Mutagenetix > Incidental Mutation

Incidental Mutation 'R1412:Cdc123'

159622

Institutional Source

Beutler Lab

Gene Symbol

Cdc123

Ensembl Gene

ENSMUSG00000039128

Gene Name

cell division cycle 123

Synonyms

G431001I09Rik

MMRRC Submission

039468-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5799105-5849975 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5808776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 233 (D233E)

Ref Sequence

ENSEMBL: ENSMUSP00000043033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043864]

AlphaFold

Q8CII2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043864
AA Change: D233E

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043033
Gene: ENSMUSG00000039128
AA Change: D233E

Domain	Start	End	E-Value	Type
Pfam:D123	14	314	3e-107	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138312

Meta Mutation Damage Score

0.8351

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.5%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,359 (GRCm39)		probably benign	Het
Abca15	C	T	7: 119,944,546 (GRCm39)	R394C	possibly damaging	Het
Adamts9	T	C	6: 92,773,414 (GRCm39)	Q1152R	probably benign	Het
Adgrv1	C	T	13: 81,243,569 (GRCm39)	G6277E	probably damaging	Het
Agbl2	A	G	2: 90,619,298 (GRCm39)	N41S	probably benign	Het
Akap7	A	T	10: 25,165,495 (GRCm39)		probably null	Het
Arl6ip1	A	G	7: 117,719,591 (GRCm39)	I179T	possibly damaging	Het
Atp1a4	C	T	1: 172,059,576 (GRCm39)	D839N	probably damaging	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
C1qtnf12	T	C	4: 156,047,190 (GRCm39)	V52A	probably benign	Het
C1qtnf2	A	G	11: 43,381,959 (GRCm39)	Y257C	probably damaging	Het
Chdh	G	A	14: 29,756,680 (GRCm39)	E369K	probably benign	Het
D630045J12Rik	A	G	6: 38,172,695 (GRCm39)	V491A	probably benign	Het
Focad	T	C	4: 88,196,498 (GRCm39)		probably null	Het
Gabbr1	T	C	17: 37,365,805 (GRCm39)		probably null	Het
Hat1	G	T	2: 71,250,961 (GRCm39)	E170*	probably null	Het
Hs3st5	A	T	10: 36,708,672 (GRCm39)	H69L	probably benign	Het
Igsf10	T	C	3: 59,235,196 (GRCm39)		probably benign	Het
Itga2b	A	T	11: 102,347,831 (GRCm39)	L890Q	probably benign	Het
Or52e8b	A	G	7: 104,673,402 (GRCm39)	F262L	probably damaging	Het
Or7d11	C	G	9: 19,966,711 (GRCm39)	G16A	possibly damaging	Het
Parp10	A	G	15: 76,127,284 (GRCm39)	L51P	probably damaging	Het
Pbld2	A	G	10: 62,883,301 (GRCm39)	T108A	probably damaging	Het
Pdlim2	A	T	14: 70,411,773 (GRCm39)		probably benign	Het
Pikfyve	T	C	1: 65,241,989 (GRCm39)	V243A	possibly damaging	Het
Pla2g12b	G	A	10: 59,239,804 (GRCm39)		probably null	Het
Raly	A	G	2: 154,699,315 (GRCm39)	T40A	possibly damaging	Het
Rasgrp3	G	T	17: 75,816,822 (GRCm39)		probably null	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Smim22	G	C	16: 4,825,649 (GRCm39)	E11D	possibly damaging	Het
Socs2	T	C	10: 95,250,780 (GRCm39)	S18G	probably benign	Het
Srgap2	T	C	1: 131,228,151 (GRCm39)	E720G	possibly damaging	Het
Tas2r135	A	G	6: 42,382,768 (GRCm39)	I102M	probably benign	Het
Tex19.2	A	G	11: 121,007,761 (GRCm39)	V229A	possibly damaging	Het
Vmn1r234	T	A	17: 21,449,512 (GRCm39)	I142N	probably benign	Het
Vps35l	A	T	7: 118,409,194 (GRCm39)	I612F	probably damaging	Het
Vwa3a	C	T	7: 120,379,377 (GRCm39)	T494I	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Zfhx3	A	G	8: 109,641,199 (GRCm39)	D1166G	possibly damaging	Het

Other mutations in Cdc123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Cdc123	APN	2	5,809,746 (GRCm39)	missense	probably benign	0.01
IGL00422:Cdc123	APN	2	5,803,260 (GRCm39)	missense	probably benign	0.07
IGL01860:Cdc123	APN	2	5,808,752 (GRCm39)	splice site	probably benign
IGL03002:Cdc123	APN	2	5,803,166 (GRCm39)	splice site	probably benign
Sinking	UTSW	2	5,803,174 (GRCm39)	missense	possibly damaging	0.82
R0563:Cdc123	UTSW	2	5,803,212 (GRCm39)	missense	probably benign
R1584:Cdc123	UTSW	2	5,808,788 (GRCm39)	critical splice acceptor site	probably null
R1838:Cdc123	UTSW	2	5,799,702 (GRCm39)	splice site	probably null
R2064:Cdc123	UTSW	2	5,800,354 (GRCm39)	splice site	probably benign
R2144:Cdc123	UTSW	2	5,815,617 (GRCm39)	missense	probably benign	0.19
R4082:Cdc123	UTSW	2	5,815,566 (GRCm39)	intron	probably benign
R4679:Cdc123	UTSW	2	5,849,703 (GRCm39)	missense	probably damaging	1.00
R4970:Cdc123	UTSW	2	5,809,748 (GRCm39)	missense	possibly damaging	0.59
R5089:Cdc123	UTSW	2	5,809,811 (GRCm39)	missense	probably benign	0.00
R5112:Cdc123	UTSW	2	5,809,748 (GRCm39)	missense	possibly damaging	0.59
R5691:Cdc123	UTSW	2	5,827,986 (GRCm39)	missense	probably benign	0.00
R5914:Cdc123	UTSW	2	5,803,174 (GRCm39)	missense	possibly damaging	0.82
R7860:Cdc123	UTSW	2	5,808,775 (GRCm39)	missense	probably benign	0.00
R8695:Cdc123	UTSW	2	5,826,174 (GRCm39)	missense	possibly damaging	0.69
R8865:Cdc123	UTSW	2	5,800,235 (GRCm39)	intron	probably benign
R9018:Cdc123	UTSW	2	5,849,683 (GRCm39)	missense	probably benign	0.00
R9265:Cdc123	UTSW	2	5,808,765 (GRCm39)	missense	possibly damaging	0.50
Z1176:Cdc123	UTSW	2	5,809,796 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCTGGAGCTAAATTCACCAAAGCAAG -3'
(R):5'- TTCCTCTGCCCATGCAAGCAAC -3'

Sequencing Primer
(F):5'- GCACACTGAATTTATTCATGCTGG -3'
(R):5'- gcagccgtcctcctacc -3'

Posted On

2014-03-14