Mutagenetix > Incidental Mutation

Incidental Mutation 'R6415:Ercc1'

517861

Institutional Source

Beutler Lab

Gene Symbol

Ercc1

Ensembl Gene

ENSMUSG00000003549

Gene Name

excision repair cross-complementing rodent repair deficiency, complementation group 1

Synonyms

Ercc-1

MMRRC Submission

044557-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6415 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19079016-19090449 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 19089102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003645] [ENSMUST00000047036] [ENSMUST00000140836] [ENSMUST00000160369] [ENSMUST00000161378] [ENSMUST00000176818]

AlphaFold

P07903

Predicted Effect

probably null
Transcript: ENSMUST00000003645

SMART Domains

Protein: ENSMUSP00000003645
Gene: ENSMUSG00000003549

Domain	Start	End	E-Value	Type
low complexity region	68	79	N/A	INTRINSIC
Pfam:Rad10	100	213	2.9e-55	PFAM
HhH1	269	288	4.04e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047036

SMART Domains

Protein: ENSMUSP00000044653
Gene: ENSMUSG00000047649

Domain	Start	End	E-Value	Type
Pfam:RNA_polI_A34	37	397	7.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140836

SMART Domains

Protein: ENSMUSP00000114443
Gene: ENSMUSG00000040734

Domain	Start	End	E-Value	Type
coiled coil region	25	49	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160192

Predicted Effect

probably benign
Transcript: ENSMUST00000160369

SMART Domains

Protein: ENSMUSP00000125655
Gene: ENSMUSG00000003549

Domain	Start	End	E-Value	Type
low complexity region	68	79	N/A	INTRINSIC
Pfam:Rad10	99	166	1.6e-34	PFAM
low complexity region	232	245	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162992

Predicted Effect

probably benign
Transcript: ENSMUST00000161378

Predicted Effect

probably benign
Transcript: ENSMUST00000177486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162197

