Mutagenetix > Incidental Mutation

Incidental Mutation 'R2015:Ercc3'

222929

Institutional Source

Beutler Lab

Gene Symbol

Ercc3

Ensembl Gene

ENSMUSG00000024382

Gene Name

excision repair cross-complementing rodent repair deficiency, complementation group 3

Synonyms

XPB

MMRRC Submission

040024-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2015 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32373357-32403206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32381482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 433 (T433A)

Ref Sequence

ENSEMBL: ENSMUSP00000025241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025241]

AlphaFold

P49135

Predicted Effect

probably benign
Transcript: ENSMUST00000025241
AA Change: T433A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382
AA Change: T433A

Domain	Start	End	E-Value	Type
low complexity region	3	28	N/A	INTRINSIC
Pfam:Helicase_C_3	76	203	1.2e-46	PFAM
DEXDc	313	493	2.52e-18	SMART
HELICc	570	648	4.32e-8	SMART
low complexity region	707	716	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142213

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a frame shift mutation in exon 15 exhibit embryonic lethality prior to E8.5. Mice homozygous for a frame shift mutation following by a stop codon insertion in exon 15 exhibit increased sensitivity to ultraviolet- and gamma-irradiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,022,672 (GRCm39)	M1022K	probably benign	Het
Abhd4	T	A	14: 54,500,289 (GRCm39)	H74Q	probably damaging	Het
Actg1	A	G	11: 120,237,636 (GRCm39)	S49P	possibly damaging	Het
Adcy8	C	T	15: 64,639,727 (GRCm39)	G678S	probably benign	Het
Aire	T	C	10: 77,878,792 (GRCm39)	D85G	probably damaging	Het
Akr1c18	T	A	13: 4,195,308 (GRCm39)	D50V	probably damaging	Het
Ankrd13a	C	A	5: 114,930,170 (GRCm39)	A185E	probably damaging	Het
Apc	A	G	18: 34,448,644 (GRCm39)	I1813V	probably damaging	Het
Armc8	A	T	9: 99,365,158 (GRCm39)	C661*	probably null	Het
Bbs10	C	T	10: 111,136,716 (GRCm39)	Q610*	probably null	Het
Blm	T	C	7: 80,152,147 (GRCm39)	E600G	probably damaging	Het
Bpifb9a	T	C	2: 154,110,120 (GRCm39)		probably null	Het
Cdk14	T	C	5: 5,430,082 (GRCm39)	K15R	probably benign	Het
Cdr1	A	G	X: 60,228,420 (GRCm39)	F249L	probably benign	Het
Cep250	A	C	2: 155,823,373 (GRCm39)	H1009P	probably damaging	Het
Cfap97d1	C	A	11: 101,878,044 (GRCm39)	H35Q	probably damaging	Het
Clasp2	A	G	9: 113,740,568 (GRCm39)	T495A	possibly damaging	Het
Col19a1	C	G	1: 24,598,834 (GRCm39)	G53A	unknown	Het
Cpne1	G	A	2: 155,920,308 (GRCm39)	R166C	probably damaging	Het
Dtx3l	G	A	16: 35,756,797 (GRCm39)	H129Y	probably benign	Het
Gm9936	T	A	5: 114,995,482 (GRCm39)		probably benign	Het
Grina	T	C	15: 76,132,734 (GRCm39)	V167A	probably damaging	Het
H2ac25	T	A	11: 58,845,754 (GRCm39)	L64Q	probably damaging	Het
Hcfc2	A	G	10: 82,574,814 (GRCm39)	N618D	probably benign	Het
Herpud1	T	C	8: 95,118,834 (GRCm39)	V196A	probably benign	Het
Hlcs	A	G	16: 94,063,599 (GRCm39)	V487A	probably benign	Het
Hspa9	A	T	18: 35,079,701 (GRCm39)	Y243N	probably damaging	Het
Igll1	A	G	16: 16,681,639 (GRCm39)	S39P	probably benign	Het
Kdm5a	T	C	6: 120,408,951 (GRCm39)	S1545P	probably benign	Het
Klra8	C	A	6: 130,092,536 (GRCm39)	C255F	probably damaging	Het
Krtap4-6	A	T	11: 99,556,398 (GRCm39)	C110S	unknown	Het
Lef1	T	A	3: 130,905,236 (GRCm39)	I39N	probably damaging	Het
Lnpep	G	A	17: 17,799,325 (GRCm39)	T110I	probably damaging	Het
Lrp1	T	A	10: 127,376,563 (GRCm39)	T4282S	probably benign	Het
Lrp6	A	G	6: 134,457,337 (GRCm39)		probably null	Het
