Mutagenetix > Incidental Mutation

Incidental Mutation 'R2220:Cyb5d1'

241439

Institutional Source

Beutler Lab

Gene Symbol

Cyb5d1

Ensembl Gene

ENSMUSG00000044795

Gene Name

cytochrome b5 domain containing 1

Synonyms

LOC327951

MMRRC Submission

040222-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2220 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69282751-69286457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69285871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 55 (D55G)

Ref Sequence

ENSEMBL: ENSMUSP00000104300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050140] [ENSMUST00000051620] [ENSMUST00000094077] [ENSMUST00000108660] [ENSMUST00000144531]

AlphaFold

Q5NCY3

Predicted Effect

probably benign
Transcript: ENSMUST00000050140

SMART Domains

Protein: ENSMUSP00000055528
Gene: ENSMUSG00000045377

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	86	108	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051620
AA Change: D55G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000059709
Gene: ENSMUSG00000044795
AA Change: D55G

Domain	Start	End	E-Value	Type
Cyt-b5	20	92	1.89e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082283

Predicted Effect

probably benign
Transcript: ENSMUST00000094077

SMART Domains

Protein: ENSMUSP00000091620
Gene: ENSMUSG00000018476

Domain	Start	End	E-Value	Type
low complexity region	29	43	N/A	INTRINSIC
low complexity region	54	71	N/A	INTRINSIC
SCOP:d1elwa_	91	152	9e-5	SMART
low complexity region	214	227	N/A	INTRINSIC
low complexity region	239	270	N/A	INTRINSIC
low complexity region	312	329	N/A	INTRINSIC
low complexity region	333	345	N/A	INTRINSIC
low complexity region	389	415	N/A	INTRINSIC
low complexity region	461	487	N/A	INTRINSIC
low complexity region	515	524	N/A	INTRINSIC
low complexity region	544	577	N/A	INTRINSIC
low complexity region	585	615	N/A	INTRINSIC
low complexity region	643	650	N/A	INTRINSIC
low complexity region	711	719	N/A	INTRINSIC
low complexity region	743	766	N/A	INTRINSIC
low complexity region	771	811	N/A	INTRINSIC
low complexity region	840	879	N/A	INTRINSIC
low complexity region	890	909	N/A	INTRINSIC
low complexity region	950	989	N/A	INTRINSIC
low complexity region	993	1011	N/A	INTRINSIC
low complexity region	1044	1068	N/A	INTRINSIC
low complexity region	1284	1317	N/A	INTRINSIC
JmjC	1337	1500	1.61e-47	SMART
Blast:JmjC	1536	1600	1e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000108660
AA Change: D55G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000104300
Gene: ENSMUSG00000044795
AA Change: D55G

Domain	Start	End	E-Value	Type
Cyt-b5	20	92	1.89e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142126

