Mutagenetix > Incidental Mutation

Incidental Mutation 'RF016:Ddb1'

603595

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF016 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10582961-10607186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10605222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1070 (H1070R)

Ref Sequence

ENSEMBL: ENSMUSP00000025649 (fasta)

Gene Model

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

AlphaFold

Q3U1J4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025649
AA Change: H1070R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740
AA Change: H1070R

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGCTGTGGC	TGCTGTGGCGGCTGTGGC	1: 82,891,298 (GRCm39)		probably benign	Het
Abi3bp	GCCCACGACCC	GCCCACGACCCACGACCC	16: 56,447,950 (GRCm39)		probably null	Het
Amer3	A	G	1: 34,626,201 (GRCm39)	I147V	probably damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,962 (GRCm39)		probably benign	Het
Ankhd1	GCGGCG	GCGGCGACGGCG	18: 36,693,963 (GRCm39)		probably benign	Het
Ankzf1	G	A	1: 75,172,477 (GRCm39)	R259H	probably damaging	Het
Apol9b	T	C	15: 77,619,714 (GRCm39)	V170A	probably benign	Het
Asb3	A	G	11: 31,011,407 (GRCm39)	I267M	possibly damaging	Het
Baz2a	A	G	10: 127,961,185 (GRCm39)	E1636G	probably benign	Het
Birc6	G	T	17: 74,996,319 (GRCm39)	V4513F	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,162,674 (GRCm39)		probably null	Het
Ccdc113	G	A	8: 96,264,733 (GRCm39)	R81H	probably benign	Het
Ccdc27	T	C	4: 154,120,567 (GRCm39)	R410G	probably benign	Het
Cdhr5	A	G	7: 140,852,097 (GRCm39)	V435A	possibly damaging	Het
Cercam	T	C	2: 29,759,317 (GRCm39)	S15P	unknown	Het
Cntrl	T	C	2: 35,009,998 (GRCm39)	V224A	probably benign	Het
Comtd1	T	A	14: 21,898,664 (GRCm39)	Q56L	probably benign	Het
Cul9	CCT	CCTACT	17: 46,811,789 (GRCm39)		probably null	Het
Cyb5r4	AGGGA	AGGGATGGGACAGACCCACTGCCCCGGGA	9: 86,922,497 (GRCm39)		probably benign	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGA	TGTGACAGACACACTGCCCAGGGACGTGACAGACACACTGCCCAGGGA	9: 86,922,478 (GRCm39)		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGACAGACACACTGACCAGGGA	9: 86,922,494 (GRCm39)		probably benign	Het
Cyld	T	A	8: 89,432,069 (GRCm39)	Y22*	probably null	Het
Dbt	T	C	3: 116,333,363 (GRCm39)	Y278H	probably damaging	Het
Dek	G	T	13: 47,251,662 (GRCm39)	S248*	probably null	Het
Dixdc1	T	C	9: 50,604,941 (GRCm39)	T300A	probably benign	Het
Dusp8	A	T	7: 141,636,589 (GRCm39)	S334T	probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,067 (GRCm39)		probably benign	Het
Ehbp1	T	C	11: 22,096,646 (GRCm39)	N306S	probably benign	Het
Fcer1a	T	C	1: 173,053,086 (GRCm39)	I37V	possibly damaging	Het
Fgfr2	G	T	7: 129,779,410 (GRCm39)	Q639K	probably benign	Het
Ftdc1	T	A	16: 58,437,230 (GRCm39)	N26I	probably damaging	Het
Gab3	CTT	CTTATT	X: 74,043,591 (GRCm39)		probably null	Het
Gins4	T	C	8: 23,722,626 (GRCm39)	M98V	probably benign	Het
Gm8369	GTGTGTGT	GTGTGTGTTTGTGTGT	19: 11,489,118 (GRCm39)		probably null	Het
Grik1	G	A	16: 87,831,074 (GRCm39)	S232L		Het
Gsg1l	A	G	7: 125,619,794 (GRCm39)		probably null	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
H2-DMb1	A	T	17: 34,376,360 (GRCm39)	S160C	probably damaging	Het
Hsdl2	GCAGCCACAGCTGCAG	GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG	4: 59,610,643 (GRCm39)		probably benign	Het
Iqcf4	TTTCCTTTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT	9: 106,447,808 (GRCm39)		probably benign	Het
