Mutagenetix > Incidental Mutation

Incidental Mutation 'R3832:Cyb5d2'

274075

Institutional Source

Beutler Lab

Gene Symbol

Cyb5d2

Ensembl Gene

ENSMUSG00000057778

Gene Name

cytochrome b5 domain containing 2

Synonyms

9330151E16Rik, neuferricin

MMRRC Submission

040887-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72668058-72686665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72686349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 80 (S80R)

Ref Sequence

ENSEMBL: ENSMUSP00000078623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069395] [ENSMUST00000079681] [ENSMUST00000156294] [ENSMUST00000207107] [ENSMUST00000172220]

AlphaFold

Q5SSH8

Predicted Effect

probably benign
Transcript: ENSMUST00000069395

SMART Domains

Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	28	68	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
APC10	246	397	2.65e-48	SMART
internal_repeat_1	1122	1192	1.25e-7	PROSPERO
low complexity region	1472	1485	N/A	INTRINSIC
low complexity region	1512	1525	N/A	INTRINSIC
ZnF_ZZ	1775	1823	2.54e-7	SMART
ZnF_ZZ	1824	1868	1.2e-8	SMART
low complexity region	1947	1963	N/A	INTRINSIC
low complexity region	2127	2140	N/A	INTRINSIC
low complexity region	2249	2263	N/A	INTRINSIC
internal_repeat_1	2657	2726	1.25e-7	PROSPERO
low complexity region	2840	2853	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079681
AA Change: S80R

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078623
Gene: ENSMUSG00000057778
AA Change: S80R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150551

Predicted Effect

probably benign
Transcript: ENSMUST00000156294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158599

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169476

Predicted Effect

probably benign
Transcript: ENSMUST00000207107

Predicted Effect

probably benign
Transcript: ENSMUST00000172220

SMART Domains

Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	28	68	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
APC10	246	397	2.65e-48	SMART
internal_repeat_1	1006	1192	1.57e-16	PROSPERO
low complexity region	1472	1485	N/A	INTRINSIC
low complexity region	1512	1525	N/A	INTRINSIC
ZnF_ZZ	1775	1823	2.54e-7	SMART
ZnF_ZZ	1824	1868	1.2e-8	SMART
low complexity region	1947	1963	N/A	INTRINSIC
low complexity region	2127	2140	N/A	INTRINSIC
low complexity region	2249	2263	N/A	INTRINSIC
internal_repeat_1	2583	2759	1.57e-16	PROSPERO
low complexity region	2873	2886	N/A	INTRINSIC

Meta Mutation Damage Score

0.1627

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	C	15: 94,229,339 (GRCm39)	C927G	probably damaging	Het
Afdn	T	A	17: 14,116,436 (GRCm39)	D190E	probably benign	Het
Aldh1a7	T	C	19: 20,685,602 (GRCm39)	Y316C	probably damaging	Het
Arhgef38	T	C	3: 132,912,686 (GRCm39)	R118G	possibly damaging	Het
Bcar3	A	G	3: 122,220,298 (GRCm39)	D65G	probably damaging	Het
Cacna1i	T	C	15: 80,240,388 (GRCm39)	F370S	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Cblc	T	C	7: 19,526,097 (GRCm39)	M238V	probably damaging	Het
Ccdc3	A	G	2: 5,233,953 (GRCm39)	N259S	probably benign	Het
Cep55	A	G	19: 38,041,560 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,546,951 (GRCm39)	D757G	unknown	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Erich3	G	A	3: 154,467,998 (GRCm39)	V817M	probably damaging	Het
Gdf6	T	C	4: 9,844,568 (GRCm39)	S31P	probably benign	Het
Gtsf1	T	C	15: 103,333,902 (GRCm39)	I25V	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klhl28	C	A	12: 64,998,195 (GRCm39)	G433V	probably damaging	Het
Lipn	T	C	19: 34,046,933 (GRCm39)		probably null	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Or14c44	A	T	7: 86,062,401 (GRCm39)	Y277F	probably damaging	Het
Or14j5	T	C	17: 38,162,071 (GRCm39)	V196A	probably benign	Het
Otud1	G	C	2: 19,662,951 (GRCm39)	A27P	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pdzd7	A	T	19: 45,028,693 (GRCm39)	V150E	probably damaging	Het
Peak1	T	C	9: 56,165,667 (GRCm39)	S754G	probably benign	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Phlpp1	G	A	1: 106,320,327 (GRCm39)	E1441K	probably damaging	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pikfyve	G	A	1: 65,283,579 (GRCm39)	V739I	probably damaging	Het
Plcg1	T	G	2: 160,596,357 (GRCm39)	M651R	possibly damaging	Het
Prex2	T	C	1: 11,226,588 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rab11fip1	G	A	8: 27,642,774 (GRCm39)	T675I	probably benign	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Slc39a8	T	A	3: 135,554,894 (GRCm39)	C113S	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tbc1d9	A	G	8: 83,960,292 (GRCm39)	S182G	probably damaging	Het
Tecta	A	C	9: 42,250,329 (GRCm39)	F1816C	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Trim47	T	C	11: 115,998,783 (GRCm39)	T279A	probably benign	Het
Ttll4	A	G	1: 74,725,550 (GRCm39)	K653E	probably damaging	Het
Vcam1	T	C	3: 115,908,140 (GRCm39)	T641A	possibly damaging	Het
Vmn1r16	A	G	6: 57,300,212 (GRCm39)	F137L	probably benign	Het
Vmn2r17	T	A	5: 109,576,262 (GRCm39)	W378R	probably damaging	Het
Zfp777	T	C	6: 48,021,149 (GRCm39)	T158A	probably benign	Het
Zp1	T	C	19: 10,893,888 (GRCm39)	D439G	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
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
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'- GTTGCGTCCAAGCTGCAAAC -3'
(R):5'- CTGTATAGATGCTGAGGATATGCG -3'

Sequencing Primer
(F):5'- TGCAAACCAGGACCGTGTC -3'
(R):5'- CTGAGGATATGCGGGCTTG -3'

Posted On

2015-04-02