Mutagenetix > Incidental Mutation

Incidental Mutation 'R5509:Cyb5d1'

431086

Institutional Source

Beutler Lab

Gene Symbol

Cyb5d1

Ensembl Gene

ENSMUSG00000044795

Gene Name

cytochrome b5 domain containing 1

Synonyms

LOC327951

MMRRC Submission

043070-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5509 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69282751-69286457 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 69284561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123155 (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: R197L

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

SMART Domains

Protein: ENSMUSP00000059709
Gene: ENSMUSG00000044795
AA Change: R197L

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

silent
Transcript: ENSMUST00000108660

SMART Domains

Protein: ENSMUSP00000104300
Gene: ENSMUSG00000044795

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 null
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: 98.6%
3x: 97.4%
10x: 95.5%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	C	17: 46,635,185 (GRCm39)	Q273E	probably benign	Het
Acly	C	T	11: 100,405,805 (GRCm39)	R329Q	probably damaging	Het
Acsm2	T	C	7: 119,172,840 (GRCm39)	S152P	probably damaging	Het
Adamtsl4	A	T	3: 95,588,667 (GRCm39)	I515N	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Atp9a	T	C	2: 168,481,857 (GRCm39)	D879G	probably damaging	Het
Bmp8b	G	A	4: 123,008,369 (GRCm39)	D112N	possibly damaging	Het
Camk2d	T	C	3: 126,633,965 (GRCm39)	W496R	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Cflar	T	C	1: 58,791,551 (GRCm39)	F285L	probably benign	Het
Cox16	T	C	12: 81,519,032 (GRCm39)	T176A	probably benign	Het
Cux1	G	T	5: 136,304,171 (GRCm39)	A1214D	probably benign	Het
Dennd6b	G	A	15: 89,069,225 (GRCm39)	P575S	probably damaging	Het
Fbxl2	A	T	9: 113,814,415 (GRCm39)		probably null	Het
Gfpt2	T	C	11: 49,717,973 (GRCm39)	F483L	possibly damaging	Het
Glrx3	T	C	7: 137,046,751 (GRCm39)	C48R	probably damaging	Het
Invs	G	A	4: 48,396,337 (GRCm39)	V281M	probably damaging	Het
Kif13a	G	A	13: 46,905,591 (GRCm39)	A784V	probably benign	Het
Kmt2d	T	C	15: 98,737,557 (GRCm39)		probably benign	Het
Lmod2	A	G	6: 24,603,888 (GRCm39)	T288A	probably damaging	Het
Lrrc37a	T	C	11: 103,391,361 (GRCm39)	K1355E	probably benign	Het
Magi3	A	T	3: 103,922,818 (GRCm39)	S1300T	probably benign	Het
Mdm2	A	C	10: 117,526,517 (GRCm39)	D307E	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mroh4	T	C	15: 74,478,003 (GRCm39)	Y901C	probably benign	Het
Mtmr14	G	T	6: 113,230,768 (GRCm39)		probably null	Het
Mug2	A	T	6: 122,061,340 (GRCm39)	Q1420L	possibly damaging	Het
Net1	T	C	13: 3,934,320 (GRCm39)	Q459R	probably benign	Het
Nle1	T	C	11: 82,794,008 (GRCm39)	R343G	possibly damaging	Het
Npat	C	A	9: 53,481,542 (GRCm39)	N1083K	probably benign	Het
Nrp1	G	A	8: 129,152,396 (GRCm39)	G202R	possibly damaging	Het
Nsun4	C	T	4: 115,908,974 (GRCm39)	V529I	possibly damaging	Het
Or4b1d	T	A	2: 89,969,236 (GRCm39)	L82F	probably damaging	Het
Or4z4	T	A	19: 12,076,341 (GRCm39)	I221F	possibly damaging	Het
Or5b117	A	T	19: 13,431,332 (GRCm39)	L183Q	probably damaging	Het
Or8g21	T	C	9: 38,905,924 (GRCm39)	D269G	probably benign	Het
Podxl	A	T	6: 31,503,548 (GRCm39)	N264K	probably benign	Het
Ptprm	C	T	17: 66,996,353 (GRCm39)	A1245T	probably damaging	Het
Rdh12	T	A	12: 79,257,558 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,760,487 (GRCm39)	Y1532F	probably damaging	Het
Senp2	T	C	16: 21,859,272 (GRCm39)	F441S	probably damaging	Het
Snap23	C	A	2: 120,425,346 (GRCm39)	P111T	probably benign	Het
Sox2	A	G	3: 34,704,938 (GRCm39)	D125G	probably damaging	Het
Syne2	T	C	12: 75,968,018 (GRCm39)	W923R	probably damaging	Het
Tbc1d2b	T	C	9: 90,101,022 (GRCm39)	E656G	probably damaging	Het
Tbcd	A	G	11: 121,492,838 (GRCm39)	T892A	probably benign	Het
Tg	A	G	15: 66,699,142 (GRCm39)	I24V	probably benign	Het
Trpm3	A	T	19: 22,964,622 (GRCm39)	K1372N	probably damaging	Het
Ubc	A	T	5: 125,464,339 (GRCm39)	N329K	probably benign	Het
Vmn2r106	T	A	17: 20,498,684 (GRCm39)	H409L	probably damaging	Het
Wdfy3	T	A	5: 102,009,314 (GRCm39)	N2751Y	possibly damaging	Het
Zfp518a	T	A	19: 40,903,845 (GRCm39)	I1258K	possibly damaging	Het
Zfp91	T	C	19: 12,756,451 (GRCm39)	E131G	probably damaging	Het
Zfyve26	T	A	12: 79,293,295 (GRCm39)	R2027W	probably damaging	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
R2220:Cyb5d1	UTSW	11	69,285,871 (GRCm39)	missense	probably benign	0.00
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
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'- TGTCAGAAAGGCCCAAGAAC -3'
(R):5'- TCCAAGCAGAATTCTAGAGGTGG -3'

Sequencing Primer
(F):5'- AAGAACCACGGACTGATTCTC -3'
(R):5'- CAGAATTCTAGAGGTGGACACTTCTG -3'

Posted On

2016-10-05