Mutagenetix > Incidental Mutations

Incidental Mutation 'R4578:Ercc5'

499999

Institutional Source

Beutler Lab

Gene Symbol

Ercc5

Ensembl Gene

ENSMUSG00000026048

Gene Name

excision repair cross-complementing rodent repair deficiency, complementation group 5

Synonyms

Xpg

MMRRC Submission

041800-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4578 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

44147744-44181260 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44148148 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 29 (V29E)

Ref Sequence

ENSEMBL: ENSMUSP00000027214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027214] [ENSMUST00000035991] [ENSMUST00000114709]

Predicted Effect

probably benign
Transcript: ENSMUST00000027214
AA Change: V29E

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048
AA Change: V29E

Domain	Start	End	E-Value	Type
XPGN	1	98	3.49e-50	SMART
low complexity region	104	115	N/A	INTRINSIC
low complexity region	151	163	N/A	INTRINSIC
low complexity region	305	326	N/A	INTRINSIC
low complexity region	331	343	N/A	INTRINSIC
low complexity region	641	650	N/A	INTRINSIC
XPGI	776	845	1.02e-33	SMART
HhH2	847	880	2.94e-11	SMART
low complexity region	1130	1140	N/A	INTRINSIC
low complexity region	1155	1169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035991

SMART Domains

Protein: ENSMUSP00000041964
Gene: ENSMUSG00000041684

Domain	Start	End	E-Value	Type
low complexity region	117	129	N/A	INTRINSIC
low complexity region	162	174	N/A	INTRINSIC
Blast:XPGN	456	501	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114709

SMART Domains

Protein: ENSMUSP00000110357
Gene: ENSMUSG00000041684

Domain	Start	End	E-Value	Type
low complexity region	117	129	N/A	INTRINSIC
low complexity region	162	174	N/A	INTRINSIC
Blast:XPGN	456	501	3e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188376

