Mutagenetix > Incidental Mutation

Incidental Mutation 'R2038:Cdc34b'

225336

Institutional Source

Beutler Lab

Gene Symbol

Cdc34b

Ensembl Gene

ENSMUSG00000020870

Gene Name

cell division cycle 34B

Synonyms

Cdc34-ps

MMRRC Submission

040045-MU

Accession Numbers

Essential gene?

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

Stock #

R2038 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94632663-94633840 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 94633114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 105 (Q105*)

Ref Sequence

ENSEMBL: ENSMUSP00000139570 (fasta)

Gene Model

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

AlphaFold

A0A140T8I4

Predicted Effect

probably null
Transcript: ENSMUST00000021240
AA Change: Q105*

SMART Domains

Protein: ENSMUSP00000021240
Gene: ENSMUSG00000020870
AA Change: Q105*

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

Predicted Effect

probably null
Transcript: ENSMUST00000188741
AA Change: Q105*

SMART Domains

Protein: ENSMUSP00000139570
Gene: ENSMUSG00000020870
AA Change: Q105*

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,389,762 (GRCm39)	Y54C	probably damaging	Het
Adgrf4	A	T	17: 42,978,754 (GRCm39)	H196Q	probably damaging	Het
Astn1	T	G	1: 158,484,690 (GRCm39)	S918A	probably benign	Het
Cd79a	A	T	7: 24,598,782 (GRCm39)	K110N	probably benign	Het
Cdh23	T	C	10: 60,148,366 (GRCm39)	D2667G	probably damaging	Het
Clpx	G	A	9: 65,224,775 (GRCm39)	G168R	probably damaging	Het
Col8a2	T	C	4: 126,205,108 (GRCm39)		probably benign	Het
Ddx27	G	A	2: 166,875,675 (GRCm39)	E669K	probably damaging	Het
Dnah8	A	T	17: 30,977,255 (GRCm39)	I2898F	probably damaging	Het
Dus2	T	C	8: 106,775,294 (GRCm39)	Y274H	probably damaging	Het
Dync2h1	A	G	9: 6,967,226 (GRCm39)	S4073P	probably damaging	Het
Dynlrb2	G	A	8: 117,241,549 (GRCm39)	R31Q	possibly damaging	Het
Esyt1	C	T	10: 128,347,820 (GRCm39)	V957I	probably benign	Het
Fhdc1	A	T	3: 84,351,868 (GRCm39)	L1119Q	probably benign	Het
H2-T10	T	C	17: 36,430,317 (GRCm39)	K212E	probably benign	Het
H60b	A	T	10: 22,162,114 (GRCm39)	N113I	probably benign	Het
Hace1	A	C	10: 45,576,721 (GRCm39)	K798Q	probably benign	Het
Hdac7	C	T	15: 97,696,151 (GRCm39)	R631H	probably damaging	Het
Kat7	T	A	11: 95,190,928 (GRCm39)	I153F	probably benign	Het
Lman1	T	C	18: 66,131,681 (GRCm39)	T101A	probably benign	Het
Mapk8	A	T	14: 33,110,893 (GRCm39)	C245*	probably null	Het
Mfhas1	T	A	8: 36,058,431 (GRCm39)	W969R	probably damaging	Het
Mlxipl	A	T	5: 135,135,853 (GRCm39)	D26V	probably damaging	Het
Msh5	A	G	17: 35,265,016 (GRCm39)	V53A	probably benign	Het
Msl2	C	A	9: 100,979,183 (GRCm39)	A519D	probably damaging	Het
Nbeal1	A	G	1: 60,245,503 (GRCm39)	S176G	probably benign	Het
Ninl	T	A	2: 150,817,763 (GRCm39)	K134*	probably null	Het
Or10d1	A	G	9: 39,484,283 (GRCm39)	S91P	probably damaging	Het
Or1e25	T	A	11: 73,494,239 (GRCm39)	Y278N	probably damaging	Het
Or4a68	C	A	2: 89,269,689 (GRCm39)	M311I	probably benign	Het
Pabpn1	T	G	14: 55,134,609 (GRCm39)	I250S	probably damaging	Het
Ppp4r4	G	A	12: 103,542,539 (GRCm39)		probably null	Het
Rad51ap2	T	C	12: 11,507,025 (GRCm39)	S316P	possibly damaging	Het
Scn7a	C	A	2: 66,567,780 (GRCm39)	W271C	probably damaging	Het
Set	T	C	2: 29,960,212 (GRCm39)	S182P	probably benign	Het
Sez6l	T	C	5: 112,620,618 (GRCm39)	T321A	possibly damaging	Het
Sfpq	A	T	4: 126,915,295 (GRCm39)	H29L	unknown	Het
Slc33a1	A	G	3: 63,855,577 (GRCm39)	L356P	probably damaging	Het
Sptbn1	C	G	11: 30,109,293 (GRCm39)		probably null	Het
Srrd	C	T	5: 112,486,316 (GRCm39)	G179D	probably benign	Het
Taf4b	T	C	18: 14,940,456 (GRCm39)	S312P	probably damaging	Het
Tgfbrap1	A	T	1: 43,093,794 (GRCm39)	L566*	probably null	Het
Tln2	T	A	9: 67,304,935 (GRCm39)	M1L	probably benign	Het
Ttc27	T	C	17: 75,163,497 (GRCm39)	F702L	probably benign	Het
Vmn2r54	C	T	7: 12,363,637 (GRCm39)	G419R	possibly damaging	Het
Vps13b	A	G	15: 35,884,887 (GRCm39)	S3187G	probably damaging	Het
Vps13d	C	A	4: 144,907,685 (GRCm39)		probably null	Het
Vps35l	T	C	7: 118,411,097 (GRCm39)	F677L	probably damaging	Het
Zfp568	A	T	7: 29,688,507 (GRCm39)	E23V	probably null	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
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
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'- TGCTACTGGAACTGAAGGGG -3'
(R):5'- ATGATGTCCGTGTACTCGTG -3'

Sequencing Primer
(F):5'- TACAACTGGGAGGTGGCCATC -3'
(R):5'- GTCCGTGTACTCGTGGTCCTTC -3'

Posted On

2014-08-25