Mutagenetix > Incidental Mutation

Incidental Mutation 'R7471:Dclre1b'

579175

Institutional Source

Beutler Lab

Gene Symbol

Dclre1b

Ensembl Gene

ENSMUSG00000027845

Gene Name

DNA cross-link repair 1B

Synonyms

mSNM1B, SNMIB, Apollo

MMRRC Submission

045545-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7471 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103707921-103716703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103710430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 494 (R494W)

Ref Sequence

ENSEMBL: ENSMUSP00000029435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029435] [ENSMUST00000063502] [ENSMUST00000106832] [ENSMUST00000106834] [ENSMUST00000128716] [ENSMUST00000198752]

AlphaFold

Q8C7W7

Predicted Effect

probably benign
Transcript: ENSMUST00000029435
AA Change: R494W

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029435
Gene: ENSMUSG00000027845
AA Change: R494W

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: ENSMUST00000063502
AA Change: R368W

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067695
Gene: ENSMUSG00000027845
AA Change: R368W

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: ENSMUST00000106832

SMART Domains

Protein: ENSMUSP00000102445
Gene: ENSMUSG00000027845

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106834
AA Change: R494W

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845
AA Change: R494W

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

SMART Domains

Protein: ENSMUSP00000121063
Gene: ENSMUSG00000027845

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198752

SMART Domains

Protein: ENSMUSP00000143067
Gene: ENSMUSG00000027845

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

Coding Region Coverage

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

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,168,608 (GRCm39)		probably null	Het
Ace	T	C	11: 105,864,308 (GRCm39)	V483A	probably damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Angptl2	A	T	2: 33,133,751 (GRCm39)	T358S	possibly damaging	Het
Apoh	C	T	11: 108,298,131 (GRCm39)	P144S	probably damaging	Het
Arid1a	A	G	4: 133,408,355 (GRCm39)	W1666R	unknown	Het
Asap3	A	G	4: 135,960,957 (GRCm39)	H223R	possibly damaging	Het
Bcl2l12	A	G	7: 44,645,977 (GRCm39)	S81P	possibly damaging	Het
Brd10	A	C	19: 29,707,139 (GRCm39)		probably null	Het
C8a	A	G	4: 104,674,822 (GRCm39)	S550P	probably benign	Het
Cacna2d1	C	G	5: 16,139,973 (GRCm39)		probably benign	Het
Ccdc170	A	G	10: 4,470,803 (GRCm39)	T216A	probably benign	Het
Chd7	A	T	4: 8,859,197 (GRCm39)	K2429I	probably damaging	Het
Chd8	T	C	14: 52,441,569 (GRCm39)	N2181S	probably benign	Het
Cimap1c	C	T	9: 56,759,783 (GRCm39)		probably null	Het
Clip3	T	C	7: 30,001,377 (GRCm39)	V342A	possibly damaging	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Cyp20a1	T	C	1: 60,393,799 (GRCm39)	F139S	probably damaging	Het
Dicer1	A	G	12: 104,660,969 (GRCm39)	I1695T	probably damaging	Het
Dnah7a	A	G	1: 53,458,858 (GRCm39)	L3760P	probably damaging	Het
Dock1	A	G	7: 134,765,072 (GRCm39)	D1688G	possibly damaging	Het
Drosha	G	A	15: 12,889,742 (GRCm39)	R870Q	probably damaging	Het
Dsg2	G	T	18: 20,713,675 (GRCm39)	M215I	probably benign	Het
Dst	A	T	1: 34,233,651 (GRCm39)	D3453V	possibly damaging	Het
