Mutagenetix > Incidental Mutation

Incidental Mutation 'R0355:Dclre1a'

29806

Institutional Source

Beutler Lab

Gene Symbol

Dclre1a

Ensembl Gene

ENSMUSG00000025077

Gene Name

DNA cross-link repair 1A

Synonyms

2810043H12Rik, SNM1, SMN1a, mSNM1

MMRRC Submission

038561-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56517599-56536675 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 56535067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071423] [ENSMUST00000182059] [ENSMUST00000182276] [ENSMUST00000183143]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000026063
Gene: ENSMUSG00000025077

Domain	Start	End	E-Value	Type
low complexity region	72	92	N/A	INTRINSIC
low complexity region	193	202	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC
Lactamase_B	687	835	7.86e-1	SMART
Pfam:DRMBL	903	1009	1.1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071423

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin_8	78	174	2.7e-14	PFAM
LY	216	258	8.44e0	SMART
Pfam:NHL	278	304	2.3e-9	PFAM
low complexity region	321	331	N/A	INTRINSIC
Blast:LY	402	446	5e-8	BLAST
LY	467	509	1.91e0	SMART
Pfam:NHL	530	558	1.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182058

Predicted Effect

probably benign
Transcript: ENSMUST00000182059

Predicted Effect

probably null
Transcript: ENSMUST00000182276

SMART Domains

Protein: ENSMUSP00000138290
Gene: ENSMUSG00000025077

Domain	Start	End	E-Value	Type
low complexity region	90	110	N/A	INTRINSIC
low complexity region	211	220	N/A	INTRINSIC
low complexity region	546	560	N/A	INTRINSIC
Lactamase_B	705	853	7.86e-1	SMART
Pfam:DRMBL	921	1027	1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183143

