Incidental Mutation 'IGL01062:Ercc6l2'
ID 52526
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 # IGL01062
Quality Score
Status
Chromosome 13
Chromosomal Location 63963054-64048116 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 63995268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 354 (Q354H)
Ref Sequence ENSEMBL: ENSMUSP00000021926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021925] [ENSMUST00000021926] [ENSMUST00000067821] [ENSMUST00000095724] [ENSMUST00000159957]
AlphaFold Q9JIM3
Predicted Effect probably null
Transcript: ENSMUST00000021925
AA Change: Q469H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470
AA Change: Q469H

DomainStartEndE-ValueType
DEXDc 118 331 1.94e-33 SMART
Blast:DEXDc 380 425 2e-13 BLAST
HELICc 512 589 6.96e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000021926
AA Change: Q354H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470
AA Change: Q354H

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
DEXDc 28 216 1.74e-12 SMART
Blast:DEXDc 265 310 1e-13 BLAST
Blast:DEXDc 317 450 4e-30 BLAST
SCOP:d1hv8a2 388 466 7e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000067821
AA Change: Q469H

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: Q469H

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 probably null
Transcript: ENSMUST00000143449
AA Change: Q469H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123573
Gene: ENSMUSG00000021470
AA Change: Q469H

DomainStartEndE-ValueType
DEXDc 118 331 1.94e-33 SMART
Blast:DEXDc 380 425 2e-13 BLAST
Blast:DEXDc 432 565 2e-29 BLAST
SCOP:d1hv8a2 503 581 2e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000146190
AA Change: Q454H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000159957
SMART Domains Protein: ENSMUSP00000124912
Gene: ENSMUSG00000021470

DomainStartEndE-ValueType
Pfam:SNF2_N 101 195 2.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222855
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Amer3 A G 1: 34,625,820 (GRCm39) K20E probably damaging Het
Arhgap31 A G 16: 38,421,818 (GRCm39) L1416P probably damaging Het
Avpr1a G A 10: 122,285,434 (GRCm39) C242Y probably damaging Het
Bclaf3 T C X: 158,336,415 (GRCm39) Y281H probably benign Het
Cdc14a T A 3: 116,068,361 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cntn4 T C 6: 106,595,239 (GRCm39) probably benign Het
Cyp3a44 T A 5: 145,731,149 (GRCm39) D217V possibly damaging Het
Eprs1 A G 1: 185,111,812 (GRCm39) E274G probably benign Het
Glb1l A T 1: 75,177,882 (GRCm39) I392N probably damaging Het
Gm3173 T C 14: 15,728,472 (GRCm39) probably null Het
Hadh C T 3: 131,034,640 (GRCm39) V219M probably damaging Het
Hspb9 A G 11: 100,604,761 (GRCm39) H29R possibly damaging Het
Iqgap3 G T 3: 88,017,429 (GRCm39) V240L probably benign Het
Jmjd1c T C 10: 67,062,494 (GRCm39) S1616P probably damaging Het
Knl1 A G 2: 118,907,461 (GRCm39) I1662V probably benign Het
Maco1 A T 4: 134,560,608 (GRCm39) V125E probably damaging Het
Mapre3 A G 5: 31,022,240 (GRCm39) I236V probably benign Het
Med17 T C 9: 15,190,917 (GRCm39) E58G probably benign Het
Myh6 T C 14: 55,189,749 (GRCm39) E1099G probably damaging Het
Myt1 T A 2: 181,439,522 (GRCm39) V348D probably damaging Het
Nat10 A T 2: 103,573,393 (GRCm39) I368N probably damaging Het
Nol6 T C 4: 41,118,205 (GRCm39) I811V probably benign Het
Oas1d C A 5: 121,057,127 (GRCm39) Y244* probably null Het
Or6e1 A T 14: 54,520,181 (GRCm39) M57K probably damaging Het
Osbpl1a A G 18: 13,038,132 (GRCm39) V273A probably benign Het
Pigw T C 11: 84,768,769 (GRCm39) R187G probably benign Het
Plekhg5 G A 4: 152,192,953 (GRCm39) D603N probably damaging Het
Ptprk T C 10: 28,456,414 (GRCm39) V1058A probably damaging Het
Robo4 G A 9: 37,317,296 (GRCm39) S537N probably benign Het
Rptn T A 3: 93,304,489 (GRCm39) F607L probably benign Het
Sall1 A G 8: 89,759,972 (GRCm39) V44A probably damaging Het
Sh3bp4 C A 1: 89,071,682 (GRCm39) Q177K probably benign Het
Skic3 T A 13: 76,303,581 (GRCm39) L1225* probably null Het
Spmip6 T A 4: 41,511,433 (GRCm39) E93D probably damaging Het
Srrt C A 5: 137,294,569 (GRCm39) G779V probably damaging Het
Tamalin A G 15: 101,126,777 (GRCm39) probably benign Het
Tex21 T C 12: 76,245,718 (GRCm39) D526G probably benign Het
Vmn1r10 A G 6: 57,090,821 (GRCm39) S138G possibly damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfp454 T C 11: 50,765,033 (GRCm39) E22G probably benign Het
Zzef1 T A 11: 72,765,795 (GRCm39) C1441S 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
IGL01655:Ercc6l2 APN 13 63,967,566 (GRCm39) nonsense probably null
IGL02175:Ercc6l2 APN 13 64,017,004 (GRCm39) utr 3 prime probably benign
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 2013-06-21