Mutagenetix > Incidental Mutation

Incidental Mutation 'R8905:Ercc3'

680063

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

068762-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8905 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32373357-32403206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 32398771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 683 (D683E)

Ref Sequence

ENSEMBL: ENSMUSP00000025241 (fasta)

Gene Model

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

AlphaFold

P49135

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025241
AA Change: D683E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382
AA Change: D683E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	C	4: 137,182,553 (GRCm39)	V236A	probably benign	Het
Abca15	A	T	7: 119,960,771 (GRCm39)	R744S	probably benign	Het
Adgra1	T	C	7: 139,455,763 (GRCm39)	S464P	probably damaging	Het
Arhgap45	T	C	10: 79,855,570 (GRCm39)	V3A	probably benign	Het
AW554918	T	A	18: 25,473,206 (GRCm39)	S134T	probably damaging	Het
Bmper	A	G	9: 23,318,082 (GRCm39)	E567G	probably benign	Het
C2cd3	T	C	7: 100,074,132 (GRCm39)		probably null	Het
Cars1	A	G	7: 143,140,196 (GRCm39)	Y170H	probably damaging	Het
Celsr1	A	T	15: 85,788,269 (GRCm39)		probably benign	Het
Celsr3	C	T	9: 108,718,501 (GRCm39)	H2351Y	probably damaging	Het
Cfap210	A	G	2: 69,612,104 (GRCm39)	S175P	probably benign	Het
Clxn	A	G	16: 14,738,275 (GRCm39)	I147V	possibly damaging	Het
Cyp2d11	T	C	15: 82,275,102 (GRCm39)	I282V	probably benign	Het
Dhfr	A	G	13: 92,494,467 (GRCm39)	T57A	probably damaging	Het
Dhrs7l	T	A	12: 72,666,431 (GRCm39)	D80V	probably damaging	Het
Dnah7b	A	C	1: 46,292,534 (GRCm39)	Q2973P	probably damaging	Het
Dnajc5b	T	C	3: 19,633,184 (GRCm39)	C136R	probably benign	Het
Faxc	A	G	4: 21,982,398 (GRCm39)	Y279C	probably damaging	Het
Fbxw7	T	C	3: 84,872,634 (GRCm39)	M191T	possibly damaging	Het
Fcgbp	T	A	7: 27,785,934 (GRCm39)	V457E	probably damaging	Het
Fip1l1	A	T	5: 74,756,624 (GRCm39)	T539S	probably damaging	Het
Gabra1	T	C	11: 42,038,052 (GRCm39)	T189A	possibly damaging	Het
Glg1	T	C	8: 111,884,668 (GRCm39)	D1118G	probably damaging	Het
Gli3	A	G	13: 15,901,116 (GRCm39)	D1501G	probably benign	Het
Hacd1	A	G	2: 14,049,761 (GRCm39)	I91T	possibly damaging	Het
Ift22	T	C	5: 136,941,745 (GRCm39)	V159A	probably benign	Het
Igkv1-110	T	A	6: 68,248,070 (GRCm39)	Y60N	probably damaging	Het
Inpp5d	A	G	1: 87,637,348 (GRCm39)	K502E	probably damaging	Het
Kcnt2	A	T	1: 140,435,467 (GRCm39)	Q478L	possibly damaging	Het
Mettl13	A	G	1: 162,364,847 (GRCm39)	F511L	probably damaging	Het
Mis18bp1	T	C	12: 65,180,401 (GRCm39)		probably null	Het
Mrps30	A	T	13: 118,523,479 (GRCm39)	S98T	probably benign	Het
Muc2	C	T	7: 141,279,643 (GRCm39)	A209V	probably benign	Het
Nfs1	A	T	2: 155,970,503 (GRCm39)	I270N	probably damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nsmaf	A	G	4: 6,424,951 (GRCm39)	S266P	probably benign	Het
