Mutagenetix > Incidental Mutation

Incidental Mutation 'R4444:Ercc5'

329790

Institutional Source

Beutler Lab

Gene Symbol

Ercc5

Ensembl Gene

ENSMUSG00000026048

Gene Name

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

Synonyms

Xpg

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4444 (G1)

Quality Score

155

Status

Not validated

Chromosome

Chromosomal Location

44186904-44220420 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GAAAA to GAAAAA at 44197369 bp (GRCm39)

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155862

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	G	T	7: 45,785,618 (GRCm39)	T695N	probably benign	Het
Cdkl2	G	A	5: 92,168,168 (GRCm39)	T342I	probably benign	Het
Cntn5	C	A	9: 9,704,947 (GRCm39)	E822D	probably damaging	Het
Cysltr2	G	A	14: 73,267,333 (GRCm39)	H126Y	possibly damaging	Het
Dlg2	T	C	7: 91,737,801 (GRCm39)	S428P	probably damaging	Het
Egfr	A	G	11: 16,821,027 (GRCm39)	D314G	probably benign	Het
Gemin4	A	G	11: 76,102,917 (GRCm39)	F615L	probably benign	Het
Ggn	A	G	7: 28,871,585 (GRCm39)	T322A	probably benign	Het
Hunk	C	T	16: 90,229,679 (GRCm39)	A180V	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Myo1b	A	T	1: 51,797,078 (GRCm39)	I988N	probably damaging	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Or2ag1b	T	A	7: 106,288,353 (GRCm39)	Y195F	possibly damaging	Het
Plb1	G	A	5: 32,487,909 (GRCm39)	V930I	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Retreg1	T	G	15: 25,968,530 (GRCm39)		probably null	Het
Rnf13	A	C	3: 57,728,010 (GRCm39)	K230T	probably damaging	Het
Rpl9-ps1	T	C	11: 83,536,207 (GRCm39)	I81V	possibly damaging	Het
Slco1c1	A	G	6: 141,492,417 (GRCm39)	T267A	possibly damaging	Het
Spc25	A	T	2: 69,035,220 (GRCm39)	M47K	probably benign	Het
Syne2	A	G	12: 76,069,804 (GRCm39)	E4377G	probably damaging	Het
Usp34	A	G	11: 23,385,998 (GRCm39)	T2142A	probably damaging	Het
Zc3h7a	A	G	16: 10,968,457 (GRCm39)		probably null	Het
Zfp169	T	A	13: 48,643,813 (GRCm39)	K438M	possibly damaging	Het

