Mutagenetix > Incidental Mutation

Incidental Mutation 'R2193:Cdca3'

238263

Institutional Source

Beutler Lab

Gene Symbol

Cdca3

Ensembl Gene

ENSMUSG00000023505

Gene Name

cell division cycle associated 3

Synonyms

TOME-1, Grcc8, 2410005A12Rik

MMRRC Submission

040195-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R2193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124806533-124810664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124808409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 69 (T69A)

Ref Sequence

ENSEMBL: ENSMUSP00000116849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024206] [ENSMUST00000024270] [ENSMUST00000047510] [ENSMUST00000122110] [ENSMUST00000131847] [ENSMUST00000151674] [ENSMUST00000150120] [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 damaging
Transcript: ENSMUST00000024270
AA Change: T69A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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 damaging
Transcript: ENSMUST00000131847
AA Change: T69A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134637

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151674
AA Change: T69A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000150120
AA Change: T69A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136692

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	T	C	7: 43,902,993 (GRCm39)	R289G	probably benign	Het
Bfar	A	G	16: 13,515,335 (GRCm39)	N183D	probably benign	Het
Ces1b	A	T	8: 93,806,505 (GRCm39)	C14S	probably benign	Het
Clcn3	T	A	8: 61,382,221 (GRCm39)	I456F	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcpp2	A	C	17: 24,119,393 (GRCm39)	D69A	probably damaging	Het
Dlgap2	T	A	8: 14,793,431 (GRCm39)	I475N	possibly damaging	Het
Dnah6	T	A	6: 73,115,623 (GRCm39)	M1592L	probably damaging	Het
Dscaml1	A	G	9: 45,596,532 (GRCm39)	Q792R	probably benign	Het
Eif2ak4	A	G	2: 118,252,747 (GRCm39)	I440V	probably benign	Het
Frrs1	T	C	3: 116,671,994 (GRCm39)	S31P	probably damaging	Het
Isoc2b	T	C	7: 4,853,823 (GRCm39)	H117R	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Klf5	C	T	14: 99,536,406 (GRCm39)		probably benign	Het
Ltn1	G	A	16: 87,224,535 (GRCm39)	S63F	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Oas1f	A	C	5: 120,989,648 (GRCm39)	T196P	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Ocln	T	C	13: 100,676,412 (GRCm39)	D27G	probably damaging	Het
Or2av9	A	T	11: 58,380,732 (GRCm39)	M283K	probably damaging	Het
Or2y17	A	G	11: 49,231,770 (GRCm39)	H137R	possibly damaging	Het
Rasgrf2	A	C	13: 92,160,221 (GRCm39)		probably null	Het
Sars2	G	T	7: 28,448,422 (GRCm39)	V268L	probably damaging	Het
Sin3a	T	A	9: 57,024,761 (GRCm39)	S1040R	possibly damaging	Het
Vps9d1	A	T	8: 123,979,404 (GRCm39)	Y39N	probably damaging	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
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
R6384:Cdca3	UTSW	6	124,809,382 (GRCm39)	missense	probably damaging	0.96
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'- ATAAAGGTCAGGGCCCAGAC -3'
(R):5'- TGGCATGCTTAAGACCTTTGG -3'

Sequencing Primer
(F):5'- CTGGGAATTGAACTCAGGACCTCTG -3'
(R):5'- GCATGCTTAAGACCTTTGGTTAAAAC -3'

Posted On

2014-10-02