Mutagenetix > Incidental Mutation

Incidental Mutation 'R4797:Ddb2'

369113

Institutional Source

Beutler Lab

Gene Symbol

Ddb2

Ensembl Gene

ENSMUSG00000002109

Gene Name

damage specific DNA binding protein 2

Synonyms

2610043A19Rik, p48

MMRRC Submission

042421-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R4797 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91041917-91067327 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 91067163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028696] [ENSMUST00000111352]

AlphaFold

Q99J79

Predicted Effect

probably benign
Transcript: ENSMUST00000028696

SMART Domains

Protein: ENSMUSP00000028696
Gene: ENSMUSG00000002109

Domain	Start	End	E-Value	Type
low complexity region	48	69	N/A	INTRINSIC
WD40	100	140	1.48e-2	SMART
WD40	144	185	7.92e1	SMART
WD40	187	229	7.36e1	SMART
WD40	231	271	3.14e-6	SMART
WD40	278	316	3.55e-5	SMART
Blast:WD40	379	419	1e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000111352

SMART Domains

Protein: ENSMUSP00000106984
Gene: ENSMUSG00000002109

Domain	Start	End	E-Value	Type
WD40	8	49	7.92e1	SMART
WD40	51	93	7.36e1	SMART
WD40	95	135	3.14e-6	SMART
WD40	142	180	3.55e-5	SMART
Blast:WD40	243	283	3e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181191

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mutant mice are prone to both spontaneous and UV-induced skin cancer. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,008,945 (GRCm39)	T1195A	probably benign	Het
Apobr	G	A	7: 126,186,756 (GRCm39)	E756K	probably benign	Het
Arpc3	A	G	5: 122,542,215 (GRCm39)	E77G	possibly damaging	Het
Atp2b2	A	T	6: 113,766,847 (GRCm39)	M464K	possibly damaging	Het
Atxn7l2	A	G	3: 108,111,866 (GRCm39)	S379P	probably damaging	Het
Ccdc91	A	T	6: 147,493,641 (GRCm39)	E344D	unknown	Het
Cdc42bpg	G	A	19: 6,370,477 (GRCm39)	R1190Q	probably damaging	Het
Cdh17	C	A	4: 11,810,390 (GRCm39)	Q694K	probably benign	Het
Chordc1	G	T	9: 18,203,672 (GRCm39)		probably benign	Het
Copg1	A	G	6: 87,880,450 (GRCm39)		probably benign	Het
Dcbld1	T	C	10: 52,160,223 (GRCm39)	V37A	probably damaging	Het
Dok5	A	T	2: 170,672,042 (GRCm39)	R115*	probably null	Het
Drc7	T	C	8: 95,800,925 (GRCm39)	I649T	probably damaging	Het
Efr3a	A	G	15: 65,729,437 (GRCm39)	T713A	probably damaging	Het
Epg5	G	A	18: 78,073,614 (GRCm39)	D2494N	probably benign	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Glb1l3	T	C	9: 26,739,742 (GRCm39)	D356G	probably damaging	Het
Gm1818	A	T	12: 48,602,393 (GRCm39)		noncoding transcript	Het
Gsta5	A	T	9: 78,211,679 (GRCm39)	Y147F	probably benign	Het
Hcrtr2	C	A	9: 76,161,816 (GRCm39)	M191I	probably damaging	Het
Heatr1	G	A	13: 12,426,929 (GRCm39)	E685K	probably benign	Het
Hsd3b2	A	T	3: 98,618,979 (GRCm39)	L322Q	probably damaging	Het
Hsd3b9	T	A	3: 98,363,747 (GRCm39)	R62*	probably null	Het
Htra4	T	C	8: 25,523,675 (GRCm39)	T297A	probably damaging	Het
Il22	C	A	10: 118,041,058 (GRCm39)	R55S	probably damaging	Het
Ints1	G	A	5: 139,757,631 (GRCm39)	T324M	possibly damaging	Het
Ints15	A	G	5: 143,297,504 (GRCm39)	F181S	probably benign	Het
Ints7	T	C	1: 191,329,045 (GRCm39)	V268A	probably damaging	Het
Kctd20	G	A	17: 29,185,766 (GRCm39)	V370I	probably damaging	Het
Lama1	T	A	17: 68,023,770 (GRCm39)	M55K	probably benign	Het
Larp1	C	A	11: 57,938,806 (GRCm39)	S494*	probably null	Het
Ldb3	A	T	14: 34,277,470 (GRCm39)	H262Q	possibly damaging	Het
Lepr	C	A	4: 101,637,244 (GRCm39)	T711K	possibly damaging	Het
Mon2	T	C	10: 122,852,422 (GRCm39)	I984V	probably benign	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Oasl1	A	G	5: 115,066,217 (GRCm39)	M112V	probably benign	Het
Or2d2b	A	T	7: 106,705,234 (GRCm39)	M278K	probably benign	Het
Or6c214	A	T	10: 129,590,390 (GRCm39)	S310T	probably benign	Het
Or7c19	G	T	8: 85,957,567 (GRCm39)	A148S	probably benign	Het
P2ry1	T	A	3: 60,910,881 (GRCm39)	S7T	probably benign	Het
Pidd1	G	T	7: 141,022,899 (GRCm39)	R98S	possibly damaging	Het
Pkd1l1	A	C	11: 8,911,340 (GRCm39)	F312L	unknown	Het
Pla2r1	A	T	2: 60,334,524 (GRCm39)	M416K	possibly damaging	Het
Pold1	T	C	7: 44,191,325 (GRCm39)	E194G	possibly damaging	Het
Poldip2	T	A	11: 78,404,813 (GRCm39)	Y77N	probably damaging	Het
Ppp2r3d	G	T	9: 101,089,179 (GRCm39)	N381K	probably benign	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsu1	A	G	2: 13,221,537 (GRCm39)		probably benign	Het
Selenoi	T	A	5: 30,457,740 (GRCm39)	W90R	probably damaging	Het
Spag17	T	A	3: 99,891,795 (GRCm39)	D216E	possibly damaging	Het
Spata31	C	A	13: 65,070,556 (GRCm39)	Y901*	probably null	Het
Ssrp1	T	A	2: 84,876,066 (GRCm39)	Y607*	probably null	Het
Stk10	T	A	11: 32,548,471 (GRCm39)	N346K	probably benign	Het
Surf1	G	T	2: 26,806,358 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,084,163 (GRCm39)	E283V	probably damaging	Het
Tg	G	A	15: 66,629,855 (GRCm39)		probably null	Het
Traf1	A	T	2: 34,846,289 (GRCm39)	D42E	probably benign	Het
Ttn	T	C	2: 76,571,209 (GRCm39)	I26561M	probably damaging	Het
Ubp1	T	C	9: 113,785,070 (GRCm39)	Y128H	probably damaging	Het
Vmn1r216	T	A	13: 23,283,506 (GRCm39)	I63K	probably benign	Het
Vmn1r49	T	A	6: 90,049,612 (GRCm39)	H130L	probably benign	Het
Vmn2r90	C	T	17: 17,932,567 (GRCm39)	T158I	probably damaging	Het
Vps13d	T	C	4: 144,780,725 (GRCm39)	S885G	probably damaging	Het