Other mutations in Ercc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Ercc5	APN	1	44,203,058 (GRCm39)	missense	probably damaging	1.00
IGL00782:Ercc5	APN	1	44,203,095 (GRCm39)	missense	probably damaging	1.00
IGL01418:Ercc5	APN	1	44,206,440 (GRCm39)	missense	probably benign	0.43
IGL01710:Ercc5	APN	1	44,203,235 (GRCm39)	missense	probably damaging	1.00
IGL02528:Ercc5	APN	1	44,206,962 (GRCm39)	missense	probably benign	0.00
IGL02589:Ercc5	APN	1	44,203,209 (GRCm39)	missense	probably damaging	1.00
IGL02651:Ercc5	APN	1	44,196,104 (GRCm39)	missense	probably damaging	1.00
IGL02740:Ercc5	APN	1	44,206,652 (GRCm39)	missense	probably benign	0.00
IGL02999:Ercc5	APN	1	44,206,814 (GRCm39)	missense	probably benign	0.00
IGL03057:Ercc5	APN	1	44,206,161 (GRCm39)	missense	probably damaging	0.99
IGL03246:Ercc5	APN	1	44,206,241 (GRCm39)	missense	probably damaging	1.00
R0084:Ercc5	UTSW	1	44,215,136 (GRCm39)	missense	possibly damaging	0.53
R0448:Ercc5	UTSW	1	44,213,100 (GRCm39)	missense	probably damaging	1.00
R1120:Ercc5	UTSW	1	44,201,001 (GRCm39)	missense	probably damaging	1.00
R1312:Ercc5	UTSW	1	44,203,179 (GRCm39)	missense	probably damaging	1.00
R1411:Ercc5	UTSW	1	44,217,441 (GRCm39)	missense	probably damaging	0.99
R1462:Ercc5	UTSW	1	44,219,784 (GRCm39)	missense	probably damaging	0.98
R1462:Ercc5	UTSW	1	44,219,784 (GRCm39)	missense	probably damaging	0.98
R1528:Ercc5	UTSW	1	44,217,401 (GRCm39)	nonsense	probably null
R1637:Ercc5	UTSW	1	44,206,694 (GRCm39)	missense	probably benign	0.00
R1668:Ercc5	UTSW	1	44,206,193 (GRCm39)	missense	probably benign	0.04
R1714:Ercc5	UTSW	1	44,206,499 (GRCm39)	missense	probably benign	0.01
R1780:Ercc5	UTSW	1	44,206,956 (GRCm39)	missense	probably benign	0.17
R1800:Ercc5	UTSW	1	44,212,540 (GRCm39)	missense	probably benign	0.00
R1835:Ercc5	UTSW	1	44,220,035 (GRCm39)	missense	probably benign	0.00
R1836:Ercc5	UTSW	1	44,220,035 (GRCm39)	missense	probably benign	0.00
R1886:Ercc5	UTSW	1	44,215,136 (GRCm39)	nonsense	probably null
R2344:Ercc5	UTSW	1	44,206,329 (GRCm39)	missense	probably benign
R2680:Ercc5	UTSW	1	44,196,133 (GRCm39)	missense	probably benign	0.09
R3033:Ercc5	UTSW	1	44,219,734 (GRCm39)	missense	possibly damaging	0.83
R3919:Ercc5	UTSW	1	44,201,091 (GRCm39)	missense	probably damaging	1.00
R3933:Ercc5	UTSW	1	44,207,016 (GRCm39)	missense	probably benign	0.17
R4578:Ercc5	UTSW	1	44,187,308 (GRCm39)	missense	probably benign	0.32
R4585:Ercc5	UTSW	1	44,198,017 (GRCm39)	missense	probably benign	0.36
R4586:Ercc5	UTSW	1	44,198,017 (GRCm39)	missense	probably benign	0.36
R4911:Ercc5	UTSW	1	44,206,031 (GRCm39)	missense	possibly damaging	0.66
R4912:Ercc5	UTSW	1	44,196,217 (GRCm39)	missense	probably damaging	1.00
R4942:Ercc5	UTSW	1	44,215,125 (GRCm39)	missense	probably benign	0.09
R5155:Ercc5	UTSW	1	44,219,782 (GRCm39)	missense	probably damaging	1.00
R5975:Ercc5	UTSW	1	44,212,566 (GRCm39)	missense	probably benign	0.04
R5991:Ercc5	UTSW	1	44,219,990 (GRCm39)	nonsense	probably null
R6161:Ercc5	UTSW	1	44,206,512 (GRCm39)	missense	probably benign	0.00
R6250:Ercc5	UTSW	1	44,203,209 (GRCm39)	missense	probably damaging	1.00
R7142:Ercc5	UTSW	1	44,213,374 (GRCm39)	missense	probably damaging	1.00
R7183:Ercc5	UTSW	1	44,200,969 (GRCm39)	critical splice acceptor site	probably null
R7183:Ercc5	UTSW	1	44,200,968 (GRCm39)	critical splice acceptor site	probably null
R7235:Ercc5	UTSW	1	44,217,363 (GRCm39)	missense	possibly damaging	0.68
R7349:Ercc5	UTSW	1	44,220,068 (GRCm39)	missense	possibly damaging	0.56
R7369:Ercc5	UTSW	1	44,220,020 (GRCm39)	missense	probably benign	0.39
R7486:Ercc5	UTSW	1	44,187,224 (GRCm39)	start codon destroyed	probably null	1.00
R7586:Ercc5	UTSW	1	44,215,011 (GRCm39)	missense	possibly damaging	0.49
R7904:Ercc5	UTSW	1	44,214,998 (GRCm39)	critical splice acceptor site	probably null
R7994:Ercc5	UTSW	1	44,217,494 (GRCm39)	missense	possibly damaging	0.94
R8432:Ercc5	UTSW	1	44,206,841 (GRCm39)	nonsense	probably null
R8795:Ercc5	UTSW	1	44,203,089 (GRCm39)	missense	possibly damaging	0.92
R9144:Ercc5	UTSW	1	44,213,511 (GRCm39)	missense	probably damaging	1.00
R9208:Ercc5	UTSW	1	44,217,503 (GRCm39)	missense	possibly damaging	0.51
R9295:Ercc5	UTSW	1	44,198,017 (GRCm39)	missense	probably damaging	1.00
R9516:Ercc5	UTSW	1	44,207,041 (GRCm39)	missense	probably damaging	1.00
X0011:Ercc5	UTSW	1	44,219,782 (GRCm39)	missense	probably damaging	1.00
X0062:Ercc5	UTSW	1	44,213,134 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTGCTAACTGCTCATTGCG -3'
(R):5'- AAGTCCAACGCTATCTATCTGC -3'

Sequencing Primer
(F):5'- CCTGCTTAAGAGATACCTTTCTGAG -3'
(R):5'- AACGCTATCTATCTGCTCACTC -3'

Posted On

2015-07-21