Predicted Effect

probably benign
Transcript: ENSMUST00000144531

SMART Domains

Protein: ENSMUSP00000123155
Gene: ENSMUSG00000059278

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
Sm	43	114	4.26e-15	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,344,572 (GRCm39)	I116T	probably damaging	Het
Aatk	G	T	11: 119,903,003 (GRCm39)	F407L	probably damaging	Het
Abca8a	A	T	11: 109,917,681 (GRCm39)	L1586Q	probably damaging	Het
Aox1	A	G	1: 58,388,289 (GRCm39)		probably null	Het
Ap5m1	A	G	14: 49,318,552 (GRCm39)	D420G	probably damaging	Het
Bcl6	A	T	16: 23,791,382 (GRCm39)	L324*	probably null	Het
Bicc1	A	G	10: 70,785,955 (GRCm39)	S396P	probably damaging	Het
Bltp1	T	C	3: 36,929,679 (GRCm39)		probably null	Het
Ccdc83	G	A	7: 89,908,722 (GRCm39)	S4L	probably damaging	Het
Cdkal1	T	A	13: 29,538,741 (GRCm39)	M473L	probably benign	Het
Cep85	T	C	4: 133,881,178 (GRCm39)	H363R	probably damaging	Het
Cfap61	G	A	2: 145,878,736 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,943,184 (GRCm39)	I1614V	probably damaging	Het
Cluh	T	A	11: 74,557,947 (GRCm39)	F1062I	probably damaging	Het
Cntnap5a	A	T	1: 116,508,369 (GRCm39)	T1294S	possibly damaging	Het
Cops8	A	C	1: 90,534,341 (GRCm39)	N94T	probably benign	Het
Csmd1	T	C	8: 16,042,641 (GRCm39)	D2364G	possibly damaging	Het
Cyp2c29	A	T	19: 39,275,676 (GRCm39)	I39F	probably benign	Het
Cyp2j8	T	C	4: 96,332,862 (GRCm39)	S495G	probably benign	Het
Dhx30	A	G	9: 109,916,703 (GRCm39)	L575P	probably damaging	Het
Dnah7a	C	T	1: 53,560,333 (GRCm39)	V2113I	probably benign	Het
Dusp3	T	C	11: 101,865,631 (GRCm39)	N95D	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fer1l4	T	G	2: 155,873,684 (GRCm39)	Y1207S	probably damaging	Het
Flg2	T	G	3: 93,109,492 (GRCm39)	S507A	unknown	Het
Gdf6	A	G	4: 9,844,770 (GRCm39)	H98R	probably damaging	Het
Ggnbp2	T	C	11: 84,727,439 (GRCm39)	N63S	possibly damaging	Het
Ggt7	A	G	2: 155,337,639 (GRCm39)	S504P	probably damaging	Het
Gtf2h5	G	A	17: 6,134,853 (GRCm39)	E48K	probably benign	Het
Hivep3	T	G	4: 119,591,235 (GRCm39)	V81G	possibly damaging	Het
Igsf21	A	G	4: 139,755,425 (GRCm39)	M410T	probably damaging	Het
Insrr	T	C	3: 87,716,725 (GRCm39)	L651P	probably damaging	Het
Iqcb1	A	T	16: 36,663,824 (GRCm39)		probably null	Het
Klhdc7a	G	A	4: 139,692,764 (GRCm39)	R728C	probably benign	Het
Lars2	T	C	9: 123,247,845 (GRCm39)	L334P	probably damaging	Het
Mast3	T	C	8: 71,233,607 (GRCm39)	E994G	probably damaging	Het
Mertk	T	A	2: 128,643,392 (GRCm39)	N930K	probably benign	Het
Mettl21a	A	T	1: 64,655,442 (GRCm39)	V46E	probably damaging	Het
Nedd4	T	A	9: 72,643,989 (GRCm39)	C614S	probably damaging	Het
Or13a19	T	C	7: 139,903,484 (GRCm39)	S291P	probably benign	Het
Or2l13b	A	T	16: 19,348,895 (GRCm39)	Y258*	probably null	Het
Or5k1	G	T	16: 58,617,987 (GRCm39)	A74D	possibly damaging	Het
Pard3b	C	T	1: 62,518,842 (GRCm39)	R976*	probably null	Het
Pcdhb16	A	G	18: 37,612,020 (GRCm39)	T327A	probably benign	Het
Pira12	A	T	7: 3,900,488 (GRCm39)	N87K	probably benign	Het
Ppp1r37	C	A	7: 19,266,371 (GRCm39)	R465L	probably null	Het
Ppp3ca	C	A	3: 136,503,685 (GRCm39)	T86K	probably damaging	Het
Ralgapa2	G	A	2: 146,263,599 (GRCm39)	T706I	probably benign	Het
Rnf213	T	C	11: 119,327,254 (GRCm39)	L1747P	possibly damaging	Het
Slc11a1	T	A	1: 74,419,824 (GRCm39)	F166I	probably damaging	Het
Slc25a18	G	A	6: 120,770,518 (GRCm39)		probably null	Het
Stt3a	A	G	9: 36,660,847 (GRCm39)		probably null	Het
Supt16	G	A	14: 52,409,601 (GRCm39)	R770*	probably null	Het
Syde2	A	G	3: 145,707,713 (GRCm39)	I551V	probably benign	Het
Tasor2	A	T	13: 3,631,872 (GRCm39)	N876K	probably benign	Het
Tecta	T	C	9: 42,303,326 (GRCm39)	D102G	probably damaging	Het
Tmc7	A	T	7: 118,152,039 (GRCm39)	I294N	possibly damaging	Het
Tmem174	T	C	13: 98,773,767 (GRCm39)	Y21C	probably damaging	Het
Tomm40l	A	T	1: 171,049,550 (GRCm39)	L13*	probably null	Het
Trim30c	A	G	7: 104,032,474 (GRCm39)	V284A	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Uggt2	A	T	14: 119,312,749 (GRCm39)	N353K	probably damaging	Het
Vps13d	C	T	4: 144,904,890 (GRCm39)	V79M	probably damaging	Het
Wfdc18	C	T	11: 83,600,739 (GRCm39)	R45*	probably null	Het

