Mutagenetix > Incidental Mutation

Incidental Mutation 'R1753:Ercc6'

193778

Institutional Source

Beutler Lab

Gene Symbol

Ercc6

Ensembl Gene

ENSMUSG00000054051

Gene Name

excision repair cross-complementing rodent repair deficiency, complementation group 6

Synonyms

CS group B correcting gene, C130058G22Rik, CSB

MMRRC Submission

039785-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.490) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32513521-32580990 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32576999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1448 (V1448A)

Ref Sequence

ENSEMBL: ENSMUSP00000066256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066807]

AlphaFold

F8VPZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000066807
AA Change: V1448A

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

SMART Domains

Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: V1448A

Domain	Start	End	E-Value	Type
PDB:4CVO\|A	82	160	1e-36	PDB
low complexity region	286	299	N/A	INTRINSIC
low complexity region	361	390	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC
low complexity region	460	469	N/A	INTRINSIC
low complexity region	479	491	N/A	INTRINSIC
DEXDc	499	699	8.34e-33	SMART
Blast:DEXDc	720	821	7e-56	BLAST
HELICc	865	948	1.41e-21	SMART
low complexity region	1364	1377	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000228549

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice exhibit UV sensitivity, inactivation of transcription-coupled repair, increased incidence of induced skin and eye tumors, circling behavior, impaired coordination and lower body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,973,716	F409I	probably benign	Het
Adamts19	A	C	18: 59,007,372	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,899,352	S306G	probably damaging	Het
Adamts8	T	G	9: 30,954,614	I486S	probably benign	Het
Adgrg5	T	C	8: 94,942,052	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,577,135	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241		probably null	Het
Arhgap31	A	G	16: 38,601,612	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,094,833	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,302,354	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,866,561	E637K	probably benign	Het
Cd2	A	T	3: 101,287,499	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,764,688	Y157*	probably null	Het
Celsr3	G	T	9: 108,831,857	V1301F	probably damaging	Het
Cep164	C	T	9: 45,792,937	G961S	probably damaging	Het
Cep290	T	C	10: 100,513,981	V630A	probably benign	Het
Chd5	C	T	4: 152,378,815	S1451F	probably damaging	Het
Cldn23	A	C	8: 35,825,986	L116R	possibly damaging	Het
Cngb1	A	T	8: 95,297,773		probably benign	Het
Cpb1	G	T	3: 20,266,241	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,260,100	F261S	probably damaging	Het
Crlf3	A	C	11: 80,057,872	V249G	probably damaging	Het
Csmd1	A	T	8: 16,157,120	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,083,685	P207Q	possibly damaging	Het
Cym	A	C	3: 107,213,425	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,121,432		probably null	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Dnah7b	T	C	1: 46,322,335	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,873,342	M181L	possibly damaging	Het
Duox1	T	A	2: 122,333,429	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,192,940	S13T	probably benign	Het
Esp24	A	G	17: 39,040,002	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,701,461	M338K	probably benign	Het
Fgfbp1	A	C	5: 43,979,923	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,940,616	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,346,578	C372W	probably damaging	Het
