Mutagenetix > Incidental Mutation

Incidental Mutation 'R1712:Cdc40'

190683

Institutional Source

Beutler Lab

Gene Symbol

Cdc40

Ensembl Gene

ENSMUSG00000038446

Gene Name

cell division cycle 40

Synonyms

PRP17, EHB3, 1200003H23Rik

MMRRC Submission

039745-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R1712 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40707617-40759139 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40717372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 440 (K440E)

Ref Sequence

ENSEMBL: ENSMUSP00000044305 (fasta)

Gene Model

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

AlphaFold

Q9DC48

Predicted Effect

probably damaging
Transcript: ENSMUST00000044166
AA Change: K440E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044305
Gene: ENSMUSG00000038446
AA Change: K440E

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,678,448 (GRCm39)	E12D	probably damaging	Het
Ahnak2	C	A	12: 112,748,998 (GRCm39)	R283L	probably benign	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
C1galt1	A	G	6: 7,871,217 (GRCm39)	N351S	probably benign	Het
Ccdc162	T	C	10: 41,415,427 (GRCm39)	R2179G	probably benign	Het
Ccdc88c	G	A	12: 100,905,284 (GRCm39)	T1108M	probably benign	Het
Cd47	T	C	16: 49,714,543 (GRCm39)	L184P	probably damaging	Het
Cenpe	G	A	3: 134,971,694 (GRCm39)	V2262I	probably damaging	Het
Cep290	A	G	10: 100,390,361 (GRCm39)	K2035E	probably benign	Het
Cks1brt	G	T	8: 85,898,172 (GRCm39)	L8F	probably benign	Het
Col17a1	T	C	19: 47,637,442 (GRCm39)		probably benign	Het
Coro6	A	T	11: 77,360,293 (GRCm39)	N421I	probably benign	Het
Cps1	T	C	1: 67,269,440 (GRCm39)	S1480P	probably damaging	Het
Csrnp3	G	T	2: 65,832,826 (GRCm39)	A110S	probably damaging	Het
Cyp2d10	G	T	15: 82,287,240 (GRCm39)	T461K	probably damaging	Het
Dmxl2	A	G	9: 54,308,769 (GRCm39)	V1994A	probably benign	Het
Dnah11	T	A	12: 118,160,379 (GRCm39)	N117I	probably benign	Het
Dnajc3	A	G	14: 119,195,307 (GRCm39)	Y74C	probably damaging	Het
Fam13c	T	A	10: 70,390,403 (GRCm39)	F555I	possibly damaging	Het
Fbn1	T	A	2: 125,188,354 (GRCm39)	D1495V	probably damaging	Het
Fbrsl1	T	C	5: 110,595,862 (GRCm39)	T58A	probably benign	Het
Gjd3	A	G	11: 102,691,706 (GRCm39)	I99T	possibly damaging	Het
Glce	T	C	9: 61,977,857 (GRCm39)	N9S	probably damaging	Het
Gosr1	T	C	11: 76,641,704 (GRCm39)	T125A	possibly damaging	Het
Ifi27l2a	T	A	12: 103,406,202 (GRCm39)		probably null	Het
Jph1	C	T	1: 17,167,456 (GRCm39)	D125N	possibly damaging	Het
Kbtbd12	A	T	6: 88,595,676 (GRCm39)	S51R	probably damaging	Het
Klra9	A	T	6: 130,166,659 (GRCm39)		probably null	Het
Kmo	A	T	1: 175,484,289 (GRCm39)	M340L	probably benign	Het
Lama1	T	C	17: 68,024,181 (GRCm39)	I93T	possibly damaging	Het
Limk2	A	T	11: 3,308,104 (GRCm39)		probably null	Het
Mgat5	C	A	1: 127,248,375 (GRCm39)	N92K	probably benign	Het
Mib2	T	A	4: 155,739,256 (GRCm39)	I908F	probably damaging	Het
Mical1	T	G	10: 41,356,359 (GRCm39)	L304R	probably damaging	Het
Mtbp	G	T	15: 55,434,690 (GRCm39)		probably null	Het
Myo3a	T	C	2: 22,455,004 (GRCm39)	Y70H	probably damaging	Het
Neb	T	C	2: 52,133,401 (GRCm39)	Y3379C	probably damaging	Het
Neurod2	G	T	11: 98,218,029 (GRCm39)	N378K	probably damaging	Het
