Incidental Mutation 'R4374:Ercc1'
ID 325027
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 041118-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4374 (G1)
Quality Score 142
Status Validated
Chromosome 7
Chromosomal Location 19079016-19090449 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 19081057 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000161378
AA Change: C52Y
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162992
Predicted Effect probably benign
Transcript: ENSMUST00000176818
SMART Domains Protein: ENSMUSP00000135767
Gene: ENSMUSG00000003549

DomainStartEndE-ValueType
Pfam:Rad10 23 90 8.4e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208263
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (38/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 A G 7: 78,973,278 (GRCm39) M86V probably benign Het
Acin1 C A 14: 54,891,351 (GRCm39) probably benign Het
Aebp2 T A 6: 140,599,984 (GRCm39) probably benign Het
Akap13 A G 7: 75,258,732 (GRCm39) E452G probably damaging Het
Amz1 T C 5: 140,738,194 (GRCm39) S184P possibly damaging Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Ccdc83 A T 7: 89,875,986 (GRCm39) L295* probably null Het
Cd209c T C 8: 4,004,635 (GRCm39) noncoding transcript Het
Cpsf7 A T 19: 10,517,001 (GRCm39) I368F probably damaging Het
Csf1r G A 18: 61,252,078 (GRCm39) C520Y probably damaging Het
Dapk1 A G 13: 60,867,498 (GRCm39) D235G probably benign Het
Fktn T C 4: 53,720,201 (GRCm39) S72P probably damaging Het
Frem2 C A 3: 53,452,923 (GRCm39) V2189F possibly damaging Het
Gm10845 G T 14: 80,100,563 (GRCm39) noncoding transcript Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lama1 A G 17: 68,111,513 (GRCm39) M2255V probably benign Het
Lrsam1 G T 2: 32,845,203 (GRCm39) T104K possibly damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Myo7a G A 7: 97,751,881 (GRCm39) T54M probably damaging Het
Or52ae7 T C 7: 103,119,278 (GRCm39) S11P probably damaging Het
Or5k15 A C 16: 58,710,242 (GRCm39) C114G probably benign Het
Osbpl8 T A 10: 111,105,280 (GRCm39) I245N possibly damaging Het
Pfkp A G 13: 6,671,025 (GRCm39) S135P probably damaging Het
Phf20l1 C T 15: 66,476,686 (GRCm39) T260I possibly damaging Het
Pole T A 5: 110,485,071 (GRCm39) I395K possibly damaging Het
Ppp6r2 T G 15: 89,149,361 (GRCm39) C216W probably damaging Het
Pramel7 C T 2: 87,320,415 (GRCm39) A293T probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Setbp1 T C 18: 78,903,137 (GRCm39) R177G probably damaging Het
Sh2b3 G T 5: 121,966,549 (GRCm39) probably benign Het
Tbc1d30 A G 10: 121,130,617 (GRCm39) F271S probably damaging Het
Tpo T C 12: 30,153,151 (GRCm39) E401G possibly damaging Het
Zdhhc13 T C 7: 48,458,589 (GRCm39) Y308H probably damaging Het
Zfp112 C T 7: 23,825,798 (GRCm39) H589Y probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P probably damaging Het
Other mutations in Ercc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCAAGCTTAGGTGTCAGGCAC -3'
(R):5'- AAGCCATCTCTTCAGCCCTG -3'

Sequencing Primer
(F):5'- CTTCCCAAGTGCTAGGATCAAAGG -3'
(R):5'- GCCCTGGCTCATATATTTAATGC -3'
Posted On 2015-07-06