Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:Ercc5'

205125

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

039862-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44147744-44181260 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44180875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1102 (S1102R)

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: S1102R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048
AA Change: S1102R

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: 94.9%
20x: 91.0%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	T	11: 78,287,750 (GRCm38)	V1993F	probably damaging	Het
4933425L06Rik	C	A	13: 105,082,194 (GRCm38)	A12E	unknown	Het
Acss2	T	A	2: 155,558,630 (GRCm38)	Y530N	probably damaging	Het
Adam4	T	C	12: 81,419,559 (GRCm38)	I763V	probably benign	Het
Aipl1	T	G	11: 72,030,499 (GRCm38)	K190T	possibly damaging	Het
Alms1	T	A	6: 85,678,503 (GRCm38)	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,099,414 (GRCm38)	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,447,618 (GRCm38)	S365R	probably benign	Het
Aox2	G	A	1: 58,308,991 (GRCm38)	A623T	probably benign	Het
Apc	T	A	18: 34,317,077 (GRCm38)	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,778,883 (GRCm38)	V501I	probably benign	Het
Baz2b	T	C	2: 59,901,819 (GRCm38)	E1994G	probably benign	Het
Cacna1a	T	C	8: 84,581,357 (GRCm38)		probably null	Het
Cacna1h	C	A	17: 25,392,076 (GRCm38)	V583L	probably benign	Het
Cd55	T	C	1: 130,447,609 (GRCm38)		probably benign	Het
Cep192	T	A	18: 67,804,424 (GRCm38)	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,962,375 (GRCm38)	D1674V	probably benign	Het
Churc1	T	C	12: 76,773,297 (GRCm38)	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,848,543 (GRCm38)	I280T	probably benign	Het
Creb1	C	T	1: 64,550,950 (GRCm38)	Q32*	probably null	Het
Cyp2b9	A	G	7: 26,200,783 (GRCm38)	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813 (GRCm38)	R51G	probably damaging	Het
Ddb1	T	C	19: 10,626,593 (GRCm38)	V888A	probably damaging	Het
Disp1	A	G	1: 183,089,000 (GRCm38)	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,388,334 (GRCm38)	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,482,868 (GRCm38)	T143A	possibly damaging	Het
Eps8	T	A	6: 137,522,279 (GRCm38)	K204*	probably null	Het
Ergic2	T	A	6: 148,189,581 (GRCm38)	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,490,711 (GRCm38)	L274M	probably damaging	Het
Fat3	G	A	9: 15,998,088 (GRCm38)	T2206I	probably damaging	Het
Fat4	A	G	3: 38,983,571 (GRCm38)	I3791V	probably benign	Het
Gemin4	A	G	11: 76,213,296 (GRCm38)	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,118,407 (GRCm38)	M119V	probably benign	Het
Heatr5b	A	T	17: 78,773,563 (GRCm38)	L1420Q	probably damaging	Het
Herc2	G	T	7: 56,206,765 (GRCm38)	G3918*	probably null	Het
Ints9	A	G	14: 65,032,256 (GRCm38)	Y465C	probably damaging	Het
Ist1	A	G	8: 109,678,883 (GRCm38)	V175A	probably damaging	Het
Kcnj12	T	C	11: 61,069,557 (GRCm38)	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,466,387 (GRCm38)	S416G	probably benign	Het
Kdm3a	T	A	6: 71,613,956 (GRCm38)	T295S	probably benign	Het
Kif1c	T	A	11: 70,708,971 (GRCm38)	M479K	probably damaging	Het
Kif20b	T	C	19: 34,956,038 (GRCm38)	L83P	probably damaging	Het
Kndc1	A	G	7: 139,927,711 (GRCm38)	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,704,730 (GRCm38)	M81V	probably benign	Het
