Mutagenetix > Incidental Mutations

Incidental Mutation 'R8031:Cdc40'

617959

Institutional Source

Beutler Lab

Gene Symbol

Cdc40

Ensembl Gene

ENSMUSG00000038446

Gene Name

cell division cycle 40

Synonyms

PRP17, 1200003H23Rik, EHB3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R8031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40831621-40883311 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40852516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 157 (E157D)

Ref Sequence

ENSEMBL: ENSMUSP00000044305 (fasta)

Gene Model

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

AlphaFold

Q9DC48

Predicted Effect

probably benign
Transcript: ENSMUST00000044166
AA Change: E157D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000044305
Gene: ENSMUSG00000038446
AA Change: E157D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,998,098		probably null	Het
Arhgdib	A	G	6: 136,924,276	Y152H	probably benign	Het
Atxn10	T	G	15: 85,393,393	S354A	probably benign	Het
Cacng6	T	C	7: 3,424,885	V75A	possibly damaging	Het
Cdc23	A	G	18: 34,651,688	V7A	unknown	Het
Defa25	T	A	8: 21,085,237	N77K	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Efcab6	T	C	15: 83,983,498	K260E	possibly damaging	Het
Eif4a3	T	C	11: 119,288,905	Y352C	probably damaging	Het
Erc2	A	T	14: 28,011,692	K566N	probably damaging	Het
Fam3b	A	C	16: 97,481,852	Y74*	probably null	Het
Flg2	T	A	3: 93,220,214	S2144R	unknown	Het
Fmo4	G	T	1: 162,798,852	S375*	probably null	Het
Fsip2	A	G	2: 82,986,891	T4323A	probably benign	Het
Gm11639	T	C	11: 104,881,469	V2659A	possibly damaging	Het
Gm16503	A	T	4: 147,541,310	H87L	unknown	Het
Hes7	C	T	11: 69,122,765	A150V	probably damaging	Het
Hk1	T	A	10: 62,296,699	N190I	probably benign	Het
Il17rc	A	G	6: 113,482,821	D576G	probably damaging	Het
Inhba	T	A	13: 16,026,275	S141T	possibly damaging	Het
Itga8	G	T	2: 12,155,486	D840E	probably benign	Het
Kazn	T	C	4: 142,154,551	E126G		Het
Kcnk13	A	G	12: 99,966,179	Y78C	probably damaging	Het
Kcnt1	C	A	2: 25,908,042		probably benign	Het
Krt42	G	C	11: 100,265,039	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,780,091	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,216,921	R585G	probably benign	Het
Ntrk2	T	C	13: 58,874,379	I416T	probably benign	Het
Olfr1080	G	A	2: 86,554,103	T7I	probably damaging	Het
Olfr1217	A	T	2: 89,023,628	I125N	probably damaging	Het
Olfr177	T	C	16: 58,872,691	N153S	probably benign	Het
Olfr652	T	A	7: 104,565,109	I296N	probably damaging	Het
P4ha3	A	G	7: 100,292,698	E106G	probably damaging	Het
Pcif1	A	G	2: 164,886,522	N233S	probably damaging	Het
Pgm2l1	C	A	7: 100,272,418	R619S	probably damaging	Het
Pkhd1l1	A	G	15: 44,512,834	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,901,213	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,174,088	A306T	probably benign	Het
Psmd4	T	C	3: 95,035,892	D67G	probably damaging	Het
Ptprt	G	A	2: 162,135,457	T307I	probably damaging	Het
Rnf213	C	A	11: 119,430,281	C1188*	probably null	Het
Ror2	C	T	13: 53,113,157	C426Y	probably damaging	Het
Sacs	C	T	14: 61,204,191	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,421,505	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,350,603	A340T	probably benign	Het
Smarca5	A	T	8: 80,704,682	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,326,489	M626I	probably benign	Het
Spink5	T	A	18: 44,010,236	D753E	probably benign	Het
Taf1d	T	G	9: 15,310,399	I226S	probably damaging	Het
Tmem225	A	G	9: 40,149,393	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,501,419	K303E	probably damaging	Het
Ube2n	C	T	10: 95,541,382	R70C	probably benign	Het
Ubl7	C	T	9: 57,923,206	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,637,181	M191K	probably damaging	Het
Vmn2r103	C	T	17: 19,793,497	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,042,786	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,986,481	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,954,867	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,330,630	I1121N	not run	Het
Zfp235	T	A	7: 24,141,689	V511E	probably benign	Het

Other mutations in Cdc40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Cdc40	APN	10	40843128	missense	probably damaging	1.00
IGL02333:Cdc40	APN	10	40867859	missense	probably benign	0.00
IGL02490:Cdc40	APN	10	40841771	missense	probably benign	0.39
IGL02878:Cdc40	APN	10	40843122	missense	probably damaging	0.96
IGL02976:Cdc40	APN	10	40882921	missense	probably benign
IGL03058:Cdc40	APN	10	40849828	missense	probably benign	0.01
IGL03178:Cdc40	APN	10	40847989	missense	probably benign
R0409:Cdc40	UTSW	10	40847168	missense	probably damaging	0.99
R0522:Cdc40	UTSW	10	40857612	missense	probably benign	0.21
R0608:Cdc40	UTSW	10	40848052	missense	probably benign	0.15
R0730:Cdc40	UTSW	10	40844956	splice site	probably benign
R1712:Cdc40	UTSW	10	40841376	missense	probably damaging	1.00
R1940:Cdc40	UTSW	10	40883071	unclassified	probably benign
R4062:Cdc40	UTSW	10	40849852	splice site	probably null
R5035:Cdc40	UTSW	10	40849813	missense	probably benign	0.18
R5628:Cdc40	UTSW	10	40851053	missense	probably benign	0.03
R6933:Cdc40	UTSW	10	40844996	missense	probably damaging	0.96
R7082:Cdc40	UTSW	10	40867873	missense	probably benign
R7419:Cdc40	UTSW	10	40841443	missense	probably damaging	1.00
R7625:Cdc40	UTSW	10	40848052	missense	probably benign	0.15
R7834:Cdc40	UTSW	10	40882949	missense	probably benign	0.00
R7908:Cdc40	UTSW	10	40848046	missense	probably damaging	1.00
R8131:Cdc40	UTSW	10	40841477	missense	possibly damaging	0.45
R8545:Cdc40	UTSW	10	40847943	missense	probably benign	0.01
R8724:Cdc40	UTSW	10	40841484	missense	probably damaging	1.00
R8742:Cdc40	UTSW	10	40841484	missense	probably damaging	1.00
R8743:Cdc40	UTSW	10	40841484	missense	probably damaging	1.00
R8745:Cdc40	UTSW	10	40841484	missense	probably damaging	1.00
R8753:Cdc40	UTSW	10	40841484	missense	probably damaging	1.00
R8754:Cdc40	UTSW	10	40841484	missense	probably damaging	1.00
R8805:Cdc40	UTSW	10	40857580	missense	probably damaging	1.00
R8845:Cdc40	UTSW	10	40841794	missense	possibly damaging	0.73
R8899:Cdc40	UTSW	10	40841813	nonsense	probably null
RF041:Cdc40	UTSW	10	40843123	missense	probably damaging	1.00
X0026:Cdc40	UTSW	10	40841452	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGTGCGCTGTGAGCAGTAC -3'
(R):5'- GAGTCTTTCATGGTCCAACCTG -3'

Sequencing Primer
(F):5'- GCTGTGAGCAGTACTGTCCTAAAC -3'
(R):5'- TCCAACCTGACACGTGGGTTAAG -3'

Posted On

2020-01-23