Ly6g5b	A	C	17: 35,333,654 (GRCm39)	S53A	possibly damaging	Het
M6pr	T	G	6: 122,290,332 (GRCm39)	N98K	probably damaging	Het
Mal2	T	C	15: 54,464,136 (GRCm39)	*176Q	probably null	Het
Mansc1	T	C	6: 134,587,274 (GRCm39)	D301G	possibly damaging	Het
Marchf1	C	A	8: 66,574,473 (GRCm39)	N11K	probably damaging	Het
Mast3	T	A	8: 71,240,007 (GRCm39)	I338F	probably benign	Het
Mcm3	A	G	1: 20,873,804 (GRCm39)	L772P	probably damaging	Het
Mib2	C	T	4: 155,742,337 (GRCm39)	G176D	probably damaging	Het
Mier2	A	T	10: 79,377,036 (GRCm39)		probably null	Het
Mogs	C	T	6: 83,094,631 (GRCm39)	R483*	probably null	Het
Msl2	G	T	9: 100,957,304 (GRCm39)		probably benign	Het
Naa16	A	T	14: 79,582,499 (GRCm39)	M530K	probably damaging	Het
Nde1	A	T	16: 13,987,321 (GRCm39)		probably benign	Het
Ndufb10	T	C	17: 24,941,503 (GRCm39)		probably null	Het
Nhsl1	A	T	10: 18,387,340 (GRCm39)	R205W	probably damaging	Het
Npffr2	T	A	5: 89,730,751 (GRCm39)	I227N	probably damaging	Het
Nup210l	T	A	3: 90,092,739 (GRCm39)	L1231Q	probably damaging	Het
Or2f1	A	G	6: 42,721,784 (GRCm39)	E271G	probably damaging	Het
Or7a39	T	C	10: 78,715,222 (GRCm39)	I72T	possibly damaging	Het
Pclo	C	A	5: 14,571,515 (GRCm39)	P300Q	probably damaging	Het
Pik3c2a	T	A	7: 115,950,166 (GRCm39)		probably null	Het
Plekha5	T	A	6: 140,480,290 (GRCm39)		probably null	Het
Pls1	A	G	9: 95,643,418 (GRCm39)	V527A	possibly damaging	Het
Ppfia2	T	C	10: 106,310,538 (GRCm39)	M15T	probably benign	Het
Prkd2	T	A	7: 16,581,602 (GRCm39)	C152*	probably null	Het
Ptprq	T	G	10: 107,503,283 (GRCm39)	K792Q	probably damaging	Het
Pttg1ip2	T	A	5: 5,505,964 (GRCm39)	I106L	probably benign	Het
Rbbp8	T	C	18: 11,853,681 (GRCm39)	M296T	probably benign	Het
Rfc3	T	C	5: 151,571,003 (GRCm39)		probably null	Het
Rnf17	A	G	14: 56,724,426 (GRCm39)	N1090S	probably benign	Het
Sash1	A	T	10: 8,605,177 (GRCm39)	V1071D	probably benign	Het
Sdsl	G	A	5: 120,601,218 (GRCm39)	T18M	probably damaging	Het
Sepsecs	T	A	5: 52,804,966 (GRCm39)	Q365L	probably benign	Het
Sgta	A	T	10: 80,887,130 (GRCm39)	V45E	probably damaging	Het
Slc25a46	A	T	18: 31,742,778 (GRCm39)	H29Q	probably benign	Het
Slc2a8	A	C	2: 32,871,392 (GRCm39)	V136G	probably benign	Het
Smg7	A	T	1: 152,736,259 (GRCm39)	N166K	probably damaging	Het
Spata21	C	T	4: 140,834,640 (GRCm39)	Q505*	probably null	Het
Strn4	T	C	7: 16,566,953 (GRCm39)	S458P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,183,885 (GRCm39)	T248M	probably damaging	Het
Trabd	T	A	15: 88,968,929 (GRCm39)	M149K	possibly damaging	Het
Trpv3	A	T	11: 73,170,653 (GRCm39)	N178Y	probably damaging	Het
Try5	C	T	6: 41,291,585 (GRCm39)		probably null	Het
Tsg101	C	T	7: 46,558,652 (GRCm39)		probably null	Het
Ube3b	A	G	5: 114,549,210 (GRCm39)	E738G	probably damaging	Het
Unc13d	A	G	11: 115,959,581 (GRCm39)	S631P	probably damaging	Het
Unc5d	T	C	8: 29,249,007 (GRCm39)	T297A	probably damaging	Het
Usp18	A	T	6: 121,245,509 (GRCm39)	E1V	probably damaging	Het
Vapb	C	A	2: 173,613,391 (GRCm39)	P97T	probably benign	Het
Vmn1r33	T	A	6: 66,589,356 (GRCm39)	D66V	probably benign	Het
Vmn2r19	T	A	6: 123,292,954 (GRCm39)	M332K	probably benign	Het
Vmn2r71	T	A	7: 85,269,845 (GRCm39)	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,288 (GRCm39)	S1074P	probably damaging	Het
Vwde	C	A	6: 13,208,337 (GRCm39)	G182C	possibly damaging	Het
Wdfy3	A	C	5: 102,008,352 (GRCm39)	S2778A	probably null	Het
Zbtb2	T	A	10: 4,319,757 (GRCm39)	I90F	possibly damaging	Het
Zfp518b	C	A	5: 38,829,345 (GRCm39)	V887F	probably benign	Het
Zfp790	A	G	7: 29,528,286 (GRCm39)	T324A	probably benign	Het
Zup1	A	G	10: 33,805,820 (GRCm39)	V437A	possibly damaging	Het

