Mutagenetix > Incidental Mutations

Incidental Mutation 'R7904:Ercc5'

610132

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 #

R7904 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44147744-44181260 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to T at 44175838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027214 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000027214

SMART Domains

Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048

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

Meta Mutation Damage Score

0.9597

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	T	2: 130,792,003		probably null	Het
Adam8	G	A	7: 139,987,678	T384I	probably benign	Het
Astn1	T	C	1: 158,597,316	F691L	probably benign	Het
Azgp1	A	G	5: 137,987,607	E164G	probably damaging	Het
Bdp1	A	G	13: 100,041,436	V1975A	probably benign	Het
Cactin	T	C	10: 81,325,865	Y744H	possibly damaging	Het
Clstn1	T	A	4: 149,614,137	I60N	probably benign	Het
Col16a1	T	A	4: 130,054,208	C240*	probably null	Het
Col6a5	T	C	9: 105,928,521	D1062G	unknown	Het
Csmd2	T	C	4: 128,419,553	L1341P		Het
Cyp51	A	T	5: 4,100,173	F183L	probably damaging	Het
Dbnl	T	A	11: 5,791,779		probably null	Het
Ddx60	G	A	8: 61,977,890	V820I	possibly damaging	Het
Dnah11	T	A	12: 117,903,268	D4046V	possibly damaging	Het
Dnah6	G	A	6: 73,135,467		probably null	Het
Dnttip1	A	G	2: 164,747,552	Y89C	probably benign	Het
Efr3a	T	A	15: 65,824,678	V144E	probably damaging	Het
Epha8	T	C	4: 136,931,739	Q868R	possibly damaging	Het
Fam118a	A	G	15: 85,045,633	S21G	probably damaging	Het
Fam171b	T	C	2: 83,853,505	I122T	probably damaging	Het
Fam205a1	A	G	4: 42,850,765	S464P	possibly damaging	Het
Fam212b	T	C	3: 105,716,414	C35R	probably damaging	Het
Fat4	T	A	3: 38,887,541	S194R	probably damaging	Het
Fcho2	T	A	13: 98,796,363	T44S	possibly damaging	Het
Gm21698	C	A	5: 25,984,258	L232F	probably benign	Het
Gm5767	A	G	16: 8,683,817	H61R		Het
Gpr149	T	A	3: 62,594,935	D500V	probably benign	Het
Gpx8	T	A	13: 113,045,501	T133S	probably benign	Het
Hdlbp	A	T	1: 93,423,370	I542N	probably damaging	Het
Hid1	G	A	11: 115,355,361	S361F	probably damaging	Het
Igdcc4	C	A	9: 65,134,519	A1076E	probably benign	Het
Il4ra	A	G	7: 125,565,673	K7E	probably benign	Het
Itga9	G	T	9: 118,877,226		probably null	Het
Kif5c	T	C	2: 49,701,083	S316P	probably damaging	Het
Kmt5c	A	T	7: 4,746,159	T264S	probably damaging	Het
Lrrc18	A	G	14: 33,009,095	N197S	probably benign	Het
Mcoln1	C	A	8: 3,508,356	D203E	probably benign	Het
Mitf	T	C	6: 98,013,710	V358A	probably damaging	Het
Mki67	A	T	7: 135,693,087	L3161Q	possibly damaging	Het
Mmp20	T	A	9: 7,644,075	F255I	possibly damaging	Het
Muc16	T	C	9: 18,655,650	T1858A	unknown	Het
Mug1	G	A	6: 121,851,465	V279I	probably benign	Het
Olfr780	T	C	10: 129,321,796	Y58H	probably damaging	Het
Otulin	G	T	15: 27,630,494	A39E	probably benign	Het
Pcdh17	A	T	14: 84,448,484	D797V	possibly damaging	Het
Pdlim5	G	A	3: 142,312,393	S147L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Ppp2r1a	T	G	17: 20,961,741		probably null	Het
Ranbp6	T	C	19: 29,812,413	I180V	probably benign	Het
Rbm27	G	T	18: 42,332,856	R869L	probably damaging	Het
Rtn4r	A	G	16: 18,151,485	D259G	probably benign	Het
Ryr3	T	C	2: 112,781,024	E2271G	probably damaging	Het
Sbk1	A	G	7: 126,292,036	Y214C	probably damaging	Het
Scg3	C	T	9: 75,643,867	E459K	probably damaging	Het
Scin	T	G	12: 40,077,000	E449D	probably damaging	Het
Sel1l3	T	C	5: 53,139,824	K760R	probably benign	Het
Sh3pxd2a	A	G	19: 47,320,314	L145S	possibly damaging	Het
Sh3yl1	A	G	12: 30,941,996	D188G	probably benign	Het
Slc38a1	A	T	15: 96,624,040	L13Q	possibly damaging	Het
Smyd4	T	C	11: 75,349,787	I36T	possibly damaging	Het
Stab2	A	T	10: 86,954,192	L570*	probably null	Het
Tg	G	T	15: 66,705,279	A1484S	probably benign	Het
Tm7sf2	A	T	19: 6,068,912	N677K	probably damaging	Het
Tmem235	T	G	11: 117,860,891	L47R	probably damaging	Het
Tmem87a	A	G	2: 120,379,717	S252P	probably damaging	Het
Unc13b	A	G	4: 43,217,075	D458G	probably benign	Het
Wfdc1	A	G	8: 119,680,031		probably null	Het
Wnt16	A	G	6: 22,297,990	Y285C	probably damaging	Het
Wwc2	A	T	8: 47,856,235	N837K	unknown	Het
Xdh	A	G	17: 73,922,472	F329L	probably benign	Het
Yaf2	G	T	15: 93,285,585	H115N	probably benign	Het
Zbtb16	G	T	9: 48,832,972	N13K	probably damaging	Het
Zfhx3	A	T	8: 108,951,063	D2915V	probably damaging	Het
Zfp236	A	T	18: 82,609,382	V1564E	possibly damaging	Het
Zfp407	G	T	18: 84,561,256	H577Q	not run	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
R7486:Ercc5	UTSW	1	44148064	start codon destroyed	probably null	1.00
R7586:Ercc5	UTSW	1	44175851	missense	possibly damaging	0.49
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'- ATATGTCCTCGGATGTTGGTTTAAC -3'
(R):5'- ATGTACAATGACTTGGGACAGCTTG -3'

Sequencing Primer
(F):5'- AAGCAGAGGCCCATTGGATCTC -3'
(R):5'- TGCAACTTTGAGCTCAGCCTAAG -3'

Posted On

2019-12-20