Mutagenetix > Incidental Mutation

Incidental Mutation 'R1609:Cbr4'

176676

Institutional Source

Beutler Lab

Gene Symbol

Cbr4

Ensembl Gene

ENSMUSG00000031641

Gene Name

carbonyl reductase 4

Synonyms

A730083J17Rik

MMRRC Submission

039646-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

R1609 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61940768-61956534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61956192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 220 (Y220N)

Ref Sequence

ENSEMBL: ENSMUSP00000034058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034058]

AlphaFold

Q91VT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034058
AA Change: Y220N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034058
Gene: ENSMUSG00000031641
AA Change: Y220N

Domain	Start	End	E-Value	Type
Pfam:adh_short	3	192	2.4e-54	PFAM
Pfam:KR	4	182	6.5e-18	PFAM
Pfam:adh_short_C2	9	233	4.4e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155442

Meta Mutation Damage Score

0.7665

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.1%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	C	T	12: 84,039,630 (GRCm39)	R380C	possibly damaging	Het
Allc	A	T	12: 28,603,993 (GRCm39)	D363E	probably damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
App	C	A	16: 84,876,837 (GRCm39)	V185L	probably damaging	Het
Atp5if1	T	C	4: 132,258,078 (GRCm39)	D47G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Ccdc6	C	A	10: 70,002,877 (GRCm39)	Q203K	probably damaging	Het
Cntnap2	T	C	6: 45,992,264 (GRCm39)	V397A	probably benign	Het
Dmxl2	A	G	9: 54,316,547 (GRCm39)	I1613T	possibly damaging	Het
Dnah14	T	C	1: 181,577,742 (GRCm39)	S3020P	probably damaging	Het
Dnah7b	T	C	1: 46,392,126 (GRCm39)	L3829P	probably damaging	Het
Fbxw25	C	T	9: 109,492,578 (GRCm39)	C53Y	probably benign	Het
Fndc1	G	T	17: 7,991,598 (GRCm39)	H699Q	unknown	Het
Gnaq	G	A	19: 16,360,618 (GRCm39)	V314M	possibly damaging	Het
Gpr158	A	G	2: 21,788,104 (GRCm39)	T582A	possibly damaging	Het
Mapk1	T	C	16: 16,856,170 (GRCm39)		probably benign	Het
Med1	T	A	11: 98,051,996 (GRCm39)	H456L	possibly damaging	Het
Myo6	G	A	9: 80,195,499 (GRCm39)		probably null	Het
Nipbl	A	G	15: 8,396,148 (GRCm39)	Y142H	probably damaging	Het
Or4c113	A	T	2: 88,885,688 (GRCm39)	F27L	probably benign	Het
Or8k24	A	G	2: 86,215,838 (GRCm39)	I308T	probably benign	Het
Or8k33	A	C	2: 86,383,949 (GRCm39)	V173G	probably damaging	Het
Pgbd5	T	C	8: 125,160,750 (GRCm39)	D39G	probably benign	Het
Pnisr	G	T	4: 21,871,440 (GRCm39)	G387*	probably null	Het
Pnpla6	T	C	8: 3,567,135 (GRCm39)	L61P	probably damaging	Het
Prkra	A	T	2: 76,463,936 (GRCm39)	I242N	probably benign	Het
Rp1	A	G	1: 4,419,424 (GRCm39)	S563P	probably damaging	Het
Rtp3	A	G	9: 110,815,085 (GRCm39)		probably benign	Het
Sema3d	A	G	5: 12,591,023 (GRCm39)	T301A	probably damaging	Het
Setmar	A	G	6: 108,053,076 (GRCm39)	D190G	probably benign	Het
Sf3b2	A	G	19: 5,345,061 (GRCm39)		probably benign	Het
Taf4b	A	G	18: 14,968,938 (GRCm39)	K692E	probably damaging	Het
Tktl2	A	G	8: 66,965,504 (GRCm39)	E354G	probably benign	Het
Tspan4	A	G	7: 141,071,557 (GRCm39)	T135A	probably damaging	Het
Vmn1r22	G	T	6: 57,877,733 (GRCm39)	Y81*	probably null	Het
Vmn2r31	T	C	7: 7,387,888 (GRCm39)	E561G	probably damaging	Het
Xrn1	A	T	9: 95,856,946 (GRCm39)	K389N	probably benign	Het
Zfp277	A	T	12: 40,378,719 (GRCm39)	N379K	probably damaging	Het

Other mutations in Cbr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Cbr4	APN	8	61,956,245 (GRCm39)	makesense	probably null
R0498:Cbr4	UTSW	8	61,948,107 (GRCm39)	missense	probably benign	0.00
R0637:Cbr4	UTSW	8	61,943,740 (GRCm39)	splice site	probably benign
R4168:Cbr4	UTSW	8	61,944,555 (GRCm39)	intron	probably benign
R4709:Cbr4	UTSW	8	61,943,061 (GRCm39)	missense	possibly damaging	0.66
R4802:Cbr4	UTSW	8	61,943,113 (GRCm39)	intron	probably benign
R5049:Cbr4	UTSW	8	61,948,238 (GRCm39)	critical splice donor site	probably null
R5876:Cbr4	UTSW	8	61,943,627 (GRCm39)	missense	possibly damaging	0.78
R6020:Cbr4	UTSW	8	61,940,887 (GRCm39)	missense	probably benign	0.44
R7818:Cbr4	UTSW	8	61,940,976 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCTTTATGTTTGCCAAGAGCTGAGCC -3'
(R):5'- ACACCCTTTACAACTGGTCACACTTTG -3'

Sequencing Primer
(F):5'- TGCTAACAGTACTCTGAAGTTCC -3'
(R):5'- GATGGAATCCTTTGTAGCATCC -3'

Posted On

2014-04-24