Other mutations in Ercc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Ercc3	APN	18	32,397,598 (GRCm39)	splice site	probably benign
IGL01108:Ercc3	APN	18	32,397,638 (GRCm39)	missense	probably damaging	0.99
IGL01131:Ercc3	APN	18	32,402,942 (GRCm39)	makesense	probably null
IGL01541:Ercc3	APN	18	32,381,372 (GRCm39)	missense	possibly damaging	0.87
IGL01959:Ercc3	APN	18	32,390,411 (GRCm39)	missense	probably damaging	1.00
IGL02862:Ercc3	APN	18	32,376,255 (GRCm39)	critical splice donor site	probably null
IGL03107:Ercc3	APN	18	32,381,360 (GRCm39)	missense	possibly damaging	0.95
IGL03334:Ercc3	APN	18	32,373,890 (GRCm39)	critical splice donor site	probably null
PIT4651001:Ercc3	UTSW	18	32,373,365 (GRCm39)	unclassified	probably benign
R0545:Ercc3	UTSW	18	32,378,955 (GRCm39)	missense	probably damaging	1.00
R0561:Ercc3	UTSW	18	32,378,592 (GRCm39)	missense	possibly damaging	0.85
R1159:Ercc3	UTSW	18	32,397,611 (GRCm39)	missense	possibly damaging	0.86
R1496:Ercc3	UTSW	18	32,394,350 (GRCm39)	splice site	probably benign
R1733:Ercc3	UTSW	18	32,400,218 (GRCm39)	missense	possibly damaging	0.60
R1943:Ercc3	UTSW	18	32,379,663 (GRCm39)	missense	probably damaging	1.00
R2013:Ercc3	UTSW	18	32,381,482 (GRCm39)	missense	probably benign
R2303:Ercc3	UTSW	18	32,378,600 (GRCm39)	missense	probably benign	0.08
R4393:Ercc3	UTSW	18	32,398,674 (GRCm39)	missense	probably benign	0.00
R4600:Ercc3	UTSW	18	32,378,624 (GRCm39)	missense	probably benign	0.00
R4601:Ercc3	UTSW	18	32,378,624 (GRCm39)	missense	probably benign	0.00
R4602:Ercc3	UTSW	18	32,378,624 (GRCm39)	missense	probably benign	0.00
R4603:Ercc3	UTSW	18	32,378,624 (GRCm39)	missense	probably benign	0.00
R4796:Ercc3	UTSW	18	32,381,363 (GRCm39)	missense	probably damaging	1.00
R4957:Ercc3	UTSW	18	32,376,170 (GRCm39)	missense	probably damaging	1.00
R5253:Ercc3	UTSW	18	32,402,917 (GRCm39)	missense	probably damaging	0.97
R5265:Ercc3	UTSW	18	32,387,296 (GRCm39)	missense	probably damaging	0.99
R5342:Ercc3	UTSW	18	32,378,648 (GRCm39)	missense	probably benign	0.01
R5455:Ercc3	UTSW	18	32,400,262 (GRCm39)	missense	possibly damaging	0.89
R5639:Ercc3	UTSW	18	32,398,767 (GRCm39)	missense	probably damaging	0.99
R5702:Ercc3	UTSW	18	32,387,206 (GRCm39)	missense	probably damaging	0.99
R6026:Ercc3	UTSW	18	32,378,974 (GRCm39)	critical splice donor site	probably null
R6053:Ercc3	UTSW	18	32,379,807 (GRCm39)	missense	probably damaging	1.00
R6650:Ercc3	UTSW	18	32,394,389 (GRCm39)	missense	probably damaging	1.00
R7150:Ercc3	UTSW	18	32,390,325 (GRCm39)	missense	probably damaging	1.00
R7783:Ercc3	UTSW	18	32,381,296 (GRCm39)	missense	probably damaging	1.00
R8331:Ercc3	UTSW	18	32,373,871 (GRCm39)	missense	probably damaging	0.97
R8905:Ercc3	UTSW	18	32,398,771 (GRCm39)	missense	possibly damaging	0.94
Z1177:Ercc3	UTSW	18	32,387,214 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGCCCAGTTTAAGATGTGGTC -3'
(R):5'- TCATTCTCTAGAAGCCGGGC -3'

Sequencing Primer
(F):5'- TGGTCAACCATCGATGACAG -3'
(R):5'- AGACACAGCCGAGTTGC -3'

Posted On

2014-08-25