Mutagenetix > Incidental Mutation

Incidental Mutation 'R3932:Cdc34b'

308515

Institutional Source

Beutler Lab

Gene Symbol

Cdc34b

Ensembl Gene

ENSMUSG00000020870

Gene Name

cell division cycle 34B

Synonyms

Cdc34-ps

MMRRC Submission

040919-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R3932 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94632663-94633840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94633441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 214 (V214M)

Ref Sequence

ENSEMBL: ENSMUSP00000139570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021240] [ENSMUST00000188741]

AlphaFold

A0A140T8I4

Predicted Effect

probably benign
Transcript: ENSMUST00000021240
AA Change: V214M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021240
Gene: ENSMUSG00000020870
AA Change: V214M

Domain	Start	End	E-Value	Type
UBCc	11	174	6.08e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188741
AA Change: V214M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139570
Gene: ENSMUSG00000020870
AA Change: V214M

Domain	Start	End	E-Value	Type
UBCc	11	174	2.9e-61	SMART

Meta Mutation Damage Score

0.0744

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Arl1	C	T	10: 88,569,398 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10a	T	C	7: 58,476,852 (GRCm39)	M1189T	possibly damaging	Het
Bcl2l14	A	G	6: 134,400,771 (GRCm39)	D64G	probably damaging	Het
Cfap54	T	C	10: 92,665,619 (GRCm39)	T2985A	probably benign	Het
Clcc1	T	C	3: 108,580,682 (GRCm39)	M332T	probably damaging	Het
Coch	T	C	12: 51,650,121 (GRCm39)	I370T	probably damaging	Het
Ctdnep1	A	G	11: 69,880,400 (GRCm39)		probably benign	Het
Edar	C	T	10: 58,446,164 (GRCm39)	C221Y	probably damaging	Het
Fam135b	T	A	15: 71,322,280 (GRCm39)	Q1295L	probably benign	Het
Fam184a	C	T	10: 53,575,397 (GRCm39)	A71T	probably damaging	Het
Fbxw10	A	G	11: 62,759,983 (GRCm39)		probably benign	Het
Frmd4a	T	C	2: 4,542,071 (GRCm39)	W247R	probably damaging	Het
Gcn1	A	G	5: 115,725,893 (GRCm39)	H553R	probably benign	Het
Grin3a	C	T	4: 49,672,472 (GRCm39)		probably null	Het
H2-Q6	C	T	17: 35,644,542 (GRCm39)		probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hspg2	T	C	4: 137,242,879 (GRCm39)	V670A	probably damaging	Het
Med10	A	G	13: 69,958,101 (GRCm39)	N18D	probably damaging	Het
Mgat4b	T	A	11: 50,124,165 (GRCm39)	H368Q	possibly damaging	Het
Morn5	C	A	2: 35,943,035 (GRCm39)	T45N	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msl3	C	T	X: 167,454,813 (GRCm39)	A87T	probably damaging	Het
Myrf	T	C	19: 10,195,515 (GRCm39)	T432A	probably damaging	Het
Nalf2	G	A	X: 98,865,470 (GRCm39)	V266M	possibly damaging	Het
Nav3	T	A	10: 109,529,896 (GRCm39)	E2148D	probably damaging	Het
Nfe2l3	A	G	6: 51,433,595 (GRCm39)	T236A	possibly damaging	Het
Odc1	T	A	12: 17,598,801 (GRCm39)	F227Y	probably benign	Het
Opa1	A	T	16: 29,429,698 (GRCm39)	E401D	probably damaging	Het
Or5b21	T	C	19: 12,839,994 (GRCm39)	M285T	possibly damaging	Het
Pdcd1	T	C	1: 93,968,989 (GRCm39)	I110V	probably benign	Het
Pde5a	G	A	3: 122,554,545 (GRCm39)	E212K	probably damaging	Het
Plin4	A	G	17: 56,413,704 (GRCm39)	I307T	probably benign	Het
Rag1	T	C	2: 101,473,384 (GRCm39)	Y586C	probably damaging	Het
Rgs7bp	T	C	13: 105,189,506 (GRCm39)	M98V	probably benign	Het
Rgs9	A	G	11: 109,166,639 (GRCm39)		probably benign	Het
Rin3	A	G	12: 102,356,342 (GRCm39)	D961G	probably damaging	Het
Rubcn	A	G	16: 32,649,629 (GRCm39)		probably null	Het
Slc13a2	T	A	11: 78,289,226 (GRCm39)	Y495F	probably damaging	Het
Tfec	T	A	6: 16,845,458 (GRCm39)	D67V	probably damaging	Het
Tmem94	T	C	11: 115,680,080 (GRCm39)	M30T	probably benign	Het
Tsbp1	A	G	17: 34,662,417 (GRCm39)	T86A	possibly damaging	Het
Tubgcp6	A	G	15: 88,988,617 (GRCm39)		probably benign	Het
Vmn2r10	C	A	5: 109,150,088 (GRCm39)	A319S	possibly damaging	Het
Vmn2r85	T	C	10: 130,254,336 (GRCm39)	M783V	probably damaging	Het
Zfp422	T	C	6: 116,603,420 (GRCm39)	K193R	probably benign	Het
Zfp94	T	G	7: 24,003,112 (GRCm39)	D110A	probably benign	Het

Other mutations in Cdc34b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Cdc34b	APN	11	94,633,420 (GRCm39)	missense	probably benign	0.01
IGL01670:Cdc34b	APN	11	94,632,845 (GRCm39)	missense	probably benign	0.03
IGL01689:Cdc34b	APN	11	94,633,345 (GRCm39)	missense	probably benign	0.01
R1848:Cdc34b	UTSW	11	94,633,303 (GRCm39)	missense	probably damaging	1.00
R2038:Cdc34b	UTSW	11	94,633,114 (GRCm39)	nonsense	probably null
R2134:Cdc34b	UTSW	11	94,633,252 (GRCm39)	missense	probably damaging	1.00
R2188:Cdc34b	UTSW	11	94,632,998 (GRCm39)	missense	probably benign	0.23
R2497:Cdc34b	UTSW	11	94,633,207 (GRCm39)	missense	probably benign	0.00
R4471:Cdc34b	UTSW	11	94,633,064 (GRCm39)	missense	probably benign	0.22
R4964:Cdc34b	UTSW	11	94,633,087 (GRCm39)	missense	probably damaging	1.00
R4966:Cdc34b	UTSW	11	94,633,087 (GRCm39)	missense	probably damaging	1.00
R5159:Cdc34b	UTSW	11	94,632,886 (GRCm39)	missense	probably damaging	1.00
R8906:Cdc34b	UTSW	11	94,632,911 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCGGTGATGTACAGAAAATGG -3'
(R):5'- TTCTCCAAAGCCGAGGAAAC -3'

Sequencing Primer
(F):5'- TGATGTACAGAAAATGGAAGGAGAGC -3'
(R):5'- AGCCGAGGAAACCCCATGG -3'

Posted On

2015-04-17