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mice display postnatal mortality, severely retarded postnatal growth, impaired small intestine development, reduced organ size, and hypersensitivity to UV irradiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,736,671	Y440*	probably null	Het
Aldh3b3	A	T	19: 3,964,832	T110S	probably benign	Het
Atp2b2	T	C	6: 113,760,711	T901A	probably damaging	Het
Auts2	C	T	5: 132,258,934	G70E	probably benign	Het
Bfar	A	T	16: 13,687,443	I106F	probably benign	Het
Btbd10	T	G	7: 113,322,752	I301L	possibly damaging	Het
Card14	G	A	11: 119,326,741	R400H	probably benign	Het
Ccdc80	A	G	16: 45,095,486	R202G	probably damaging	Het
Cmtm7	A	C	9: 114,763,283	I82S	probably benign	Het
Cngb3	T	A	4: 19,425,613	W474R	probably damaging	Het
Coq9	T	C	8: 94,853,606	V285A	probably benign	Het
Cp	A	G	3: 19,973,888	E486G	probably damaging	Het
Crybg3	C	T	16: 59,530,201	C892Y	probably damaging	Het
Cttn	A	T	7: 144,454,716	F176L	probably damaging	Het
Cytip	T	A	2: 58,160,012	N15I	possibly damaging	Het
Dgkb	A	G	12: 38,427,493	E634G	possibly damaging	Het
Duox1	A	G	2: 122,333,777	E906G	probably benign	Het
Efcab6	A	T	15: 83,933,168	S735T	probably benign	Het
Elfn1	T	C	5: 139,972,053	S271P	probably benign	Het
Ep300	T	A	15: 81,611,410		probably benign	Het
Ep300	T	C	15: 81,649,009	S1756P	unknown	Het
Fam166a	T	C	2: 25,220,288	S71P	probably benign	Het
Frmd4a	C	A	2: 4,603,679	A786E	possibly damaging	Het
Ftcd	A	C	10: 76,589,258	E524D	probably benign	Het
Gfod2	T	C	8: 105,728,246	M1V	probably null	Het
Gm12790	T	C	4: 101,968,127	D30G	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gsta4	A	T	9: 78,206,020	R127S	probably benign	Het
Hcn2	G	A	10: 79,724,448		probably null	Het
Hectd1	A	G	12: 51,751,932	V2135A	probably damaging	Het
Hoxc6	A	G	15: 103,009,661	D19G	probably benign	Het
Hydin	A	T	8: 110,267,339	T2S	unknown	Het
Ifna14	A	T	4: 88,571,510	S97T	possibly damaging	Het
Igkv17-127	T	C	6: 67,861,199	L14P	unknown	Het
Il17rb	A	G	14: 30,002,399	V166A	probably damaging	Het
Iqca	T	A	1: 90,073,750	I520F	probably damaging	Het
Kcnv2	G	T	19: 27,323,594	V282L	probably benign	Het
Klk12	A	G	7: 43,773,243	D198G	probably damaging	Het
Kntc1	T	G	5: 123,765,955	L345R	probably damaging	Het
Lrfn5	A	G	12: 61,843,977	D684G	probably benign	Het
Mef2a	T	C	7: 67,240,439	N131S	probably benign	Het
Mis18bp1	T	C	12: 65,153,881	Y124C	probably damaging	Het
Myh2	T	A	11: 67,173,258	V48D	possibly damaging	Het
Nat10	A	G	2: 103,754,072	M120T	probably damaging	Het
Nf1	T	C	11: 79,445,759	S1065P	probably damaging	Het
Nfib	A	T	4: 82,296,811	S518R	probably damaging	Het
Pced1a	A	C	2: 130,422,676	L78R	probably damaging	Het
Peli3	T	C	19: 4,934,458	D192G	probably benign	Het
Plb1	C	T	5: 32,247,557	Q20*	probably null	Het
Pomgnt2	G	A	9: 121,983,065	R217C	probably damaging	Het
Ptprd	C	T	4: 76,243,786	V78I	possibly damaging	Het
Rngtt	A	G	4: 33,339,050	E285G	probably benign	Het
Sclt1	G	A	3: 41,671,465	Q356*	probably null	Het
Scn2b	T	C	9: 45,126,162	F169S	possibly damaging	Het
Sfta2	C	T	17: 35,649,883		probably benign	Het
Srpr	T	C	9: 35,214,608	I394T	possibly damaging	Het
Sspo	A	C	6: 48,463,373	D1541A	possibly damaging	Het
Strc	G	A	2: 121,378,003	L296F	possibly damaging	Het
Svop	C	T	5: 114,065,682	V13M	probably damaging	Het
Taf6l	C	A	19: 8,783,971	R10L	possibly damaging	Het
Tbx3	G	T	5: 119,682,776	R617L	probably damaging	Het
Tnrc6a	A	G	7: 123,184,221	R1471G	possibly damaging	Het
Togaram1	T	C	12: 65,020,326	L1714P	probably damaging	Het
Traf3ip2	A	G	10: 39,634,654	N308D	probably damaging	Het
Trim30b	T	C	7: 104,357,331	Y106C	possibly damaging	Het
Vcp	A	T	4: 42,984,565	M442K	probably benign	Het
Vmn2r16	A	T	5: 109,363,799	Y624F	possibly damaging	Het
Vmn2r52	A	T	7: 10,170,690	H407Q	probably damaging	Het
Vps13a	A	T	19: 16,682,110	D1684E	probably damaging	Het
Wdr49	T	C	3: 75,335,243	M380V	probably benign	Het

