Mutagenetix > Incidental Mutation

Incidental Mutation 'R6384:Cdca3'

515499

Institutional Source

Beutler Lab

Gene Symbol

Cdca3

Ensembl Gene

ENSMUSG00000023505

Gene Name

cell division cycle associated 3

Synonyms

TOME-1, Grcc8, 2410005A12Rik

MMRRC Submission

044533-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.434) question?

Stock #

R6384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124806533-124810664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124809382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 174 (P174L)

Ref Sequence

ENSEMBL: ENSMUSP00000120626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024206] [ENSMUST00000024270] [ENSMUST00000047510] [ENSMUST00000122110] [ENSMUST00000131847] [ENSMUST00000150120] [ENSMUST00000151674] [ENSMUST00000153306] [ENSMUST00000142058]

AlphaFold

Q99M54

Predicted Effect

probably benign
Transcript: ENSMUST00000024206

SMART Domains

Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439

Domain	Start	End	E-Value	Type
WD40	44	83	4.91e-8	SMART
WD40	86	125	1.61e-3	SMART
WD40	132	170	5.1e-6	SMART
WD40	173	212	3.99e-8	SMART
WD40	215	254	2.67e-9	SMART
WD40	263	298	2e-1	SMART
WD40	301	340	3.87e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000024270
AA Change: P174L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000047510

SMART Domains

Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Blast:ZnF_UBP	29	78	4e-19	BLAST
ZnF_UBP	198	253	6.47e-27	SMART
low complexity region	497	516	N/A	INTRINSIC
UBA	656	694	3.12e-7	SMART
UBA	724	761	8.63e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122110

SMART Domains

Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Blast:ZnF_UBP	29	78	4e-19	BLAST
ZnF_UBP	198	253	6.47e-27	SMART
low complexity region	497	516	N/A	INTRINSIC
UBA	633	671	3.12e-7	SMART
UBA	701	738	8.63e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129251

Predicted Effect

probably benign
Transcript: ENSMUST00000131847
AA Change: P174L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134637

Predicted Effect

probably benign
Transcript: ENSMUST00000150120
AA Change: P174L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably damaging
Transcript: ENSMUST00000151674
AA Change: P174L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140233

Predicted Effect

probably benign
Transcript: ENSMUST00000153306

SMART Domains

Protein: ENSMUSP00000118200
Gene: ENSMUSG00000038429

Domain	Start	End	E-Value	Type
Blast:ZnF_UBP	1	32	3e-7	BLAST
ZnF_UBP	152	207	6.47e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142058

SMART Domains

Protein: ENSMUSP00000117439
Gene: ENSMUSG00000038429

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Blast:ZnF_UBP	29	78	4e-20	BLAST
ZnF_UBP	180	235	6.47e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136692