Map4k5	C	A	12: 69,824,662 (GRCm38)	M495I	probably damaging	Het
Mest	C	T	6: 30,742,791 (GRCm38)	R146C	probably benign	Het
Mettl24	T	A	10: 40,737,816 (GRCm38)		probably null	Het
Mical1	T	C	10: 41,483,535 (GRCm38)	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,589,946 (GRCm38)	Y77*	probably null	Het
Mss51	A	T	14: 20,483,178 (GRCm38)	C408*	probably null	Het
Myh6	T	C	14: 54,957,401 (GRCm38)	T666A	probably benign	Het
Myo10	T	C	15: 25,805,587 (GRCm38)	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,223,218 (GRCm38)	Y503*	probably null	Het
Neil1	A	C	9: 57,146,604 (GRCm38)	F144C	probably damaging	Het
Nipbl	T	A	15: 8,343,517 (GRCm38)	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Ntng2	G	A	2: 29,197,057 (GRCm38)	Q384*	probably null	Het
Ocrl	T	A	X: 47,962,116 (GRCm38)	I74N	probably damaging	Het
Olfr137	A	T	17: 38,305,312 (GRCm38)	S50T	probably benign	Het
Olfr1385	A	T	11: 49,494,670 (GRCm38)	I46F	probably damaging	Het
Olfr1408	A	G	1: 173,130,815 (GRCm38)	V134A	probably benign	Het
Olfr381	A	C	11: 73,486,374 (GRCm38)	V150G	probably benign	Het
Olfr535	A	G	7: 140,492,709 (GRCm38)	S24G	probably benign	Het
Olfr761	C	T	17: 37,952,385 (GRCm38)	G213E	possibly damaging	Het
Patj	A	G	4: 98,491,590 (GRCm38)	D151G	probably benign	Het
Plpbp	T	C	8: 27,049,231 (GRCm38)	V126A	probably damaging	Het
Pold2	A	G	11: 5,873,454 (GRCm38)	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,483,651 (GRCm38)	S480A	probably damaging	Het
Pum1	T	C	4: 130,701,048 (GRCm38)	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,179,091 (GRCm38)	G353A	probably damaging	Het
Reln	C	A	5: 21,979,002 (GRCm38)	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,265,925 (GRCm38)	I9V	probably benign	Het
Ryr2	T	C	13: 11,769,878 (GRCm38)	H1063R	probably benign	Het
Samd14	C	G	11: 95,023,600 (GRCm38)	D361E	probably damaging	Het
Samd15	A	T	12: 87,201,843 (GRCm38)	N365I	probably damaging	Het
Sec16b	A	G	1: 157,531,312 (GRCm38)	H105R	probably benign	Het
Sez6	T	C	11: 77,953,503 (GRCm38)	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,905,150 (GRCm38)	L236Q	probably damaging	Het
Sspo	C	T	6: 48,457,340 (GRCm38)	T991I	probably damaging	Het
Suco	A	T	1: 161,859,500 (GRCm38)	L97*	probably null	Het
Tab1	C	A	15: 80,148,296 (GRCm38)	R35S	probably benign	Het
Tet3	C	A	6: 83,404,163 (GRCm38)	S341I	possibly damaging	Het
Tlr1	A	T	5: 64,925,700 (GRCm38)	D511E	probably benign	Het
Tmem132b	A	C	5: 125,785,899 (GRCm38)	D656A	probably damaging	Het
Tmtc4	T	A	14: 122,941,988 (GRCm38)		probably null	Het
Trmo	T	C	4: 46,380,158 (GRCm38)	T404A	probably damaging	Het
Trpm1	A	G	7: 64,230,268 (GRCm38)	K790E	probably damaging	Het
Ulk4	C	A	9: 121,168,184 (GRCm38)	R774M	probably null	Het
Ush2a	C	T	1: 188,451,818 (GRCm38)	L1440F	probably benign	Het
Usp16	A	G	16: 87,480,907 (GRCm38)	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511 (GRCm38)	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,865,686 (GRCm38)	I255N	probably damaging	Het
Vmn2r61	A	T	7: 42,266,652 (GRCm38)	R230*	probably null	Het
Vps13c	T	A	9: 67,993,013 (GRCm38)	F3671L	probably benign	Het
Washc5	T	C	15: 59,359,340 (GRCm38)	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,151,617 (GRCm38)	K331E	probably damaging	Het
Zfp986	A	T	4: 145,899,235 (GRCm38)	K155I	probably benign	Het

