Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02490:Cdc40'

295569

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdc40

Ensembl Gene

ENSMUSG00000038446

Gene Name

cell division cycle 40

Synonyms

PRP17, EHB3, 1200003H23Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL02490

Quality Score

Status

Chromosome

Chromosomal Location

40707617-40759139 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40717767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 379 (V379I)

Ref Sequence

ENSEMBL: ENSMUSP00000044305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044166]

AlphaFold

Q9DC48

Predicted Effect

probably benign
Transcript: ENSMUST00000044166
AA Change: V379I

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044305
Gene: ENSMUSG00000038446
AA Change: V379I

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	224	238	N/A	INTRINSIC
WD40	277	317	6.04e-8	SMART
WD40	321	360	8.1e-9	SMART
WD40	363	404	1.58e-2	SMART
WD40	407	446	9.52e-6	SMART
WD40	452	489	2.13e1	SMART
WD40	495	536	1.4e-3	SMART
WD40	539	579	3.37e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216025

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D06Rik	A	G	6: 89,078,559 (GRCm39)		noncoding transcript	Het
Adam5	A	T	8: 25,271,720 (GRCm39)	Y562*	probably null	Het
Akr1d1	T	C	6: 37,535,423 (GRCm39)	V269A	probably damaging	Het
Anks4b	A	G	7: 119,773,241 (GRCm39)	T34A	probably damaging	Het
Arhgef40	A	G	14: 52,226,652 (GRCm39)	N232S	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh13	A	G	8: 119,822,062 (GRCm39)	D307G	probably damaging	Het
Ces1h	A	G	8: 94,083,627 (GRCm39)		probably null	Het
Chchd6	T	A	6: 89,361,656 (GRCm39)	H249L	possibly damaging	Het
Clxn	T	A	16: 14,734,810 (GRCm39)	V60E	probably benign	Het
Cul1	T	C	6: 47,491,820 (GRCm39)	V392A	probably damaging	Het
Cwc15	A	T	9: 14,413,320 (GRCm39)	D34V	probably damaging	Het
Cyp2c39	T	C	19: 39,527,446 (GRCm39)	I264T	probably damaging	Het
Dapk1	A	G	13: 60,897,148 (GRCm39)	D789G	probably damaging	Het
Dcdc2a	T	A	13: 25,291,635 (GRCm39)	Y207N	probably damaging	Het
Flt3	T	A	5: 147,268,106 (GRCm39)	N960Y	probably damaging	Het
Fmn1	C	T	2: 113,359,817 (GRCm39)		probably benign	Het
Foxm1	T	A	6: 128,350,314 (GRCm39)	C400*	probably null	Het
Ftmt	A	C	18: 52,464,760 (GRCm39)	R25S	probably benign	Het
Guca1b	T	C	17: 47,700,190 (GRCm39)		probably benign	Het
Hectd4	A	T	5: 121,456,676 (GRCm39)	K680N	possibly damaging	Het
Hephl1	C	A	9: 14,964,981 (GRCm39)	R1138L	probably benign	Het
Il1rl2	T	A	1: 40,395,972 (GRCm39)		probably benign	Het
Ints2	A	T	11: 86,124,009 (GRCm39)	I593K	possibly damaging	Het
Iqcg	T	A	16: 32,855,937 (GRCm39)	K213*	probably null	Het
Kif1b	T	A	4: 149,288,665 (GRCm39)	S1259C	probably benign	Het
Klc1	C	T	12: 111,748,210 (GRCm39)	T371M	possibly damaging	Het
Loxl4	T	C	19: 42,593,269 (GRCm39)	T301A	probably benign	Het
Lrrc40	T	C	3: 157,768,336 (GRCm39)	L497P	probably damaging	Het
Masp2	C	T	4: 148,692,400 (GRCm39)	R298W	possibly damaging	Het
Myo5a	A	T	9: 75,043,737 (GRCm39)	Y242F	probably damaging	Het
Nup98	A	G	7: 101,801,573 (GRCm39)	V784A	probably damaging	Het
Or5w15	T	C	2: 87,568,299 (GRCm39)	Y123C	probably damaging	Het
Osbpl1a	G	T	18: 13,015,341 (GRCm39)		probably benign	Het
Pcdh10	A	G	3: 45,334,922 (GRCm39)	Y412C	probably damaging	Het
Pfkfb2	T	A	1: 130,628,589 (GRCm39)	Y339F	probably damaging	Het
Plcb2	T	C	2: 118,550,241 (GRCm39)	N172D	probably damaging	Het
Plec	T	C	15: 76,073,463 (GRCm39)	Y517C	probably damaging	Het
Plod2	G	T	9: 92,468,895 (GRCm39)	A207S	probably benign	Het
Plxdc1	A	T	11: 97,845,604 (GRCm39)	D229E	probably benign	Het
Ppp3cb	A	G	14: 20,581,726 (GRCm39)		probably null	Het
Procr	T	C	2: 155,595,352 (GRCm39)	L52P	probably damaging	Het
Psme2b	G	T	11: 48,836,946 (GRCm39)		probably benign	Het
Rgs22	G	A	15: 36,054,993 (GRCm39)	A727V	probably damaging	Het
Rock2	T	A	12: 16,998,564 (GRCm39)	W277R	probably damaging	Het
Rpl26	A	G	11: 68,795,216 (GRCm39)	D112G	probably damaging	Het
Rxfp1	C	A	3: 79,559,474 (GRCm39)		probably null	Het
Sdr39u1	G	A	14: 56,135,798 (GRCm39)	P98L	probably damaging	Het
Sgms1	T	C	19: 32,137,543 (GRCm39)	K8E	probably damaging	Het
Stk31	T	C	6: 49,394,469 (GRCm39)	V277A	probably benign	Het
Trav15-1-dv6-1	A	C	14: 53,797,588 (GRCm39)	E79A	probably benign	Het
Ttll6	A	T	11: 96,047,546 (GRCm39)	D715V	possibly damaging	Het
Ush2a	T	C	1: 188,542,561 (GRCm39)	S3376P	probably damaging	Het
Vmn2r109	T	A	17: 20,761,246 (GRCm39)	T704S	possibly damaging	Het
Zfp27	T	A	7: 29,594,360 (GRCm39)	H535L	possibly damaging	Het
Zfp609	A	T	9: 65,611,250 (GRCm39)	V571D	possibly damaging	Het
Zfp874a	A	T	13: 67,590,819 (GRCm39)	Y288*	probably null	Het
Zfp993	T	C	4: 146,742,074 (GRCm39)	S133P	probably damaging	Het