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,790,066 (GRCm39)	T97S	probably benign	Het
Adam34	T	A	8: 44,103,836 (GRCm39)	D603V	probably benign	Het
Adamts5	C	T	16: 85,659,716 (GRCm39)	V859I	probably benign	Het
Alb	T	A	5: 90,620,499 (GRCm39)	D536E	possibly damaging	Het
Amz2	A	G	11: 109,319,860 (GRCm39)	Y82C	probably damaging	Het
Asxl1	T	C	2: 153,233,744 (GRCm39)		probably null	Het
Bach1	C	T	16: 87,516,745 (GRCm39)	Q429*	probably null	Het
Bcl6	A	G	16: 23,793,615 (GRCm39)	Y111H	probably damaging	Het
Ccnj	T	C	19: 40,834,451 (GRCm39)	V338A	probably benign	Het
Cdk17	T	C	10: 93,047,827 (GRCm39)	L25P	probably damaging	Het
Cdr2	G	A	7: 120,581,351 (GRCm39)		probably null	Het
Cyp2c38	A	T	19: 39,380,737 (GRCm39)		probably null	Het
Ednra	T	C	8: 78,415,723 (GRCm39)	N175D	probably damaging	Het
Elp3	T	C	14: 65,797,660 (GRCm39)	Y337C	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Eps15l1	A	T	8: 73,122,554 (GRCm39)		probably null	Het
F11r	A	G	1: 171,288,508 (GRCm39)	N117S	probably benign	Het
Foxp2	C	T	6: 15,437,947 (GRCm39)	T716I	probably damaging	Het
Gnaq	A	G	19: 16,293,377 (GRCm39)		probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpr158	T	C	2: 21,831,099 (GRCm39)	M733T	probably damaging	Het
Hdac7	G	A	15: 97,709,387 (GRCm39)	Q48*	probably null	Het
Hmga2	G	A	10: 120,206,612 (GRCm39)		probably benign	Het
Itgb7	A	G	15: 102,132,886 (GRCm39)	V142A	probably benign	Het
Kif5a	T	C	10: 127,078,644 (GRCm39)	N334D	probably damaging	Het
Lrrc47	T	C	4: 154,100,317 (GRCm39)	S298P	probably benign	Het
Map3k1	A	T	13: 111,887,064 (GRCm39)	S1415R	probably damaging	Het
Mdn1	T	A	4: 32,670,607 (GRCm39)	L424Q	probably damaging	Het
Numb	A	C	12: 83,850,748 (GRCm39)	L154R	probably damaging	Het
Or8g27	T	C	9: 39,129,274 (GRCm39)	V207A	probably benign	Het
Or8k30	A	G	2: 86,339,381 (GRCm39)	K193E	probably benign	Het
Pdcd5	G	T	7: 35,346,334 (GRCm39)	A92E	possibly damaging	Het
Pdcl2	C	T	5: 76,478,855 (GRCm39)		probably null	Het
Rbfa	T	C	18: 80,235,996 (GRCm39)	Y251C	probably damaging	Het
Rgsl1	G	A	1: 153,703,291 (GRCm39)	T120I	possibly damaging	Het
Serpina3g	A	G	12: 104,206,655 (GRCm39)	Q152R	probably null	Het
Setx	T	C	2: 29,063,570 (GRCm39)	S2289P	probably damaging	Het
Slc6a16	A	G	7: 44,907,017 (GRCm39)		probably null	Het
Slco1a6	C	T	6: 142,055,105 (GRCm39)	D280N	probably benign	Het
Syde2	T	A	3: 145,704,568 (GRCm39)	Y240N	probably damaging	Het
Synpo2	G	A	3: 122,906,698 (GRCm39)	Q873*	probably null	Het
Tlr2	A	G	3: 83,744,301 (GRCm39)	V594A	probably benign	Het
Ttc16	C	T	2: 32,657,561 (GRCm39)	A512T	probably damaging	Het
Tubb5	T	C	17: 36,148,938 (GRCm39)	E3G	probably damaging	Het
Vmn2r112	T	C	17: 22,824,136 (GRCm39)	Y464H	probably damaging	Het
Xcr1	T	A	9: 123,684,847 (GRCm39)	H305L	probably damaging	Het
Yars1	T	G	4: 129,090,771 (GRCm39)		probably null	Het

Other mutations in Cdca3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02535:Cdca3	APN	6	124,807,521 (GRCm39)	missense	probably damaging	1.00
R0206:Cdca3	UTSW	6	124,809,514 (GRCm39)	unclassified	probably benign
R2193:Cdca3	UTSW	6	124,808,409 (GRCm39)	missense	probably damaging	1.00
R2975:Cdca3	UTSW	6	124,807,616 (GRCm39)	splice site	probably null
R4720:Cdca3	UTSW	6	124,809,127 (GRCm39)	missense	probably damaging	0.97
R6275:Cdca3	UTSW	6	124,809,627 (GRCm39)	splice site	probably null
R7376:Cdca3	UTSW	6	124,809,538 (GRCm39)	missense	probably benign
R9716:Cdca3	UTSW	6	124,809,172 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATCGATTTCCTCCCCAGAGC -3'
(R):5'- CCTAGAACCTTGCTGTTTGC -3'

Sequencing Primer
(F):5'- CGGGAAACGCCTTTATTTTATGACC -3'
(R):5'- AGAACCTTGCTGTTTGCTTTTCG -3'

Posted On

2018-05-04