Mutagenetix > Incidental Mutations

Incidental Mutation 'R7396:Ercc6'

573853

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R7396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32513521-32580990 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32569805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1042 (T1042I)

Ref Sequence

ENSEMBL: ENSMUSP00000066256 (fasta)

Gene Model

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

AlphaFold

F8VPZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000066807
AA Change: T1042I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000066256
Gene: ENSMUSG00000054051
AA Change: T1042I

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (79/79)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780		probably null	Het
Abcb5	A	G	12: 118,867,874	Y1248H	probably damaging	Het
Acacb	A	G	5: 114,213,661	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,773,829	L185H	probably damaging	Het
Actr1a	G	A	19: 46,379,629	T293I	probably benign	Het
Adig	T	C	2: 158,505,916	L50P	unknown	Het
Ankrd28	A	G	14: 31,702,202	S994P	probably benign	Het
Ankrd35	T	A	3: 96,683,497	D366E	probably damaging	Het
Aqr	A	T	2: 114,119,946	Y927*	probably null	Het
Asxl2	T	A	12: 3,442,529	I38N	probably damaging	Het
Atp9b	T	C	18: 80,736,842	I1092V		Het
B4galnt1	A	G	10: 127,171,616	E462G	possibly damaging	Het
BC048671	T	A	6: 90,303,291	V63E	probably damaging	Het
BC067074	T	A	13: 113,318,990	S523R		Het
Bod1l	A	G	5: 41,831,546	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,461,498	I234L	probably benign	Het
Camk2b	A	C	11: 5,978,432	S436A	probably benign	Het
Cc2d1a	A	T	8: 84,143,745		probably null	Het
Ces1b	G	T	8: 93,063,129	N390K	probably benign	Het
Chpf	T	C	1: 75,475,283	Q671R	probably benign	Het
Dbr1	C	A	9: 99,583,390	N340K	probably damaging	Het
Dram1	T	A	10: 88,340,645	T73S	probably benign	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Efemp1	A	T	11: 28,867,501	R39S	possibly damaging	Het
Eif2b5	T	G	16: 20,506,137	I515S	possibly damaging	Het
Eif2d	A	T	1: 131,166,374	N434I	probably benign	Het
Etl4	C	T	2: 20,798,638	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,449,023	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,688,886	D344G	probably benign	Het
Fgf15	G	T	7: 144,899,805	V172L	probably benign	Het
Fmod	T	C	1: 134,040,240	V6A	probably benign	Het
Furin	C	A	7: 80,398,114	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207	V297A	probably damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Helb	T	C	10: 120,089,571	D967G	probably benign	Het
Hmcn1	T	C	1: 150,563,631	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,233,419	P70Q	not run	Het
Hsd17b1	T	C	11: 101,079,207	V155A	probably damaging	Het
Ireb2	T	A	9: 54,882,333	M97K	possibly damaging	Het
Kcnj6	C	A	16: 94,762,447	L397F	probably benign	Het
Lcorl	A	T	5: 45,857,459		probably null	Het
Lgi2	A	T	5: 52,538,411	I402N	probably damaging	Het
Lrat	T	A	3: 82,903,283	R144*	probably null	Het
Mfhas1	G	T	8: 35,590,199	L609F	probably damaging	Het
Mink1	T	A	11: 70,605,168	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,808,415	D1821V	unknown	Het
Myh2	T	C	11: 67,194,728		probably null	Het
Ncor1	T	C	11: 62,343,218	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,566,603	V76M	probably damaging	Het
Neurod4	T	C	10: 130,271,022	T128A	probably damaging	Het
Ogfod1	T	A	8: 94,038,987	D59E	probably benign	Het
Olfr1369-ps1	T	C	13: 21,116,307	V205A	probably benign	Het
Olfr531	C	T	7: 140,400,563	R161H	probably benign	Het
Olfr667	C	T	7: 104,916,351	S315N	probably benign	Het
Pcdh15	T	A	10: 74,630,690	V1513D	probably benign	Het
Pclo	C	A	5: 14,539,888	T734K	unknown	Het
Phc2	A	G	4: 128,748,161	R759G	probably benign	Het
Plch1	A	T	3: 63,698,954	N1176K	probably benign	Het
Plec	T	A	15: 76,174,889	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,144,644	T426N	probably benign	Het
Rictor	A	G	15: 6,786,981	T1245A	not run	Het
Rilp	T	C	11: 75,510,886	V164A	probably damaging	Het
Rnf39	A	T	17: 36,947,079	T168S	probably damaging	Het
Rptor	C	G	11: 119,872,355	Q922E	probably benign	Het
Sall1	A	T	8: 89,032,768	L236Q	probably damaging	Het
Skint7	A	G	4: 111,988,127	T379A	probably benign	Het
Spata22	C	A	11: 73,345,876	T336N	probably damaging	Het
Spata31	T	C	13: 64,920,733	S232P	probably benign	Het
Spink5	T	A	18: 43,977,655	C98S	possibly damaging	Het
Stard6	T	C	18: 70,500,435	V171A	possibly damaging	Het
Tex9	A	T	9: 72,480,790		probably null	Het
Traf7	T	C	17: 24,509,545	D621G	probably damaging	Het
Trak1	C	T	9: 121,448,907	T353M	possibly damaging	Het
Trim68	A	T	7: 102,678,362	Y461*	probably null	Het
Usp1	A	G	4: 98,926,451		probably benign	Het
Vmn2r42	T	A	7: 8,192,642	I502F	probably benign	Het
Wbp4	C	A	14: 79,476,821	G84C	probably damaging	Het
Zfp787	A	G	7: 6,132,107	*382Q	probably null	Het
Zfp831	G	T	2: 174,645,209	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,366,089	A140P	probably benign	Het
Zscan4e	T	A	7: 11,307,075	Y290F	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
R1753:Ercc6	UTSW	14	32576999	missense	probably benign
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
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
Z1176:Ercc6	UTSW	14	32526487	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- GTTCACTCTGACCAGTCCTG -3'
(R):5'- CTGAGAGATGCTCCAGTGTG -3'

Sequencing Primer
(F):5'- TGACCAGTCCTGACGCCTC -3'
(R):5'- AGTGTGGACCCTGCATCTGTC -3'

Posted On

2019-09-13