Obscn	A	G	11: 58,960,784 (GRCm39)	S3176P	probably damaging	Het
Or4c123	A	T	2: 89,126,801 (GRCm39)	L271Q	possibly damaging	Het
Or7g12	A	G	9: 18,899,494 (GRCm39)	D70G	possibly damaging	Het
P2ry12	T	A	3: 59,124,997 (GRCm39)	Y226F	probably damaging	Het
Pabpc2	C	A	18: 39,907,704 (GRCm39)	T323K	probably benign	Het
Pank2	A	G	2: 131,124,646 (GRCm39)	D71G	possibly damaging	Het
Patj	A	T	4: 98,385,412 (GRCm39)	H393L	probably damaging	Het
Pde8b	A	G	13: 95,182,993 (GRCm39)	V255A	probably damaging	Het
Plekhs1	T	C	19: 56,471,028 (GRCm39)	W374R	probably damaging	Het
Ppm1g	T	C	5: 31,361,437 (GRCm39)	D313G	probably damaging	Het
Rnf114	A	G	2: 167,353,134 (GRCm39)	N135S	probably benign	Het
Rnf43	T	G	11: 87,621,951 (GRCm39)	Y351D	probably damaging	Het
Robo1	A	T	16: 72,539,173 (GRCm39)	D90V	probably damaging	Het
Sbds	A	G	5: 130,277,125 (GRCm39)	V172A	possibly damaging	Het
Scamp5	T	A	9: 57,352,669 (GRCm39)	I167F	probably benign	Het
Sec14l5	A	G	16: 4,994,364 (GRCm39)	E386G	probably damaging	Het
Sfxn1	T	A	13: 54,246,433 (GRCm39)	V159E	probably damaging	Het
Sgsm1	C	T	5: 113,421,495 (GRCm39)	G531R	probably benign	Het
Slc22a26	T	A	19: 7,760,331 (GRCm39)	I471F	probably damaging	Het
Slc41a3	T	A	6: 90,589,123 (GRCm39)	M78K	probably benign	Het
Slc8a1	A	T	17: 81,749,084 (GRCm39)	Y653N	probably benign	Het
Slco6c1	A	T	1: 97,053,391 (GRCm39)	M170K	possibly damaging	Het
Smarca5	A	T	8: 81,440,577 (GRCm39)	I629K	probably benign	Het
Smg7	T	A	1: 152,715,817 (GRCm39)	D1099V	probably damaging	Het
Spata31e2	A	G	1: 26,721,895 (GRCm39)	V1095A	probably damaging	Het
Srbd1	T	C	17: 86,308,890 (GRCm39)	I763V	probably benign	Het
Stk25	A	G	1: 93,556,929 (GRCm39)	S30P	probably damaging	Het
Sv2b	C	T	7: 74,767,459 (GRCm39)	A646T	probably benign	Het
Tardbp	T	C	4: 148,705,093 (GRCm39)	M167V	probably benign	Het
Tmem132a	T	C	19: 10,842,647 (GRCm39)	N276S	probably damaging	Het
Ttpa	T	A	4: 20,028,435 (GRCm39)	S162T	probably benign	Het
Usp13	T	C	3: 32,935,572 (GRCm39)	Y333H	probably damaging	Het
Vmn2r3	T	A	3: 64,166,695 (GRCm39)	Y812F	probably damaging	Het
Yeats2	A	G	16: 20,009,144 (GRCm39)	T463A	probably benign	Het
Zbtb26	T	A	2: 37,326,927 (GRCm39)	K36N	probably benign	Het
Zfc3h1	A	T	10: 115,259,383 (GRCm39)	T1652S	probably benign	Het
Zfp472	G	A	17: 33,197,455 (GRCm39)	C510Y	possibly damaging	Het
Zfp518a	C	A	19: 40,902,780 (GRCm39)	T903K	probably damaging	Het
Zfp668	T	C	7: 127,465,598 (GRCm39)	T529A	probably benign	Het
Zfp930	A	G	8: 69,681,351 (GRCm39)	T349A	possibly damaging	Het
Zmiz2	T	G	11: 6,346,840 (GRCm39)	Y182D	probably 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
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
Z1177:Ercc3	UTSW	18	32,387,214 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACAGTGAATCTGATGGGC -3'
(R):5'- AGTTTCCCTTTTAGCACCTCAGAAC -3'

Sequencing Primer
(F):5'- AAGAGCTTGTCCTCTGCAG -3'
(R):5'- TTTTAGCACCTCAGAACTCCCAGG -3'

Posted On

2021-08-31