Predicted Effect

probably benign
Transcript: ENSMUST00000176818

SMART Domains

Protein: ENSMUSP00000135767
Gene: ENSMUSG00000003549

Domain	Start	End	E-Value	Type
Pfam:Rad10	23	90	8.4e-35	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
PHENOTYPE: Nullizygous mutations result in growth and liver failure, nuclear anomalies and postnatal death, and may lead to spleen hypoplasia, altered isotype switching, B cell hypoproliferation, dystonia, ataxia, renal failure, sarcopenia, kyphosis, early replicative aging and sensitivity to oxidative stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,881,296 (GRCm39)	T482M	probably benign	Het
Adam9	A	G	8: 25,468,498 (GRCm39)	Y513H	probably damaging	Het
Adamts20	C	T	15: 94,222,540 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,588,759 (GRCm39)	D326G	probably damaging	Het
Cacna1g	A	G	11: 94,354,243 (GRCm39)	I224T	probably damaging	Het
Ccdc18	A	G	5: 108,309,612 (GRCm39)	I402M	probably benign	Het
Cckar	A	T	5: 53,860,398 (GRCm39)	C73S	probably damaging	Het
Cdk13	C	T	13: 17,913,739 (GRCm39)	R880H	probably damaging	Het
Col1a1	A	G	11: 94,830,986 (GRCm39)	N218D	unknown	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp2c69	A	G	19: 39,831,365 (GRCm39)	F483L	probably benign	Het
Ddx60	A	G	8: 62,436,939 (GRCm39)	D963G	probably benign	Het
Dhx8	G	T	11: 101,628,513 (GRCm39)	A142S	unknown	Het
Dock7	C	T	4: 98,880,685 (GRCm39)	R926Q	probably damaging	Het
Dscaml1	C	T	9: 45,594,975 (GRCm39)	Q693*	probably null	Het
Dysf	G	A	6: 84,117,024 (GRCm39)	C1234Y	probably damaging	Het
Fam91a1	T	C	15: 58,314,766 (GRCm39)	L549P	probably damaging	Het
Fxyd2	T	A	9: 45,314,592 (GRCm39)	Y5N	possibly damaging	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Gpr182	T	A	10: 127,586,375 (GRCm39)	D192V	possibly damaging	Het
Gps1	T	C	11: 120,678,548 (GRCm39)	V286A	possibly damaging	Het
Grk1	A	G	8: 13,463,127 (GRCm39)	Y383C	probably damaging	Het
H2bc15	T	C	13: 21,938,656 (GRCm39)	Y122H	probably benign	Het
Hic1	G	A	11: 75,057,143 (GRCm39)	P582L	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Khdc4	T	C	3: 88,607,279 (GRCm39)	F328L	probably benign	Het
Lactb	T	C	9: 66,877,927 (GRCm39)	K301E	possibly damaging	Het
Lrp3	A	T	7: 34,903,593 (GRCm39)	V251E	probably benign	Het
Mapt	G	A	11: 104,189,824 (GRCm39)	G265S	probably benign	Het
Obscn	A	T	11: 58,925,956 (GRCm39)	D6245E	probably damaging	Het
Or10al2	G	T	17: 37,983,448 (GRCm39)	C178F	possibly damaging	Het
Or1j12	A	G	2: 36,342,617 (GRCm39)	S7G	probably damaging	Het
Or4b1c	T	A	2: 90,126,381 (GRCm39)	I275F	probably damaging	Het
Or4c10b	T	C	2: 89,711,206 (GRCm39)	L12P	probably damaging	Het
Or6c207	T	C	10: 129,104,890 (GRCm39)	T101A	probably benign	Het
Or7e165	T	A	9: 19,695,044 (GRCm39)	I205N	probably damaging	Het
Or7g19	T	C	9: 18,856,415 (GRCm39)	L157P	probably damaging	Het
Oxsm	A	T	14: 16,241,904 (GRCm38)	H288Q	probably benign	Het
Pcdh9	C	T	14: 93,253,278 (GRCm39)	M1128I	possibly damaging	Het
Pcdha8	T	C	18: 37,127,614 (GRCm39)	Y699H	probably damaging	Het
Pgk2	A	T	17: 40,518,459 (GRCm39)	I323N	probably benign	Het
Plin4	A	G	17: 56,410,264 (GRCm39)	V1216A	probably damaging	Het
Ppargc1a	T	C	5: 51,620,176 (GRCm39)		probably benign	Het
Prelp	A	T	1: 133,840,516 (GRCm39)	I322N	probably benign	Het
Prelp	A	T	1: 133,842,395 (GRCm39)	I250N	probably damaging	Het
Prss27	T	A	17: 24,261,882 (GRCm39)	C63*	probably null	Het
Rab38	G	A	7: 88,079,748 (GRCm39)	A47T	possibly damaging	Het
Rprd2	G	A	3: 95,681,531 (GRCm39)	A436V	probably benign	Het
Sacs	A	T	14: 61,442,808 (GRCm39)	N1618I	probably damaging	Het
Scp2	T	G	4: 107,962,337 (GRCm39)	S63R	probably benign	Het
Sftpb	T	G	6: 72,281,633 (GRCm39)	W9G	probably damaging	Het
Slco1a4	A	T	6: 141,780,415 (GRCm39)	L125*	probably null	Het
Sptlc1	T	C	13: 53,505,728 (GRCm39)		probably null	Het
Sub1	T	A	15: 11,986,560 (GRCm39)	M96L	probably benign	Het
Tanc1	T	C	2: 59,667,458 (GRCm39)	V1233A	probably benign	Het
Tmem140	A	T	6: 34,849,658 (GRCm39)	D58V	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,083,811 (GRCm39)	Y91H	probably benign	Het
Trap1	C	T	16: 3,861,856 (GRCm39)	R636H	possibly damaging	Het
Ttc14	A	G	3: 33,857,724 (GRCm39)	H275R	possibly damaging	Het
Tut7	T	A	13: 59,964,110 (GRCm39)		probably null	Het
Vps35l	T	C	7: 118,391,869 (GRCm39)	W494R	probably damaging	Het
Ypel1	A	G	16: 16,921,438 (GRCm39)		probably null	Het
Zbtb44	T	A	9: 30,975,510 (GRCm39)	I380N	possibly damaging	Het
Zswim5	T	C	4: 116,838,063 (GRCm39)	F798L	possibly damaging	Het

Other mutations in Ercc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02929:Ercc1	APN	7	19,089,288 (GRCm39)	critical splice donor site	probably null
joyless	UTSW	7	19,089,102 (GRCm39)	splice site	probably null
R2062:Ercc1	UTSW	7	19,088,295 (GRCm39)	makesense	probably null
R4373:Ercc1	UTSW	7	19,081,057 (GRCm39)	unclassified	probably benign
R4374:Ercc1	UTSW	7	19,081,057 (GRCm39)	unclassified	probably benign
R4375:Ercc1	UTSW	7	19,081,057 (GRCm39)	unclassified	probably benign
R4852:Ercc1	UTSW	7	19,084,629 (GRCm39)	missense	probably damaging	1.00
R6000:Ercc1	UTSW	7	19,081,086 (GRCm39)	unclassified	probably benign
R8113:Ercc1	UTSW	7	19,084,102 (GRCm39)	missense	probably damaging	1.00
R8369:Ercc1	UTSW	7	19,088,377 (GRCm39)	nonsense	probably null
R8557:Ercc1	UTSW	7	19,082,480 (GRCm39)	missense	probably benign	0.00
R8923:Ercc1	UTSW	7	19,081,062 (GRCm39)	unclassified	probably benign
R9566:Ercc1	UTSW	7	19,088,377 (GRCm39)	nonsense	probably null
X0057:Ercc1	UTSW	7	19,090,374 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTTCGGCAGTAAAGAGGGAC -3'
(R):5'- AAAATTCTTACCTTCTGTGGGCCC -3'

Sequencing Primer
(F):5'- GTTTCTGAAGACAGTATCTCCCCAGG -3'
(R):5'- CAGGCCCGGGCATAAGG -3'

Posted On

2018-05-24