Mutagenetix > Incidental Mutation

Incidental Mutation 'R2013:Ercc3'

222465

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

040022-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2013 (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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.7%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	G	17: 48,347,723 (GRCm39)	T194P	possibly damaging	Het
4921504E06Rik	T	A	2: 19,545,124 (GRCm39)	M110L	probably benign	Het
Acad9	T	G	3: 36,127,737 (GRCm39)	I113R	probably damaging	Het
Adam34l	T	C	8: 44,079,442 (GRCm39)	S261G	possibly damaging	Het
Adamts6	A	T	13: 104,450,812 (GRCm39)	I332F	probably damaging	Het
Adcy8	C	T	15: 64,639,727 (GRCm39)	G678S	probably benign	Het
Afg3l2	C	T	18: 67,564,842 (GRCm39)	V211I	probably damaging	Het
Ahnak	T	C	19: 8,991,937 (GRCm39)	I4407T	probably damaging	Het
Alpl	G	T	4: 137,482,458 (GRCm39)	H79N	probably benign	Het
Apc	A	G	18: 34,448,644 (GRCm39)	I1813V	probably damaging	Het
Ascc3	T	C	10: 50,525,908 (GRCm39)	M540T	probably damaging	Het
Blm	T	C	7: 80,152,147 (GRCm39)	E600G	probably damaging	Het
Btbd8	T	C	5: 107,658,655 (GRCm39)	W1742R	probably damaging	Het
Cadps	T	A	14: 12,522,337 (GRCm38)	D609V	probably damaging	Het
Ccdc69	C	T	11: 54,941,983 (GRCm39)	M174I	probably benign	Het
Cdk13	A	T	13: 17,913,748 (GRCm39)	L877*	probably null	Het
Cdk14	T	C	5: 5,143,047 (GRCm39)	Y228C	probably damaging	Het
Dip2c	C	T	13: 9,617,882 (GRCm39)	Q426*	probably null	Het
Dsp	A	G	13: 38,375,434 (GRCm39)	N1073S	probably damaging	Het
Epyc	T	C	10: 97,511,655 (GRCm39)	I216T	probably damaging	Het
Erbin	A	G	13: 103,994,041 (GRCm39)	S300P	probably damaging	Het
Exoc4	A	G	6: 33,243,026 (GRCm39)	T80A	probably damaging	Het
Foxm1	T	A	6: 128,352,465 (GRCm39)		probably null	Het
Gaa	A	G	11: 119,175,409 (GRCm39)		probably null	Het
H2-Q4	A	G	17: 35,599,526 (GRCm39)	E203G	probably damaging	Het
Helt	T	C	8: 46,745,355 (GRCm39)	D214G	probably damaging	Het
Hlcs	A	G	16: 94,063,599 (GRCm39)	V487A	probably benign	Het
Hmmr	A	T	11: 40,619,259 (GRCm39)	S74T	possibly damaging	Het
Hspa9	A	T	18: 35,079,701 (GRCm39)	Y243N	probably damaging	Het
Htt	T	G	5: 35,010,215 (GRCm39)	L1556R	probably damaging	Het
Ift80	T	C	3: 68,898,117 (GRCm39)	K73E	possibly damaging	Het
Il6st	G	A	13: 112,635,423 (GRCm39)	A551T	probably null	Het
Kdm5a	T	C	6: 120,408,951 (GRCm39)	S1545P	probably benign	Het
Lef1	T	A	3: 130,905,236 (GRCm39)	I39N	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp6	A	G	6: 134,457,337 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,577,807 (GRCm39)	D59G	probably damaging	Het
Maged1	T	C	X: 93,580,523 (GRCm39)	Y636C	possibly damaging	Het
Mamdc4	T	A	2: 25,453,584 (GRCm39)	D1195V	probably damaging	Het
Mob3b	A	G	4: 35,083,922 (GRCm39)	V89A	probably benign	Het
Mogs	C	T	6: 83,094,631 (GRCm39)	R483*	probably null	Het
Mybphl	A	C	3: 108,282,718 (GRCm39)	T203P	probably benign	Het
Myo15a	A	G	11: 60,385,057 (GRCm39)	T1720A	probably damaging	Het
Myo16	T	A	8: 10,552,796 (GRCm39)	F945I	probably damaging	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nes	A	G	3: 87,883,985 (GRCm39)	Q748R	possibly damaging	Het
Nhsl1	A	T	10: 18,387,340 (GRCm39)	R205W	probably damaging	Het
Nlrc3	A	C	16: 3,782,974 (GRCm39)	L161R	probably damaging	Het
Npy2r	T	A	3: 82,448,487 (GRCm39)	D96V	probably damaging	Het
Or4d11	T	A	19: 12,013,518 (GRCm39)	E196V	probably damaging	Het
Or5w18	T	G	2: 87,632,847 (GRCm39)	V38G	probably damaging	Het
Pappa2	C	T	1: 158,662,498 (GRCm39)	C1159Y	probably damaging	Het
Phf21a	T	C	2: 92,058,828 (GRCm39)		probably null	Het
Pik3c2a	T	A	7: 115,950,166 (GRCm39)		probably null	Het
Psg22	A	T	7: 18,453,560 (GRCm39)	Y85F	possibly damaging	Het
Pttg1ip2	T	A	5: 5,505,964 (GRCm39)	I106L	probably benign	Het
Qtrt2	A	G	16: 43,689,455 (GRCm39)	I181T	probably damaging	Het
Sash1	A	T	10: 8,605,177 (GRCm39)	V1071D	probably benign	Het
Scn10a	A	T	9: 119,442,802 (GRCm39)	I1481N	probably damaging	Het
Slc15a1	G	A	14: 121,713,399 (GRCm39)	A376V	possibly damaging	Het
Slc25a46	A	T	18: 31,742,778 (GRCm39)	H29Q	probably benign	Het
Slit2	T	C	5: 48,459,832 (GRCm39)	C1354R	probably damaging	Het
Ssu2	C	T	6: 112,360,902 (GRCm39)	E52K	possibly damaging	Het
Taar7e	A	T	10: 23,913,732 (GRCm39)	H74L	possibly damaging	Het
Tcte1	A	T	17: 45,852,237 (GRCm39)	N490I	probably benign	Het
Tent4b	T	A	8: 88,972,223 (GRCm39)		probably null	Het
Tpst2	G	T	5: 112,455,880 (GRCm39)	G140C	probably damaging	Het
Trip11	A	T	12: 101,803,981 (GRCm39)	F1634I	probably damaging	Het
Trpm2	A	G	10: 77,761,600 (GRCm39)	F1017L	probably damaging	Het
Utp18	A	G	11: 93,766,948 (GRCm39)	V253A	possibly damaging	Het
Vmn2r102	A	G	17: 19,897,006 (GRCm39)	T118A	probably benign	Het
Vmn2r14	T	C	5: 109,369,109 (GRCm39)	T155A	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
Vmn2r79	T	G	7: 86,653,289 (GRCm39)	L518R	possibly damaging	Het
Vps13b	T	C	15: 35,607,288 (GRCm39)	S1074P	probably damaging	Het
Vps13d	A	G	4: 144,835,078 (GRCm39)	S2757P	probably damaging	Het
Wdr33	C	A	18: 32,022,029 (GRCm39)	Q860K	unknown	Het
Zfp423	T	A	8: 88,509,025 (GRCm39)	I440F	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
R2015: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'- AAGCCCAGTTTAAGATGTGGTC -3'
(R):5'- TCATTCTCTAGAAGCCGGGC -3'

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

Posted On

2014-08-25