Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:Dscc1'

63356

Institutional Source

Beutler Lab

Gene Symbol

Dscc1

Ensembl Gene

ENSMUSG00000022422

Gene Name

DNA replication and sister chromatid cohesion 1

Synonyms

2600005O03Rik, 2010006I05Rik

MMRRC Submission

038392-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

54939497-54953887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54946966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 253 (C253F)

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

probably benign
Transcript: ENSMUST00000110231
AA Change: C253F

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105860
Gene: ENSMUSG00000022422
AA Change: C253F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (84/84)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	A	T	12: 112,381,628 (GRCm39)		noncoding transcript	Het
Abcb9	T	C	5: 124,221,123 (GRCm39)	N276S	possibly damaging	Het
Arhgef25	A	G	10: 127,019,879 (GRCm39)		probably null	Het
Asic4	T	C	1: 75,427,771 (GRCm39)	V99A	probably benign	Het
Aspm	C	A	1: 139,404,614 (GRCm39)	Q1315K	probably benign	Het
B3galnt2	T	C	13: 14,170,378 (GRCm39)	S243P	probably benign	Het
Brf1	A	G	12: 112,937,083 (GRCm39)		probably benign	Het
Card19	A	C	13: 49,361,621 (GRCm39)	D3E	probably benign	Het
Chd6	A	G	2: 160,809,822 (GRCm39)	F1480L	probably damaging	Het
Ckap5	T	C	2: 91,408,550 (GRCm39)	I915T	possibly damaging	Het
Ckap5	T	A	2: 91,446,185 (GRCm39)	I1836N	probably damaging	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Cramp1	A	G	17: 25,191,350 (GRCm39)	V1037A	probably benign	Het
Cspg5	C	A	9: 110,075,600 (GRCm39)	P112Q	probably damaging	Het
Cyp2g1	T	A	7: 26,513,607 (GRCm39)	I182N	probably damaging	Het
Dysf	C	A	6: 84,090,318 (GRCm39)	F956L	probably benign	Het
Ephb6	T	C	6: 41,596,528 (GRCm39)		probably benign	Het
Firrm	T	C	1: 163,810,380 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,368,858 (GRCm39)	R234Q	probably benign	Het
Gda	T	C	19: 21,374,920 (GRCm39)	D332G	probably benign	Het
Ggt7	C	T	2: 155,336,813 (GRCm39)	A560T	possibly damaging	Het
Glis3	A	T	19: 28,509,268 (GRCm39)	S239T	possibly damaging	Het
Gm10845	T	A	14: 80,100,644 (GRCm39)		noncoding transcript	Het
H2-M5	A	G	17: 37,300,034 (GRCm39)	F47L	possibly damaging	Het
Hsdl1	T	A	8: 120,292,517 (GRCm39)	S254C	probably damaging	Het
Igsf6	T	A	7: 120,673,677 (GRCm39)	I18F	probably benign	Het
Immt	A	G	6: 71,828,828 (GRCm39)	S128G	probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kif13a	G	T	13: 46,978,823 (GRCm39)		probably benign	Het
Kif14	T	C	1: 136,407,662 (GRCm39)		probably benign	Het
L2hgdh	A	T	12: 69,752,563 (GRCm39)	Y239*	probably null	Het
Lama3	T	C	18: 12,537,039 (GRCm39)	V228A	probably damaging	Het
Lamp1	A	G	8: 13,224,550 (GRCm39)	T405A	probably damaging	Het
Lpin1	A	T	12: 16,590,980 (GRCm39)	N817K	possibly damaging	Het
Luzp1	A	G	4: 136,269,996 (GRCm39)	K740E	probably damaging	Het
Mapk12	T	C	15: 89,017,187 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,763,480 (GRCm39)	N205K	probably damaging	Het
Myo1a	A	G	10: 127,555,749 (GRCm39)	I913V	probably benign	Het
Nat10	A	G	2: 103,587,550 (GRCm39)	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,524,529 (GRCm39)	E317G	possibly damaging	Het
Nomo1	T	C	7: 45,687,056 (GRCm39)	I72T	probably damaging	Het
Or5b98	A	G	19: 12,931,720 (GRCm39)	I256V	probably benign	Het
Or8d6	GC	G	9: 39,854,119 (GRCm39)		probably null	Het
Pappa2	C	T	1: 158,542,547 (GRCm39)	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 99,899,580 (GRCm39)	M65V	probably benign	Het
Plec	C	T	15: 76,060,518 (GRCm39)	E3162K	probably damaging	Het
Pnisr	T	C	4: 21,874,617 (GRCm39)		probably benign	Het
Pop7	A	G	5: 137,499,911 (GRCm39)	*141Q	probably null	Het
Prss34	A	T	17: 25,517,700 (GRCm39)	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,818,338 (GRCm39)		probably benign	Het
Pygb	A	G	2: 150,648,123 (GRCm39)	D119G	probably benign	Het
Racgap1	T	C	15: 99,540,839 (GRCm39)	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,326,570 (GRCm39)	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,802 (GRCm39)	V705L	probably benign	Het
Rgs1	C	T	1: 144,124,287 (GRCm39)	V50M	probably benign	Het
Rgs12	C	T	5: 35,124,008 (GRCm39)	T597I	probably benign	Het
Ros1	T	C	10: 52,018,363 (GRCm39)	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,450,182 (GRCm39)	R58G	probably damaging	Het
Scube2	A	G	7: 109,446,115 (GRCm39)		probably benign	Het
Serpinb10	T	A	1: 107,474,474 (GRCm39)	L212Q	probably damaging	Het
Slc6a7	A	G	18: 61,135,295 (GRCm39)	V411A	probably benign	Het
Slco1a6	A	T	6: 142,103,116 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,955,020 (GRCm39)	D1077E	probably damaging	Het
Srek1	G	A	13: 103,880,131 (GRCm39)	H476Y	unknown	Het
Strn3	A	G	12: 51,668,571 (GRCm39)	V673A	probably benign	Het
Tepsin	T	C	11: 119,982,637 (GRCm39)		probably null	Het
Timmdc1	A	C	16: 38,342,724 (GRCm39)	L58R	probably damaging	Het
Tmem132c	T	C	5: 127,631,733 (GRCm39)	V664A	possibly damaging	Het
Tmem241	A	T	18: 12,239,066 (GRCm39)		probably benign	Het
Tmprss15	T	C	16: 78,800,277 (GRCm39)	D602G	probably damaging	Het
Trbv15	T	C	6: 41,118,199 (GRCm39)		probably benign	Het
Wdr70	A	T	15: 8,049,068 (GRCm39)		probably null	Het

