Mutagenetix > Incidental Mutation

Incidental Mutation 'R2344:Ercc5'

245913

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 #

R2344 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44186904-44220420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44206329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 414 (M414T)

Ref Sequence

ENSEMBL: ENSMUSP00000027214 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027214
AA Change: M414T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048
AA Change: M414T

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: ENSMUST00000155862

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.4%

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
Arid4b	A	G	13: 14,328,075 (GRCm39)	Q247R	probably benign	Het
Bend7	A	T	2: 4,793,345 (GRCm39)	D383V	probably damaging	Het
Calm4	A	G	13: 3,888,298 (GRCm39)	K135E	possibly damaging	Het
Cdh23	T	C	10: 60,152,503 (GRCm39)	D2412G	probably damaging	Het
Col6a5	T	C	9: 105,805,736 (GRCm39)	T1057A	unknown	Het
Dpf3	T	G	12: 83,397,594 (GRCm39)	D90A	probably damaging	Het
Dtl	A	T	1: 191,280,490 (GRCm39)	M348K	probably benign	Het
Elmo3	T	C	8: 106,035,793 (GRCm39)	Y558H	probably damaging	Het
Epha3	C	T	16: 63,472,746 (GRCm39)	V79I	possibly damaging	Het
Fam217a	T	C	13: 35,094,318 (GRCm39)	I389M	probably damaging	Het
Fsip2	T	C	2: 82,820,257 (GRCm39)	F5330S	possibly damaging	Het
Grin2a	T	C	16: 9,481,099 (GRCm39)	I533V	probably benign	Het
Gsdma2	T	C	11: 98,546,417 (GRCm39)	L167P	probably damaging	Het
Gys2	A	T	6: 142,391,748 (GRCm39)	F505I	probably damaging	Het
Il6	A	T	5: 30,219,854 (GRCm39)	M77L	probably benign	Het
Or6c76b	A	T	10: 129,692,410 (GRCm39)	T8S	probably benign	Het
Pgm2l1	A	G	7: 99,909,115 (GRCm39)	I194V	probably damaging	Het
Rbpjl	G	T	2: 164,256,312 (GRCm39)	V433L	probably damaging	Het
Rps10	C	G	17: 27,853,081 (GRCm39)	R96P	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Supt16	T	C	14: 52,415,575 (GRCm39)	T387A	probably benign	Het
Usf3	C	T	16: 44,036,414 (GRCm39)	T298M	probably benign	Het
Usp49	T	C	17: 47,983,828 (GRCm39)	F278L	probably damaging	Het
Zfp729b	A	G	13: 67,740,352 (GRCm39)	C648R	probably 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
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
R4444:Ercc5	UTSW	1	44,197,369 (GRCm39)	frame shift	probably null
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'- TCTCCAAGAACTCTACTGGCTATTC -3'
(R):5'- TCGCGGTTGTAAATGAATGAGC -3'

Sequencing Primer
(F):5'- CCATGCTGGGAAGTAGCTCAG -3'
(R):5'- AAATGAATGAGCTGAGTCTGTCTGTC -3'

Posted On

2014-10-30