Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Ercc3'

44796

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

038737-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32240300-32270151 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32245902 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 270 (S270P)

Ref Sequence

ENSEMBL: ENSMUSP00000025241 (fasta)

Gene Model

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

AlphaFold

P49135

Predicted Effect

probably damaging
Transcript: ENSMUST00000025241
AA Change: S270P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382
AA Change: S270P

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

Meta Mutation Damage Score

0.5595

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	Het

Other mutations in Ercc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Ercc3	APN	18	32264545	splice site	probably benign
IGL01108:Ercc3	APN	18	32264585	missense	probably damaging	0.99
IGL01131:Ercc3	APN	18	32269889	makesense	probably null
IGL01541:Ercc3	APN	18	32248319	missense	possibly damaging	0.87
IGL01959:Ercc3	APN	18	32257358	missense	probably damaging	1.00
IGL02862:Ercc3	APN	18	32243202	critical splice donor site	probably null
IGL03107:Ercc3	APN	18	32248307	missense	possibly damaging	0.95
IGL03334:Ercc3	APN	18	32240837	critical splice donor site	probably null
PIT4651001:Ercc3	UTSW	18	32240312	unclassified	probably benign
R0561:Ercc3	UTSW	18	32245539	missense	possibly damaging	0.85
R1159:Ercc3	UTSW	18	32264558	missense	possibly damaging	0.86
R1496:Ercc3	UTSW	18	32261297	splice site	probably benign
R1733:Ercc3	UTSW	18	32267165	missense	possibly damaging	0.60
R1943:Ercc3	UTSW	18	32246610	missense	probably damaging	1.00
R2013:Ercc3	UTSW	18	32248429	missense	probably benign
R2015:Ercc3	UTSW	18	32248429	missense	probably benign
R2303:Ercc3	UTSW	18	32245547	missense	probably benign	0.08
R4393:Ercc3	UTSW	18	32265621	missense	probably benign	0.00
R4600:Ercc3	UTSW	18	32245571	missense	probably benign	0.00
R4601:Ercc3	UTSW	18	32245571	missense	probably benign	0.00
R4602:Ercc3	UTSW	18	32245571	missense	probably benign	0.00
R4603:Ercc3	UTSW	18	32245571	missense	probably benign	0.00
R4796:Ercc3	UTSW	18	32248310	missense	probably damaging	1.00
R4957:Ercc3	UTSW	18	32243117	missense	probably damaging	1.00
R5253:Ercc3	UTSW	18	32269864	missense	probably damaging	0.97
R5265:Ercc3	UTSW	18	32254243	missense	probably damaging	0.99
R5342:Ercc3	UTSW	18	32245595	missense	probably benign	0.01
R5455:Ercc3	UTSW	18	32267209	missense	possibly damaging	0.89
R5639:Ercc3	UTSW	18	32265714	missense	probably damaging	0.99
R5702:Ercc3	UTSW	18	32254153	missense	probably damaging	0.99
R6026:Ercc3	UTSW	18	32245921	critical splice donor site	probably null
R6053:Ercc3	UTSW	18	32246754	missense	probably damaging	1.00
R6650:Ercc3	UTSW	18	32261336	missense	probably damaging	1.00
R7150:Ercc3	UTSW	18	32257272	missense	probably damaging	1.00
R7783:Ercc3	UTSW	18	32248243	missense	probably damaging	1.00
R8331:Ercc3	UTSW	18	32240818	missense	probably damaging	0.97
R8905:Ercc3	UTSW	18	32265718	missense	possibly damaging	0.94
Z1177:Ercc3	UTSW	18	32254161	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACAGATTTCTAAGACGGCGGC -3'
(R):5'- GGTTTGCACAGAAAGGCAGCAC -3'

Sequencing Primer
(F):5'- TAAGACGGCGGCGGAAG -3'
(R):5'- ccctcctcccctcccac -3'

Posted On

2013-06-11