Grn	T	G	11: 102,433,267	C61G	probably damaging	Het
Herc1	T	G	9: 66,469,010	C3371G	probably damaging	Het
Herc1	T	C	9: 66,502,084		probably null	Het
Hmcn1	C	T	1: 150,586,468	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,456,635	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,593,860	H399L	probably benign	Het
Irx3	G	A	8: 91,800,734	P114L	probably damaging	Het
Kat6a	T	A	8: 22,935,797	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,843,482		probably benign	Het
Kng1	A	T	16: 23,079,119	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,496,489	Q1746L	possibly damaging	Het
Lrrc29	A	T	8: 105,313,192	V517E	probably damaging	Het
Lrrc63	A	T	14: 75,086,344		probably null	Het
Mad2l1	T	A	6: 66,539,813	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,822,680	M978T	probably benign	Het
Mon1a	A	C	9: 107,901,363	N262T	probably damaging	Het
Mpo	A	G	11: 87,795,881	N85D	probably benign	Het
Mpp4	T	C	1: 59,144,810	D244G	probably null	Het
Mstn	A	G	1: 53,066,558	Y353C	probably damaging	Het
Mx1	T	A	16: 97,454,158	N232Y	probably damaging	Het
Mycs	T	C	X: 5,468,103	R308G	probably benign	Het
Myh11	A	T	16: 14,277,870	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,433,412	Q169L	probably null	Het
Nr5a1	G	T	2: 38,708,419	T122N	possibly damaging	Het
Nras	A	G	3: 103,058,979	T20A	probably damaging	Het
Obp2b	T	A	2: 25,738,640		probably null	Het
Olfr1109	T	C	2: 87,093,227	T57A	probably damaging	Het
Olfr1143	T	A	2: 87,802,762	F124L	probably benign	Het
Olfr1410	G	A	1: 92,608,400	V188M	probably benign	Het
Olfr365	A	G	2: 37,201,427	Y62C	probably damaging	Het
Olfr577	T	C	7: 102,973,056	N312S	probably benign	Het
Pcdh17	A	T	14: 84,477,654	T920S	probably benign	Het
Pcdh9	T	C	14: 93,887,225	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,436,671	T290I	probably damaging	Het
Pde6b	C	A	5: 108,388,691	C84*	probably null	Het
Pex1	A	T	5: 3,630,044	N914I	probably damaging	Het
Pign	A	G	1: 105,589,317	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,533,905	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,342,631	K489E	probably damaging	Het
Prob1	T	C	18: 35,653,252	T650A	possibly damaging	Het
Radil	T	C	5: 142,495,336	Y572C	probably damaging	Het
Rapgef2	A	G	3: 79,088,791	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,682,817		probably null	Het
Rnaset2b	G	A	17: 6,981,107		probably null	Het
S1pr1	A	G	3: 115,711,938	S336P	probably benign	Het
Slc24a5	A	G	2: 125,083,195	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,061,391	I184F	probably benign	Het
Slc35a3	A	G	3: 116,677,948	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,677,202	H211R	probably damaging	Het
Slu7	A	G	11: 43,439,268	N174S	probably benign	Het
Smarcd3	A	T	5: 24,595,822	Y131*	probably null	Het
Syne1	A	G	10: 5,367,621	M491T	probably benign	Het
Tars	G	A	15: 11,394,243	Q103*	probably null	Het
Tmem132d	C	A	5: 127,789,855	E660D	probably benign	Het
Ttn	T	C	2: 76,745,043	T16842A	probably damaging	Het
Ttn	T	A	2: 76,752,261	M22763L	probably benign	Het
Ttn	T	C	2: 76,812,972	E13201G	probably damaging	Het
Ubp1	A	T	9: 113,955,969	I117L	possibly damaging	Het
Usp24	T	A	4: 106,377,559	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,754,197	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,928,245	Q290*	probably null	Het
Vnn3	T	C	10: 23,865,820	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,305,744	T46A	probably damaging	Het
Wdr48	G	T	9: 119,924,247	E625*	probably null	Het
Wdr6	C	T	9: 108,575,164	V507I	probably damaging	Het
Zp2	A	T	7: 120,138,105	W287R	probably benign	Het