Oog4	G	A	4: 143,166,484 (GRCm39)	L107F	probably damaging	Het
Or2g25	A	G	17: 37,970,799 (GRCm39)	S142P	probably benign	Het
Or4k40	T	A	2: 111,251,003 (GRCm39)	M98L	probably benign	Het
Or6x1	A	G	9: 40,099,161 (GRCm39)	Y250C	probably damaging	Het
Or8k20	T	A	2: 86,106,337 (GRCm39)	T165S	probably damaging	Het
Pfdn6	T	C	17: 34,158,528 (GRCm39)	Y82C	probably damaging	Het
Pla2g4d	C	A	2: 120,107,971 (GRCm39)	A313S	possibly damaging	Het
Ptcd3	C	A	6: 71,885,637 (GRCm39)	E30*	probably null	Het
Rai1	A	G	11: 60,078,428 (GRCm39)	T831A	probably benign	Het
Rims1	G	A	1: 22,367,172 (GRCm39)	T1176M	probably damaging	Het
Rin1	A	C	19: 5,105,171 (GRCm39)	I744L	probably benign	Het
Rora	T	A	9: 69,282,771 (GRCm39)	S430T	probably benign	Het
Rsph10b	T	A	5: 143,873,967 (GRCm39)	S23T	probably damaging	Het
Ryr1	T	C	7: 28,746,928 (GRCm39)	N3773S	probably benign	Het
Scn4a	A	G	11: 106,230,180 (GRCm39)	Y543H	probably damaging	Het
Scn4a	C	A	11: 106,236,373 (GRCm39)	G296C	probably benign	Het
Scn7a	T	C	2: 66,535,447 (GRCm39)	T435A	probably benign	Het
Shank2	G	T	7: 143,964,890 (GRCm39)	D833Y	probably damaging	Het
Slc9a2	T	C	1: 40,802,770 (GRCm39)	S607P	possibly damaging	Het
Slx4	G	A	16: 3,809,458 (GRCm39)	R346W	probably damaging	Het
Spata20	A	T	11: 94,371,340 (GRCm39)	C675S	probably benign	Het
Suclg2	A	T	6: 95,563,997 (GRCm39)	I196N	probably damaging	Het
Sv2b	G	A	7: 74,798,807 (GRCm39)	H272Y	possibly damaging	Het
Svep1	T	C	4: 58,070,629 (GRCm39)	I2386V	probably benign	Het
Taf13	A	T	3: 108,488,445 (GRCm39)	E109D	possibly damaging	Het
Tanc2	A	G	11: 105,790,606 (GRCm39)	T976A	probably benign	Het
Tax1bp1	A	G	6: 52,706,311 (GRCm39)	Y104C	probably damaging	Het
Tfeb	T	C	17: 48,099,911 (GRCm39)		probably null	Het
Tlr9	T	C	9: 106,101,248 (GRCm39)	Y180H	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttc12	T	A	9: 49,356,499 (GRCm39)	T510S	probably benign	Het
Ubqln1	T	C	13: 58,339,895 (GRCm39)	E280G	probably damaging	Het
Urm1	T	C	2: 29,731,437 (GRCm39)	W44R	probably damaging	Het
Usp32	A	T	11: 84,933,406 (GRCm39)	I34N	probably benign	Het
Vars1	T	C	17: 35,233,728 (GRCm39)	L1018P	probably damaging	Het
Vcan	A	T	13: 89,869,894 (GRCm39)	V206D	probably damaging	Het
Vim	T	C	2: 13,583,270 (GRCm39)	V224A	probably damaging	Het
Vmn2r106	G	T	17: 20,498,997 (GRCm39)	H305N	probably benign	Het
Vmn2r78	A	G	7: 86,604,132 (GRCm39)	N770S	probably damaging	Het
Wdr33	T	A	18: 32,029,684 (GRCm39)	L961Q	unknown	Het
Xylt2	A	G	11: 94,559,575 (GRCm39)	S356P	possibly damaging	Het
Zbtb14	A	G	17: 69,694,575 (GRCm39)	N91S	probably damaging	Het
Zc3h6	T	C	2: 128,858,654 (GRCm39)	L895S	probably damaging	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfp131	T	C	13: 120,228,079 (GRCm39)	T523A	probably benign	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
IGL02490:Cdc40	APN	10	40,717,767 (GRCm39)	missense	probably benign	0.39
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
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

Predicted Primers

PCR Primer
(F):5'- GGATCTGACACCCTTACACCAATGC -3'
(R):5'- GTCCACTCTGGTTGCGCTAAGAAG -3'

Sequencing Primer
(F):5'- caacaacaatgacgacaacaac -3'
(R):5'- AGGTAGCAGTCAGTTCATAACC -3'

Posted On

2014-05-14