Mutagenetix > Incidental Mutation

Incidental Mutation 'R6647:Xpa'

526115

Institutional Source

Beutler Lab

Gene Symbol

Xpa

Ensembl Gene

ENSMUSG00000028329

Gene Name

xeroderma pigmentosum, complementation group A

Synonyms

Xpac

MMRRC Submission

044768-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6647 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46175222-46196345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46183089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 233 (R233S)

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

SMART Domains

Protein: ENSMUSP00000030013
Gene: ENSMUSG00000028329

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

SMART Domains

Protein: ENSMUSP00000050453
Gene: ENSMUSG00000028329

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: R233S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121850
Gene: ENSMUSG00000028329
AA Change: R233S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (53/54)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,544,060 (GRCm39)	T1416A	probably damaging	Het
Atp7b	A	G	8: 22,518,494 (GRCm39)	S103P	probably damaging	Het
Ces1h	A	C	8: 94,078,654 (GRCm39)	*563G	probably null	Het
Cfap157	G	T	2: 32,669,086 (GRCm39)	A339E	probably benign	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Cyp2b13	A	G	7: 25,785,324 (GRCm39)	H231R	possibly damaging	Het
Ddx31	A	T	2: 28,765,750 (GRCm39)	T483S	probably damaging	Het
Defa25	A	T	8: 21,575,201 (GRCm39)	D60V	possibly damaging	Het
Dnah5	G	A	15: 28,403,633 (GRCm39)	A3453T	probably benign	Het
Dnah6	A	T	6: 73,115,743 (GRCm39)	F1500I	probably damaging	Het
Eprs1	C	T	1: 185,146,621 (GRCm39)	A1217V	probably damaging	Het
Ermp1	T	C	19: 29,604,335 (GRCm39)	Y481C	probably benign	Het
Fmn2	T	A	1: 174,420,670 (GRCm39)	N635K	unknown	Het
Fras1	A	G	5: 96,883,061 (GRCm39)	D2531G	probably damaging	Het
Frat1	C	T	19: 41,819,264 (GRCm39)	Q220*	probably null	Het
Gcc2	T	A	10: 58,123,103 (GRCm39)		probably null	Het
Gm3285	T	C	10: 77,698,447 (GRCm39)		probably benign	Het
Gm9857	T	C	3: 108,847,379 (GRCm39)		probably benign	Het
Grin2b	C	A	6: 135,710,108 (GRCm39)	W1146L	probably damaging	Het
Hells	T	A	19: 38,919,948 (GRCm39)	L33I	probably benign	Het
Ift81	T	A	5: 122,748,229 (GRCm39)	R54*	probably null	Het
Ints12	G	A	3: 132,802,639 (GRCm39)	R41Q	possibly damaging	Het
Katnal2	C	T	18: 77,067,733 (GRCm39)	E403K	probably benign	Het
Kcnk1	A	G	8: 126,722,199 (GRCm39)	M1V	probably null	Het
Kdm5a	A	G	6: 120,389,422 (GRCm39)	T950A	probably benign	Het
Kdr	G	A	5: 76,113,549 (GRCm39)	A773V	probably damaging	Het
Lats1	G	C	10: 7,573,271 (GRCm39)	M118I	possibly damaging	Het
Mug1	A	G	6: 121,817,200 (GRCm39)	I90V	probably benign	Het
Nid2	A	G	14: 19,852,484 (GRCm39)	D1064G	probably benign	Het
Nkx2-4	A	T	2: 146,926,187 (GRCm39)	I225N	possibly damaging	Het
Nlrp4e	A	G	7: 23,020,740 (GRCm39)	D409G	probably benign	Het
Ogfod2	G	C	5: 124,252,866 (GRCm39)	R292P	possibly damaging	Het
Oprk1	C	T	1: 5,672,507 (GRCm39)	P215S	probably damaging	Het
Or5d36	A	T	2: 87,901,053 (GRCm39)	F224L	probably benign	Het
Or6c35	T	A	10: 129,169,033 (GRCm39)	C94*	probably null	Het
Or7g27	T	A	9: 19,249,925 (GRCm39)	H56Q	possibly damaging	Het
Or8g21	T	C	9: 38,906,210 (GRCm39)	I174V	possibly damaging	Het
Pcdhb16	A	G	18: 37,612,225 (GRCm39)	K395R	possibly damaging	Het
Ptprg	C	A	14: 11,962,714 (GRCm38)	P171T	probably damaging	Het
Pycard	T	C	7: 127,592,741 (GRCm39)	T29A	probably benign	Het
Rap1gap2	G	A	11: 74,298,754 (GRCm39)	A452V	probably benign	Het
Rasgrf1	C	G	9: 89,892,516 (GRCm39)	T1072S	probably benign	Het
Rc3h2	G	A	2: 37,272,956 (GRCm39)	R707*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Senp7	T	C	16: 55,993,618 (GRCm39)	I767T	probably damaging	Het
Setd7	A	G	3: 51,450,183 (GRCm39)	V81A	probably benign	Het
Shisal2a	A	G	4: 108,225,224 (GRCm39)	S113P	probably benign	Het
Shkbp1	A	G	7: 27,041,800 (GRCm39)	S685P	probably benign	Het
Snrnp200	A	G	2: 127,068,372 (GRCm39)	E904G	probably damaging	Het
Spata22	T	A	11: 73,245,526 (GRCm39)		probably null	Het
Spata31e2	T	A	1: 26,721,659 (GRCm39)	N1174Y	probably damaging	Het
Tas2r138	G	T	6: 40,589,733 (GRCm39)	T171K	possibly damaging	Het
Tor1aip1	T	C	1: 155,893,999 (GRCm39)	D77G	possibly damaging	Het
Vav3	A	T	3: 109,434,732 (GRCm39)	H421L	probably benign	Het
Vmn1r43	A	G	6: 89,846,841 (GRCm39)	L215P	probably damaging	Het
Vmn2r100	T	A	17: 19,742,785 (GRCm39)	S386R	probably benign	Het

Other mutations in Xpa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Xpa	APN	4	46,185,606 (GRCm39)	missense	probably damaging	1.00
IGL02670:Xpa	APN	4	46,185,682 (GRCm39)	missense	probably benign	0.03
R1863:Xpa	UTSW	4	46,155,730 (GRCm39)	intron	probably benign
R2149:Xpa	UTSW	4	46,183,189 (GRCm39)	missense	probably damaging	0.99
R4534:Xpa	UTSW	4	46,185,624 (GRCm39)	missense	probably benign	0.00
R5308:Xpa	UTSW	4	46,185,659 (GRCm39)	missense	probably benign	0.00
R7157:Xpa	UTSW	4	46,185,612 (GRCm39)	missense	probably damaging	1.00
R7185:Xpa	UTSW	4	46,183,078 (GRCm39)	missense	probably benign
R8191:Xpa	UTSW	4	46,183,225 (GRCm39)	missense	possibly damaging	0.56
R8219:Xpa	UTSW	4	46,183,150 (GRCm39)	missense	probably benign	0.02
Z1177:Xpa	UTSW	4	46,183,036 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GAGTGATGCCTAATCCCACTG -3'
(R):5'- GCTCGACAGTTAGGACTTCC -3'

Sequencing Primer
(F):5'- GATGCCTAATCCCACTGTCCCTAC -3'
(R):5'- TCTGAACCCCAGCTGACTG -3'

Posted On

2018-06-22