SMART Domains

Protein: ENSMUSP00000138537
Gene: ENSMUSG00000025077

Domain	Start	End	E-Value	Type
low complexity region	90	110	N/A	INTRINSIC

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 90.2%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile but exhibit increased sensitivity to the DNA interstrand cross-linking agent mitomycin C. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,021 (GRCm39)	I52M	possibly damaging	Het
Agbl5	G	T	5: 31,049,335 (GRCm39)		probably null	Het
Akt2	T	C	7: 27,336,334 (GRCm39)		probably benign	Het
Arl6ip5	T	A	6: 97,209,378 (GRCm39)	S138T	probably damaging	Het
Atp9b	A	G	18: 80,952,800 (GRCm39)		probably benign	Het
Ccdc171	A	T	4: 83,553,919 (GRCm39)	N422Y	probably damaging	Het
Ccr5	C	T	9: 123,924,951 (GRCm39)	P185S	possibly damaging	Het
Cep63	G	T	9: 102,500,759 (GRCm39)	Q38K	probably benign	Het
Cgn	T	C	3: 94,682,242 (GRCm39)	S446G	probably benign	Het
Col16a1	T	A	4: 129,952,206 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 15,968,330 (GRCm39)	Q3099L	probably damaging	Het
Dcc	G	A	18: 71,708,279 (GRCm39)	T479I	possibly damaging	Het
Dlg1	T	A	16: 31,502,992 (GRCm39)	C66*	probably null	Het
Dnah12	T	A	14: 26,427,272 (GRCm39)		probably null	Het
Dnajb9	T	A	12: 44,253,987 (GRCm39)	H140L	probably damaging	Het
Dnase1	G	A	16: 3,857,413 (GRCm39)	V237M	probably damaging	Het
Dscam	C	A	16: 96,456,105 (GRCm39)	E1274D	probably benign	Het
Epb41	T	C	4: 131,727,572 (GRCm39)	H243R	probably damaging	Het
Evc	T	A	5: 37,473,656 (GRCm39)		probably benign	Het
Fcgrt	T	A	7: 44,752,493 (GRCm39)	M1L	unknown	Het
Flii	T	C	11: 60,610,506 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,298,355 (GRCm39)		probably benign	Het
Gm10447	T	C	11: 53,347,257 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,101,054 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,055,975 (GRCm39)		noncoding transcript	Het
Gpr137	G	C	19: 6,916,491 (GRCm39)	D253E	probably damaging	Het
Grid2ip	A	T	5: 143,343,652 (GRCm39)	D116V	probably benign	Het
Grin2c	A	G	11: 115,151,554 (GRCm39)		probably benign	Het
Havcr1	A	G	11: 46,647,051 (GRCm39)	T162A	possibly damaging	Het
Hspa1l	A	T	17: 35,196,386 (GRCm39)	T142S	probably benign	Het
Ift140	T	A	17: 25,267,409 (GRCm39)	Y602*	probably null	Het
Il18	T	A	9: 50,490,575 (GRCm39)		probably benign	Het
Ilf3	T	C	9: 21,309,266 (GRCm39)	V474A	probably damaging	Het
Inppl1	T	C	7: 101,476,664 (GRCm39)	Y771C	probably damaging	Het
Ints2	T	C	11: 86,125,575 (GRCm39)	T542A	probably benign	Het
Ipo7	T	C	7: 109,648,868 (GRCm39)	Y714H	probably benign	Het
Itgbl1	T	A	14: 124,077,997 (GRCm39)	C162*	probably null	Het
Kcp	T	C	6: 29,496,926 (GRCm39)	H561R	possibly damaging	Het
Krt23	G	T	11: 99,376,613 (GRCm39)	T181N	probably benign	Het
Lrrc40	A	T	3: 157,746,108 (GRCm39)	D61V	probably damaging	Het
Lypd4	T	A	7: 24,564,691 (GRCm39)	H149L	probably benign	Het
Map3k4	A	G	17: 12,473,058 (GRCm39)	F953L	probably damaging	Het
Mctp1	C	T	13: 76,972,982 (GRCm39)	P405S	probably damaging	Het
Mfsd2a	G	A	4: 122,845,632 (GRCm39)	T173I	possibly damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nipsnap1	G	A	11: 4,839,957 (GRCm39)	G226E	probably damaging	Het
Nudt15	T	C	14: 73,760,824 (GRCm39)	Y89C	probably damaging	Het
Or10g7	T	A	9: 39,905,459 (GRCm39)	S118T	possibly damaging	Het
Or10h28	T	A	17: 33,488,109 (GRCm39)	M137K	probably damaging	Het
Or13p3	T	A	4: 118,566,808 (GRCm39)	M68K	probably benign	Het
Or7a37	T	G	10: 78,806,267 (GRCm39)	S261R	probably damaging	Het
Phf24	A	C	4: 42,933,891 (GRCm39)	E91A	probably damaging	Het
Plbd1	T	A	6: 136,618,165 (GRCm39)	N17I	possibly damaging	Het
Por	C	T	5: 135,761,438 (GRCm39)	S308L	probably benign	Het
Prmt8	T	A	6: 127,688,837 (GRCm39)	K178*	probably null	Het
Rev3l	A	G	10: 39,693,282 (GRCm39)	N454S	probably damaging	Het
Rps6ka2	T	C	17: 7,539,009 (GRCm39)	V309A	probably benign	Het
Slc15a5	A	G	6: 137,995,112 (GRCm39)		probably benign	Het
Slc30a6	G	A	17: 74,730,198 (GRCm39)	V363I	probably benign	Het
Snf8	G	A	11: 95,930,125 (GRCm39)	M42I	probably benign	Het
Stom	T	C	2: 35,215,371 (GRCm39)	I65V	probably benign	Het
Tacr3	C	T	3: 134,637,989 (GRCm39)	T382I	probably benign	Het
Tenm3	A	G	8: 48,682,010 (GRCm39)	V2540A	probably damaging	Het
Trabd	A	G	15: 88,969,816 (GRCm39)	T314A	possibly damaging	Het
Tyk2	T	C	9: 21,025,486 (GRCm39)		probably null	Het
Ube4a	T	C	9: 44,856,099 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,589,015 (GRCm39)	H1060R	possibly damaging	Het
Virma	A	T	4: 11,528,626 (GRCm39)	K1288*	probably null	Het
Vmn2r100	A	C	17: 19,751,582 (GRCm39)	I542L	probably benign	Het
Vwde	T	C	6: 13,187,806 (GRCm39)		probably benign	Het
Zfc3h1	T	C	10: 115,245,018 (GRCm39)	I797T	possibly damaging	Het
Zfp74	C	T	7: 29,653,466 (GRCm39)		probably benign	Het
Zkscan7	T	A	9: 122,717,872 (GRCm39)	L89Q	probably damaging	Het

