Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00159:Cdc123'

1924

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdc123

Ensembl Gene

ENSMUSG00000039128

Gene Name

cell division cycle 123

Synonyms

G431001I09Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00159

Quality Score

Status

Chromosome

Chromosomal Location

5794294-5845164 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5804935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 222 (Q222K)

Ref Sequence

ENSEMBL: ENSMUSP00000043033 (fasta)

Gene Model

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

AlphaFold

Q8CII2

Predicted Effect

probably benign
Transcript: ENSMUST00000043864
AA Change: Q222K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000043033
Gene: ENSMUSG00000039128
AA Change: Q222K

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

probably benign
Transcript: ENSMUST00000128467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138312

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	G	A	7: 118,797,047		probably null	Het
Axin1	A	T	17: 26,142,805	D41V	possibly damaging	Het
BC034090	C	A	1: 155,225,451	E718*	probably null	Het
Clip1	A	C	5: 123,603,654	V1053G	possibly damaging	Het
Dock7	T	A	4: 99,063,985	E416V	probably damaging	Het
Dydc1	T	C	14: 41,087,413	L143P	probably damaging	Het
Dync2h1	A	G	9: 7,158,839	V732A	probably benign	Het
Dzip1l	T	A	9: 99,637,777	L119Q	probably damaging	Het
Erp27	T	A	6: 136,909,502	S178C	probably damaging	Het
Fbn1	A	G	2: 125,397,873	V298A	probably benign	Het
Fbxo34	A	G	14: 47,529,474	H97R	probably damaging	Het
Gm20521	C	T	14: 54,884,622	Q81*	probably null	Het
Gspt1	T	C	16: 11,222,612	M610V	probably damaging	Het
Herc1	A	G	9: 66,437,682	Q1919R	possibly damaging	Het
Il19	A	G	1: 130,935,055		probably benign	Het
Kif14	G	A	1: 136,469,018	S354N	probably benign	Het
Lrrk2	A	G	15: 91,747,799	K1309E	possibly damaging	Het
Lurap1	T	C	4: 116,137,690	T115A	probably damaging	Het
Myo18b	G	T	5: 112,874,131	T465K	probably benign	Het
Nwd1	A	T	8: 72,671,077	D648V	probably damaging	Het
Olfr272	T	G	4: 52,911,618	M59L	possibly damaging	Het
Olfr520	G	A	7: 99,735,317	R58H	probably benign	Het
Otof	T	C	5: 30,375,904	Y1527C	probably damaging	Het
Otop3	G	A	11: 115,344,397	C285Y	probably damaging	Het
Parp3	A	G	9: 106,471,387	I478T	probably benign	Het
Pdzd2	C	T	15: 12,457,983	E265K	possibly damaging	Het
Pik3c2g	T	C	6: 139,896,125	L634P	probably damaging	Het
Prkg1	C	A	19: 31,302,340	V165L	probably benign	Het
Riok3	A	G	18: 12,148,891	I306V	possibly damaging	Het
Ror2	T	C	13: 53,113,082	D439G	probably benign	Het
Scn2a	T	A	2: 65,743,090	I1428N	probably damaging	Het
Sgcg	C	T	14: 61,232,475	D146N	probably benign	Het
Slc16a9	A	G	10: 70,282,699	R283G	probably benign	Het
Sptb	T	C	12: 76,621,331	D664G	probably benign	Het
Tmprss3	T	A	17: 31,195,008	D54V	probably damaging	Het
Ttc37	T	C	13: 76,143,278		probably null	Het
Tubd1	G	T	11: 86,565,729	V374F	probably benign	Het
Vmn2r57	A	T	7: 41,428,785	M83K	probably benign	Het
Vps13c	A	G	9: 67,945,999	E2458G	probably benign	Het
Zhx2	A	T	15: 57,822,870	E545V	probably damaging	Het

Other mutations in Cdc123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Cdc123	APN	2	5798449	missense	probably benign	0.07
IGL01860:Cdc123	APN	2	5803941	splice site	probably benign
IGL03002:Cdc123	APN	2	5798355	splice site	probably benign
Sinking	UTSW	2	5798363	missense	possibly damaging	0.82
R0563:Cdc123	UTSW	2	5798401	missense	probably benign
R1412:Cdc123	UTSW	2	5803965	missense	possibly damaging	0.80
R1584:Cdc123	UTSW	2	5803977	critical splice acceptor site	probably null
R1838:Cdc123	UTSW	2	5794891	splice site	probably null
R2064:Cdc123	UTSW	2	5795543	splice site	probably benign
R2144:Cdc123	UTSW	2	5810806	missense	probably benign	0.19
R4082:Cdc123	UTSW	2	5810755	intron	probably benign
R4679:Cdc123	UTSW	2	5844892	missense	probably damaging	1.00
R4970:Cdc123	UTSW	2	5804937	missense	possibly damaging	0.59
R5089:Cdc123	UTSW	2	5805000	missense	probably benign	0.00
R5112:Cdc123	UTSW	2	5804937	missense	possibly damaging	0.59
R5691:Cdc123	UTSW	2	5823175	missense	probably benign	0.00
R5914:Cdc123	UTSW	2	5798363	missense	possibly damaging	0.82
R7860:Cdc123	UTSW	2	5803964	missense	probably benign	0.00
R8695:Cdc123	UTSW	2	5821363	missense	possibly damaging	0.69
R8865:Cdc123	UTSW	2	5795424	intron	probably benign
R9018:Cdc123	UTSW	2	5844872	missense	probably benign	0.00
R9265:Cdc123	UTSW	2	5803954	missense	possibly damaging	0.50
Z1176:Cdc123	UTSW	2	5804985	missense	probably damaging	0.97

Posted On

2011-07-12