Other mutations in Cyb5d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Cyb5d1	APN	11	69,284,610 (GRCm39)	splice site	probably null
IGL01897:Cyb5d1	APN	11	69,284,587 (GRCm39)	missense	probably benign
IGL02566:Cyb5d1	APN	11	69,284,594 (GRCm39)	missense	probably benign	0.01
IGL02732:Cyb5d1	APN	11	69,284,635 (GRCm39)	splice site	probably null
R0025:Cyb5d1	UTSW	11	69,285,792 (GRCm39)	splice site	probably null
R0760:Cyb5d1	UTSW	11	69,285,999 (GRCm39)	missense	probably benign
R1195:Cyb5d1	UTSW	11	69,285,797 (GRCm39)	critical splice donor site	probably null
R1195:Cyb5d1	UTSW	11	69,285,797 (GRCm39)	critical splice donor site	probably null
R1195:Cyb5d1	UTSW	11	69,285,797 (GRCm39)	critical splice donor site	probably null
R1907:Cyb5d1	UTSW	11	69,285,566 (GRCm39)	missense	probably benign	0.32
R3756:Cyb5d1	UTSW	11	69,284,658 (GRCm39)	missense	probably damaging	1.00
R4757:Cyb5d1	UTSW	11	69,285,814 (GRCm39)	missense	probably damaging	0.99
R4994:Cyb5d1	UTSW	11	69,284,597 (GRCm39)	missense	probably damaging	1.00
R5509:Cyb5d1	UTSW	11	69,284,561 (GRCm39)	splice site	probably null
R7631:Cyb5d1	UTSW	11	69,285,865 (GRCm39)	missense	possibly damaging	0.82
R9348:Cyb5d1	UTSW	11	69,285,830 (GRCm39)	missense	probably damaging	0.99
R9395:Cyb5d1	UTSW	11	69,284,531 (GRCm39)	missense	probably benign	0.00
Z1186:Cyb5d1	UTSW	11	69,286,098 (GRCm39)	missense	probably benign	0.35
Z1186:Cyb5d1	UTSW	11	69,286,028 (GRCm39)	missense	probably benign
Z1187:Cyb5d1	UTSW	11	69,286,098 (GRCm39)	missense	probably benign	0.35
Z1187:Cyb5d1	UTSW	11	69,286,028 (GRCm39)	missense	probably benign
Z1188:Cyb5d1	UTSW	11	69,286,098 (GRCm39)	missense	probably benign	0.35
Z1188:Cyb5d1	UTSW	11	69,286,028 (GRCm39)	missense	probably benign
Z1189:Cyb5d1	UTSW	11	69,286,098 (GRCm39)	missense	probably benign	0.35
Z1189:Cyb5d1	UTSW	11	69,286,028 (GRCm39)	missense	probably benign
Z1190:Cyb5d1	UTSW	11	69,286,098 (GRCm39)	missense	probably benign	0.35
Z1190:Cyb5d1	UTSW	11	69,286,028 (GRCm39)	missense	probably benign
Z1191:Cyb5d1	UTSW	11	69,286,098 (GRCm39)	missense	probably benign	0.35
Z1191:Cyb5d1	UTSW	11	69,286,028 (GRCm39)	missense	probably benign
Z1192:Cyb5d1	UTSW	11	69,286,098 (GRCm39)	missense	probably benign	0.35
Z1192:Cyb5d1	UTSW	11	69,286,028 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGCTTGCGAATCTTCAAAAGC -3'
(R):5'- TTTCACGCCGTCAGAAGTAGC -3'

Sequencing Primer
(F):5'- GCGAATCTTCAAAAGCAAGGATTTG -3'
(R):5'- CCGTCAGAAGTAGCGGAACAC -3'

Posted On

2014-10-15