Mutagenetix > Incidental Mutation

Incidental Mutation 'R2188:Cdc34b'

237937

Institutional Source

Beutler Lab

Gene Symbol

Cdc34b

Ensembl Gene

ENSMUSG00000020870

Gene Name

cell division cycle 34B

Synonyms

Cdc34-ps

MMRRC Submission

040190-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

R2188 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94632663-94633840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94632998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 66 (I66T)

Ref Sequence

ENSEMBL: ENSMUSP00000021240 (fasta)

Gene Model

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

AlphaFold

A0A140T8I4

Predicted Effect

probably benign
Transcript: ENSMUST00000021240
AA Change: I66T

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021240
Gene: ENSMUSG00000020870
AA Change: I66T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188741
AA Change: I66T

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

SMART Domains

Protein: ENSMUSP00000139570
Gene: ENSMUSG00000020870
AA Change: I66T

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,838,367 (GRCm39)	L547P	probably damaging	Het
Arhgap29	A	C	3: 121,784,658 (GRCm39)	D195A	probably damaging	Het
Atad3a	A	T	4: 155,835,976 (GRCm39)	I274N	probably damaging	Het
Ccdc12	G	T	9: 110,485,699 (GRCm39)	K23N	possibly damaging	Het
Ccpg1	A	G	9: 72,920,388 (GRCm39)	T668A	probably benign	Het
Dnah1	A	G	14: 31,001,121 (GRCm39)	I2408T	probably damaging	Het
Fam91a1	A	C	15: 58,302,512 (GRCm39)	N284T	probably damaging	Het
Gbp2b	A	T	3: 142,314,040 (GRCm39)	E440V	probably benign	Het
Gm5134	T	C	10: 75,831,670 (GRCm39)	S370P	probably damaging	Het
Hmcn2	G	A	2: 31,309,947 (GRCm39)	A3238T	probably benign	Het
Hmg20a	A	G	9: 56,384,584 (GRCm39)	E118G	possibly damaging	Het
Itprid2	T	C	2: 79,475,267 (GRCm39)	S409P	probably benign	Het
Kdm5a	T	A	6: 120,383,601 (GRCm39)	F781I	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2d	A	G	15: 98,737,181 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 41,298,971 (GRCm39)	T857A	probably benign	Het
Mucl2	T	A	15: 103,927,840 (GRCm39)	N39I	probably damaging	Het
Myl6	A	G	10: 128,328,566 (GRCm39)	I27T	possibly damaging	Het
Ndor1	A	T	2: 25,141,765 (GRCm39)		probably null	Het
Nlrp9a	A	G	7: 26,264,354 (GRCm39)	E758G	probably damaging	Het
Or52h7	G	A	7: 104,213,883 (GRCm39)	A152T	probably benign	Het
Or8u8	A	T	2: 86,011,780 (GRCm39)	I225N	probably damaging	Het
Parp3	G	A	9: 106,353,051 (GRCm39)	R42W	probably damaging	Het
Pik3c2g	A	G	6: 139,798,600 (GRCm39)	I495V	probably damaging	Het
Qrfprl	C	A	6: 65,418,260 (GRCm39)	H143N	probably damaging	Het
Sdsl	C	T	5: 120,596,485 (GRCm39)	G310S	probably damaging	Het
Sec24a	A	G	11: 51,614,411 (GRCm39)	L531P	probably damaging	Het
Slc2a12	C	T	10: 22,540,736 (GRCm39)	S197F	probably benign	Het
Snapc1	T	A	12: 74,017,001 (GRCm39)	I213N	probably damaging	Het
Srpk1	A	T	17: 28,813,163 (GRCm39)	I527N	probably damaging	Het
Steap2	G	T	5: 5,723,643 (GRCm39)	Y412*	probably null	Het
Tbk1	A	C	10: 121,399,836 (GRCm39)	Y329*	probably null	Het
Tekt5	T	C	16: 10,176,189 (GRCm39)	E452G	probably damaging	Het
Tmc5	G	T	7: 118,254,178 (GRCm39)	C672F	probably damaging	Het
Trim27	T	C	13: 21,367,987 (GRCm39)	L201S	probably damaging	Het
Vil1	A	C	1: 74,466,724 (GRCm39)	D638A	probably benign	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Zfp583	C	T	7: 6,320,610 (GRCm39)	R134H	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
R2497:Cdc34b	UTSW	11	94,633,207 (GRCm39)	missense	probably benign	0.00
R3932:Cdc34b	UTSW	11	94,633,441 (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'- GAAGGTGCTGCTACTGGAAC -3'
(R):5'- TTTCTGTACATCACCGAGGC -3'

Sequencing Primer
(F):5'- TGCTGCTACTGGAACTGAAG -3'
(R):5'- ATTACACTCAGGAGGATGGTTCTGAC -3'

Posted On

2014-10-02