Mutagenetix > Incidental Mutation

Incidental Mutation 'R8683:Dclre1b'

661861

Institutional Source

Beutler Lab

Gene Symbol

Dclre1b

Ensembl Gene

ENSMUSG00000027845

Gene Name

DNA cross-link repair 1B

Synonyms

mSNM1B, SNMIB, Apollo

MMRRC Submission

068538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103707921-103716703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103711298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 204 (S204R)

Ref Sequence

ENSEMBL: ENSMUSP00000029435 (fasta)

Gene Model

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

AlphaFold

Q8C7W7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029435
AA Change: S204R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029435
Gene: ENSMUSG00000027845
AA Change: S204R

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 damaging
Transcript: ENSMUST00000063502
AA Change: S78R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067695
Gene: ENSMUSG00000027845
AA Change: S78R

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 damaging
Transcript: ENSMUST00000106834
AA Change: S204R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102447
Gene: ENSMUSG00000027845
AA Change: S204R

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: 98.9%

Validation Efficiency

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
Aars1	A	G	8: 111,768,881 (GRCm39)	D227G	possibly damaging	Het
Actl11	T	A	9: 107,806,065 (GRCm39)	D129E	probably benign	Het
Adam12	T	A	7: 133,491,929 (GRCm39)	E877D	possibly damaging	Het
Adarb2	T	A	13: 8,807,395 (GRCm39)	V732E	probably damaging	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Adgrg1	C	T	8: 95,736,276 (GRCm39)	H477Y	probably damaging	Het
Ahctf1	T	C	1: 179,623,321 (GRCm39)	E99G	possibly damaging	Het
Ankk1	T	A	9: 49,329,292 (GRCm39)	M93L		Het
Ankmy1	A	T	1: 92,812,972 (GRCm39)	L446M	possibly damaging	Het
Anxa10	T	A	8: 62,510,825 (GRCm39)	Y309F	probably damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Atp6v0a4	T	A	6: 38,025,926 (GRCm39)	*834L	probably null	Het
Avl9	T	A	6: 56,730,378 (GRCm39)	S574T	probably benign	Het
AW551984	G	A	9: 39,511,005 (GRCm39)	T194I	possibly damaging	Het
Azin1	G	A	15: 38,493,775 (GRCm39)	L283F	probably damaging	Het
Birc6	G	A	17: 74,916,114 (GRCm39)	A1677T	possibly damaging	Het
Carm1	A	T	9: 21,497,464 (GRCm39)	D342V	possibly damaging	Het
Ccr4	T	C	9: 114,321,216 (GRCm39)	D283G	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cntn2	A	T	1: 132,450,731 (GRCm39)	L548Q	probably damaging	Het
Copg1	A	G	6: 87,869,637 (GRCm39)	D172G	probably damaging	Het
Cyp2j12	T	A	4: 96,009,805 (GRCm39)	N185Y	probably benign	Het
Dapk3	T	C	10: 81,026,069 (GRCm39)	L120P	probably damaging	Het
Dennd2a	G	A	6: 39,500,137 (GRCm39)	R143*	probably null	Het
Dnah5	A	T	15: 28,289,367 (GRCm39)	E1185D	probably benign	Het
Dop1b	C	T	16: 93,568,699 (GRCm39)	T1587I	probably damaging	Het
Dop1b	A	G	16: 93,570,809 (GRCm39)	T1603A	probably benign	Het
Dym	T	A	18: 75,363,089 (GRCm39)	V531E	probably damaging	Het
Dync2i1	G	T	12: 116,193,262 (GRCm39)	D563E	probably benign	Het
