Mutagenetix > Incidental Mutation

Incidental Mutation 'R4866:Dclre1b'

374896

Institutional Source

Beutler Lab

Gene Symbol

Dclre1b

Ensembl Gene

ENSMUSG00000027845

Gene Name

DNA cross-link repair 1B

Synonyms

mSNM1B, SNMIB, Apollo

MMRRC Submission

042476-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4866 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103707921-103716703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103715412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 29 (Y29N)

Ref Sequence

ENSEMBL: ENSMUSP00000143067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029435] [ENSMUST00000047285] [ENSMUST00000063502] [ENSMUST00000076599] [ENSMUST00000106823] [ENSMUST00000106824] [ENSMUST00000106832] [ENSMUST00000106834] [ENSMUST00000128716] [ENSMUST00000198752] [ENSMUST00000200377] [ENSMUST00000199710]

AlphaFold

Q8C7W7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029435
AA Change: Y111N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029435
Gene: ENSMUSG00000027845
AA Change: Y111N

Domain	Start	End	E-Value	Type
Lactamase_B	1	175	2.06e0	SMART
Pfam:DRMBL	215	301	1e-13	PFAM
PDB:3BUA\|H	492	526	1e-10	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000047285

SMART Domains

Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	6	525	7e-94	PFAM
Pfam:Cnd1	98	269	2.4e-11	PFAM
B2-adapt-app_C	619	731	3.75e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063502

SMART Domains

Protein: ENSMUSP00000067695
Gene: ENSMUSG00000027845

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	1	49	4e-24	BLAST
Pfam:DRMBL	89	176	7.4e-20	PFAM
PDB:3BUA\|H	366	400	8e-11	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000076599

SMART Domains

Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	6	525	1e-93	PFAM
Pfam:Cnd1	98	286	3.9e-10	PFAM
B2-adapt-app_C	619	731	3.75e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106823

SMART Domains

Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	6	374	2e-68	PFAM
Pfam:Cnd1	98	285	1.4e-10	PFAM
Pfam:Adaptin_N	371	497	5.2e-16	PFAM
B2-adapt-app_C	591	703	3.75e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106824

SMART Domains

Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952

Domain	Start	End	E-Value	Type
Pfam:Cnd1	35	212	5e-9	PFAM
Pfam:Adaptin_N	35	450	1.2e-62	PFAM
B2-adapt-app_C	544	656	3.75e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106832
AA Change: Y111N

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

SMART Domains

Protein: ENSMUSP00000102445
Gene: ENSMUSG00000027845
AA Change: Y111N

Domain	Start	End	E-Value	Type
Lactamase_B	1	175	2.06e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106834
AA Change: Y111N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845
AA Change: Y111N

Domain	Start	End	E-Value	Type
Lactamase_B	1	175	2.06e0	SMART
Pfam:DRMBL	215	302	7.9e-20	PFAM
PDB:3BUA\|H	492	526	1e-10	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000128716
AA Change: D64E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000121063
Gene: ENSMUSG00000027845
AA Change: D64E

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	1	63	3e-40	BLAST
PDB:3ZDK\|A	1	63	3e-34	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147894

Predicted Effect

probably damaging
Transcript: ENSMUST00000198752
AA Change: Y29N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143067
Gene: ENSMUSG00000027845
AA Change: Y29N

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	1	93	2e-64	BLAST
PDB:3ZDK\|A	1	97	1e-62	PDB
SCOP:d1a7ta_	3	93	5e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145893

Predicted Effect

probably benign
Transcript: ENSMUST00000200377

SMART Domains

Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	7	357	2.9e-45	PFAM
B2-adapt-app_C	451	563	2.8e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199710

SMART Domains

Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053

Domain	Start	End	E-Value	Type
Pfam:Cnd1	35	212	5e-9	PFAM
Pfam:Adaptin_N	35	450	1.2e-62	PFAM
B2-adapt-app_C	544	656	3.75e-42	SMART

