Mutagenetix > Incidental Mutation

Incidental Mutation 'R6484:Dscc1'

517274

Institutional Source

Beutler Lab

Gene Symbol

Dscc1

Ensembl Gene

ENSMUSG00000022422

Gene Name

DNA replication and sister chromatid cohesion 1

Synonyms

2600005O03Rik, 2010006I05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R6484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55076099-55090491 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 55080290 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 395 (K395*)

Ref Sequence

ENSEMBL: ENSMUSP00000105860 (fasta)

Gene Model

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

AlphaFold

Q14AI0

Predicted Effect

probably null
Transcript: ENSMUST00000023059
AA Change: K332*

SMART Domains

Protein: ENSMUSP00000023059
Gene: ENSMUSG00000022422
AA Change: K332*

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

Predicted Effect

probably null
Transcript: ENSMUST00000110231
AA Change: K395*

SMART Domains

Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: K395*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228250

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.7%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,279,095	V1548A	probably damaging	Het
3110062M04Rik	G	A	6: 34,874,616	S101L	probably damaging	Het
Abce1	A	T	8: 79,690,323	M353K	probably damaging	Het
Adgre4	G	A	17: 55,802,036	V348M	possibly damaging	Het
Alg8	T	C	7: 97,382,928	V228A	probably benign	Het
Btbd8	T	C	5: 107,503,585	S115P	probably benign	Het
Car8	A	G	4: 8,189,362	F151L	probably benign	Het
CN725425	A	G	15: 91,260,572	Q546R	probably benign	Het
Col17a1	C	T	19: 47,670,429	V414M	possibly damaging	Het
Col6a3	C	A	1: 90,791,923		probably null	Het
Cyp51	G	A	5: 4,086,627	T389M	probably benign	Het
Dazap1	A	G	10: 80,277,647	T126A	probably benign	Het
Dthd1	A	G	5: 62,814,332	N166S	probably benign	Het
Eefsec	C	G	6: 88,297,788	W398S	probably damaging	Het
Enpep	T	A	3: 129,321,481	H214L	probably damaging	Het
Esf1	T	C	2: 140,158,538	I443V	probably benign	Het
Espl1	T	C	15: 102,323,500	V1984A	possibly damaging	Het
Hip1	A	G	5: 135,440,129	S280P	probably damaging	Het
Il12rb1	C	T	8: 70,809,704		probably null	Het
Itgax	T	A	7: 128,133,718	C255S	probably benign	Het
Kifc5b	T	C	17: 26,924,772	V506A	probably damaging	Het
Klf3	A	G	5: 64,823,029	E54G	probably damaging	Het
Lrig3	A	G	10: 125,996,609		probably null	Het
Mctp1	A	G	13: 76,688,625	I104V	probably benign	Het
Mdga2	T	C	12: 66,630,069	E552G	possibly damaging	Het
Mpc1	A	G	17: 8,296,956	E160G	possibly damaging	Het
Myh10	T	A	11: 68,699,467	I76N	probably damaging	Het
Myh7b	A	T	2: 155,628,643	I1032F	probably benign	Het
Olfml2a	G	A	2: 38,959,768	V499I	probably damaging	Het
Olfr1311	A	T	2: 112,021,419	L145*	probably null	Het
Olfr1458	A	G	19: 13,103,067	V79A	probably benign	Het
Olfr91	T	A	17: 37,093,266	I203F	probably benign	Het
P2ry12	A	G	3: 59,217,333	L307P	probably damaging	Het
Pappa	C	A	4: 65,314,659	A1345D	probably damaging	Het
Phox2b	A	G	5: 67,097,701	I135T	possibly damaging	Het
Poln	C	T	5: 34,129,513	A104T	probably benign	Het
Prkce	A	G	17: 86,490,809	D342G	probably benign	Het
Ptchd3	T	A	11: 121,842,938	F885I	possibly damaging	Het
Rcbtb2	A	T	14: 73,177,050	S434C	probably damaging	Het
Rfc1	A	G	5: 65,293,677	V356A	probably benign	Het
Rln1	A	G	19: 29,334,502	F32S	probably benign	Het
Ryr2	A	G	13: 11,662,383	L3194P	possibly damaging	Het
Sat2	T	C	11: 69,622,527	V34A	probably damaging	Het
Scgb3a2	T	C	18: 43,766,719	I24T	possibly damaging	Het
Slc35e2	T	G	4: 155,612,647	V206G	probably damaging	Het
Slit3	A	T	11: 35,661,298	M890L	probably benign	Het
Sorl1	A	G	9: 41,976,407	L2042P	probably damaging	Het
Ssbp1	T	A	6: 40,474,666	V9E	probably damaging	Het
Tbc1d23	C	T	16: 57,178,016	V520M	probably damaging	Het
Thumpd2	T	C	17: 81,054,188	E203G	probably benign	Het
Tlr11	A	G	14: 50,362,678	D707G	probably damaging	Het
Tlr12	T	A	4: 128,616,054	D801V	probably damaging	Het
Tnrc6b	T	G	15: 80,879,324	N342K	possibly damaging	Het
Vmn1r191	A	C	13: 22,178,748	F279V	probably benign	Het
Vmn2r13	A	T	5: 109,156,674	C630*	probably null	Het
Zbtb1	C	T	12: 76,385,891	T217I	probably damaging	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,719,648		probably benign	Het
Zzef1	C	T	11: 72,895,271	P2090S	probably 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
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
Z1088:Dscc1	UTSW	15	55080317	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- AACAATGCCATGTTAAGGTCAG -3'
(R):5'- ACATGCTGCCTGTAAGCCTC -3'

Sequencing Primer
(F):5'- CAATGCCATGTTAAGGTCAGAAATC -3'
(R):5'- TGCCTGTAAGCCTCTGGATAGAC -3'

Posted On

2018-05-21