Mutagenetix > Incidental Mutation

Incidental Mutation 'R1800:Ercc5'

202999

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

039830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1800 (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 44212540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 666 (L666P)

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: L666P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048
AA Change: L666P

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.2%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,479 (GRCm39)	K556R	probably damaging	Het
4933406P04Rik	A	T	10: 20,186,893 (GRCm39)		probably benign	Het
Acmsd	C	A	1: 127,687,493 (GRCm39)	Y258*	probably null	Het
Adgrf5	A	T	17: 43,761,973 (GRCm39)	I1223F	probably damaging	Het
Afp	C	T	5: 90,638,655 (GRCm39)	P6S	probably benign	Het
Agap2	C	A	10: 126,927,540 (GRCm39)	H1120Q	probably damaging	Het
Angpt1	A	G	15: 42,375,800 (GRCm39)	V152A	probably damaging	Het
Ankrd1	A	T	19: 36,096,759 (GRCm39)	F23I	probably damaging	Het
Armc12	T	C	17: 28,757,869 (GRCm39)	S334P	possibly damaging	Het
Arnt2	C	A	7: 83,924,583 (GRCm39)	D415Y	probably damaging	Het
Cacna1s	G	T	1: 136,004,592 (GRCm39)	V131L	probably benign	Het
Cacna2d2	T	C	9: 107,404,632 (GRCm39)	V1141A	possibly damaging	Het
Cfap61	T	C	2: 145,884,542 (GRCm39)	L580P	probably damaging	Het
Chga	A	T	12: 102,522,164 (GRCm39)	S23C	probably damaging	Het
Chrna5	A	G	9: 54,912,159 (GRCm39)	T320A	probably damaging	Het
Col17a1	G	T	19: 47,639,301 (GRCm39)	N1081K	possibly damaging	Het
Cox7b2	A	T	5: 71,600,406 (GRCm39)	C51S	possibly damaging	Het
Cstdc3	T	A	16: 36,132,895 (GRCm39)	D57E	probably damaging	Het
Cwc22	A	T	2: 77,759,797 (GRCm39)	D83E	possibly damaging	Het
D130043K22Rik	A	C	13: 25,067,877 (GRCm39)	D871A	probably damaging	Het
Dab2	A	T	15: 6,464,948 (GRCm39)	M361L	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dnmbp	A	G	19: 43,890,159 (GRCm39)	I536T	probably benign	Het
Ehmt1	A	T	2: 24,774,302 (GRCm39)	S43R	probably damaging	Het
F5	A	G	1: 164,010,403 (GRCm39)	H378R	probably damaging	Het
Fat2	A	T	11: 55,174,718 (GRCm39)	N1998K	probably damaging	Het
Fbxo28	T	C	1: 182,169,099 (GRCm39)	D13G	unknown	Het
Fras1	T	C	5: 96,857,741 (GRCm39)	S2012P	probably benign	Het
Gm5624	T	A	14: 44,799,302 (GRCm39)	N41I	probably damaging	Het
Gm8104	A	G	14: 42,959,028 (GRCm39)	I73V	possibly damaging	Het
Gpr141b	T	C	13: 19,913,849 (GRCm39)		noncoding transcript	Het
Gpr68	G	A	12: 100,845,167 (GRCm39)	P126S	probably damaging	Het
Gucy1a2	A	T	9: 3,582,685 (GRCm39)	T156S	possibly damaging	Het
Hacl1	T	A	14: 31,336,221 (GRCm39)	Y429F	probably damaging	Het
Haus3	A	C	5: 34,320,916 (GRCm39)	L510R	probably damaging	Het
Helq	C	T	5: 100,921,990 (GRCm39)	G738D	probably benign	Het
Hsd3b2	G	C	3: 98,619,553 (GRCm39)	P131A	probably damaging	Het
Il22ra1	G	T	4: 135,475,471 (GRCm39)	C247F	probably benign	Het
Ivl	T	C	3: 92,479,891 (GRCm39)	E58G	unknown	Het
Kcnk9	G	T	15: 72,417,948 (GRCm39)	Q61K	probably benign	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Loxhd1	G	T	18: 77,490,198 (GRCm39)	A1314S	probably damaging	Het
Lratd1	T	C	12: 14,200,226 (GRCm39)	Y167C	probably damaging	Het
Lrba	A	G	3: 86,259,175 (GRCm39)	I1397V	probably benign	Het