Other mutations in Dscc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01121:Dscc1	APN	15	54,945,721 (GRCm39)	splice site	probably benign
IGL01879:Dscc1	APN	15	54,950,212 (GRCm39)	missense	probably benign	0.21
BB001:Dscc1	UTSW	15	54,945,572 (GRCm39)	missense	probably benign	0.03
BB011:Dscc1	UTSW	15	54,945,572 (GRCm39)	missense	probably benign	0.03
PIT4498001:Dscc1	UTSW	15	54,945,711 (GRCm39)	missense	probably benign	0.00
PIT4812001:Dscc1	UTSW	15	54,945,657 (GRCm39)	missense	probably damaging	1.00
R0106:Dscc1	UTSW	15	54,946,966 (GRCm39)	missense	probably benign	0.10
R0594:Dscc1	UTSW	15	54,952,448 (GRCm39)	missense	possibly damaging	0.69
R0616:Dscc1	UTSW	15	54,946,966 (GRCm39)	missense	probably benign	0.10
R1458:Dscc1	UTSW	15	54,950,160 (GRCm39)	missense	probably damaging	1.00
R1498:Dscc1	UTSW	15	54,943,572 (GRCm39)	splice site	probably benign
R1763:Dscc1	UTSW	15	54,943,572 (GRCm39)	splice site	probably benign
R1763:Dscc1	UTSW	15	54,947,535 (GRCm39)	missense	probably damaging	0.98
R1985:Dscc1	UTSW	15	54,943,572 (GRCm39)	splice site	probably benign
R2418:Dscc1	UTSW	15	54,946,820 (GRCm39)	nonsense	probably null
R2419:Dscc1	UTSW	15	54,946,820 (GRCm39)	nonsense	probably null
R3955:Dscc1	UTSW	15	54,946,949 (GRCm39)	missense	probably benign	0.05
R4773:Dscc1	UTSW	15	54,943,654 (GRCm39)	missense	probably benign	0.01
R5611:Dscc1	UTSW	15	54,945,569 (GRCm39)	missense	probably benign	0.23
R6484:Dscc1	UTSW	15	54,943,686 (GRCm39)	nonsense	probably null
R7562:Dscc1	UTSW	15	54,947,581 (GRCm39)	missense	probably benign	0.15
R7662:Dscc1	UTSW	15	54,939,561 (GRCm39)	missense	possibly damaging	0.95
R7924:Dscc1	UTSW	15	54,945,572 (GRCm39)	missense	probably benign	0.03
R9263:Dscc1	UTSW	15	54,947,505 (GRCm39)	missense	probably damaging	1.00
R9665:Dscc1	UTSW	15	54,946,837 (GRCm39)	missense	unknown
R9764:Dscc1	UTSW	15	54,953,674 (GRCm39)	missense	probably benign	0.03
Z1088:Dscc1	UTSW	15	54,943,713 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CTCAGTGACCCAAAGTCTCGAATCC -3'
(R):5'- ATAGAGTCCCCTTGACTGTGTGCC -3'

Sequencing Primer
(F):5'- CAAAGTCTCGAATCCTTTCTAGC -3'
(R):5'- ctaaacaatacaaacccaggaaaac -3'

Posted On

2013-07-30