Other mutations in Ddb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0054:Ddb2	UTSW	2	91,065,165 (GRCm39)	missense	probably benign	0.14
R0054:Ddb2	UTSW	2	91,065,165 (GRCm39)	missense	probably benign	0.14
R1537:Ddb2	UTSW	2	91,065,234 (GRCm39)	missense	probably benign
R1679:Ddb2	UTSW	2	91,064,595 (GRCm39)	missense	probably benign	0.00
R1707:Ddb2	UTSW	2	91,064,554 (GRCm39)	missense	probably damaging	1.00
R2858:Ddb2	UTSW	2	91,047,022 (GRCm39)	missense	probably damaging	1.00
R4985:Ddb2	UTSW	2	91,042,643 (GRCm39)	splice site	probably null
R5256:Ddb2	UTSW	2	91,067,073 (GRCm39)	missense	probably damaging	0.98
R5666:Ddb2	UTSW	2	91,042,926 (GRCm39)	missense	probably damaging	1.00
R5670:Ddb2	UTSW	2	91,042,926 (GRCm39)	missense	probably damaging	1.00
R5768:Ddb2	UTSW	2	91,042,337 (GRCm39)	missense	possibly damaging	0.67
R7324:Ddb2	UTSW	2	91,067,229 (GRCm39)	start gained	probably benign
R8296:Ddb2	UTSW	2	91,042,645 (GRCm39)	missense	probably damaging	1.00
R9123:Ddb2	UTSW	2	91,064,593 (GRCm39)	nonsense	probably null
R9125:Ddb2	UTSW	2	91,064,593 (GRCm39)	nonsense	probably null
R9323:Ddb2	UTSW	2	91,042,337 (GRCm39)	missense	possibly damaging	0.67
R9326:Ddb2	UTSW	2	91,047,559 (GRCm39)	missense	probably benign	0.16
R9525:Ddb2	UTSW	2	91,065,180 (GRCm39)	missense	probably benign
R9556:Ddb2	UTSW	2	91,065,202 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCCAAGAACTGCTTCAGAAG -3'
(R):5'- GCTAAAAGTAAAGCAGCCCG -3'

Sequencing Primer
(F):5'- TTCAGAAGCCCAGGCACAAG -3'
(R):5'- TTCTCCACGGAGGCTTTT -3'

Posted On

2016-02-04