Mutagenetix > Incidental Mutation

Incidental Mutation 'R8296:Ddb2'

638920

Institutional Source

Beutler Lab

Gene Symbol

Ddb2

Ensembl Gene

ENSMUSG00000002109

Gene Name

damage specific DNA binding protein 2

Synonyms

2610043A19Rik, p48

MMRRC Submission

067785-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R8296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91041917-91067327 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91042645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 405 (D405G)

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

probably damaging
Transcript: ENSMUST00000028696
AA Change: D405G

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

SMART Domains

Protein: ENSMUSP00000028696
Gene: ENSMUSG00000002109
AA Change: D405G

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 damaging
Transcript: ENSMUST00000111352
AA Change: D269G

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

SMART Domains

Protein: ENSMUSP00000106984
Gene: ENSMUSG00000002109
AA Change: D269G

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

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

Meta Mutation Damage Score

0.4579

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,415,896 (GRCm39)	L663Q	probably damaging	Het
2610008E11Rik	C	G	10: 78,903,568 (GRCm39)	R249S	probably benign	Het
6030469F06Rik	A	G	12: 31,235,058 (GRCm39)	N146S	noncoding transcript	Het
Abcb5	G	A	12: 118,838,467 (GRCm39)	P1032S	probably benign	Het
Acvr2a	A	T	2: 48,789,736 (GRCm39)	D493V	possibly damaging	Het
Amacr	A	G	15: 10,995,004 (GRCm39)	D272G	probably benign	Het
Bach1	A	C	16: 87,526,467 (GRCm39)	K643T	probably damaging	Het
Bmt2	T	C	6: 13,628,672 (GRCm39)	Y337C	probably damaging	Het
Bsn	A	G	9: 107,994,578 (GRCm39)	S566P	probably benign	Het
Cass4	A	C	2: 172,269,094 (GRCm39)	D392A	probably benign	Het
Cbx2	A	G	11: 118,918,954 (GRCm39)	E173G	probably damaging	Het
Ccdc166	G	C	15: 75,852,860 (GRCm39)	A369G	probably benign	Het
Ccdc77	G	A	6: 120,308,870 (GRCm39)	T315M	possibly damaging	Het
Ceacam10	C	A	7: 24,480,513 (GRCm39)	H215N	unknown	Het
Ces1e	C	T	8: 93,929,947 (GRCm39)	M445I	probably benign	Het
Ces2b	T	G	8: 105,563,112 (GRCm39)	V350G	possibly damaging	Het
Chtf18	A	G	17: 25,941,165 (GRCm39)	L611P	probably benign	Het
Col9a1	C	A	1: 24,217,380 (GRCm39)	P19T	unknown	Het
Csf1r	A	T	18: 61,250,750 (GRCm39)	N487I	probably damaging	Het
Csl	A	T	10: 99,594,161 (GRCm39)	H301Q	probably damaging	Het
Cyp24a1	G	A	2: 170,332,036 (GRCm39)	T330M	probably damaging	Het
Degs1	A	G	1: 182,110,241 (GRCm39)	F10L	probably benign	Het
Dhrs2	T	A	14: 55,477,928 (GRCm39)	I220N	probably damaging	Het
Dlg5	T	C	14: 24,198,328 (GRCm39)	D1535G	possibly damaging	Het
Dpy19l1	A	G	9: 24,414,372 (GRCm39)	S19P	probably benign	Het
Eif3l	A	C	15: 78,963,220 (GRCm39)	E134A	possibly damaging	Het
Epb41	C	A	4: 131,664,772 (GRCm39)	V90L		Het
Flad1	A	T	3: 89,316,109 (GRCm39)	V151D	probably damaging	Het
Gja10	A	T	4: 32,601,568 (GRCm39)	I272N	probably benign	Het
Glmp	T	A	3: 88,233,580 (GRCm39)	D178E	probably benign	Het