Meta Mutation Damage Score

0.2470

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced embryo size and neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abcc5	A	T	16: 20,241,182 (GRCm39)	M1K	probably null	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Apoa2	T	C	1: 171,053,369 (GRCm39)		probably null	Het
Atad1	A	T	19: 32,679,964 (GRCm39)	H79Q	probably benign	Het
Atp8a2	T	C	14: 59,928,916 (GRCm39)	D1046G	probably damaging	Het
Bcam	A	G	7: 19,499,397 (GRCm39)	Y209H	probably benign	Het
Brpf1	G	A	6: 113,299,431 (GRCm39)	V1120I	probably damaging	Het
Catsperb	G	A	12: 101,474,208 (GRCm39)	C302Y	probably damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Ccdc60	T	C	5: 116,310,549 (GRCm39)	D171G	probably damaging	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdan1	C	A	2: 120,561,928 (GRCm39)		probably benign	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfap410	T	A	10: 77,817,413 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,964,716 (GRCm39)	D479G	probably damaging	Het
Cmbl	A	G	15: 31,585,490 (GRCm39)	K113E	probably benign	Het
Cog6	G	A	3: 52,918,019 (GRCm39)	T173I	probably benign	Het
Cts6	T	A	13: 61,350,090 (GRCm39)		probably null	Het
Cyp11a1	G	A	9: 57,933,380 (GRCm39)	V413M	probably damaging	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Depdc1a	T	A	3: 159,221,764 (GRCm39)	I236K	probably damaging	Het
Dhx36	A	T	3: 62,380,198 (GRCm39)	Y833N	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Elovl3	A	G	19: 46,120,603 (GRCm39)	E32G	possibly damaging	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Fcrl2	A	T	3: 87,170,773 (GRCm39)	C4S	possibly damaging	Het
Galnt16	T	C	12: 80,630,851 (GRCm39)	Y310H	probably damaging	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gspt1	C	T	16: 11,040,529 (GRCm39)	R593H	possibly damaging	Het
Hmcn2	A	T	2: 31,279,403 (GRCm39)	T1802S	possibly damaging	Het
Igha	A	G	12: 113,223,129 (GRCm39)	V166A	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Katnb1	T	C	8: 95,824,132 (GRCm39)	S471P	possibly damaging	Het
Kazn	A	G	4: 141,832,216 (GRCm39)	F661S	unknown	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Lgr5	C	T	10: 115,288,590 (GRCm39)	V661I	probably benign	Het
Lvrn	G	T	18: 47,026,768 (GRCm39)	A789S	probably damaging	Het
Mapk10	T	C	5: 103,111,391 (GRCm39)	D351G	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mios	T	G	6: 8,214,857 (GRCm39)	F18V	probably damaging	Het
Mllt6	A	G	11: 97,565,285 (GRCm39)	D575G	probably damaging	Het
Mmp10	G	A	9: 7,508,190 (GRCm39)	V439M	probably damaging	Het
Myh4	A	G	11: 67,139,453 (GRCm39)	D590G	probably benign	Het
Ndufs2	C	T	1: 171,074,618 (GRCm39)	G14R	probably benign	Het
Or10ad1b	T	A	15: 98,125,371 (GRCm39)	I52F	probably damaging	Het
Or51a7	A	T	7: 102,614,927 (GRCm39)	M207L	probably benign	Het
Or56a4	T	C	7: 104,806,514 (GRCm39)	Y125C	possibly damaging	Het
Or8g26	A	G	9: 39,096,367 (GRCm39)	K298E	probably damaging	Het
Plau	G	T	14: 20,887,872 (GRCm39)	V39L	probably benign	Het
Ppp3cb	A	G	14: 20,573,911 (GRCm39)	C275R	probably damaging	Het
Ppp4r4	T	G	12: 103,566,706 (GRCm39)	M51R	possibly damaging	Het
Prr5	A	G	15: 84,626,105 (GRCm39)	Y60C	probably damaging	Het
Ptprt	T	C	2: 161,402,159 (GRCm39)	D1023G	probably damaging	Het
Raly	T	A	2: 154,703,816 (GRCm39)	V129E	probably damaging	Het
Rsph10b	A	G	5: 143,885,347 (GRCm39)	E249G	probably benign	Het
Sart1	A	C	19: 5,432,248 (GRCm39)	L577W	probably damaging	Het
Senp1	T	C	15: 97,964,729 (GRCm39)	E189G	possibly damaging	Het
Slc22a2	G	T	17: 12,803,316 (GRCm39)	C50F	probably damaging	Het
Spem1	A	T	11: 69,711,755 (GRCm39)	V303E	probably damaging	Het
Tgfb3	A	G	12: 86,124,588 (GRCm39)	V40A	possibly damaging	Het
Ttl	T	C	2: 128,923,147 (GRCm39)	S163P	probably damaging	Het
Ttll9	C	A	2: 152,844,920 (GRCm39)	N429K	probably benign	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Zfhx2	A	G	14: 55,302,993 (GRCm39)	S1664P	possibly damaging	Het
Zfp51	T	A	17: 21,682,012 (GRCm39)	D70E	possibly damaging	Het
Zfp592	T	A	7: 80,691,607 (GRCm39)	V1262E	probably damaging	Het
Zfp595	C	A	13: 67,465,760 (GRCm39)	G168C	probably damaging	Het
Zswim9	A	T	7: 12,995,095 (GRCm39)	S354T	probably damaging	Het

