Mutagenetix > Incidental Mutation

Incidental Mutation 'R7631:Cyb5d1'

589653

Institutional Source

Beutler Lab

Gene Symbol

Cyb5d1

Ensembl Gene

ENSMUSG00000044795

Gene Name

cytochrome b5 domain containing 1

Synonyms

LOC327951

MMRRC Submission

045692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7631 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69282751-69286457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69285865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 57 (L57Q)

Ref Sequence

ENSEMBL: ENSMUSP00000059709 (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

possibly damaging
Transcript: ENSMUST00000051620
AA Change: L57Q

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059709
Gene: ENSMUSG00000044795
AA Change: L57Q

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

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

possibly damaging
Transcript: ENSMUST00000108660
AA Change: L57Q

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104300
Gene: ENSMUSG00000044795
AA Change: L57Q

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

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

Meta Mutation Damage Score

0.1578

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

87% (46/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	T	A	6: 34,834,606 (GRCm39)	L930H	possibly damaging	Het
Albfm1	T	C	5: 90,727,531 (GRCm39)	L383S	probably damaging	Het
Alcam	C	T	16: 52,109,276 (GRCm39)		probably null	Het
Ankrd31	A	G	13: 97,015,462 (GRCm39)	H1577R	probably benign	Het
Arfgef1	T	C	1: 10,302,694 (GRCm39)	N9S	probably benign	Het
Cpne9	T	C	6: 113,279,079 (GRCm39)	V491A	possibly damaging	Het
Cyp7a1	T	A	4: 6,272,763 (GRCm39)	Q150L	possibly damaging	Het
D430041D05Rik	A	C	2: 103,979,363 (GRCm39)	Y1336*	probably null	Het
Dcaf7	T	C	11: 105,944,579 (GRCm39)	V254A	probably benign	Het
Dchs1	T	C	7: 105,408,445 (GRCm39)	T1796A	probably benign	Het
Defa27	T	A	8: 21,805,657 (GRCm39)	D32E	probably benign	Het
Eno2	T	C	6: 124,744,019 (GRCm39)	E96G	probably benign	Het
Fbxw19	T	A	9: 109,311,069 (GRCm39)	Y380F	probably damaging	Het
Fer1l4	A	T	2: 155,890,195 (GRCm39)	N243K	probably damaging	Het
Fndc7	G	A	3: 108,776,568 (GRCm39)	A491V	probably damaging	Het
Gm14305	A	G	2: 176,410,790 (GRCm39)	Q15R	probably benign	Het
Gpr155	T	C	2: 73,213,291 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,624,513 (GRCm39)	H360R	probably damaging	Het
Ifi203	G	A	1: 173,754,688 (GRCm39)	T681I	unknown	Het
Klc2	A	G	19: 5,158,647 (GRCm39)	S616P	probably benign	Het
Lifr	A	G	15: 7,214,258 (GRCm39)	Y704C	probably damaging	Het
Lingo4	A	C	3: 94,306,767 (GRCm39)	D15A	possibly damaging	Het
Lrrc74a	A	T	12: 86,795,884 (GRCm39)	N286Y	probably damaging	Het
Mcm8	A	G	2: 132,669,963 (GRCm39)	T374A	not run	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naa25	A	G	5: 121,576,791 (GRCm39)	T847A	possibly damaging	Het
Nrxn2	T	A	19: 6,531,825 (GRCm39)	M763K	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or1p4-ps1	A	C	11: 74,208,357 (GRCm39)	T169P	unknown	Het
Or2r3	T	A	6: 42,448,870 (GRCm39)	M81L	probably benign	Het
Or5m11	A	T	2: 85,782,218 (GRCm39)	E270D	probably benign	Het
Or8c13	A	T	9: 38,092,002 (GRCm39)	V39E	probably damaging	Het
Otx1	G	A	11: 21,949,458 (GRCm39)	Q7*	probably null	Het
Pabpc4	T	G	4: 123,182,763 (GRCm39)	D133E	probably damaging	Het
Pcsk5	A	T	19: 17,542,144 (GRCm39)	C816S	probably damaging	Het
Pgm2	A	G	5: 64,265,522 (GRCm39)	T408A	possibly damaging	Het
Polr2m	G	C	9: 71,390,757 (GRCm39)	Y148*	probably null	Het
Reln	T	C	5: 22,176,933 (GRCm39)	N1911S	probably damaging	Het
Scaf4	T	C	16: 90,026,445 (GRCm39)	D1124G	unknown	Het
Scgb1b19	C	T	7: 32,986,784 (GRCm39)	T18I	probably damaging	Het
Septin12	T	A	16: 4,814,320 (GRCm39)	I50F	probably damaging	Het
Slc25a20	T	A	9: 108,539,491 (GRCm39)	M22K	probably benign	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smchd1	A	G	17: 71,705,684 (GRCm39)	F972L	probably benign	Het
Spem1	T	C	11: 69,712,409 (GRCm39)	Y85C	probably benign	Het
Strip1	C	T	3: 107,524,247 (GRCm39)	V557I	possibly damaging	Het
Tcirg1	G	T	19: 3,947,160 (GRCm39)	Q634K	probably damaging	Het
Tma7	T	A	9: 108,911,507 (GRCm39)		probably benign	Het
Tmem204	A	G	17: 25,299,414 (GRCm39)	L35P	probably damaging	Het
Trpc6	A	G	9: 8,626,702 (GRCm39)	T351A	probably benign	Het
Tubb2a	A	G	13: 34,259,227 (GRCm39)	S188P	probably damaging	Het
Ubr5	C	A	15: 38,029,751 (GRCm39)	L485F		Het
Vmn1r71	A	T	7: 10,482,378 (GRCm39)	S103R	probably damaging	Het
Vmn2r40	C	T	7: 8,911,119 (GRCm39)	D725N		Het
Zfp473	T	C	7: 44,383,128 (GRCm39)	R402G	possibly damaging	Het
Zfp82	A	T	7: 29,755,851 (GRCm39)	S410R	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
R5509:Cyb5d1	UTSW	11	69,284,561 (GRCm39)	splice site	probably null
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'- CTTGCGAATCTTCAAAAGCAAGG -3'
(R):5'- ATTTCACGCCGTCAGAAGTAG -3'

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

Posted On

2019-10-24