Mutagenetix > Incidental Mutation

Incidental Mutation 'R6275:Cdca3'

507574

Institutional Source

Beutler Lab

Gene Symbol

Cdca3

Ensembl Gene

ENSMUSG00000023505

Gene Name

cell division cycle associated 3

Synonyms

TOME-1, Grcc8, 2410005A12Rik

MMRRC Submission

044445-MU

Accession Numbers

Essential gene?

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

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124806533-124810664 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 124809627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116849 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000024270
AA Change: R214*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134637

Predicted Effect

probably null
Transcript: ENSMUST00000150120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136692

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

noncoding transcript
Transcript: ENSMUST00000140233

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

probably benign
Transcript: ENSMUST00000151674

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,833,625 (GRCm39)	L30H	probably damaging	Het
Abcb6	T	C	1: 75,149,195 (GRCm39)		probably null	Het
Acsbg1	T	A	9: 54,517,056 (GRCm39)	M586L	probably benign	Het
Ano6	A	T	15: 95,811,314 (GRCm39)	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,830,575 (GRCm39)	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,531,519 (GRCm39)	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,036,489 (GRCm39)	M144I	probably damaging	Het
Ces1h	A	T	8: 94,099,274 (GRCm39)	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216 (GRCm39)	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,440,859 (GRCm39)	P126T	probably benign	Het
Dnah10	A	G	5: 124,862,248 (GRCm39)	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,269,311 (GRCm39)	N1147Y	possibly damaging	Het
Eif1ad15	T	C	12: 88,287,995 (GRCm39)	D86G	possibly damaging	Het
Eif1ad16	T	C	12: 87,985,255 (GRCm39)	N96S	probably benign	Het
Ermap	C	T	4: 119,035,747 (GRCm39)	V414M	probably damaging	Het
Fam13a	A	G	6: 58,931,242 (GRCm39)	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,896,153 (GRCm39)	H155R	possibly damaging	Het
Folr1	T	A	7: 101,508,742 (GRCm39)	N61I	probably damaging	Het
Fsip1	T	C	2: 118,035,583 (GRCm39)	I431V	probably benign	Het
Gm5493	A	T	17: 22,969,043 (GRCm39)	E74D	probably benign	Het
H2-Oa	A	G	17: 34,313,540 (GRCm39)	D197G	probably benign	Het
Hps1	T	C	19: 42,758,046 (GRCm39)	E169G	probably null	Het
Il17rc	A	T	6: 113,457,308 (GRCm39)	M372L	probably benign	Het
Itga10	A	G	3: 96,565,501 (GRCm39)	S1042G	probably benign	Het
Jchain	A	T	5: 88,669,212 (GRCm39)	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,473 (GRCm39)	T211A	probably benign	Het
Mal2	T	C	15: 54,435,035 (GRCm39)		probably null	Het
Mov10l1	T	A	15: 88,910,823 (GRCm39)	I1071N	probably damaging	Het
Mpp2	T	A	11: 101,951,795 (GRCm39)	Y401F	probably damaging	Het
Myh15	A	G	16: 48,965,610 (GRCm39)	T1172A	probably benign	Het
Or51q1	T	A	7: 103,629,181 (GRCm39)	S261T	probably damaging	Het
Pcnx1	G	T	12: 81,965,381 (GRCm39)	S516I	probably benign	Het
Pidd1	C	T	7: 141,019,708 (GRCm39)	A685T	probably damaging	Het
Psg28	A	C	7: 18,164,365 (GRCm39)	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,329,458 (GRCm39)		probably benign	Het
Rapgefl1	T	A	11: 98,741,946 (GRCm39)	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,691,206 (GRCm39)	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408 (GRCm39)	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Sec62	A	G	3: 30,863,985 (GRCm39)	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,614,979 (GRCm39)	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,333,678 (GRCm39)	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc26a11	T	C	11: 119,250,125 (GRCm39)	F127L	probably benign	Het
Spata31h1	T	C	10: 82,121,202 (GRCm39)	D3936G	probably damaging	Het
Stac3	T	A	10: 127,343,615 (GRCm39)	Y252*	probably null	Het
Stoml3	G	A	3: 53,414,927 (GRCm39)	A240T	probably damaging	Het
Tanc1	A	T	2: 59,673,854 (GRCm39)	H1653L	probably benign	Het
Tll1	A	T	8: 64,504,401 (GRCm39)	L665*	probably null	Het
Tnr	A	C	1: 159,688,840 (GRCm39)	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,511,354 (GRCm39)	D165E	probably benign	Het
Tsc2	A	G	17: 24,819,394 (GRCm39)	V1185A	probably benign	Het
Tulp4	A	G	17: 6,249,011 (GRCm39)	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,261,980 (GRCm39)	M72K	possibly damaging	Het
Usp42	G	A	5: 143,700,727 (GRCm39)	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883 (GRCm39)	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,418,972 (GRCm39)	L659*	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
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'- AGAGTCACGTCCTGGGATAACG -3'
(R):5'- GGCCTCCCACTTTAATGAGG -3'

Sequencing Primer
(F):5'- GGAGGACAAGTAAACTGTAAGCCCTC -3'
(R):5'- GGCCTCCCACTTTAATGAGGGATAC -3'

Posted On

2018-03-15