Incidental Mutation 'IGL02670:Xpa'
ID 302893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xpa
Ensembl Gene ENSMUSG00000028329
Gene Name xeroderma pigmentosum, complementation group A
Synonyms Xpac
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02670
Quality Score
Status
Chromosome 4
Chromosomal Location 46155347-46196311 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46185682 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 99 (F99L)
Ref Sequence ENSEMBL: ENSMUSP00000121850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030013] [ENSMUST00000058232] [ENSMUST00000132358] [ENSMUST00000142380]
AlphaFold Q64267
Predicted Effect probably benign
Transcript: ENSMUST00000030013
AA Change: F99L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030013
Gene: ENSMUSG00000028329
AA Change: F99L

DomainStartEndE-ValueType
low complexity region 32 55 N/A INTRINSIC
Pfam:XPA_N 99 132 1.5e-20 PFAM
Pfam:XPA_C 133 185 3.7e-28 PFAM
low complexity region 212 223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000058232
AA Change: F99L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000050453
Gene: ENSMUSG00000028329
AA Change: F99L

DomainStartEndE-ValueType
low complexity region 32 55 N/A INTRINSIC
Pfam:XPA_N 101 132 5.2e-18 PFAM
Pfam:XPA_C 134 185 3e-30 PFAM
low complexity region 212 223 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130051
Predicted Effect probably benign
Transcript: ENSMUST00000132358
SMART Domains Protein: ENSMUSP00000138512
Gene: ENSMUSG00000028329

DomainStartEndE-ValueType
Pfam:XPA_N 1 23 1.1e-13 PFAM
Pfam:XPA_C 24 76 7.9e-29 PFAM
low complexity region 103 114 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141318
Predicted Effect probably benign
Transcript: ENSMUST00000142380
AA Change: F99L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000121850
Gene: ENSMUSG00000028329
AA Change: F99L

DomainStartEndE-ValueType
low complexity region 32 55 N/A INTRINSIC
Pfam:XPA_N 99 132 1.5e-20 PFAM
Pfam:XPA_C 133 185 3.7e-28 PFAM
low complexity region 212 225 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mutants are highly susceptible to tumors induced by UV (skin and ocular tumors), 7,12-dimethylbenz[a]anthracene (skin tumors), benzo[a]pyrene (pulmonary tumors), 4-nitroquinoline-1-oxide (tongue tumors) and aflatoxin B(1) (liver tumors). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C T 3: 36,967,305 Q2193* probably null Het
Asb1 T C 1: 91,546,918 probably benign Het
Cnot6 G A 11: 49,685,114 Q178* probably null Het
Col5a1 C T 2: 27,974,715 A737V unknown Het
Cyp27b1 T C 10: 127,050,358 S303P probably benign Het
Dnah5 T C 15: 28,409,296 L3620P probably damaging Het
Dock7 A T 4: 98,966,286 probably null Het
Fam161b T C 12: 84,357,594 D104G probably benign Het
Fam8a1 A G 13: 46,673,604 M284V possibly damaging Het
Fkbp3 T A 12: 65,069,103 K65* probably null Het
Gatb A G 3: 85,613,551 probably null Het
Gm572 A T 4: 148,651,228 H38L probably benign Het
Gm6576 A C 15: 27,025,512 noncoding transcript Het
L2hgdh G A 12: 69,692,480 R406W possibly damaging Het
Lmo7 A T 14: 101,880,980 T214S probably damaging Het
Map3k12 T C 15: 102,503,546 H361R probably benign Het
Mios T C 6: 8,235,378 probably benign Het
Mta1 T C 12: 113,130,121 L315P probably damaging Het
Pask A C 1: 93,310,818 V1315G probably damaging Het
Pias4 A T 10: 81,164,070 C50S probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sgk1 T A 10: 21,928,546 C92S probably benign Het
Slc2a13 C T 15: 91,497,509 G259E probably damaging Het
Slc5a4b A G 10: 76,075,100 C301R probably damaging Het
Sstr4 G T 2: 148,396,533 G355* probably null Het
Tnrc6a T A 7: 123,171,312 L775Q possibly damaging Het
Vmn1r218 A G 13: 23,137,004 I94V probably benign Het
Other mutations in Xpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Xpa APN 4 46185606 missense probably damaging 1.00
R1863:Xpa UTSW 4 46155730 intron probably benign
R2149:Xpa UTSW 4 46183189 missense probably damaging 0.99
R4534:Xpa UTSW 4 46185624 missense probably benign 0.00
R5308:Xpa UTSW 4 46185659 missense probably benign 0.00
R6647:Xpa UTSW 4 46183089 missense probably benign 0.00
R7157:Xpa UTSW 4 46185612 missense probably damaging 1.00
R7185:Xpa UTSW 4 46183078 missense probably benign
R8191:Xpa UTSW 4 46183225 missense possibly damaging 0.56
R8219:Xpa UTSW 4 46183150 missense probably benign 0.02
Z1177:Xpa UTSW 4 46183036 missense probably benign 0.09
Posted On 2015-04-16