Mutagenetix > Incidental Mutation

Incidental Mutation 'R2142:Ddb1'

236432

Institutional Source

Beutler Lab

Gene Symbol

Ddb1

Ensembl Gene

ENSMUSG00000024740

Gene Name

damage specific DNA binding protein 1

Synonyms

damage-specific DNA-binding protein, DNA repair, p127-Ddb1, DNA repair protein

MMRRC Submission

040145-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2142 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10582961-10607186 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 10596490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025649]

AlphaFold

Q3U1J4

Predicted Effect

probably null
Transcript: ENSMUST00000025649

SMART Domains

Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740

Domain	Start	End	E-Value	Type
Pfam:MMS1_N	75	543	1.9e-122	PFAM
low complexity region	755	775	N/A	INTRINSIC
Pfam:CPSF_A	788	1099	1e-92	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]
PHENOTYPE: Complete deletion of this gene results in embryonic lethality; conditional mutation causes increased apoptosis in the developing brain, and defects in lens formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,523,957 (GRCm39)		probably null	Het
Adgrb3	G	T	1: 25,107,290 (GRCm39)	P640T	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Alkbh2	C	T	5: 114,263,777 (GRCm39)	V77I	probably benign	Het
Angpt2	T	C	8: 18,764,156 (GRCm39)	T129A	probably benign	Het
Atp6v0a4	T	A	6: 38,059,871 (GRCm39)	K236*	probably null	Het
Baz1b	G	A	5: 135,246,129 (GRCm39)	R526H	probably damaging	Het
Bltp3b	A	G	10: 89,647,910 (GRCm39)	D207G	probably damaging	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Btnl9	G	T	11: 49,061,453 (GRCm39)		probably null	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cdh8	C	A	8: 99,838,325 (GRCm39)	C505F	probably damaging	Het
Cep112	A	G	11: 108,497,151 (GRCm39)	E697G	probably damaging	Het
Ces1c	T	A	8: 93,857,468 (GRCm39)	I38F	probably benign	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,363,965 (GRCm39)	H546R	probably damaging	Het
Crot	A	T	5: 9,037,780 (GRCm39)	Y179N	possibly damaging	Het
Dck	T	C	5: 88,920,582 (GRCm39)	C101R	probably damaging	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Elf2	A	G	3: 51,163,861 (GRCm39)	V496A	probably damaging	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Fbn1	T	G	2: 125,254,628 (GRCm39)	T212P	possibly damaging	Het
Fuca2	A	G	10: 13,381,609 (GRCm39)	Y174C	probably damaging	Het
Gabarap	C	T	11: 69,882,515 (GRCm39)		probably benign	Het
Gdf2	A	G	14: 33,667,198 (GRCm39)	T307A	probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Glyatl3	T	C	17: 41,221,975 (GRCm39)	D93G	probably benign	Het
Gm266	C	T	12: 111,451,615 (GRCm39)	R197K	possibly damaging	Het
Gns	G	A	10: 121,228,683 (GRCm39)	R498H	probably damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
Grk6	T	C	13: 55,602,177 (GRCm39)	W335R	probably damaging	Het
Helz2	T	C	2: 180,873,173 (GRCm39)	E2379G	probably benign	Het
Hmx2	A	T	7: 131,157,588 (GRCm39)	D234V	probably damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Ipo9	CCT	CCTTCT	1: 135,314,020 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,314,013 (GRCm39)		probably benign	Het
Itpkc	A	G	7: 26,919,075 (GRCm39)	V397A	possibly damaging	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Kdr	T	C	5: 76,129,083 (GRCm39)	T188A	possibly damaging	Het
