Incidental Mutation 'IGL02175:Ercc6l2'
ID 283090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ercc6l2
Ensembl Gene ENSMUSG00000021470
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 6 like 2
Synonyms 0610007P08Rik, 9330134C04Rik, 1700019D06Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # IGL02175
Quality Score
Status
Chromosome 13
Chromosomal Location 63963054-64048116 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 64017004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067821] [ENSMUST00000095724] [ENSMUST00000159957]
AlphaFold Q9JIM3
Predicted Effect probably benign
Transcript: ENSMUST00000067821
SMART Domains Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470

DomainStartEndE-ValueType
DEXDc 118 331 1.94e-33 SMART
Blast:DEXDc 380 425 3e-13 BLAST
HELICc 536 619 3.12e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095724
SMART Domains Protein: ENSMUSP00000093392
Gene: ENSMUSG00000021470

DomainStartEndE-ValueType
DEXDc 1 183 2.72e-14 SMART
Blast:DEXDc 232 277 3e-13 BLAST
HELICc 388 471 3.12e-23 SMART
low complexity region 817 827 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109776
Predicted Effect probably benign
Transcript: ENSMUST00000159957
SMART Domains Protein: ENSMUSP00000124912
Gene: ENSMUSG00000021470

DomainStartEndE-ValueType
Pfam:SNF2_N 101 195 2.1e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,261,642 (GRCm39) probably null Het
Adgrf5 A G 17: 43,761,901 (GRCm39) I1199V probably damaging Het
Atm T A 9: 53,391,965 (GRCm39) H1808L probably damaging Het
Cadps C T 14: 12,467,092 (GRCm38) V942M probably damaging Het
Capns1 T C 7: 29,889,957 (GRCm39) D116G probably benign Het
Ccdc110 T G 8: 46,393,660 (GRCm39) M124R probably benign Het
Cdh23 T C 10: 60,167,087 (GRCm39) N1855S possibly damaging Het
Dstyk T A 1: 132,377,129 (GRCm39) L245* probably null Het
Dync2h1 A G 9: 7,111,548 (GRCm39) Y289H possibly damaging Het
Efcab6 G A 15: 83,780,301 (GRCm39) A1044V probably damaging Het
Egr1 T C 18: 34,996,108 (GRCm39) S297P probably benign Het
Frem2 C T 3: 53,563,020 (GRCm39) A496T possibly damaging Het
Hook2 T A 8: 85,718,031 (GRCm39) W53R probably damaging Het
Med19 T A 2: 84,509,007 (GRCm39) probably null Het
Mgrn1 A G 16: 4,738,232 (GRCm39) N262S probably benign Het
Nbas T G 12: 13,616,260 (GRCm39) probably null Het
Ndc80 A C 17: 71,818,414 (GRCm39) M314R probably benign Het
Nelfcd A T 2: 174,262,175 (GRCm39) T89S probably benign Het
Nlrp4a A T 7: 26,174,522 (GRCm39) E969D probably damaging Het
Ntrk3 A G 7: 77,896,976 (GRCm39) V687A probably damaging Het
Oc90 A C 15: 65,755,674 (GRCm39) S224R possibly damaging Het
Or4a69 T C 2: 89,312,626 (GRCm39) I284M possibly damaging Het
Plxnb1 C T 9: 108,929,914 (GRCm39) H257Y possibly damaging Het
Prpf3 A G 3: 95,741,419 (GRCm39) V579A probably damaging Het
Rarres1 T C 3: 67,403,089 (GRCm39) N104S probably benign Het
Serpina1d T C 12: 103,731,955 (GRCm39) probably null Het
Sik2 G A 9: 50,806,909 (GRCm39) Q834* probably null Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Snx13 T A 12: 35,182,061 (GRCm39) N703K possibly damaging Het
Spaca9 T C 2: 28,585,936 (GRCm39) I43V probably benign Het
Tor1aip2 T C 1: 155,940,752 (GRCm39) S353P probably damaging Het
Trmt1l T C 1: 151,324,235 (GRCm39) S361P probably benign Het
Trpm2 T C 10: 77,773,741 (GRCm39) H558R probably benign Het
Vmn1r75 T C 7: 11,614,774 (GRCm39) C127R probably damaging Het