Jag1	T	A	2: 136,938,176 (GRCm39)	T275S	probably benign	Het
Klhdc2	T	A	12: 69,350,660 (GRCm39)	I158K	probably damaging	Het
Krtap28-10	TCCC	TCCCGCACCC	1: 83,019,844 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,339,549 (GRCm39)	M1121L	probably benign	Het
M6pr	C	T	6: 122,292,124 (GRCm39)	A152V	probably damaging	Het
Mapkapk5	T	C	5: 121,671,379 (GRCm39)	Y218C	probably damaging	Het
Mkrn1	C	T	6: 39,396,925 (GRCm39)	V26I		Het
Mro	CA	CAAACTCGGA	18: 74,003,035 (GRCm39)		probably null	Het
Mrpl3	T	C	9: 104,952,452 (GRCm39)	V303A	probably benign	Het
Nefh	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,022 (GRCm39)		probably benign	Het
Nefh	TCACCTGGGGACT	TCACCTGGGGACTCGGCCCCACCTGGGGACT	11: 4,891,023 (GRCm39)		probably benign	Het
Nid2	GGCTAACACCGC	GGC	14: 19,801,431 (GRCm39)		probably benign	Het
Nusap1	CAAGCTGAGA	CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA	2: 119,458,082 (GRCm39)		probably benign	Het
Or10n7-ps1	A	ATAGG	9: 39,598,050 (GRCm39)		probably null	Het
Or6d12	G	T	6: 116,493,004 (GRCm39)	A89S	probably benign	Het
Ovol1	A	G	19: 5,603,640 (GRCm39)	V87A	probably benign	Het
Pdpk1	T	A	17: 24,312,255 (GRCm39)	E290D	probably benign	Het
Pkd1l3	T	A	8: 110,350,174 (GRCm39)	S340T	probably benign	Het
Pknox2	ACACACACACACACACTCAC	ACAC	9: 36,820,905 (GRCm39)		probably benign	Het
Pou3f1	GC	GCGGCGCC	4: 124,551,602 (GRCm39)		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,577,475 (GRCm39)		probably benign	Het
Prpf6	A	G	2: 181,273,869 (GRCm39)	M338V	probably benign	Het
Psg28	G	T	7: 18,156,847 (GRCm39)	L463I	probably damaging	Het
Ptprd	T	C	4: 76,046,892 (GRCm39)	D211G	probably benign	Het
Pus1	T	C	5: 110,924,424 (GRCm39)	H160R	not run	Het
Ranbp17	T	C	11: 33,279,511 (GRCm39)	T582A	probably damaging	Het
Rasa1	G	A	13: 85,371,607 (GRCm39)	T878I	possibly damaging	Het
Rbm20	A	G	19: 53,802,163 (GRCm39)	T224A	probably benign	Het
Scgb1b12	A	T	7: 32,033,920 (GRCm39)	N60I	probably damaging	Het
Sh3bp4	T	C	1: 89,072,744 (GRCm39)	S531P	probably benign	Het
Sh3pxd2b	TGCCTG	TGCCTGCGCCTG	11: 32,373,053 (GRCm39)		probably benign	Het
Snrnp200	T	C	2: 127,072,476 (GRCm39)	L1291P	probably damaging	Het
Spmap2l	CTCCCCAGTCCCGCAAGGCCAG	CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG	5: 77,164,255 (GRCm39)		probably benign	Het
Sppl2a	C	T	2: 126,769,694 (GRCm39)	R54Q	probably benign	Het
Sulf2	A	T	2: 165,924,523 (GRCm39)	L521Q	probably benign	Het
Supv3l1	C	A	10: 62,273,287 (GRCm39)	V317F	possibly damaging	Het
Tcof1	TCC	TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC	18: 60,966,647 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,138 (GRCm39)		probably benign	Het
Unc13b	CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,347 (GRCm39)		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,350 (GRCm39)		probably benign	Het
Usp38	A	G	8: 81,740,522 (GRCm39)	S182P	probably benign	Het
Vmn2r24	T	C	6: 123,781,174 (GRCm39)	V460A	probably benign	Het
Wdr97	A	T	15: 76,240,172 (GRCm39)	I331F		Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,899,745 (GRCm39)		probably benign	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
R2142:Ddb1	UTSW	19	10,596,490 (GRCm39)	critical splice donor site	probably null
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
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'- ACAGTCAACGGCATGATAGG -3'
(R):5'- ACATAGGCAGCAGCTTTTCCAG -3'

Sequencing Primer
(F):5'- ATTCCTGTAGGGCACACTCAG -3'
(R):5'- AGCAGCTTTTCCAGGCCTTG -3'

Posted On

2019-12-04