Kif18a	T	A	2: 109,163,848 (GRCm39)	N732K	probably benign	Het
Laptm4b	G	T	15: 34,238,478 (GRCm39)	M3I	probably benign	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Man1a	T	C	10: 53,811,094 (GRCm39)	N338S	probably damaging	Het
Mical3	A	T	6: 121,008,095 (GRCm39)		probably null	Het
Micall1	T	C	15: 79,014,995 (GRCm39)	Y751H	probably damaging	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myh2	A	G	11: 67,080,158 (GRCm39)	E1124G	probably damaging	Het
Myo10	A	G	15: 25,714,194 (GRCm39)	E87G	probably benign	Het
Nat10	T	C	2: 103,561,648 (GRCm39)		probably null	Het
Nipa1	C	A	7: 55,647,259 (GRCm39)		probably null	Het
Nrbp1	A	G	5: 31,405,273 (GRCm39)	E287G	possibly damaging	Het
Nup188	T	A	2: 30,226,718 (GRCm39)	I1165N	possibly damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or14j4	T	G	17: 37,921,362 (GRCm39)	E93D	probably benign	Het
Or2y13	A	G	11: 49,414,666 (GRCm39)	I39V	probably benign	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4k48	C	A	2: 111,475,566 (GRCm39)	V259L	probably benign	Het
Or51a10	C	T	7: 103,699,507 (GRCm39)	G18D	probably damaging	Het
Or6c1b	A	G	10: 129,273,616 (GRCm39)	K312E	probably benign	Het
Or9g3	C	T	2: 85,590,021 (GRCm39)	R233H	probably benign	Het
Panx3	G	C	9: 37,577,969 (GRCm39)	S87W	probably damaging	Het
Parp8	T	A	13: 117,031,422 (GRCm39)	D430V	probably benign	Het
Pcdhb11	A	G	18: 37,555,176 (GRCm39)	N169D	probably benign	Het
Pdzd2	C	A	15: 12,406,645 (GRCm39)	G605V	probably damaging	Het
Phkg2	G	A	7: 127,181,386 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,594,119 (GRCm39)	K1331N	probably benign	Het
Plcb4	G	A	2: 135,818,019 (GRCm39)	V762M	probably damaging	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Pot1a	T	C	6: 25,750,043 (GRCm39)		probably null	Het
Prb1a	T	A	6: 132,184,166 (GRCm39)	Q489L	unknown	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psme4	A	G	11: 30,770,998 (GRCm39)	Y782C	possibly damaging	Het
Rab11fip5	T	C	6: 85,314,210 (GRCm39)		probably null	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rit2	A	G	18: 31,286,766 (GRCm39)	F140L	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Rorc	G	A	3: 94,296,833 (GRCm39)	R271Q	probably benign	Het
Sall3	A	T	18: 81,013,046 (GRCm39)	M1130K	probably damaging	Het
Sart3	T	C	5: 113,902,154 (GRCm39)	E141G	probably damaging	Het
Serpina9	T	C	12: 103,974,568 (GRCm39)	D195G	probably benign	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Tars3	A	T	7: 65,308,645 (GRCm39)	I272L	probably benign	Het
Tas2r115	T	C	6: 132,714,321 (GRCm39)	K210R	probably benign	Het
Tdpoz3	C	T	3: 93,734,206 (GRCm39)	H294Y	probably benign	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tigd4	A	G	3: 84,501,670 (GRCm39)	T196A	possibly damaging	Het
Treh	G	A	9: 44,592,438 (GRCm39)	M54I	probably damaging	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257 (GRCm39)	A157V	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,553,091 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,382,501 (GRCm39)	T610A	possibly damaging	Het
Zfp606	T	C	7: 12,213,653 (GRCm39)	I4T	probably damaging	Het
Zfp638	T	A	6: 83,963,578 (GRCm39)	N1918K	probably damaging	Het
Zfp65	G	T	13: 67,856,311 (GRCm39)	H333N	probably damaging	Het