Other mutations in Dclre1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Dclre1b	APN	3	103,710,442 (GRCm39)	missense	probably benign
IGL01411:Dclre1b	APN	3	103,710,639 (GRCm39)	missense	probably damaging	1.00
IGL02311:Dclre1b	APN	3	103,715,409 (GRCm39)	missense	probably damaging	1.00
IGL03250:Dclre1b	APN	3	103,711,380 (GRCm39)	splice site	probably null
IGL03410:Dclre1b	APN	3	103,715,456 (GRCm39)	missense	probably damaging	1.00
IGL03046:Dclre1b	UTSW	3	103,710,597 (GRCm39)	missense	probably benign	0.00
R0022:Dclre1b	UTSW	3	103,710,464 (GRCm39)	missense	probably benign	0.03
R0022:Dclre1b	UTSW	3	103,710,464 (GRCm39)	missense	probably benign	0.03
R1173:Dclre1b	UTSW	3	103,711,192 (GRCm39)	missense	probably benign	0.00
R1997:Dclre1b	UTSW	3	103,710,672 (GRCm39)	missense	probably benign	0.02
R2051:Dclre1b	UTSW	3	103,716,356 (GRCm39)	missense	possibly damaging	0.68
R2914:Dclre1b	UTSW	3	103,715,430 (GRCm39)	missense	probably damaging	0.98
R3420:Dclre1b	UTSW	3	103,715,412 (GRCm39)	missense	probably damaging	1.00
R4247:Dclre1b	UTSW	3	103,711,400 (GRCm39)	splice site	probably null
R4250:Dclre1b	UTSW	3	103,711,400 (GRCm39)	splice site	probably null
R4474:Dclre1b	UTSW	3	103,714,559 (GRCm39)	unclassified	probably benign
R5098:Dclre1b	UTSW	3	103,716,452 (GRCm39)	unclassified	probably benign
R5375:Dclre1b	UTSW	3	103,711,290 (GRCm39)	missense	probably damaging	1.00
R5796:Dclre1b	UTSW	3	103,714,773 (GRCm39)	nonsense	probably null
R5888:Dclre1b	UTSW	3	103,711,053 (GRCm39)	missense	probably damaging	1.00
R6189:Dclre1b	UTSW	3	103,710,849 (GRCm39)	missense	probably damaging	1.00
R6356:Dclre1b	UTSW	3	103,715,471 (GRCm39)	missense	probably damaging	1.00
R6443:Dclre1b	UTSW	3	103,710,504 (GRCm39)	missense	possibly damaging	0.82
R7471:Dclre1b	UTSW	3	103,710,430 (GRCm39)	missense	probably benign	0.00
R7994:Dclre1b	UTSW	3	103,710,702 (GRCm39)	missense	probably damaging	0.99
R8683:Dclre1b	UTSW	3	103,711,298 (GRCm39)	missense	probably damaging	1.00
R8868:Dclre1b	UTSW	3	103,710,654 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GAAAATGTCTCTTTCCCACTCTTGG -3'
(R):5'- AGTCTATGGTTACTCGGGTGAC -3'

Sequencing Primer
(F):5'- CTGGGTGTCCTAGAACTCACTAAG -3'
(R):5'- GGTGACCAACTGTTTTCCTCAGG -3'

Posted On

2016-03-17