Other mutations in Ercc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Ercc5	APN	1	44,163,898 (GRCm38)	missense	probably damaging	1.00
IGL00782:Ercc5	APN	1	44,163,935 (GRCm38)	missense	probably damaging	1.00
IGL01418:Ercc5	APN	1	44,167,280 (GRCm38)	missense	probably benign	0.43
IGL01710:Ercc5	APN	1	44,164,075 (GRCm38)	missense	probably damaging	1.00
IGL02528:Ercc5	APN	1	44,167,802 (GRCm38)	missense	probably benign	0.00
IGL02589:Ercc5	APN	1	44,164,049 (GRCm38)	missense	probably damaging	1.00
IGL02651:Ercc5	APN	1	44,156,944 (GRCm38)	missense	probably damaging	1.00
IGL02740:Ercc5	APN	1	44,167,492 (GRCm38)	missense	probably benign	0.00
IGL02999:Ercc5	APN	1	44,167,654 (GRCm38)	missense	probably benign	0.00
IGL03057:Ercc5	APN	1	44,167,001 (GRCm38)	missense	probably damaging	0.99
IGL03246:Ercc5	APN	1	44,167,081 (GRCm38)	missense	probably damaging	1.00
R0084:Ercc5	UTSW	1	44,175,976 (GRCm38)	missense	possibly damaging	0.53
R0448:Ercc5	UTSW	1	44,173,940 (GRCm38)	missense	probably damaging	1.00
R1120:Ercc5	UTSW	1	44,161,841 (GRCm38)	missense	probably damaging	1.00
R1312:Ercc5	UTSW	1	44,164,019 (GRCm38)	missense	probably damaging	1.00
R1411:Ercc5	UTSW	1	44,178,281 (GRCm38)	missense	probably damaging	0.99
R1462:Ercc5	UTSW	1	44,180,624 (GRCm38)	missense	probably damaging	0.98
R1462:Ercc5	UTSW	1	44,180,624 (GRCm38)	missense	probably damaging	0.98
R1528:Ercc5	UTSW	1	44,178,241 (GRCm38)	nonsense	probably null
R1637:Ercc5	UTSW	1	44,167,534 (GRCm38)	missense	probably benign	0.00
R1668:Ercc5	UTSW	1	44,167,033 (GRCm38)	missense	probably benign	0.04
R1714:Ercc5	UTSW	1	44,167,339 (GRCm38)	missense	probably benign	0.01
R1780:Ercc5	UTSW	1	44,167,796 (GRCm38)	missense	probably benign	0.17
R1800:Ercc5	UTSW	1	44,173,380 (GRCm38)	missense	probably benign	0.00
R1836:Ercc5	UTSW	1	44,180,875 (GRCm38)	missense	probably benign	0.00
R1886:Ercc5	UTSW	1	44,175,976 (GRCm38)	nonsense	probably null
R2344:Ercc5	UTSW	1	44,167,169 (GRCm38)	missense	probably benign
R2680:Ercc5	UTSW	1	44,156,973 (GRCm38)	missense	probably benign	0.09
R3033:Ercc5	UTSW	1	44,180,574 (GRCm38)	missense	possibly damaging	0.83
R3919:Ercc5	UTSW	1	44,161,931 (GRCm38)	missense	probably damaging	1.00
R3933:Ercc5	UTSW	1	44,167,856 (GRCm38)	missense	probably benign	0.17
R4444:Ercc5	UTSW	1	44,158,209 (GRCm38)	frame shift	probably null
R4578:Ercc5	UTSW	1	44,148,148 (GRCm38)	missense	probably benign	0.32
R4585:Ercc5	UTSW	1	44,158,857 (GRCm38)	missense	probably benign	0.36
R4586:Ercc5	UTSW	1	44,158,857 (GRCm38)	missense	probably benign	0.36
R4911:Ercc5	UTSW	1	44,166,871 (GRCm38)	missense	possibly damaging	0.66
R4912:Ercc5	UTSW	1	44,157,057 (GRCm38)	missense	probably damaging	1.00
R4942:Ercc5	UTSW	1	44,175,965 (GRCm38)	missense	probably benign	0.09
R5155:Ercc5	UTSW	1	44,180,622 (GRCm38)	missense	probably damaging	1.00
R5975:Ercc5	UTSW	1	44,173,406 (GRCm38)	missense	probably benign	0.04
R5991:Ercc5	UTSW	1	44,180,830 (GRCm38)	nonsense	probably null
R6161:Ercc5	UTSW	1	44,167,352 (GRCm38)	missense	probably benign	0.00
R6250:Ercc5	UTSW	1	44,164,049 (GRCm38)	missense	probably damaging	1.00
R7142:Ercc5	UTSW	1	44,174,214 (GRCm38)	missense	probably damaging	1.00
R7183:Ercc5	UTSW	1	44,161,809 (GRCm38)	critical splice acceptor site	probably null
R7183:Ercc5	UTSW	1	44,161,808 (GRCm38)	critical splice acceptor site	probably null
R7235:Ercc5	UTSW	1	44,178,203 (GRCm38)	missense	possibly damaging	0.68
R7349:Ercc5	UTSW	1	44,180,908 (GRCm38)	missense	possibly damaging	0.56
R7369:Ercc5	UTSW	1	44,180,860 (GRCm38)	missense	probably benign	0.39
R7486:Ercc5	UTSW	1	44,148,064 (GRCm38)	start codon destroyed	probably null	1.00
R7586:Ercc5	UTSW	1	44,175,851 (GRCm38)	missense	possibly damaging	0.49
R7904:Ercc5	UTSW	1	44,175,838 (GRCm38)	critical splice acceptor site	probably null
R7994:Ercc5	UTSW	1	44,178,334 (GRCm38)	missense	possibly damaging	0.94
R8432:Ercc5	UTSW	1	44,167,681 (GRCm38)	nonsense	probably null
R8795:Ercc5	UTSW	1	44,163,929 (GRCm38)	missense	possibly damaging	0.92
R9144:Ercc5	UTSW	1	44,174,351 (GRCm38)	missense	probably damaging	1.00
R9208:Ercc5	UTSW	1	44,178,343 (GRCm38)	missense	possibly damaging	0.51
R9295:Ercc5	UTSW	1	44,158,857 (GRCm38)	missense	probably damaging	1.00
R9516:Ercc5	UTSW	1	44,167,881 (GRCm38)	missense	probably damaging	1.00
X0011:Ercc5	UTSW	1	44,180,622 (GRCm38)	missense	probably damaging	1.00
X0062:Ercc5	UTSW	1	44,173,974 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGCCCTGGATGATGCAAAAG -3'
(R):5'- TTGTGTGCGGATAACAATATGG -3'

Sequencing Primer
(F):5'- CTGGATGATGCAAAAGGAAAAACCC -3'
(R):5'- AGCTACTAGTGGACACAC -3'

Posted On

2014-06-23