Incidental Mutation 'IGL00765:Ercc6l2'
ID 8407
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 # IGL00765
Quality Score
Status
Chromosome 13
Chromosomal Location 63963054-64048116 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63996586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 365 (V365A)
Ref Sequence ENSEMBL: ENSMUSP00000021926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021925] [ENSMUST00000021926] [ENSMUST00000067821] [ENSMUST00000095724] [ENSMUST00000159957]
AlphaFold Q9JIM3
Predicted Effect possibly damaging
Transcript: ENSMUST00000021925
AA Change: V480A

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470
AA Change: V480A

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 possibly damaging
Transcript: ENSMUST00000021926
AA Change: V365A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470
AA Change: V365A

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 benign
Transcript: ENSMUST00000067821
AA Change: V480A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: V480A

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 possibly damaging
Transcript: ENSMUST00000143449
AA Change: V480A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123573
Gene: ENSMUSG00000021470
AA Change: V480A

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
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 C T 16: 14,229,372 (GRCm39) T368I probably damaging Het
Bub1 T A 2: 127,671,392 (GRCm39) N64I probably damaging Het
Ccdc97 A G 7: 25,414,277 (GRCm39) L159P probably damaging Het
Chrnd T C 1: 87,123,431 (GRCm39) V214A probably damaging Het
Csf2rb2 A G 15: 78,176,916 (GRCm39) S185P probably benign Het
Dmxl2 A G 9: 54,322,706 (GRCm39) probably benign Het
Eif3e A T 15: 43,141,745 (GRCm39) M55K probably benign Het
Fndc1 A G 17: 7,991,525 (GRCm39) S724P unknown Het
Htt T C 5: 35,034,769 (GRCm39) probably benign Het
Ints4 C T 7: 97,184,412 (GRCm39) T839I probably damaging Het
Lrp6 T G 6: 134,518,817 (GRCm39) T83P probably benign Het
Lrrc8d C T 5: 105,959,818 (GRCm39) T76I possibly damaging Het
Nae1 T C 8: 105,244,582 (GRCm39) probably benign Het
Nlrp14 T C 7: 106,789,346 (GRCm39) V45A possibly damaging Het
Nrp2 C A 1: 62,743,410 (GRCm39) S16* probably null Het
Nup155 T C 15: 8,182,712 (GRCm39) I1225T probably benign Het
Pnpla7 G T 2: 24,870,236 (GRCm39) A43S probably damaging Het
Prcp T C 7: 92,582,307 (GRCm39) S431P probably benign Het
Rbck1 A G 2: 152,172,874 (GRCm39) probably benign Het
Smg8 T C 11: 86,968,867 (GRCm39) E963G probably damaging Het
Tanc1 A C 2: 59,636,645 (GRCm39) M836L probably benign Het
Tnpo1 A G 13: 98,986,612 (GRCm39) 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
IGL01062:Ercc6l2 APN 13 63,995,268 (GRCm39) missense probably null 1.00
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 2012-12-06