Mutagenetix > Incidental Mutations

Incidental Mutation 'R7486:Ercc5'

580131

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44147744-44181260 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 44148064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000027214 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000027214
AA Change: M1K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048
AA Change: M1K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,558,883	I702V	probably benign	Het
Adgre5	T	C	8: 83,723,886	E815G	probably damaging	Het
Adgrl2	A	G	3: 148,817,694	V298A		Het
Akp3	A	G	1: 87,125,479	D91G	probably damaging	Het
Ano8	A	G	8: 71,484,998		probably null	Het
Blvra	T	C	2: 127,087,323	S136P	unknown	Het
Cacul1	T	A	19: 60,580,430	M97L	probably benign	Het
Ccdc80	T	C	16: 45,126,179	V827A	probably damaging	Het
Cep68	T	C	11: 20,242,166	E11G	probably benign	Het
Cfap221	A	T	1: 119,923,592	V813E	possibly damaging	Het
Chd6	A	G	2: 160,950,003	V2478A	probably damaging	Het
Chmp6	T	C	11: 119,916,957	F148S	probably benign	Het
Clca3a2	T	A	3: 144,797,601	I863F	probably damaging	Het
Cnnm2	T	C	19: 46,762,074	V101A	possibly damaging	Het
Cpne8	A	T	15: 90,515,906		probably null	Het
Dmbt1	T	G	7: 131,066,462	C483G	unknown	Het
Dnah7b	G	A	1: 46,290,734	G3246D	probably damaging	Het
Dnajc3	C	A	14: 118,972,404	T297K	probably benign	Het
Dpm3	A	G	3: 89,266,727		probably null	Het
Eef2k	A	G	7: 120,858,570	N51D	probably benign	Het
Erc1	G	A	6: 119,594,946	Q1022*	probably null	Het
Fam114a2	C	T	11: 57,513,689	G83D	probably damaging	Het
Fat4	C	A	3: 38,957,427	Y2225*	probably null	Het
Frk	G	A	10: 34,547,296	W123*	probably null	Het
Gm11568	T	A	11: 99,858,466	C166S	unknown	Het
Gm12666	A	T	4: 92,191,269	V105E	probably benign	Het
Gpr153	A	G	4: 152,282,401	D337G	probably benign	Het
Gpt2	T	C	8: 85,525,606	F517L	probably damaging	Het
Gsg1	C	T	6: 135,237,429	E361K	probably benign	Het
Hsfy2	G	A	1: 56,636,971	R136*	probably null	Het
Insm1	G	A	2: 146,223,818	R518H	probably damaging	Het
Kank1	G	A	19: 25,410,829	C622Y	probably damaging	Het
Katnb1	T	A	8: 95,098,729	S640R	probably damaging	Het
Kcnmb4	A	G	10: 116,418,275	V199A	probably benign	Het
Lamb1	T	G	12: 31,287,442	S391A	probably benign	Het
Macf1	T	G	4: 123,409,581	D376A	probably benign	Het
Map7d1	C	A	4: 126,234,386	R614L	unknown	Het
Mcm8	C	T	2: 132,839,520	R667W	probably damaging	Het
Med13l	C	T	5: 118,728,474	T531I	probably benign	Het
Mstn	G	T	1: 53,063,969	A155S	probably damaging	Het
Mycbp2	C	T	14: 103,197,254	R2251K	probably damaging	Het
Myo19	T	C	11: 84,905,637	S692P	probably benign	Het
Nipbl	A	T	15: 8,295,636	N2514K	probably benign	Het
Nkd2	T	A	13: 73,847,442		probably benign	Het
Nox3	T	A	17: 3,669,944	Y322F	probably damaging	Het
Nt5dc1	A	G	10: 34,399,809	Y135H	probably benign	Het
Olfr389	T	C	11: 73,777,021	Y102C	probably damaging	Het
Olfr533	C	T	7: 140,466,034		probably benign	Het
Olfr979	T	A	9: 40,000,885	Y114F	probably benign	Het
Oog3	T	A	4: 144,158,172	H398L	probably benign	Het
Otogl	A	G	10: 107,821,988	L1027P	probably damaging	Het
Pcdh20	T	A	14: 88,468,614	I417F	possibly damaging	Het
Pcdha12	T	A	18: 37,021,557	V443E	probably damaging	Het
Pcdhga2	A	G	18: 37,670,408	D435G	probably benign	Het
Pcnt	G	T	10: 76,418,436	T853K	probably benign	Het
Pcnt	T	C	10: 76,418,437	T853A	probably benign	Het
Pgghg	T	A	7: 140,942,480	S57R	probably benign	Het
Ppm1m	T	C	9: 106,196,611	D301G	probably damaging	Het
Ppp6r1	A	G	7: 4,639,900	V519A	probably benign	Het
Prss41	ACAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCA	17: 23,844,098		probably benign	Het
Rasa3	C	T	8: 13,590,201		probably null	Het
Robo4	T	C	9: 37,405,574	V395A	probably damaging	Het
Scrib	A	G	15: 76,057,650	S1123P	probably damaging	Het
Setd1b	A	G	5: 123,163,592	K45E	probably benign	Het
Slc14a1	T	C	18: 78,111,524	S216G	probably benign	Het
Slc25a45	A	G	19: 5,884,969	Y282C	probably damaging	Het
Slc6a5	T	C	7: 49,917,330	S255P	possibly damaging	Het
Smc2	A	T	4: 52,462,861	Q617L	possibly damaging	Het
Spo11	G	A	2: 172,984,077	D103N	probably benign	Het
Tcf20	A	T	15: 82,853,734	M1172K	possibly damaging	Het
Tesc	T	A	5: 118,046,317	S21T	probably benign	Het
Tie1	C	A	4: 118,479,904		probably null	Het
Trim24	T	G	6: 37,957,839		probably null	Het
Trpm7	A	G	2: 126,831,195		probably null	Het
Unc13d	T	C	11: 116,074,433	D193G	possibly damaging	Het
Upk3a	A	T	15: 85,018,024		probably null	Het
Vmn2r25	T	C	6: 123,823,142	N747S	probably damaging	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,440,074		probably benign	Het
Zbtb2	G	A	10: 4,369,025	Q334*	probably null	Het
Zfp653	T	C	9: 22,056,528	N494D	probably damaging	Het
Zfp865	A	G	7: 5,031,260	D748G	possibly damaging	Het
Zzef1	T	C	11: 72,864,786	S1014P	possibly damaging	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
R4578:Ercc5	UTSW	1	44148148	missense	probably benign	0.32
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
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
R8795:Ercc5	UTSW	1	44163929	missense	possibly damaging	0.92
R9144:Ercc5	UTSW	1	44174351	missense	probably damaging	1.00
R9208:Ercc5	UTSW	1	44178343	missense	possibly damaging	0.51
R9295:Ercc5	UTSW	1	44158857	missense	probably damaging	1.00
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'- AATTCCGCTGTTCTTTCGGG -3'
(R):5'- CCTGCACTCTAGATAGACAGAC -3'

Sequencing Primer
(F):5'- GAGACCGGGTCCGCTCC -3'
(R):5'- TCTAGATAGACAGACACCCAATCG -3'

Posted On

2019-10-07