S134A	probably benign	Het
Egln1	A	G	8: 125,638,489 (GRCm39)	Y380H	probably benign	Het
Fbxl13	A	T	5: 21,728,652 (GRCm39)	I479N	probably damaging	Het
Fhip1a	G	T	3: 85,580,027 (GRCm39)	P726Q	probably benign	Het
Fis1	A	G	5: 136,991,865 (GRCm39)	K20E	probably benign	Het
Foxk1	G	T	5: 142,387,528 (GRCm39)	V84L	unknown	Het
Gdf5	C	A	2: 155,784,272 (GRCm39)	G227W	probably damaging	Het
Ghrh	T	A	2: 157,175,656 (GRCm39)	T13S	probably benign	Het
Gnb2	A	G	5: 137,526,865 (GRCm39)	L308P	probably damaging	Het
Grik2	A	T	10: 49,148,863 (GRCm39)	V574D	probably damaging	Het
Hydin	A	T	8: 111,336,543 (GRCm39)	I5107F	possibly damaging	Het
Kl	A	T	5: 150,906,229 (GRCm39)	Y533F	probably benign	Het
Man2b1	G	T	8: 85,822,907 (GRCm39)	R816L	probably damaging	Het
Myo5c	T	C	9: 75,182,823 (GRCm39)	Y821H	probably damaging	Het
Myo7b	A	T	18: 32,092,866 (GRCm39)	C2076S	probably damaging	Het
Naip6	C	T	13: 100,436,784 (GRCm39)	A580T	possibly damaging	Het
Nectin2	A	T	7: 19,472,275 (GRCm39)	V38E	probably damaging	Het
Or13a24	A	T	7: 140,154,044 (GRCm39)		probably benign	Het
Osbpl9	T	C	4: 108,921,770 (GRCm39)	Y536C	possibly damaging	Het
Pcdh18	T	G	3: 49,710,998 (GRCm39)	I106L	probably damaging	Het
Pde4dip	T	C	3: 97,606,428 (GRCm39)	K2149E	probably benign	Het
Pds5a	A	T	5: 65,803,681 (GRCm39)	C588S	probably benign	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pop1	T	C	15: 34,529,316 (GRCm39)	M812T	probably benign	Het
Pou2f3	T	C	9: 43,051,153 (GRCm39)	T178A	probably damaging	Het
Rab44	C	T	17: 29,359,294 (GRCm39)	A494V	unknown	Het
Ros1	G	C	10: 51,977,941 (GRCm39)	T1456S	possibly damaging	Het
Rubcnl	T	G	14: 75,289,425 (GRCm39)	F644L	probably damaging	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Sh3glb1	T	G	3: 144,397,198 (GRCm39)	E383D	probably damaging	Het
Sh3rf3	T	C	10: 58,919,407 (GRCm39)	V508A	probably damaging	Het
Sirt6	A	T	10: 81,458,328 (GRCm39)	H308Q	probably benign	Het
Slc29a1	T	A	17: 45,900,706 (GRCm39)	I119F	probably damaging	Het
Smtnl1	C	T	2: 84,648,742 (GRCm39)	E171K	probably benign	Het
Spg11	T	A	2: 121,923,923 (GRCm39)	E799D	probably damaging	Het
Tecpr1	A	T	5: 144,137,658 (GRCm39)	W894R	probably damaging	Het
Tiam2	A	C	17: 3,558,065 (GRCm39)	I1230L	possibly damaging	Het
Tnfrsf8	A	G	4: 145,019,265 (GRCm39)	L190P	probably damaging	Het
Trim35	C	T	14: 66,534,724 (GRCm39)	T69M	possibly damaging	Het
Ttll7	T	C	3: 146,645,779 (GRCm39)	Y546H	probably benign	Het
Ubash3b	C	T	9: 40,940,971 (GRCm39)	G389R	probably damaging	Het
Vma21-ps	C	T	4: 52,497,034 (GRCm39)	V71I	probably damaging	Het
Vmn1r43	T	A	6: 89,847,414 (GRCm39)	H24L	possibly damaging	Het
Vps37c	T	A	19: 10,687,719 (GRCm39)	L60Q	probably damaging	Het
Ythdf2	A	G	4: 131,931,946 (GRCm39)	W405R	probably damaging	Het
Zfp775	T	C	6: 48,597,637 (GRCm39)	C504R	probably damaging	Het
Zfp82	A	G	7: 29,761,652 (GRCm39)		probably null	Het
Zpr1	T	A	9: 46,185,400 (GRCm39)	I127N	probably 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
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
R9479:Cyb5d2	UTSW	11	72,669,702 (GRCm39)	missense

Predicted Primers

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

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

Posted On

2020-10-20