Other mutations in Ercc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ercc6	APN	14	32568072	missense	probably damaging	1.00
IGL00796:Ercc6	APN	14	32570002	missense	probably benign	0.01
IGL00916:Ercc6	APN	14	32562655	intron	probably benign
IGL01743:Ercc6	APN	14	32552604	missense	probably damaging	1.00
IGL01802:Ercc6	APN	14	32562574	missense	probably damaging	0.99
IGL01886:Ercc6	APN	14	32569580	missense	possibly damaging	0.90
IGL02100:Ercc6	APN	14	32517095	missense	probably benign	0.00
IGL02115:Ercc6	APN	14	32576993	missense	probably damaging	1.00
IGL02755:Ercc6	APN	14	32575748	splice site	probably benign
IGL02964:Ercc6	APN	14	32570103	missense	probably benign	0.00
IGL02998:Ercc6	APN	14	32557857	missense	probably benign	0.05
IGL03150:Ercc6	APN	14	32558574	missense	probably damaging	0.96
R0152:Ercc6	UTSW	14	32546905	critical splice donor site	probably benign
R0519:Ercc6	UTSW	14	32526842	missense	probably damaging	1.00
R0591:Ercc6	UTSW	14	32558016	splice site	probably benign
R0894:Ercc6	UTSW	14	32517028	missense	probably benign	0.05
R0946:Ercc6	UTSW	14	32552621	missense	probably benign	0.08
R1313:Ercc6	UTSW	14	32552720	splice site	probably benign
R1506:Ercc6	UTSW	14	32569864	missense	probably benign	0.01
R1528:Ercc6	UTSW	14	32519022	missense	probably damaging	0.98
R1711:Ercc6	UTSW	14	32526176	missense	probably damaging	1.00
R1795:Ercc6	UTSW	14	32517028	missense	probably benign	0.05
R1843:Ercc6	UTSW	14	32546820	missense	probably damaging	0.99
R1853:Ercc6	UTSW	14	32576816	missense	possibly damaging	0.86
R1859:Ercc6	UTSW	14	32526778	missense	probably damaging	1.00
R1912:Ercc6	UTSW	14	32576803	missense	probably damaging	1.00
R2308:Ercc6	UTSW	14	32566409	missense	possibly damaging	0.70
R2322:Ercc6	UTSW	14	32526317	missense	probably damaging	1.00
R2386:Ercc6	UTSW	14	32541359	splice site	probably null
R4170:Ercc6	UTSW	14	32566797	missense	probably damaging	1.00
R4369:Ercc6	UTSW	14	32517207	missense	probably damaging	0.96
R4389:Ercc6	UTSW	14	32574908	nonsense	probably null
R4747:Ercc6	UTSW	14	32569907	missense	probably benign	0.00
R4811:Ercc6	UTSW	14	32574929	missense	probably benign	0.20
R4840:Ercc6	UTSW	14	32541296	missense	probably damaging	1.00
R4973:Ercc6	UTSW	14	32574902	missense	probably damaging	1.00
R5068:Ercc6	UTSW	14	32570063	missense	probably benign	0.01
R5069:Ercc6	UTSW	14	32570063	missense	probably benign	0.01
R5070:Ercc6	UTSW	14	32570063	missense	probably benign	0.01
R5093:Ercc6	UTSW	14	32567522	missense	probably damaging	1.00
R5265:Ercc6	UTSW	14	32569623	missense	probably benign	0.01
R5272:Ercc6	UTSW	14	32519028	nonsense	probably null
R5499:Ercc6	UTSW	14	32516959	start codon destroyed	probably null	0.98
R5795:Ercc6	UTSW	14	32526352	missense	probably damaging	0.98
R6258:Ercc6	UTSW	14	32557856	missense	probably benign	0.00
R6260:Ercc6	UTSW	14	32557856	missense	probably benign	0.00
R6267:Ercc6	UTSW	14	32526403	nonsense	probably null
R6291:Ercc6	UTSW	14	32569986	missense	probably benign	0.01
R6296:Ercc6	UTSW	14	32526403	nonsense	probably null
R6361:Ercc6	UTSW	14	32517110	missense	probably benign	0.00
R6500:Ercc6	UTSW	14	32526823	missense	probably damaging	0.96
R6555:Ercc6	UTSW	14	32517107	missense	probably benign	0.15
R6724:Ercc6	UTSW	14	32566331	missense	probably benign	0.01
R6925:Ercc6	UTSW	14	32562608	missense	probably damaging	0.99
R7143:Ercc6	UTSW	14	32570305	missense	probably damaging	1.00
R7327:Ercc6	UTSW	14	32526404	missense	probably benign	0.19
R7396:Ercc6	UTSW	14	32569805	missense	probably benign	0.00
R7529:Ercc6	UTSW	14	32560729	nonsense	probably null
R7609:Ercc6	UTSW	14	32566361	missense	probably benign	0.11
R7802:Ercc6	UTSW	14	32517303	missense	probably damaging	1.00
R7854:Ercc6	UTSW	14	32566292	missense	probably damaging	1.00
R7995:Ercc6	UTSW	14	32562569	missense	probably damaging	0.99
R8181:Ercc6	UTSW	14	32557948	missense	probably damaging	1.00
R8320:Ercc6	UTSW	14	32521015	missense	probably benign	0.01
R8388:Ercc6	UTSW	14	32570340	utr 3 prime	probably benign
R8479:Ercc6	UTSW	14	32526406	missense	probably benign	0.00
R8831:Ercc6	UTSW	14	32560827	critical splice donor site	probably null
R8849:Ercc6	UTSW	14	32569608	missense	probably damaging	1.00
R8912:Ercc6	UTSW	14	32526254	missense	probably benign	0.40
R9210:Ercc6	UTSW	14	32569865	missense	probably benign	0.00
R9309:Ercc6	UTSW	14	32518947	missense	probably damaging	1.00
R9499:Ercc6	UTSW	14	32562568	missense	probably damaging	1.00
R9552:Ercc6	UTSW	14	32562568	missense	probably damaging	1.00
R9562:Ercc6	UTSW	14	32574967	missense	probably damaging	1.00
Z1176:Ercc6	UTSW	14	32526487	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- AACATCTTGCTGAGGCTGCTGC -3'
(R):5'- TGGGTCAGAAAACCCATGCTGTATC -3'

Sequencing Primer
(F):5'- CTGGTGGACATGAGGAACTT -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2014-05-23