Zfp879 A T 11: 50,728,743 (GRCm39) Y84N probably benign Het
Other mutations in Ercc6l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Ercc6l2 APN 13 64,006,133 (GRCm39) missense probably damaging 0.99
IGL00678:Ercc6l2 APN 13 63,992,427 (GRCm39) missense probably damaging 1.00
IGL00765:Ercc6l2 APN 13 63,996,586 (GRCm39) missense possibly damaging 0.95
IGL01062:Ercc6l2 APN 13 63,995,268 (GRCm39) missense probably null 1.00
IGL01655:Ercc6l2 APN 13 63,967,566 (GRCm39) nonsense probably null
IGL02201:Ercc6l2 APN 13 64,000,783 (GRCm39) missense probably benign 0.12
IGL02351:Ercc6l2 APN 13 64,001,497 (GRCm39) missense probably damaging 1.00
IGL02358:Ercc6l2 APN 13 64,001,497 (GRCm39) missense probably damaging 1.00
IGL02622:Ercc6l2 APN 13 64,001,437 (GRCm39) splice site probably null
PIT4812001:Ercc6l2 UTSW 13 64,006,071 (GRCm39) missense possibly damaging 0.58
R0142:Ercc6l2 UTSW 13 64,020,320 (GRCm39) unclassified probably benign
R0648:Ercc6l2 UTSW 13 63,992,459 (GRCm39) missense probably benign 0.04
R1136:Ercc6l2 UTSW 13 64,016,934 (GRCm39) missense possibly damaging 0.75
R1536:Ercc6l2 UTSW 13 63,972,685 (GRCm39) missense possibly damaging 0.81
R1706:Ercc6l2 UTSW 13 64,020,272 (GRCm39) unclassified probably benign
R2108:Ercc6l2 UTSW 13 64,019,802 (GRCm39) unclassified probably benign
R2111:Ercc6l2 UTSW 13 63,982,563 (GRCm39) missense probably damaging 1.00
R2126:Ercc6l2 UTSW 13 63,996,585 (GRCm39) missense probably damaging 1.00
R2154:Ercc6l2 UTSW 13 64,013,821 (GRCm39) missense probably damaging 1.00
R3551:Ercc6l2 UTSW 13 63,992,409 (GRCm39) missense probably damaging 1.00
R3773:Ercc6l2 UTSW 13 63,989,264 (GRCm39) missense probably damaging 1.00
R3923:Ercc6l2 UTSW 13 64,018,549 (GRCm39) unclassified probably benign
R4233:Ercc6l2 UTSW 13 64,019,982 (GRCm39) unclassified probably benign
R4782:Ercc6l2 UTSW 13 63,982,552 (GRCm39) missense probably damaging 1.00
R4928:Ercc6l2 UTSW 13 64,042,627 (GRCm39) utr 3 prime probably benign
R5163:Ercc6l2 UTSW 13 64,046,845 (GRCm39) utr 3 prime probably benign
R5268:Ercc6l2 UTSW 13 64,016,925 (GRCm39) missense possibly damaging 0.92
R5423:Ercc6l2 UTSW 13 64,020,072 (GRCm39) unclassified probably benign
R6128:Ercc6l2 UTSW 13 64,001,563 (GRCm39) missense probably damaging 0.98
R6164:Ercc6l2 UTSW 13 64,020,158 (GRCm39) unclassified probably benign
R7238:Ercc6l2 UTSW 13 64,013,798 (GRCm39) missense probably damaging 0.98
R7295:Ercc6l2 UTSW 13 63,967,589 (GRCm39) missense probably damaging 0.96
R7708:Ercc6l2 UTSW 13 63,989,328 (GRCm39) nonsense probably null
R8085:Ercc6l2 UTSW 13 63,992,367 (GRCm39) missense probably benign 0.00
R8131:Ercc6l2 UTSW 13 63,982,561 (GRCm39) missense probably damaging 1.00
R8259:Ercc6l2 UTSW 13 64,020,285 (GRCm39) missense
R8372:Ercc6l2 UTSW 13 64,001,563 (GRCm39) missense probably damaging 0.98
R8479:Ercc6l2 UTSW 13 63,972,629 (GRCm39) missense possibly damaging 0.95
R9034:Ercc6l2 UTSW 13 63,992,447 (GRCm39) missense probably damaging 0.97
R9065:Ercc6l2 UTSW 13 63,967,866 (GRCm39) missense possibly damaging 0.93
R9557:Ercc6l2 UTSW 13 63,989,936 (GRCm39) missense probably damaging 1.00
R9700:Ercc6l2 UTSW 13 63,967,525 (GRCm39) missense probably benign 0.32
R9763:Ercc6l2 UTSW 13 63,982,438 (GRCm39) missense probably damaging 1.00
RF013:Ercc6l2 UTSW 13 64,000,831 (GRCm39) missense probably benign 0.06
Z1088:Ercc6l2 UTSW 13 64,001,542 (GRCm39) missense possibly damaging 0.93
Posted On 2015-04-16