Other mutations in Cdc40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Cdc40	APN	10	40,719,124 (GRCm39)	missense	probably damaging	1.00
IGL02333:Cdc40	APN	10	40,743,855 (GRCm39)	missense	probably benign	0.00
IGL02878:Cdc40	APN	10	40,719,118 (GRCm39)	missense	probably damaging	0.96
IGL02976:Cdc40	APN	10	40,758,917 (GRCm39)	missense	probably benign
IGL03058:Cdc40	APN	10	40,725,824 (GRCm39)	missense	probably benign	0.01
IGL03178:Cdc40	APN	10	40,723,985 (GRCm39)	missense	probably benign
R0409:Cdc40	UTSW	10	40,723,164 (GRCm39)	missense	probably damaging	0.99
R0522:Cdc40	UTSW	10	40,733,608 (GRCm39)	missense	probably benign	0.21
R0608:Cdc40	UTSW	10	40,724,048 (GRCm39)	missense	probably benign	0.15
R0730:Cdc40	UTSW	10	40,720,952 (GRCm39)	splice site	probably benign
R1712:Cdc40	UTSW	10	40,717,372 (GRCm39)	missense	probably damaging	1.00
R1940:Cdc40	UTSW	10	40,759,067 (GRCm39)	unclassified	probably benign
R4062:Cdc40	UTSW	10	40,725,848 (GRCm39)	splice site	probably null
R5035:Cdc40	UTSW	10	40,725,809 (GRCm39)	missense	probably benign	0.18
R5628:Cdc40	UTSW	10	40,727,049 (GRCm39)	missense	probably benign	0.03
R6933:Cdc40	UTSW	10	40,720,992 (GRCm39)	missense	probably damaging	0.96
R7082:Cdc40	UTSW	10	40,743,869 (GRCm39)	missense	probably benign
R7419:Cdc40	UTSW	10	40,717,439 (GRCm39)	missense	probably damaging	1.00
R7625:Cdc40	UTSW	10	40,724,048 (GRCm39)	missense	probably benign	0.15
R7834:Cdc40	UTSW	10	40,758,945 (GRCm39)	missense	probably benign	0.00
R7908:Cdc40	UTSW	10	40,724,042 (GRCm39)	missense	probably damaging	1.00
R8031:Cdc40	UTSW	10	40,728,512 (GRCm39)	missense	probably benign	0.00
R8131:Cdc40	UTSW	10	40,717,473 (GRCm39)	missense	possibly damaging	0.45
R8545:Cdc40	UTSW	10	40,723,939 (GRCm39)	missense	probably benign	0.01
R8724:Cdc40	UTSW	10	40,717,480 (GRCm39)	missense	probably damaging	1.00
R8742:Cdc40	UTSW	10	40,717,480 (GRCm39)	missense	probably damaging	1.00
R8743:Cdc40	UTSW	10	40,717,480 (GRCm39)	missense	probably damaging	1.00
R8745:Cdc40	UTSW	10	40,717,480 (GRCm39)	missense	probably damaging	1.00
R8753:Cdc40	UTSW	10	40,717,480 (GRCm39)	missense	probably damaging	1.00
R8754:Cdc40	UTSW	10	40,717,480 (GRCm39)	missense	probably damaging	1.00
R8805:Cdc40	UTSW	10	40,733,576 (GRCm39)	missense	probably damaging	1.00
R8845:Cdc40	UTSW	10	40,717,790 (GRCm39)	missense	possibly damaging	0.73
R8899:Cdc40	UTSW	10	40,717,809 (GRCm39)	nonsense	probably null
RF041:Cdc40	UTSW	10	40,719,119 (GRCm39)	missense	probably damaging	1.00
X0026:Cdc40	UTSW	10	40,717,448 (GRCm39)	nonsense	probably null

Posted On

2015-04-16