Lrig3	T	A	10: 125,832,920 (GRCm39)		probably null	Het
Lrrc36	A	G	8: 106,176,397 (GRCm39)	D378G	probably damaging	Het
Lrrc49	G	A	9: 60,505,474 (GRCm39)	T527I	probably damaging	Het
Map4k4	C	A	1: 40,062,620 (GRCm39)	T1195K	probably damaging	Het
Mrps33	G	A	6: 39,779,429 (GRCm39)	R89C	probably damaging	Het
Mtor	T	C	4: 148,547,349 (GRCm39)	V444A	probably benign	Het
Myh2	A	G	11: 67,079,764 (GRCm39)	E1046G	probably damaging	Het
Myo15b	G	T	11: 115,771,335 (GRCm39)		probably null	Het
Myo5c	T	C	9: 75,153,446 (GRCm39)	Y111H	probably damaging	Het
Ncoa4-ps	A	T	12: 119,225,506 (GRCm39)		noncoding transcript	Het
Ndufv2	G	C	17: 66,390,481 (GRCm39)	T163R	probably damaging	Het
Nf1	A	G	11: 79,444,794 (GRCm39)	N373S	possibly damaging	Het
Nwd2	A	G	5: 63,962,917 (GRCm39)	M834V	probably benign	Het
Ogfod2	T	C	5: 124,253,019 (GRCm39)	V343A	probably damaging	Het
Or11g2	C	T	14: 50,856,143 (GRCm39)	L155F	probably benign	Het
Or11j4	C	A	14: 50,630,786 (GRCm39)	S191*	probably null	Het
Or3a1b	A	T	11: 74,012,234 (GRCm39)	T40S	probably benign	Het
Or4c115	T	A	2: 88,928,050 (GRCm39)	T74S	probably benign	Het
Or51ag1	T	C	7: 103,155,248 (GRCm39)	I302V	possibly damaging	Het
Or52ab2	T	A	7: 102,969,621 (GRCm39)	M1K	probably null	Het
Or8g34	A	T	9: 39,373,410 (GRCm39)	I228F	probably damaging	Het
Parp1	T	A	1: 180,428,091 (GRCm39)		probably null	Het
Ppp3ca	A	T	3: 136,640,792 (GRCm39)	I448F	probably damaging	Het
Prss44	T	C	9: 110,646,272 (GRCm39)	V333A	probably damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rars1	A	C	11: 35,716,822 (GRCm39)	D231E	probably benign	Het
Rfc1	T	C	5: 65,421,722 (GRCm39)	Y1059C	probably damaging	Het
Rilpl1	T	A	5: 124,652,719 (GRCm39)	I2F	probably damaging	Het
Sarm1	G	T	11: 78,381,820 (GRCm39)	A221E	possibly damaging	Het
Serpina3f	A	G	12: 104,183,665 (GRCm39)	T176A	probably damaging	Het
Slc22a20	T	C	19: 6,035,695 (GRCm39)	E131G	probably benign	Het
Slc26a11	T	C	11: 119,263,979 (GRCm39)	V343A	probably damaging	Het
Slc2a4	A	G	11: 69,837,133 (GRCm39)	I9T	probably benign	Het
Slc39a6	G	T	18: 24,718,259 (GRCm39)	D599E	probably damaging	Het
Slc5a6	G	T	5: 31,198,020 (GRCm39)	S285*	probably null	Het
Spata9	A	G	13: 76,125,760 (GRCm39)	H81R	probably benign	Het
St7l	A	G	3: 104,826,812 (GRCm39)	E436G	probably damaging	Het
Tecrl	A	G	5: 83,427,077 (GRCm39)	I357T	probably damaging	Het
Thop1	C	T	10: 80,909,043 (GRCm39)	R25C	probably damaging	Het
Tmprss12	A	G	15: 100,190,428 (GRCm39)	E266G	probably benign	Het
Tpgs1	T	A	10: 79,511,344 (GRCm39)	V162D	possibly damaging	Het
Trpa1	C	T	1: 14,944,648 (GRCm39)	R1032Q	probably benign	Het
Tspan12	A	G	6: 21,795,699 (GRCm39)	Y164H	probably damaging	Het
Ubr4	T	C	4: 139,135,274 (GRCm39)	Y869H	probably damaging	Het
Vmn1r21	A	G	6: 57,820,799 (GRCm39)	I215T	probably benign	Het
Zan	A	T	5: 137,384,713 (GRCm39)	S5104T	unknown	Het
Zfp318	T	C	17: 46,722,980 (GRCm39)	V1661A	probably benign	Het
Zfp365	C	T	10: 67,724,772 (GRCm39)	R372K	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
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
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'- ATAGGCATCTGTGGTGCAC -3'
(R):5'- ATTCGTTGGGCATGTCCTCAG -3'

Sequencing Primer
(F):5'- TGCACTGTAGCAAACTAGTGAGTTG -3'
(R):5'- GGGCATGTCCTCAGCATCTATG -3'

Posted On

2014-06-23