Mutagenetix > Incidental Mutation

Incidental Mutation 'R9665:Dscc1'

727795

Institutional Source

Beutler Lab

Gene Symbol

Dscc1

Ensembl Gene

ENSMUSG00000022422

Gene Name

DNA replication and sister chromatid cohesion 1

Synonyms

2600005O03Rik, 2010006I05Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R9665 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55076099-55090491 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55083441 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 296 (I296K)

Ref Sequence

ENSEMBL: ENSMUSP00000105860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023059] [ENSMUST00000110231]

AlphaFold

Q14AI0

Predicted Effect

probably benign
Transcript: ENSMUST00000023059

SMART Domains

Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC
Pfam:DUF2036	48	364	7.3e-110	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000110231
AA Change: I296K

SMART Domains

Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: I296K

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC
Pfam:DUF2036	49	271	5.9e-62	PFAM
Pfam:DUF2036	284	426	4.3e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,170,339	E79G	probably damaging	Het
4930583I09Rik	T	A	17: 64,834,293	Q78L	unknown	Het
9330159F19Rik	G	T	10: 29,227,348	V642F	probably benign	Het
Abca9	T	A	11: 110,115,454	Q1275L	probably benign	Het
Abca9	G	T	11: 110,115,455	Q1275K	probably benign	Het
Ager	C	T	17: 34,600,116	P313S	probably benign	Het
Ap4m1	T	A	5: 138,173,011	N98K	probably benign	Het
Arhgef12	T	G	9: 43,018,354	K215T	possibly damaging	Het
Arhgef4	T	C	1: 34,810,437	Y370H	probably benign	Het
Bcat1	T	G	6: 145,048,762	H3P	probably benign	Het
Btnl6	T	A	17: 34,513,661	Q313L	probably benign	Het
Cad	T	C	5: 31,072,359	S1458P	probably benign	Het
Cfap161	A	G	7: 83,793,371	V78A	probably benign	Het
Chd2	C	A	7: 73,429,807	A1782S	probably benign	Het
Col4a3	A	T	1: 82,690,580	T1042S	unknown	Het
Cramp1l	A	T	17: 24,977,571	N856K	probably damaging	Het
Crispld2	G	A	8: 120,033,577	R414H	probably benign	Het
Ctsb	T	A	14: 63,133,468		probably null	Het
Cyp2c69	T	C	19: 39,851,060	D373G	possibly damaging	Het
Dnah3	A	G	7: 120,045,758	V1100A	probably benign	Het
Dnajb6	A	T	5: 29,766,376	L225F	probably damaging	Het
Epb41l2	A	G	10: 25,441,900	D105G	probably benign	Het
Evpl	G	A	11: 116,232,671	R292C	probably damaging	Het
Fam166b	T	A	4: 43,427,554	R257*	probably null	Het
Flnc	T	C	6: 29,455,448	I2032T	probably damaging	Het
Fryl	T	A	5: 73,064,956	D2094V	probably damaging	Het
Gigyf2	A	G	1: 87,403,735	S202G	unknown	Het
Gm8871	A	G	5: 11,042,885	K132R		Het
Hdgfl1	A	T	13: 26,769,829	M87K	probably benign	Het
Htra3	T	A	5: 35,679,310	I13F	unknown	Het
Igf2r	T	C	17: 12,694,140	N1774D	probably benign	Het
Ighj1	A	T	12: 113,429,826	Y3N		Het
Incenp	T	C	19: 9,893,965	H100R	unknown	Het
Klrb1c	A	G	6: 128,783,662		probably null	Het
Lmbrd1	T	A	1: 24,692,984	V94D	probably damaging	Het
Lmna	A	T	3: 88,482,486	S611T	probably benign	Het
Lsp1	A	C	7: 142,490,405	I296L	probably benign	Het
Mdga1	A	T	17: 29,833,017	I892N	probably damaging	Het
Micu3	A	G	8: 40,375,625	E351G	probably benign	Het
Mrpl35	A	G	6: 71,818,720	V61A	probably benign	Het
Nhsl1	A	G	10: 18,525,851	K908E	possibly damaging	Het
Nlk	A	G	11: 78,590,927	L236P		Het
Nwd1	T	A	8: 72,674,478	H735Q	probably damaging	Het
Olfr1141	A	T	2: 87,753,327	I222N	probably damaging	Het
Olfr22-ps1	A	T	11: 73,954,830	I47F	probably benign	Het
Olfr74	A	G	2: 87,974,252	S138P	possibly damaging	Het
Olfr871	T	A	9: 20,213,106	Y252*	probably null	Het
Otof	T	A	5: 30,427,551	S70C	probably benign	Het
Park2	T	A	17: 11,067,175	D18E	possibly damaging	Het
Pcdh20	A	T	14: 88,469,726	V46D	probably benign	Het
Pjvk	A	G	2: 76,657,483	T240A	probably benign	Het
Pou2f1	A	G	1: 165,876,031	S697P	probably damaging	Het
Prmt9	G	A	8: 77,580,638	V739I	probably benign	Het
Prr14	A	G	7: 127,473,919	D146G	probably benign	Het
Rai14	T	G	15: 10,574,717	E747D	probably damaging	Het
Rapgef4	A	T	2: 72,205,674	T504S	probably benign	Het
Rilpl2	C	A	5: 124,478,177		probably benign	Het
Ror2	A	T	13: 53,285,525	M1K	probably null	Het
Shisa9	A	G	16: 12,267,582	T352A	probably benign	Het
Slc35a4	A	G	18: 36,680,598	N33S	probably benign	Het
Slx4	G	T	16: 3,989,026	L518I	probably benign	Het
Spon2	T	C	5: 33,217,358	T35A	probably benign	Het
Syne3	A	C	12: 104,957,988	L471R	probably benign	Het
Tas2r115	A	G	6: 132,737,427	L187S	probably benign	Het
Tbc1d30	G	T	10: 121,266,981	S715R	possibly damaging	Het
Tdrd1	A	G	19: 56,831,140	E24G	probably benign	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tjp1	A	G	7: 65,312,896	S1178P	probably benign	Het
Upf2	A	G	2: 6,046,904	S1126G	unknown	Het
Vmn1r128	G	T	7: 21,349,437	C22F	probably damaging	Het
Vmn2r95	G	T	17: 18,440,345	V340F	probably damaging	Het
Vps13c	A	T	9: 67,955,743	K3014*	probably null	Het
Wdr75	T	C	1: 45,803,853	V126A	unknown	Het
Yeats4	A	T	10: 117,217,438	Y139*	probably null	Het
Zc3h13	A	G	14: 75,330,549	D1094G	probably damaging	Het
Zfp143	C	G	7: 110,093,207	I608M	probably damaging	Het
Zfp772	A	T	7: 7,209,794	M1K	probably null	Het
Zfp827	A	G	8: 79,180,127	M923V	possibly damaging	Het

