Incidental Mutation 'IGL01062:Ercc6l2'
ID52526
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ercc6l2
Ensembl Gene ENSMUSG00000021470
Gene Nameexcision repair cross-complementing rodent repair deficiency, complementation group 6 like 2
Synonyms0610007P08Rik, 1700019D06Rik, 9330134C04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #IGL01062
Quality Score
Status
Chromosome13
Chromosomal Location63815240-63900302 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 63847454 bp
ZygosityHeterozygous
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]
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
1110017D15Rik T A 4: 41,511,433 E93D probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Amer3 A G 1: 34,586,739 K20E probably damaging Het
Arhgap31 A G 16: 38,601,456 L1416P probably damaging Het
Avpr1a G A 10: 122,449,529 C242Y probably damaging Het
Bclaf3 T C X: 159,553,419 Y281H probably benign Het
Cdc14a T A 3: 116,274,712 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cntn4 T C 6: 106,618,278 probably benign Het
Cyp3a44 T A 5: 145,794,339 D217V possibly damaging Het
Eprs A G 1: 185,379,615 E274G probably benign Het
Glb1l A T 1: 75,201,238 I392N probably damaging Het
Gm3173 T C 14: 4,514,887 probably null Het
Grasp A G 15: 101,228,896 probably benign Het
Hadh C T 3: 131,240,991 V219M probably damaging Het
Hspb9 A G 11: 100,713,935 H29R possibly damaging Het
Iqgap3 G T 3: 88,110,122 V240L probably benign Het
Jmjd1c T C 10: 67,226,715 S1616P probably damaging Het
Knl1 A G 2: 119,076,980 I1662V probably benign Het
Mapre3 A G 5: 30,864,896 I236V probably benign Het
Med17 T C 9: 15,279,621 E58G probably benign Het
Myh6 T C 14: 54,952,292 E1099G probably damaging Het
Myt1 T A 2: 181,797,729 V348D probably damaging Het
Nat10 A T 2: 103,743,048 I368N probably damaging Het
Nol6 T C 4: 41,118,205 I811V probably benign Het
Oas1d C A 5: 120,919,064 Y244* probably null Het
Olfr49 A T 14: 54,282,724 M57K probably damaging Het
Osbpl1a A G 18: 12,905,075 V273A probably benign Het
Pigw T C 11: 84,877,943 R187G probably benign Het
Plekhg5 G A 4: 152,108,496 D603N probably damaging Het
Ptprk T C 10: 28,580,418 V1058A probably damaging Het
Robo4 G A 9: 37,406,000 S537N probably benign Het
Rptn T A 3: 93,397,182 F607L probably benign Het
Sall1 A G 8: 89,033,344 V44A probably damaging Het
Sh3bp4 C A 1: 89,143,960 Q177K probably benign Het
Srrt C A 5: 137,296,307 G779V probably damaging Het
Tex21 T C 12: 76,198,944 D526G probably benign Het
Tmem57 A T 4: 134,833,297 V125E probably damaging Het
Ttc37 T A 13: 76,155,462 L1225* probably null Het
Vmn1r10 A G 6: 57,113,836 S138G possibly damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfp454 T C 11: 50,874,206 E22G probably benign Het
Zzef1 T A 11: 72,874,969 C1441S probably benign Het
Other mutations in Ercc6l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Ercc6l2 APN 13 63858319 missense probably damaging 0.99
IGL00678:Ercc6l2 APN 13 63844613 missense probably damaging 1.00
IGL00765:Ercc6l2 APN 13 63848772 missense possibly damaging 0.95
IGL01655:Ercc6l2 APN 13 63819752 nonsense probably null
IGL02175:Ercc6l2 APN 13 63869190 utr 3 prime probably benign
IGL02201:Ercc6l2 APN 13 63852969 missense probably benign 0.12
IGL02351:Ercc6l2 APN 13 63853683 missense probably damaging 1.00
IGL02358:Ercc6l2 APN 13 63853683 missense probably damaging 1.00
IGL02622:Ercc6l2 APN 13 63853623 splice site probably null
PIT4812001:Ercc6l2 UTSW 13 63858257 missense possibly damaging 0.58
R0142:Ercc6l2 UTSW 13 63872506 unclassified probably benign
R0648:Ercc6l2 UTSW 13 63844645 missense probably benign 0.04
R1136:Ercc6l2 UTSW 13 63869120 missense possibly damaging 0.75
R1536:Ercc6l2 UTSW 13 63824871 missense possibly damaging 0.81
R1706:Ercc6l2 UTSW 13 63872458 unclassified probably benign
R2108:Ercc6l2 UTSW 13 63871988 unclassified probably benign
R2111:Ercc6l2 UTSW 13 63834749 missense probably damaging 1.00
R2126:Ercc6l2 UTSW 13 63848771 missense probably damaging 1.00
R2154:Ercc6l2 UTSW 13 63866007 missense probably damaging 1.00
R3551:Ercc6l2 UTSW 13 63844595 missense probably damaging 1.00
R3773:Ercc6l2 UTSW 13 63841450 missense probably damaging 1.00
R3923:Ercc6l2 UTSW 13 63870735 unclassified probably benign
R4233:Ercc6l2 UTSW 13 63872168 unclassified probably benign
R4782:Ercc6l2 UTSW 13 63834738 missense probably damaging 1.00
R4928:Ercc6l2 UTSW 13 63894813 utr 3 prime probably benign
R5163:Ercc6l2 UTSW 13 63899031 utr 3 prime probably benign
R5268:Ercc6l2 UTSW 13 63869111 missense possibly damaging 0.92
R5423:Ercc6l2 UTSW 13 63872258 unclassified probably benign
R6128:Ercc6l2 UTSW 13 63853749 missense probably damaging 0.98
R6164:Ercc6l2 UTSW 13 63872344 unclassified probably benign
R7238:Ercc6l2 UTSW 13 63865984 missense probably damaging 0.98
R7295:Ercc6l2 UTSW 13 63819775 missense probably damaging 0.96
R7708:Ercc6l2 UTSW 13 63841514 nonsense probably null
R8085:Ercc6l2 UTSW 13 63844553 missense probably benign 0.00
R8131:Ercc6l2 UTSW 13 63834747 missense probably damaging 1.00
R8259:Ercc6l2 UTSW 13 63872471 missense
R8372:Ercc6l2 UTSW 13 63853749 missense probably damaging 0.98
R8479:Ercc6l2 UTSW 13 63824815 missense possibly damaging 0.95
RF013:Ercc6l2 UTSW 13 63853017 missense probably benign 0.06
Z1088:Ercc6l2 UTSW 13 63853728 missense possibly damaging 0.93
Posted On2013-06-21