Mutagenetix > Incidental Mutation

Incidental Mutation 'R1661:Ddb1'

186798

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

039697-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1661 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10582961-10607186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10606444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1114 (Y1114F)

Ref Sequence

ENSEMBL: ENSMUSP00000025649 (fasta)

Gene Model

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

AlphaFold

Q3U1J4

Predicted Effect

probably benign
Transcript: ENSMUST00000025649
AA Change: Y1114F

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

SMART Domains

Protein: ENSMUSP00000025649
Gene: ENSMUSG00000024740
AA Change: Y1114F

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,596,816 (GRCm39)	G423E	probably damaging	Het
Acox3	A	T	5: 35,760,371 (GRCm39)	H429L	probably damaging	Het
Adamts9	G	T	6: 92,857,604 (GRCm39)	Q895K	possibly damaging	Het
Ajm1	T	C	2: 25,469,167 (GRCm39)	D248G	possibly damaging	Het
Amotl2	T	A	9: 102,607,295 (GRCm39)	I701N	probably damaging	Het
Angel2	T	C	1: 190,669,664 (GRCm39)	Y115H	probably damaging	Het
Appbp2	T	C	11: 85,100,936 (GRCm39)		probably null	Het
Arhgap33	A	C	7: 30,231,748 (GRCm39)	C113W	probably damaging	Het
Asprv1	A	G	6: 86,605,718 (GRCm39)	N188S	probably damaging	Het
Atp8a2	T	C	14: 60,097,635 (GRCm39)	I798V	possibly damaging	Het
Caml	C	A	13: 55,779,784 (GRCm39)	L286I	probably benign	Het
Ccdc125	A	G	13: 100,830,081 (GRCm39)	I284V	probably benign	Het
Cep89	A	G	7: 35,117,105 (GRCm39)	T236A	possibly damaging	Het
Cfap61	T	C	2: 145,877,239 (GRCm39)		probably null	Het
Cog2	T	C	8: 125,269,629 (GRCm39)	F390L	probably benign	Het
Creg2	C	T	1: 39,662,372 (GRCm39)	W253*	probably null	Het
Cttnbp2	A	T	6: 18,434,982 (GRCm39)	I292K	probably benign	Het
Dnah6	T	C	6: 73,101,761 (GRCm39)	E1921G	probably benign	Het
Dync1h1	T	C	12: 110,622,791 (GRCm39)	F3494L	probably damaging	Het
F7	A	G	8: 13,085,209 (GRCm39)	I412V	probably benign	Het
Fam222b	A	G	11: 78,045,987 (GRCm39)	Y388C	probably damaging	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Fbxo32	A	C	15: 58,054,865 (GRCm39)	V156G	probably damaging	Het
Fem1b	C	T	9: 62,704,556 (GRCm39)	V235I	probably damaging	Het
Fnip2	A	G	3: 79,422,456 (GRCm39)	F108S	probably benign	Het
Fras1	A	T	5: 96,746,768 (GRCm39)	S613C	probably damaging	Het
Garin1a	G	C	6: 29,285,937 (GRCm39)	R132P	probably damaging	Het
Gm7276	C	A	18: 77,273,266 (GRCm39)		probably benign	Het
Gnb4	A	C	3: 32,644,188 (GRCm39)	L152*	probably null	Het
Hsd17b4	G	A	18: 50,293,282 (GRCm39)	E274K	probably benign	Het
Htr4	T	C	18: 62,545,305 (GRCm39)	I30T	probably damaging	Het
Ighmbp2	A	G	19: 3,317,246 (GRCm39)	L542P	probably damaging	Het
Ikzf2	T	A	1: 69,577,973 (GRCm39)	Y512F	probably damaging	Het
Itpr1	A	G	6: 108,459,858 (GRCm39)	N2051D	probably benign	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klhl22	C	A	16: 17,594,352 (GRCm39)	D160E	probably benign	Het
Kpna6	T	A	4: 129,551,264 (GRCm39)	R80S	probably benign	Het