Other mutations in Dscc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01121:Dscc1	APN	15	55082325	splice site	probably benign
IGL01879:Dscc1	APN	15	55086816	missense	probably benign	0.21
BB001:Dscc1	UTSW	15	55082176	missense	probably benign	0.03
BB011:Dscc1	UTSW	15	55082176	missense	probably benign	0.03
PIT4498001:Dscc1	UTSW	15	55082315	missense	probably benign	0.00
PIT4812001:Dscc1	UTSW	15	55082261	missense	probably damaging	1.00
R0106:Dscc1	UTSW	15	55083570	missense	probably benign	0.10
R0106:Dscc1	UTSW	15	55083570	missense	probably benign	0.10
R0594:Dscc1	UTSW	15	55089052	missense	possibly damaging	0.69
R0616:Dscc1	UTSW	15	55083570	missense	probably benign	0.10
R1458:Dscc1	UTSW	15	55086764	missense	probably damaging	1.00
R1498:Dscc1	UTSW	15	55080176	splice site	probably benign
R1763:Dscc1	UTSW	15	55080176	splice site	probably benign
R1763:Dscc1	UTSW	15	55084139	missense	probably damaging	0.98
R1985:Dscc1	UTSW	15	55080176	splice site	probably benign
R2418:Dscc1	UTSW	15	55083424	nonsense	probably null
R2419:Dscc1	UTSW	15	55083424	nonsense	probably null
R3955:Dscc1	UTSW	15	55083553	missense	probably benign	0.05
R4773:Dscc1	UTSW	15	55080258	missense	probably benign	0.01
R5611:Dscc1	UTSW	15	55082173	missense	probably benign	0.23
R6484:Dscc1	UTSW	15	55080290	nonsense	probably null
R7562:Dscc1	UTSW	15	55084185	missense	probably benign	0.15
R7662:Dscc1	UTSW	15	55076165	missense	possibly damaging	0.95
R7924:Dscc1	UTSW	15	55082176	missense	probably benign	0.03
R9263:Dscc1	UTSW	15	55084109	missense	probably damaging	1.00
R9764:Dscc1	UTSW	15	55090278	missense	probably benign	0.03
Z1088:Dscc1	UTSW	15	55080317	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TATTCTGGGAACTGCTACATGCC -3'
(R):5'- CTGAGGACATAGCATTTACATTCTG -3'

Sequencing Primer
(F):5'- GGAACTGCTACATGCCAAGGC -3'
(R):5'- ATGTATGCGTGTGCACAG -3'

Posted On

2022-10-06