Mutagenetix > Incidental Mutation

Incidental Mutation 'R6000:Ercc1'

482113

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

044179-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6000 (G1)

Quality Score

128.008

Status

Validated

Chromosome

Chromosomal Location

19079016-19090449 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 19081086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135767 (fasta)

Gene Model

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

AlphaFold

P07903

Predicted Effect

probably benign
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

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

probably benign
Transcript: ENSMUST00000161378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162992

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208263

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

100% (64/64)

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
2310034C09Rik	T	C	16: 88,556,427 (GRCm39)	C214R	possibly damaging	Het
Ahnak	A	T	19: 8,990,475 (GRCm39)	K3920*	probably null	Het
Alox12b	A	G	11: 69,060,394 (GRCm39)	D650G	probably damaging	Het
Amt	A	T	9: 108,178,684 (GRCm39)	Y400F	probably benign	Het
Ankrd11	A	G	8: 123,617,934 (GRCm39)	S1973P	possibly damaging	Het
Aoc1	A	T	6: 48,884,573 (GRCm39)	T539S	probably benign	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 64,922,910 (GRCm39)		probably null	Het
Ccdc15	C	T	9: 37,227,060 (GRCm39)	G292S	probably benign	Het
Ccdc162	C	T	10: 41,437,159 (GRCm39)	C287Y	possibly damaging	Het
Ccn6	T	C	10: 39,034,296 (GRCm39)	Y102C	probably damaging	Het
Cdk15	G	A	1: 59,328,818 (GRCm39)	G244D	probably damaging	Het
Cep290	T	A	10: 100,377,649 (GRCm39)	Y1560N	probably damaging	Het
Cfap251	A	G	5: 123,392,435 (GRCm39)		probably benign	Het
Cic	A	C	7: 24,971,423 (GRCm39)	I385L	probably benign	Het
Cobl	A	T	11: 12,319,684 (GRCm39)	F231L	probably benign	Het
Cpeb1	T	C	7: 81,011,428 (GRCm39)	D171G	possibly damaging	Het
Csnk1g2	T	A	10: 80,474,778 (GRCm39)	V305E	probably damaging	Het
Cyp2c29	A	G	19: 39,296,050 (GRCm39)		probably null	Het
Dner	A	T	1: 84,361,650 (GRCm39)	M653K	possibly damaging	Het
Dst	T	A	1: 34,251,304 (GRCm39)	M4311K	possibly damaging	Het
Ep400	A	G	5: 110,831,067 (GRCm39)	S2200P	unknown	Het
Ephb2	A	T	4: 136,411,341 (GRCm39)	S440T	possibly damaging	Het
Folh1	T	A	7: 86,375,142 (GRCm39)	N615Y	probably benign	Het
Gm7298	T	C	6: 121,742,038 (GRCm39)	Y487H	possibly damaging	Het
Gucy1b2	A	T	14: 62,656,499 (GRCm39)	I286N	probably benign	Het
Hr	A	G	14: 70,805,273 (GRCm39)	D1005G	probably damaging	Het
Ifrd1	C	A	12: 40,266,243 (GRCm39)	V117F	possibly damaging	Het
Ift140	A	T	17: 25,255,934 (GRCm39)	T210S	probably benign	Het
Igll1	C	A	16: 16,681,805 (GRCm39)		probably benign	Het
Ino80	G	T	2: 119,204,989 (GRCm39)	S1512R	probably benign	Het
Intu	A	T	3: 40,608,578 (GRCm39)	K197*	probably null	Het
Kdm6b	A	G	11: 69,294,424 (GRCm39)	L1216P	unknown	Het
Klrb1c	T	G	6: 128,761,120 (GRCm39)	D169A	probably damaging	Het
Lamp3	T	A	16: 19,519,698 (GRCm39)	T162S	possibly damaging	Het
Mapk10	G	A	5: 103,114,342 (GRCm39)	P319S	probably damaging	Het
Mapk10	G	A	5: 103,114,341 (GRCm39)	P319L	probably damaging	Het
Mical3	T	C	6: 120,998,281 (GRCm39)	T702A	probably benign	Het
Mstn	C	T	1: 53,100,828 (GRCm39)		probably benign	Het
Nckap1l	T	C	15: 103,387,242 (GRCm39)	S706P	probably benign	Het
Nckap5l	G	A	15: 99,324,766 (GRCm39)	T579I	probably damaging	Het
Or13p3	A	T	4: 118,567,441 (GRCm39)	N279I	probably damaging	Het
Or4a27	C	A	2: 88,559,575 (GRCm39)	A123S	probably damaging	Het
Or8s16	G	A	15: 98,211,317 (GRCm39)	T38I	probably benign	Het
Pcdh18	A	C	3: 49,708,913 (GRCm39)	S801A	probably damaging	Het
Pde11a	A	T	2: 75,848,204 (GRCm39)	D874E	probably damaging	Het
Pfdn6	G	T	17: 34,158,589 (GRCm39)	P62T	probably damaging	Het
Pkd1l1	A	G	11: 8,900,427 (GRCm39)	I38T	probably benign	Het
Prkdc	A	T	16: 15,647,561 (GRCm39)	I3662F	possibly damaging	Het
Psg26	A	T	7: 18,216,617 (GRCm39)	L74*	probably null	Het
Rassf6	A	G	5: 90,751,736 (GRCm39)	V341A	probably damaging	Het
Rsad2	C	A	12: 26,497,150 (GRCm39)		probably null	Het
Rwdd3	A	G	3: 120,950,162 (GRCm39)	Y95H	probably damaging	Het
Scfd1	A	G	12: 51,492,457 (GRCm39)	I589V	possibly damaging	Het
Sgsm1	A	T	5: 113,434,704 (GRCm39)	I131N	probably damaging	Het
Tecpr1	A	G	5: 144,148,239 (GRCm39)	S389P	probably benign	Het
Tle3	T	A	9: 61,281,296 (GRCm39)	I29N	probably damaging	Het
Tmem63c	C	A	12: 87,103,971 (GRCm39)	N73K	probably damaging	Het
Tpm2	T	A	4: 43,518,301 (GRCm39)		probably null	Het
Trak2	A	T	1: 58,950,971 (GRCm39)	D405E	possibly damaging	Het
Ttn	C	A	2: 76,575,516 (GRCm39)	A23380S	probably damaging	Het
Ttn	A	T	2: 76,715,495 (GRCm39)		probably benign	Het
Tub	T	C	7: 108,628,857 (GRCm39)	S391P	probably damaging	Het
Ush2a	G	T	1: 187,999,223 (GRCm39)	E178*	probably null	Het
Vamp9	G	T	5: 100,089,226 (GRCm39)	A164S	probably benign	Het
Ylpm1	C	A	12: 85,044,030 (GRCm39)	T256K	unknown	Het
Zfp1007	A	G	5: 109,824,730 (GRCm39)	V240A	probably benign	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
R6415:Ercc1	UTSW	7	19,089,102 (GRCm39)	splice site	probably null
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'- CTCCTTGGCTCTGGATTTGACAT -3'
(R):5'- CTCATGACCTCTGGAAGAGC -3'

Sequencing Primer
(F):5'- CTTCCCAAGTGCTAGGATCAAAGG -3'
(R):5'- GCAGTCAGCGCTCTTAACCATTAAG -3'

Posted On

2017-06-27