Incidental Mutation 'IGL02622:Ercc6l2'
ID300927
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: 0.204) question?
Stock #IGL02622
Quality Score
Status
Chromosome13
Chromosomal Location63815240-63900302 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 63853623 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021925] [ENSMUST00000021926] [ENSMUST00000067821] [ENSMUST00000095724] [ENSMUST00000159957]
Predicted Effect probably null
Transcript: ENSMUST00000021925
SMART Domains Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470

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
SMART Domains Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470

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
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 probably null
Transcript: ENSMUST00000143449
SMART Domains Protein: ENSMUSP00000123573
Gene: ENSMUSG00000021470

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik C T 5: 109,739,235 V32M possibly damaging Het
Abca1 T C 4: 53,034,046 D2228G probably damaging Het
Actr5 A G 2: 158,638,808 K582R probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Atp7b T C 8: 22,028,438 D128G possibly damaging Het
Cemip C A 7: 83,964,175 G605V probably damaging Het
Cep112 A G 11: 108,518,683 H133R probably benign Het
Cops3 C T 11: 59,833,038 D98N probably benign Het
Crlf3 T C 11: 80,059,324 D160G probably damaging Het
Csn1s1 T C 5: 87,677,642 probably null Het
Ddx60 C A 8: 61,942,436 probably null Het
Depdc1a T A 3: 159,515,510 N159K probably benign Het
Dsg3 A T 18: 20,528,947 probably benign Het
Eif4g3 A C 4: 138,097,366 probably benign Het
Fbxw19 T A 9: 109,493,534 M123L probably benign Het
Fus T A 7: 127,985,622 L100H probably damaging Het
Gm29247 A G 1: 44,107,109 probably benign Het
Gucy2e T C 11: 69,225,031 T842A probably damaging Het
Inpp4a A T 1: 37,379,034 Q519L probably benign Het
Kcnip1 C A 11: 33,643,290 probably benign Het
Lyst T A 13: 13,681,390 L2432H probably damaging Het
Mastl A G 2: 23,132,845 V622A probably benign Het
Myh15 A G 16: 49,176,954 T1712A probably benign Het
Nlrp1a T C 11: 71,123,000 T475A possibly damaging Het
Nr4a3 G A 4: 48,051,649 M134I probably benign Het
Olfr444 T G 6: 42,955,729 V77G probably damaging Het
Olfr484 T A 7: 108,124,388 I292F probably damaging Het
Olfr554 T A 7: 102,641,083 L279Q probably damaging Het
Paqr6 T G 3: 88,365,778 I52S probably damaging Het
Pcdhb4 T A 18: 37,309,668 L677Q probably benign Het
Phax C T 18: 56,584,300 R250* probably null Het
Pkn3 A G 2: 30,083,146 D356G probably benign Het
Pnpla2 T C 7: 141,455,372 L29P probably damaging Het
Rad18 G A 6: 112,687,987 T62I probably damaging Het
Riok3 C T 18: 12,142,960 R238C probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sccpdh G T 1: 179,676,460 G125W probably damaging Het
Skint11 T A 4: 114,194,728 L91H probably damaging Het
Slc25a45 A G 19: 5,878,697 probably benign Het
Slco2a1 C T 9: 103,076,929 Q370* probably null Het
Szt2 A G 4: 118,392,890 S474P probably damaging Het
Tchh C A 3: 93,443,412 T53K probably damaging Het
Tiam1 T C 16: 89,798,700 T1298A possibly damaging Het
Tmem161a C T 8: 70,181,237 Q183* probably null Het
Trim26 C A 17: 36,850,905 A72E probably damaging Het
Trmt11 A T 10: 30,559,173 I330K probably benign Het
Tspan1 A G 4: 116,163,855 probably benign Het
Ubr4 C A 4: 139,467,250 C4286* probably null Het
Unc13a T C 8: 71,652,514 probably null Het
Vmn1r20 T A 6: 57,432,598 F303Y probably damaging Het
Washc2 T C 6: 116,214,018 probably benign Het
Xab2 C T 8: 3,611,699 D585N probably benign Het
Ythdc2 C T 18: 44,859,934 L791F probably damaging Het
Zfp319 C A 8: 95,328,961 V205F probably damaging Het
Zscan25 A T 5: 145,290,702 H392L probably damaging Het
Zswim6 A T 13: 107,748,251 noncoding transcript 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
IGL01062:Ercc6l2 APN 13 63847454 missense probably null 1.00
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
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
RF013:Ercc6l2 UTSW 13 63853017 missense probably benign 0.06
Z1088:Ercc6l2 UTSW 13 63853728 missense possibly damaging 0.93
Posted On2015-04-16