Epha10	A	T	4: 124,796,365 (GRCm39)	Y358F		Het
Ermp1	A	T	19: 29,590,054 (GRCm39)	M853K	probably benign	Het
Hace1	T	G	10: 45,577,075 (GRCm39)	I823S	probably benign	Het
Hectd3	A	T	4: 116,853,785 (GRCm39)	Y227F	probably benign	Het
Hells	A	G	19: 38,945,501 (GRCm39)	N580S	probably benign	Het
Igkv12-44	A	G	6: 69,791,718 (GRCm39)	F82L	probably damaging	Het
Inpp5d	A	G	1: 87,623,122 (GRCm39)	D405G	probably damaging	Het
Itsn2	G	A	12: 4,758,198 (GRCm39)	R1508H	probably benign	Het
Limk1	A	T	5: 134,686,825 (GRCm39)		probably null	Het
Lingo1	T	A	9: 56,528,167 (GRCm39)	K147*	probably null	Het
Ltn1	T	C	16: 87,194,787 (GRCm39)	S1371G	probably benign	Het
Mab21l1	A	G	3: 55,691,307 (GRCm39)	D298G	possibly damaging	Het
Macf1	A	T	4: 123,366,082 (GRCm39)	V2893E	probably benign	Het
Mapk8ip1	T	C	2: 92,219,489 (GRCm39)	D114G	probably benign	Het
Med15	A	T	16: 17,540,729 (GRCm39)	W6R	probably benign	Het
Mrps34	T	C	17: 25,114,431 (GRCm39)	L97P	probably damaging	Het
Myrfl	A	T	10: 116,697,417 (GRCm39)	F36I	possibly damaging	Het
Nifk	G	A	1: 118,260,204 (GRCm39)	S253N	probably damaging	Het
Nmnat1	T	A	4: 149,557,758 (GRCm39)	T95S	probably damaging	Het
Oasl1	T	A	5: 115,073,985 (GRCm39)	I298N	probably damaging	Het
Or51a8	A	G	7: 102,549,760 (GRCm39)	Y62C	probably benign	Het
Or56b35	T	G	7: 104,963,712 (GRCm39)	L167R	probably damaging	Het
Or8g37	A	T	9: 39,731,423 (GRCm39)	M163L	probably benign	Het
Polr2b	C	T	5: 77,468,913 (GRCm39)	R230*	probably null	Het
Prkra	T	A	2: 76,477,545 (GRCm39)	E53D	probably benign	Het
Rasgrp4	T	A	7: 28,845,405 (GRCm39)	L376Q	probably damaging	Het
Rwdd3	A	G	3: 120,964,961 (GRCm39)	S65P	probably benign	Het
Satb1	G	A	17: 52,090,029 (GRCm39)	P273S	probably damaging	Het
Scg3	T	C	9: 75,589,374 (GRCm39)	E93G	probably damaging	Het
Sf3a1	T	C	11: 4,117,724 (GRCm39)	F162S	possibly damaging	Het
Sorcs1	A	G	19: 50,250,701 (GRCm39)	Y377H	probably damaging	Het
Sptbn4	G	A	7: 27,108,439 (GRCm39)	A661V	possibly damaging	Het
Stk36	A	G	1: 74,673,479 (GRCm39)	N996S	unknown	Het
Tbca	A	T	13: 94,968,923 (GRCm39)	I37F	probably damaging	Het
Tc2n	A	T	12: 101,672,716 (GRCm39)	V75E	probably damaging	Het
Tdrkh	A	T	3: 94,333,263 (GRCm39)	S243C	probably damaging	Het
Tjp1	T	C	7: 64,964,438 (GRCm39)	D911G	probably damaging	Het
Tmbim6	A	G	15: 99,299,324 (GRCm39)		probably benign	Het
Tob1	T	A	11: 94,104,708 (GRCm39)	D81E	probably benign	Het
Ttpal	T	A	2: 163,448,945 (GRCm39)		probably null	Het
Usp37	A	T	1: 74,534,787 (GRCm39)		probably null	Het
Vmn1r235	A	G	17: 21,482,658 (GRCm39)	I328V	probably benign	Het
Vmn1r28	T	A	6: 58,242,850 (GRCm39)	L231*	probably null	Het
Xirp1	G	A	9: 119,848,176 (GRCm39)	Q236*	probably null	Het
Zc3h7b	A	G	15: 81,664,682 (GRCm39)	T514A	probably damaging	Het
Zfp524	A	G	7: 5,021,200 (GRCm39)	I243V	probably benign	Het
Zfp655	T	A	5: 145,181,542 (GRCm39)	Y467N	possibly damaging	Het
Zfp985	A	T	4: 147,667,388 (GRCm39)	K85N	possibly 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
R4866:Dclre1b	UTSW	3	103,715,412 (GRCm39)	missense	probably damaging	0.99
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
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'- TTTTAAAGGAAGACAGCAAGCCAC -3'
(R):5'- CAAGATGGCGACTGTGTTGAC -3'

Sequencing Primer
(F):5'- AGCCACCTCCTGTCACTAG -3'
(R):5'- CCACTGGAATTCTCAGTGCAATTAC -3'

Posted On

2019-10-07