Other mutations in Ddb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Ddb1	APN	19	10,589,028 (GRCm39)	missense	possibly damaging	0.85
IGL00742:Ddb1	APN	19	10,588,124 (GRCm39)	missense	probably benign
IGL01161:Ddb1	APN	19	10,583,071 (GRCm39)	start codon destroyed	probably null	1.00
IGL01364:Ddb1	APN	19	10,605,024 (GRCm39)	critical splice donor site	probably null
IGL01804:Ddb1	APN	19	10,590,382 (GRCm39)	missense	probably damaging	1.00
IGL01812:Ddb1	APN	19	10,590,382 (GRCm39)	missense	probably damaging	1.00
IGL02523:Ddb1	APN	19	10,604,996 (GRCm39)	missense	probably damaging	1.00
IGL02609:Ddb1	APN	19	10,599,830 (GRCm39)	missense	possibly damaging	0.93
IGL02664:Ddb1	APN	19	10,585,247 (GRCm39)	missense	probably benign
IGL03033:Ddb1	APN	19	10,603,290 (GRCm39)	missense	possibly damaging	0.59
IGL03092:Ddb1	APN	19	10,590,309 (GRCm39)	missense	probably damaging	1.00
IGL03110:Ddb1	APN	19	10,590,309 (GRCm39)	missense	probably damaging	1.00
IGL03256:Ddb1	APN	19	10,599,225 (GRCm39)	missense	probably benign	0.01
Dubitable	UTSW	19	10,599,863 (GRCm39)	critical splice donor site	probably null
Indubitable	UTSW	19	10,585,275 (GRCm39)	critical splice donor site	probably null
Van_der_waals	UTSW	19	10,590,280 (GRCm39)	missense	probably benign	0.11
PIT4445001:Ddb1	UTSW	19	10,603,334 (GRCm39)	missense	probably damaging	1.00
R0028:Ddb1	UTSW	19	10,596,610 (GRCm39)	missense	probably damaging	1.00
R0589:Ddb1	UTSW	19	10,599,080 (GRCm39)	missense	probably benign	0.02
R0893:Ddb1	UTSW	19	10,590,280 (GRCm39)	missense	probably benign	0.11
R1374:Ddb1	UTSW	19	10,585,682 (GRCm39)	missense	probably damaging	1.00
R1611:Ddb1	UTSW	19	10,604,128 (GRCm39)	critical splice donor site	probably null
R1611:Ddb1	UTSW	19	10,590,252 (GRCm39)	missense	probably damaging	1.00
R1661:Ddb1	UTSW	19	10,606,444 (GRCm39)	missense	probably benign	0.00
R1835:Ddb1	UTSW	19	10,603,957 (GRCm39)	missense	probably damaging	1.00
R2036:Ddb1	UTSW	19	10,588,186 (GRCm39)	splice site	probably benign
R2094:Ddb1	UTSW	19	10,590,300 (GRCm39)	missense	probably benign
R2213:Ddb1	UTSW	19	10,585,691 (GRCm39)	missense	probably damaging	1.00
R2318:Ddb1	UTSW	19	10,603,992 (GRCm39)	missense	probably damaging	1.00
R2354:Ddb1	UTSW	19	10,584,337 (GRCm39)	missense	probably benign	0.03
R3150:Ddb1	UTSW	19	10,590,346 (GRCm39)	missense	probably benign	0.02
R3162:Ddb1	UTSW	19	10,603,335 (GRCm39)	missense	probably damaging	0.99
R3162:Ddb1	UTSW	19	10,603,335 (GRCm39)	missense	probably damaging	0.99
R3606:Ddb1	UTSW	19	10,605,857 (GRCm39)	missense	probably damaging	1.00
R4050:Ddb1	UTSW	19	10,605,171 (GRCm39)	missense	probably benign	0.00
R5157:Ddb1	UTSW	19	10,599,728 (GRCm39)	missense	probably benign	0.01
R6244:Ddb1	UTSW	19	10,603,287 (GRCm39)	missense	probably damaging	0.99
R6249:Ddb1	UTSW	19	10,583,084 (GRCm39)	nonsense	probably null
R6812:Ddb1	UTSW	19	10,599,863 (GRCm39)	critical splice donor site	probably null
R7337:Ddb1	UTSW	19	10,605,195 (GRCm39)	missense	possibly damaging	0.88
R7460:Ddb1	UTSW	19	10,585,275 (GRCm39)	critical splice donor site	probably null
R7737:Ddb1	UTSW	19	10,603,338 (GRCm39)	missense	possibly damaging	0.93
R7903:Ddb1	UTSW	19	10,585,712 (GRCm39)	missense	probably benign	0.12
R8288:Ddb1	UTSW	19	10,585,712 (GRCm39)	missense	probably benign	0.12
R8376:Ddb1	UTSW	19	10,596,669 (GRCm39)	missense	probably damaging	1.00
R8970:Ddb1	UTSW	19	10,585,808 (GRCm39)	missense	probably benign	0.01
R9720:Ddb1	UTSW	19	10,585,724 (GRCm39)	missense	probably benign
RF016:Ddb1	UTSW	19	10,605,222 (GRCm39)	missense	probably damaging	1.00
X0050:Ddb1	UTSW	19	10,604,023 (GRCm39)	missense	possibly damaging	0.95
Z1088:Ddb1	UTSW	19	10,596,594 (GRCm39)	missense	probably damaging	0.99
Z1177:Ddb1	UTSW	19	10,585,760 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTAGAAGGGATTTCCGCCC -3'
(R):5'- AGTGAAGTCATGCTCATTTGTCC -3'

Sequencing Primer
(F):5'- CCCCTCGTGGCTTAGGGTG -3'
(R):5'- CTGGATAAGTTGCTGATGAGCCAC -3'

Posted On

2014-10-01