Mutagenetix > Incidental Mutation

Incidental Mutation 'R9323:Ddb2'

706299

Institutional Source

Beutler Lab

Gene Symbol

Ddb2

Ensembl Gene

ENSMUSG00000002109

Gene Name

damage specific DNA binding protein 2

Synonyms

2610043A19Rik, p48

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91041917-91067327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91042337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 419 (S419G)

Ref Sequence

ENSEMBL: ENSMUSP00000028696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002172] [ENSMUST00000028696] [ENSMUST00000111352] [ENSMUST00000150403]

AlphaFold

Q99J79

Predicted Effect

probably benign
Transcript: ENSMUST00000002172

SMART Domains

Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:His_Phos_2	54	330	1.5e-35	PFAM
transmembrane domain	382	404	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028696
AA Change: S419G

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028696
Gene: ENSMUSG00000002109
AA Change: S419G

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

possibly damaging
Transcript: ENSMUST00000111352
AA Change: S283G

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106984
Gene: ENSMUSG00000002109
AA Change: S283G

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: ENSMUST00000124131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135927

Predicted Effect

probably benign
Transcript: ENSMUST00000150403

SMART Domains

Protein: ENSMUSP00000119144
Gene: ENSMUSG00000002103

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:His_Phos_2	32	159	4e-35	PFAM
Pfam:His_Phos_2	147	297	5.1e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152277

Meta Mutation Damage Score

0.1435

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	G	A	16: 8,420,235 (GRCm39)	W178*	probably null	Het
Alx1	G	A	10: 102,858,124 (GRCm39)	R192*	probably null	Het
Apom	A	G	17: 35,350,633 (GRCm39)	C23R	probably damaging	Het
Asap2	A	G	12: 21,162,148 (GRCm39)	N35S	probably benign	Het
Atf6	A	T	1: 170,682,682 (GRCm39)	Y43*	probably null	Het
Atosa	C	T	9: 74,883,415 (GRCm39)		probably benign	Het
Bag4	T	C	8: 26,261,361 (GRCm39)	S127G	possibly damaging	Het
Bag4	G	T	8: 26,275,180 (GRCm39)	S7*	probably null	Het
Ccdc88b	A	G	19: 6,826,475 (GRCm39)	L1080P	probably damaging	Het
Cdcp3	T	A	7: 130,828,401 (GRCm39)	N285K	probably damaging	Het
Cdkl2	A	T	5: 92,168,107 (GRCm39)	D362E	probably benign	Het
Cep170	A	G	1: 176,586,068 (GRCm39)	S575P	probably benign	Het
Col4a2	C	T	8: 11,493,413 (GRCm39)	P1374L	possibly damaging	Het
Cpt2	T	C	4: 107,761,556 (GRCm39)	H617R	probably benign	Het
Cyp2d22	A	G	15: 82,258,207 (GRCm39)	S138P	probably damaging	Het
Cyp2j11	T	C	4: 96,195,619 (GRCm39)	D359G	probably benign	Het
Dmrtc2	A	T	7: 24,572,341 (GRCm39)	I121F	probably benign	Het
Dus1l	C	T	11: 120,684,724 (GRCm39)	R149H	probably damaging	Het
Fam90a1a	T	A	8: 22,453,640 (GRCm39)	Y332N	probably benign	Het
Fbxo47	A	T	11: 97,770,254 (GRCm39)	V46D	probably benign	Het
Grep1	A	G	17: 23,937,387 (GRCm39)	S54P	unknown	Het
Grpel1	T	A	5: 36,628,007 (GRCm39)	V96E	possibly damaging	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Igkv4-80	C	T	6: 68,993,751 (GRCm39)	A47T	probably damaging	Het
Il1a	T	A	2: 129,149,826 (GRCm39)	I25F	probably benign	Het
Ireb2	T	A	9: 54,811,523 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,328,979 (GRCm39)	Y131C	probably damaging	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Lancl1	T	A	1: 67,077,794 (GRCm39)		probably benign	Het
Lpl	G	A	8: 69,340,196 (GRCm39)	V64M	possibly damaging	Het
Marchf10	T	C	11: 105,280,581 (GRCm39)	H568R	probably damaging	Het
Mib1	G	A	18: 10,775,685 (GRCm39)	V546M	probably damaging	Het
Mss51	A	T	14: 20,534,939 (GRCm39)	I277N	probably benign	Het
Mybpc1	A	G	10: 88,360,829 (GRCm39)		probably null	Het
Myct1	A	C	10: 5,554,195 (GRCm39)	I21L	probably benign	Het
Myo5c	C	A	9: 75,153,531 (GRCm39)	A139E	probably damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Npy2r	A	T	3: 82,447,728 (GRCm39)	I349N	possibly damaging	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Or10g7	T	C	9: 39,905,360 (GRCm39)	S85P	possibly damaging	Het
Or14j2	A	C	17: 37,886,135 (GRCm39)	Y60D	probably damaging	Het
Or52n20	T	C	7: 104,320,220 (GRCm39)	F104L	possibly damaging	Het
Or5p6	C	T	7: 107,631,230 (GRCm39)	V107I	probably benign	Het
Or6c3b	A	T	10: 129,527,829 (GRCm39)	V27D	probably benign	Het
Or8d23	T	C	9: 38,841,818 (GRCm39)	V117A	probably benign	Het
Pde6b	A	T	5: 108,551,298 (GRCm39)	N194I	probably damaging	Het
Polg	TCTGGATGA	TCTGGATGACTGGATGA	7: 79,114,779 (GRCm39)		probably null	Het
Polg	GA	GACTGGAGCA	7: 79,114,786 (GRCm39)		probably null	Het
Ptpn9	T	C	9: 56,934,701 (GRCm39)	M155T	possibly damaging	Het
Ret	A	G	6: 118,158,975 (GRCm39)	Y146H	probably benign	Het
Sdf2l1	T	C	16: 16,949,498 (GRCm39)	H116R	probably damaging	Het
Shld2	A	G	14: 33,981,596 (GRCm39)	V514A	probably damaging	Het
Slc37a1	T	C	17: 31,552,643 (GRCm39)	I316T	probably damaging	Het
Slc4a11	A	C	2: 130,528,830 (GRCm39)	L473R	possibly damaging	Het
Smg7	A	G	1: 152,731,753 (GRCm39)	M344T	probably benign	Het
Smg9	T	C	7: 24,114,465 (GRCm39)	L268P	probably damaging	Het
Tiparp	C	T	3: 65,439,272 (GRCm39)	T196I	probably benign	Het
Trappc12	A	G	12: 28,742,491 (GRCm39)		probably null	Het
Trappc9	A	T	15: 72,565,431 (GRCm39)	N953K	probably benign	Het
Trpa1	A	G	1: 14,968,564 (GRCm39)	V428A	probably benign	Het
Utp20	T	C	10: 88,583,170 (GRCm39)	R2728G	probably damaging	Het
Zfp612	A	G	8: 110,815,372 (GRCm39)	E193G	probably benign	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
R4797:Ddb2	UTSW	2	91,067,163 (GRCm39)	utr 5 prime	probably benign
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
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'- TGTCACAAGTGTCCCTGCTC -3'
(R):5'- CAGTGGAGGCTGAATTCACC -3'

Sequencing Primer
(F):5'- TGCTCCAACCCTAAGAATTGGG -3'
(R):5'- AGGCTGAATTCACCGTAGCTCTG -3'

Posted On

2022-04-18