Lclat1	A	G	17: 73,494,999 (GRCm39)	E142G	probably damaging	Het
Lrig3	T	C	10: 125,833,570 (GRCm39)	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,568,437 (GRCm39)	N1428I	unknown	Het
Map3k19	T	A	1: 127,745,393 (GRCm39)	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,887,813 (GRCm39)	W1696R	probably damaging	Het
Megf8	A	G	7: 25,063,272 (GRCm39)	T2543A	probably damaging	Het
Mfn1	T	G	3: 32,588,471 (GRCm39)	V66G	probably benign	Het
Muc15	C	T	2: 110,564,243 (GRCm39)	Q260*	probably null	Het
Nfkb1	T	C	3: 135,300,718 (GRCm39)	H616R	probably damaging	Het
Nnmt	A	G	9: 48,516,174 (GRCm39)	S29P	probably benign	Het
Nrde2	A	T	12: 100,116,119 (GRCm39)	S122T	probably benign	Het
Or10a2	T	C	7: 106,673,481 (GRCm39)	S149P	probably damaging	Het
Or4g16	T	C	2: 111,137,116 (GRCm39)	C189R	probably damaging	Het
Or7g33	C	T	9: 19,448,624 (GRCm39)	V201I	probably benign	Het
Pced1b	A	G	15: 97,282,594 (GRCm39)	H211R	probably benign	Het
Pcsk5	A	T	19: 17,424,938 (GRCm39)	S1622T	probably damaging	Het
Pde10a	A	G	17: 9,117,702 (GRCm39)	D26G	probably damaging	Het
Phf11a	A	T	14: 59,518,237 (GRCm39)	L170H	probably damaging	Het
Ppil6	A	G	10: 41,390,176 (GRCm39)	D307G	probably benign	Het
Ppp6r2	A	G	15: 89,137,254 (GRCm39)	D6G	possibly damaging	Het
Psmd12	A	T	11: 107,382,732 (GRCm39)	K212N	probably damaging	Het
Rc3h1	T	A	1: 160,786,993 (GRCm39)	V796E	probably benign	Het
Rgl1	T	C	1: 152,409,326 (GRCm39)	Y503C	probably damaging	Het
Ryr1	A	T	7: 28,801,163 (GRCm39)	I860N	probably damaging	Het
Saal1	A	T	7: 46,342,224 (GRCm39)	N406K	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,266,759 (GRCm39)	Y277N	probably damaging	Het
Slitrk1	A	T	14: 109,149,359 (GRCm39)	Y451N	probably damaging	Het
Smad1	T	C	8: 80,098,658 (GRCm39)	E52G	probably damaging	Het
Smarcd1	A	T	15: 99,605,519 (GRCm39)		probably null	Het
Smc3	A	G	19: 53,613,496 (GRCm39)	D403G	probably benign	Het
Srd5a2	A	T	17: 74,328,476 (GRCm39)	W201R	probably damaging	Het
Syt2	C	A	1: 134,675,358 (GRCm39)	A403D	probably damaging	Het
Tasor2	C	T	13: 3,623,860 (GRCm39)	S2030N	possibly damaging	Het
Tax1bp1	T	A	6: 52,713,897 (GRCm39)	S225R	probably benign	Het
Thap3	C	T	4: 152,070,161 (GRCm39)	V78M	probably damaging	Het
Thoc5	A	G	11: 4,869,792 (GRCm39)	K446R	probably benign	Het
Timmdc1	A	C	16: 38,331,079 (GRCm39)		probably null	Het
Tmem126b	G	T	7: 90,125,179 (GRCm39)	A2E	probably damaging	Het
Trim9	T	A	12: 70,301,887 (GRCm39)	R584W	probably damaging	Het
Vmn1r25	A	T	6: 57,955,446 (GRCm39)	I281N	probably damaging	Het
Wdr59	A	G	8: 112,205,994 (GRCm39)	F553S	probably damaging	Het
Wnt5a	T	C	14: 28,240,300 (GRCm39)	M150T	probably benign	Het
Zfp53	A	G	17: 21,729,766 (GRCm39)	T600A	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
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
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'- GGCCCTTTGTGGCCTTCCATAATG -3'
(R):5'- TAGGGAAAAGCCTCCCATGCCAAG -3'

Sequencing Primer
(F):5'- CCTGGGCTCTCTAGCAAGATTAG -3'
(R):5'- CCATGCCAAGAAAACAAGGGTG -3'

Posted On

2014-05-09