Ecpas	T	C	4: 58,834,515 (GRCm39)	S788G	probably benign	Het
Eif2b4	A	T	5: 31,345,274 (GRCm39)	F453L	probably damaging	Het
Entpd8	G	A	2: 24,974,992 (GRCm39)	G441D	probably damaging	Het
Galnt6	A	T	15: 100,592,603 (GRCm39)	Y535N	probably damaging	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gm10340	T	A	14: 14,826,748 (GRCm39)	D72E	possibly damaging	Het
Gm13102	T	A	4: 143,835,680 (GRCm39)	D449E	probably damaging	Het
Hdac9	T	A	12: 34,440,220 (GRCm39)	K386N	probably damaging	Het
Hgs	T	A	11: 120,366,044 (GRCm39)	C212*	probably null	Het
Hoxa2	C	A	6: 52,141,540 (GRCm39)	A29S	possibly damaging	Het
Ifnar1	T	A	16: 91,296,332 (GRCm39)	W278R	probably damaging	Het
Irf7	C	T	7: 140,843,422 (GRCm39)	G389R	probably null	Het
Lipo3	G	A	19: 33,759,604 (GRCm39)	L211F	probably benign	Het
Mars2	C	T	1: 55,277,741 (GRCm39)	T448I	probably benign	Het
Mcm4	C	A	16: 15,453,138 (GRCm39)	G184C	probably damaging	Het
Mmaa	C	T	8: 79,994,598 (GRCm39)	A403T	probably damaging	Het
Mmel1	A	G	4: 154,973,985 (GRCm39)	I342V	probably benign	Het
Myb	T	C	10: 21,026,405 (GRCm39)	T188A	possibly damaging	Het
Myo1g	C	T	11: 6,467,569 (GRCm39)		probably null	Het
Npas2	A	G	1: 39,386,708 (GRCm39)	Q659R	probably benign	Het
Npr1	A	G	3: 90,362,497 (GRCm39)	V941A	probably benign	Het
Numa1	T	G	7: 101,626,617 (GRCm39)	M1R	probably null	Het
Obscn	T	C	11: 58,967,705 (GRCm39)	S2700G	probably benign	Het
Or2t35	T	A	14: 14,407,480 (GRCm38)	L84H	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Or5g25	A	T	2: 85,478,410 (GRCm39)	I85N	probably benign	Het
Pdpr	T	A	8: 111,850,492 (GRCm39)	H476Q	probably damaging	Het
Pkd1l1	A	T	11: 8,821,805 (GRCm39)	S1630T		Het
Prdm16	A	G	4: 154,613,161 (GRCm39)	S89P	probably damaging	Het
Ptgdr2	T	A	19: 10,917,893 (GRCm39)	W137R	possibly damaging	Het
Ptpra	A	G	2: 130,394,187 (GRCm39)	I784V	possibly damaging	Het
Rabepk	G	T	2: 34,685,188 (GRCm39)	D77E	possibly damaging	Het
Sh2b1	GGGGACCAGCTCAGCCACGGGGACCAGCTC	GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,743 (GRCm39)		probably benign	Het
Smc3	T	A	19: 53,629,616 (GRCm39)	S994T	possibly damaging	Het
Sparc	A	G	11: 55,292,783 (GRCm39)	C147R	probably damaging	Het
Supt6	A	T	11: 78,108,727 (GRCm39)	D1191E	probably benign	Het
Susd4	T	C	1: 182,719,832 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,291,631 (GRCm39)		probably null	Het
Tecta	T	G	9: 42,278,268 (GRCm39)	D1080A	probably damaging	Het
Tenm4	G	T	7: 96,552,064 (GRCm39)	W2538L	probably damaging	Het
Trappc9	A	G	15: 72,884,664 (GRCm39)	F439L	probably benign	Het
Tsbp1	A	T	17: 34,667,782 (GRCm39)	Q158L	possibly damaging	Het
Vegfa	A	T	17: 46,342,396 (GRCm39)	S141T	probably benign	Het
Vmn2r9	T	A	5: 108,996,873 (GRCm39)	D132V	probably benign	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
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
R8868:Dclre1b	UTSW	3	103,710,654 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCTCGGAGTAAGATGAATGGTC -3'
(R):5'- TGTGTGCACCATACAGGCATC -3'

Sequencing Primer
(F):5'- TGAGGGCTGCGCACTTTC -3'
(R):5'- ACCATACAGGCATCTGCTGTATATC -3'

Posted On

2021-03-08