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

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	5,798,449 (GRCm38)	missense	probably benign	0.07
IGL01860:Cdc123	APN	2	5,803,941 (GRCm38)	splice site	probably benign
IGL03002:Cdc123	APN	2	5,798,355 (GRCm38)	splice site	probably benign
Sinking	UTSW	2	5,798,363 (GRCm38)	missense	possibly damaging	0.82
R0563:Cdc123	UTSW	2	5,798,401 (GRCm38)	missense	probably benign
R1412:Cdc123	UTSW	2	5,803,965 (GRCm38)	missense	possibly damaging	0.80
R1584:Cdc123	UTSW	2	5,803,977 (GRCm38)	critical splice acceptor site	probably null
R1838:Cdc123	UTSW	2	5,794,891 (GRCm38)	splice site	probably null
R2064:Cdc123	UTSW	2	5,795,543 (GRCm38)	splice site	probably benign
R2144:Cdc123	UTSW	2	5,810,806 (GRCm38)	missense	probably benign	0.19
R4082:Cdc123	UTSW	2	5,810,755 (GRCm38)	intron	probably benign
R4679:Cdc123	UTSW	2	5,844,892 (GRCm38)	missense	probably damaging	1.00
R4970:Cdc123	UTSW	2	5,804,937 (GRCm38)	missense	possibly damaging	0.59
R5089:Cdc123	UTSW	2	5,805,000 (GRCm38)	missense	probably benign	0.00
R5112:Cdc123	UTSW	2	5,804,937 (GRCm38)	missense	possibly damaging	0.59
R5691:Cdc123	UTSW	2	5,823,175 (GRCm38)	missense	probably benign	0.00
R5914:Cdc123	UTSW	2	5,798,363 (GRCm38)	missense	possibly damaging	0.82
R7860:Cdc123	UTSW	2	5,803,964 (GRCm38)	missense	probably benign	0.00
R8695:Cdc123	UTSW	2	5,821,363 (GRCm38)	missense	possibly damaging	0.69
R8865:Cdc123	UTSW	2	5,795,424 (GRCm38)	intron	probably benign
R9018:Cdc123	UTSW	2	5,844,872 (GRCm38)	missense	probably benign	0.00
R9265:Cdc123	UTSW	2	5,803,954 (GRCm38)	missense	possibly damaging	0.50
Z1176:Cdc123	UTSW	2	5,804,985 (GRCm38)	missense	probably damaging	0.97

Posted On

2011-07-12