Other mutations in Ercc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Ercc5	APN	1	44163898	missense	probably damaging	1.00
IGL00782:Ercc5	APN	1	44163935	missense	probably damaging	1.00
IGL01418:Ercc5	APN	1	44167280	missense	probably benign	0.43
IGL01710:Ercc5	APN	1	44164075	missense	probably damaging	1.00
IGL02528:Ercc5	APN	1	44167802	missense	probably benign	0.00
IGL02589:Ercc5	APN	1	44164049	missense	probably damaging	1.00
IGL02651:Ercc5	APN	1	44156944	missense	probably damaging	1.00
IGL02740:Ercc5	APN	1	44167492	missense	probably benign	0.00
IGL02999:Ercc5	APN	1	44167654	missense	probably benign	0.00
IGL03057:Ercc5	APN	1	44167001	missense	probably damaging	0.99
IGL03246:Ercc5	APN	1	44167081	missense	probably damaging	1.00
R0084:Ercc5	UTSW	1	44175976	missense	possibly damaging	0.53
R0448:Ercc5	UTSW	1	44173940	missense	probably damaging	1.00
R1120:Ercc5	UTSW	1	44161841	missense	probably damaging	1.00
R1312:Ercc5	UTSW	1	44164019	missense	probably damaging	1.00
R1411:Ercc5	UTSW	1	44178281	missense	probably damaging	0.99
R1462:Ercc5	UTSW	1	44180624	missense	probably damaging	0.98
R1462:Ercc5	UTSW	1	44180624	missense	probably damaging	0.98
R1528:Ercc5	UTSW	1	44178241	nonsense	probably null
R1637:Ercc5	UTSW	1	44167534	missense	probably benign	0.00
R1668:Ercc5	UTSW	1	44167033	missense	probably benign	0.04
R1714:Ercc5	UTSW	1	44167339	missense	probably benign	0.01
R1780:Ercc5	UTSW	1	44167796	missense	probably benign	0.17
R1800:Ercc5	UTSW	1	44173380	missense	probably benign	0.00
R1835:Ercc5	UTSW	1	44180875	missense	probably benign	0.00
R1836:Ercc5	UTSW	1	44180875	missense	probably benign	0.00
R1886:Ercc5	UTSW	1	44175976	nonsense	probably null
R2344:Ercc5	UTSW	1	44167169	missense	probably benign
R2680:Ercc5	UTSW	1	44156973	missense	probably benign	0.09
R3033:Ercc5	UTSW	1	44180574	missense	possibly damaging	0.83
R3919:Ercc5	UTSW	1	44161931	missense	probably damaging	1.00
R3933:Ercc5	UTSW	1	44167856	missense	probably benign	0.17
R4444:Ercc5	UTSW	1	44158209	frame shift	probably null
R4585:Ercc5	UTSW	1	44158857	missense	probably benign	0.36
R4586:Ercc5	UTSW	1	44158857	missense	probably benign	0.36
R4911:Ercc5	UTSW	1	44166871	missense	possibly damaging	0.66
R4912:Ercc5	UTSW	1	44157057	missense	probably damaging	1.00
R4942:Ercc5	UTSW	1	44175965	missense	probably benign	0.09
R5155:Ercc5	UTSW	1	44180622	missense	probably damaging	1.00
R5975:Ercc5	UTSW	1	44173406	missense	probably benign	0.04
R5991:Ercc5	UTSW	1	44180830	nonsense	probably null
R6161:Ercc5	UTSW	1	44167352	missense	probably benign	0.00
R6250:Ercc5	UTSW	1	44164049	missense	probably damaging	1.00
R7142:Ercc5	UTSW	1	44174214	missense	probably damaging	1.00
R7183:Ercc5	UTSW	1	44161808	critical splice acceptor site	probably null
R7183:Ercc5	UTSW	1	44161809	critical splice acceptor site	probably null
R7235:Ercc5	UTSW	1	44178203	missense	possibly damaging	0.68
R7349:Ercc5	UTSW	1	44180908	missense	possibly damaging	0.56
R7369:Ercc5	UTSW	1	44180860	missense	probably benign	0.39
R7486:Ercc5	UTSW	1	44148064	start codon destroyed	probably null	1.00
R7586:Ercc5	UTSW	1	44175851	missense	possibly damaging	0.49
R7904:Ercc5	UTSW	1	44175838	critical splice acceptor site	probably null
R7994:Ercc5	UTSW	1	44178334	missense	possibly damaging	0.94
R8432:Ercc5	UTSW	1	44167681	nonsense	probably null
X0011:Ercc5	UTSW	1	44180622	missense	probably damaging	1.00
X0062:Ercc5	UTSW	1	44173974	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAATTCCGCTGTTCTTTCGGGAG -3'
(R):5'- AGCCACTCTGCTGTGAGAAC -3'

Sequencing Primer
(F):5'- CCTTCAAGCCCTGGTGAC -3'
(R):5'- GCCACTCTGCTGTGAGAACTAAAG -3'

Posted On

2017-11-30