Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02670:Xpa'

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

Chromosomal Location

46155347-46196311 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46185682 bp

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]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
Z1177:Xpa	UTSW	4	46183036	missense	probably benign	0.09

Posted On

2015-04-16