Other mutations in Dclre1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Dclre1a	APN	19	56,535,489 (GRCm39)	missense	probably damaging	1.00
IGL02113:Dclre1a	APN	19	56,529,964 (GRCm39)	missense	probably damaging	0.98
IGL02264:Dclre1a	APN	19	56,532,725 (GRCm39)	missense	possibly damaging	0.93
IGL03303:Dclre1a	APN	19	56,535,198 (GRCm39)	missense	possibly damaging	0.85
Gof	UTSW	19	56,531,141 (GRCm39)	missense	probably damaging	1.00
Hoopla	UTSW	19	56,535,067 (GRCm39)	critical splice donor site	probably null
FR4589:Dclre1a	UTSW	19	56,532,555 (GRCm39)	utr 3 prime	probably benign
PIT4377001:Dclre1a	UTSW	19	56,532,837 (GRCm39)	missense	probably benign	0.05
R0081:Dclre1a	UTSW	19	56,531,139 (GRCm39)	missense	probably damaging	1.00
R0422:Dclre1a	UTSW	19	56,532,567 (GRCm39)	nonsense	probably null
R0486:Dclre1a	UTSW	19	56,529,922 (GRCm39)	splice site	probably benign
R0619:Dclre1a	UTSW	19	56,533,841 (GRCm39)	missense	probably benign	0.00
R0639:Dclre1a	UTSW	19	56,526,872 (GRCm39)	missense	probably damaging	1.00
R1221:Dclre1a	UTSW	19	56,519,700 (GRCm39)	missense	possibly damaging	0.69
R1352:Dclre1a	UTSW	19	56,533,595 (GRCm39)	missense	probably damaging	1.00
R1824:Dclre1a	UTSW	19	56,535,150 (GRCm39)	splice site	probably null
R1833:Dclre1a	UTSW	19	56,529,932 (GRCm39)	splice site	probably null
R3851:Dclre1a	UTSW	19	56,529,939 (GRCm39)	missense	probably damaging	1.00
R3889:Dclre1a	UTSW	19	56,533,752 (GRCm39)	missense	probably benign	0.00
R4373:Dclre1a	UTSW	19	56,533,874 (GRCm39)	missense	probably benign	0.04
R5277:Dclre1a	UTSW	19	56,533,164 (GRCm39)	missense	possibly damaging	0.78
R5747:Dclre1a	UTSW	19	56,529,964 (GRCm39)	missense	probably damaging	0.98
R5792:Dclre1a	UTSW	19	56,518,022 (GRCm39)	missense	probably damaging	1.00
R5892:Dclre1a	UTSW	19	56,535,572 (GRCm39)	missense	probably benign	0.29
R5993:Dclre1a	UTSW	19	56,531,169 (GRCm39)	missense	probably damaging	1.00
R6368:Dclre1a	UTSW	19	56,535,223 (GRCm39)	missense	probably benign	0.02
R6706:Dclre1a	UTSW	19	56,533,501 (GRCm39)	missense	probably benign	0.11
R6944:Dclre1a	UTSW	19	56,533,451 (GRCm39)	missense	possibly damaging	0.90
R6960:Dclre1a	UTSW	19	56,531,141 (GRCm39)	missense	probably damaging	1.00
R7023:Dclre1a	UTSW	19	56,528,638 (GRCm39)	missense	probably damaging	0.99
R7213:Dclre1a	UTSW	19	56,518,067 (GRCm39)	missense	probably damaging	1.00
R7355:Dclre1a	UTSW	19	56,535,567 (GRCm39)	missense	possibly damaging	0.53
R7413:Dclre1a	UTSW	19	56,531,082 (GRCm39)	missense	probably damaging	1.00
R7577:Dclre1a	UTSW	19	56,517,965 (GRCm39)	missense	probably damaging	1.00
R7840:Dclre1a	UTSW	19	56,519,684 (GRCm39)	missense	probably damaging	1.00
R8270:Dclre1a	UTSW	19	56,533,382 (GRCm39)	missense	possibly damaging	0.61
R8303:Dclre1a	UTSW	19	56,531,121 (GRCm39)	missense	probably damaging	1.00
R8986:Dclre1a	UTSW	19	56,526,826 (GRCm39)	missense
R9101:Dclre1a	UTSW	19	56,532,738 (GRCm39)	missense	possibly damaging	0.46
R9141:Dclre1a	UTSW	19	56,533,542 (GRCm39)	missense	probably damaging	0.98
R9165:Dclre1a	UTSW	19	56,526,801 (GRCm39)	missense	probably damaging	0.97
R9321:Dclre1a	UTSW	19	56,531,100 (GRCm39)	missense	probably damaging	1.00
R9578:Dclre1a	UTSW	19	56,528,734 (GRCm39)	missense	probably damaging	0.99
RF031:Dclre1a	UTSW	19	56,532,564 (GRCm39)	utr 3 prime	probably benign
RF046:Dclre1a	UTSW	19	56,532,564 (GRCm39)	utr 3 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTTCAGCGACATTTGTGGAAACTG -3'
(R):5'- AGTGTGCCTTGCAGAAACAGACAG -3'

Sequencing Primer
(F):5'- CTGAgaagttgagatgatggctc -3'
(R):5'- CAGGTTCCAGTCAGAGTTCG -3'

Posted On

2013-04-24