Gm16494	G	A	17: 47,327,750 (GRCm39)	P45S	probably damaging	Het
Gm4553	T	C	7: 141,719,458 (GRCm39)	D6G	unknown	Het
Grid2	G	A	6: 63,233,929 (GRCm39)		probably null	Het
Icmt	A	G	4: 152,387,482 (GRCm39)	M226V	probably benign	Het
Igkv5-39	T	C	6: 69,877,607 (GRCm39)	S50G	probably benign	Het
Ints5	T	C	19: 8,872,484 (GRCm39)	S148P	probably damaging	Het
Itga2b	A	C	11: 102,351,985 (GRCm39)	V504G	possibly damaging	Het
Krt20	T	A	11: 99,323,063 (GRCm39)	Y253F	probably damaging	Het
Man2a2	T	A	7: 80,018,656 (GRCm39)	I68L	probably damaging	Het
Mpi	G	A	9: 57,455,954 (GRCm39)	T176I	probably benign	Het
Msh6	C	T	17: 88,294,340 (GRCm39)	R1032C	probably damaging	Het
Myot	C	T	18: 44,475,416 (GRCm39)	T179I	probably damaging	Het
Neb	A	G	2: 52,116,601 (GRCm39)	S946P		Het
Notch3	G	A	17: 32,341,713 (GRCm39)	A2013V	probably damaging	Het
Nr1d1	T	C	11: 98,662,133 (GRCm39)	Y167C	probably damaging	Het
Or52h7	T	A	7: 104,213,593 (GRCm39)	F55Y	probably benign	Het
Or52n2c	T	C	7: 104,574,828 (GRCm39)	I48V	probably benign	Het
Or7g32	A	G	9: 19,408,377 (GRCm39)	E111G	probably damaging	Het
Or8k40	A	C	2: 86,584,893 (GRCm39)	L63R	probably damaging	Het
P4ha3	G	A	7: 99,966,309 (GRCm39)	V485M	probably damaging	Het
Pbk	T	A	14: 66,054,185 (GRCm39)	C243*	probably null	Het
Pde4b	T	A	4: 102,459,983 (GRCm39)	L388H	possibly damaging	Het
Pecam1	T	C	11: 106,579,745 (GRCm39)	D439G	probably benign	Het
Pknox2	A	T	9: 36,822,459 (GRCm39)	M230K	probably benign	Het
Plekhh2	A	G	17: 84,908,113 (GRCm39)	I1185V	probably damaging	Het
Polr3g	A	G	13: 81,842,682 (GRCm39)	V111A	unknown	Het
Prkcg	G	C	7: 3,377,580 (GRCm39)	E562D	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf123	A	T	9: 107,940,089 (GRCm39)	V768D	probably damaging	Het
Rps16	T	A	7: 28,052,008 (GRCm39)	S129T	probably benign	Het
Scg2	A	T	1: 79,413,222 (GRCm39)	N460K	probably benign	Het
Sct	T	C	7: 140,858,807 (GRCm39)	S42G	probably damaging	Het
Spef2	A	T	15: 9,727,629 (GRCm39)	N151K	probably benign	Het
Syce1l	C	A	8: 114,380,721 (GRCm39)	D144E	possibly damaging	Het
Syt17	T	C	7: 118,036,069 (GRCm39)	Y99C	probably damaging	Het
Tgfbr3	T	C	5: 107,287,640 (GRCm39)	N520D	probably damaging	Het
Thsd7b	A	G	1: 129,523,193 (GRCm39)	S76G	probably benign	Het
Tmem63a	G	T	1: 180,788,685 (GRCm39)	V341F	probably benign	Het
Trim5	A	G	7: 103,914,993 (GRCm39)	S359P	probably damaging	Het
Tst	A	T	15: 78,284,020 (GRCm39)	V269E	probably damaging	Het
Ubr3	A	T	2: 69,784,706 (GRCm39)	I808F	probably null	Het
Ugt3a1	T	A	15: 9,362,024 (GRCm39)	Y267N	probably benign	Het
Wwc1	A	T	11: 35,761,384 (GRCm39)		probably benign	Het
Zfp36l2	G	T	17: 84,494,552 (GRCm39)	N28K	probably damaging	Het
Zfp57	A	G	17: 37,321,136 (GRCm39)	D330G	probably benign	Het
Zgrf1	C	A	3: 127,377,644 (GRCm39)	S963Y	probably damaging	Het
Zranb2	A	G	3: 157,247,412 (GRCm39)	K197E	unknown	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
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'- ACAGACTGACATTGCCATGAC -3'
(R):5'- ATGTGTCAGCTCTATGATCCAGG -3'

Sequencing Primer
(F):5'- GCCATGACTAAAATAAAACCAGATGG -3'
(R):5'- GGATACTCCGGTATTACTTCGG -3'

Posted On

2020-07-28