Incidental Mutation 'IGL02351:Ercc6l2'
ID 289467
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 # IGL02351
Quality Score
Status
Chromosome 13
Chromosomal Location 63963054-64048116 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64001497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 552 (L552P)
Ref Sequence ENSEMBL: ENSMUSP00000069488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021925] [ENSMUST00000021926] [ENSMUST00000067821] [ENSMUST00000095724] [ENSMUST00000159957]
AlphaFold Q9JIM3
Predicted Effect probably damaging
Transcript: ENSMUST00000021925
AA Change: L528P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021925
Gene: ENSMUSG00000021470
AA Change: L528P

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 damaging
Transcript: ENSMUST00000021926
AA Change: L437P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021926
Gene: ENSMUSG00000021470
AA Change: L437P

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 damaging
Transcript: ENSMUST00000067821
AA Change: L552P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: L552P

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 damaging
Transcript: ENSMUST00000143449
AA Change: L552P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123573
Gene: ENSMUSG00000021470
AA Change: L552P

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,474,418 (GRCm39) T448A possibly damaging Het
Adamtsl1 T A 4: 86,075,110 (GRCm39) probably null Het
Adgra3 A G 5: 50,215,900 (GRCm39) V73A probably benign Het
Aggf1 T C 13: 95,489,358 (GRCm39) probably benign Het
Aktip C T 8: 91,853,520 (GRCm39) V96I possibly damaging Het
Atm A G 9: 53,433,476 (GRCm39) I258T probably benign Het
Baz1b C T 5: 135,273,160 (GRCm39) T1428I probably damaging Het
C3ar1 A T 6: 122,826,934 (GRCm39) Y428N probably damaging Het
Cadps A G 14: 12,597,380 (GRCm38) S437P probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cenpq A G 17: 41,235,223 (GRCm39) L213P probably damaging Het
Cept1 A G 3: 106,446,504 (GRCm39) probably null Het
Cln6 A G 9: 62,754,407 (GRCm39) I150V probably benign Het
Cyb5r3 T C 15: 83,045,136 (GRCm39) T94A probably benign Het
Cyp2c67 A G 19: 39,605,861 (GRCm39) M345T probably damaging Het
Dapk2 T A 9: 66,153,805 (GRCm39) I187N probably damaging Het
Dkk2 A G 3: 131,883,673 (GRCm39) D191G probably benign Het
Dnah8 T A 17: 30,986,785 (GRCm39) F3145I probably damaging Het
Dock1 A C 7: 134,710,548 (GRCm39) D1190A possibly damaging Het
Ehhadh T A 16: 21,581,620 (GRCm39) L457F probably damaging Het
Ghrhr T G 6: 55,361,138 (GRCm39) I284S probably damaging Het
Gm10288 A T 3: 146,544,954 (GRCm39) noncoding transcript Het
Gp6 T G 7: 4,397,507 (GRCm39) I19L probably benign Het
Gria4 G A 9: 4,456,206 (GRCm39) S698L possibly damaging Het
Ifng A T 10: 118,278,410 (GRCm39) I53F possibly damaging Het
Kazn A C 4: 141,874,327 (GRCm39) probably null Het
Khk A T 5: 31,085,848 (GRCm39) I136F probably damaging Het
Lnx1 T A 5: 74,788,027 (GRCm39) N98Y probably damaging Het
Lsp1 T C 7: 142,042,679 (GRCm39) probably null Het
Lta4h A T 10: 93,314,329 (GRCm39) N467I probably benign Het
Mcmbp C A 7: 128,311,505 (GRCm39) probably null Het
Me2 A T 18: 73,931,038 (GRCm39) I85K probably benign Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Nadsyn1 A T 7: 143,353,649 (GRCm39) Y525N probably damaging Het
Nt5e G A 9: 88,209,946 (GRCm39) V70M probably damaging Het
Or52e4 G A 7: 104,706,182 (GRCm39) G243D probably damaging Het
Or8b36 A T 9: 37,937,332 (GRCm39) I77L possibly damaging Het
Or9k7 T G 10: 130,046,603 (GRCm39) Y132S probably damaging Het
Pkd1l3 A G 8: 110,373,129 (GRCm39) probably benign Het
Ppm1d A T 11: 85,236,541 (GRCm39) E440V probably damaging Het
Pramel32 A T 4: 88,546,127 (GRCm39) I405N probably damaging Het
Ripor2 A T 13: 24,915,572 (GRCm39) E1047D probably damaging Het
Rwdd2b G A 16: 87,234,336 (GRCm39) A18V probably benign Het
Serpina5 G T 12: 104,068,384 (GRCm39) K148N probably damaging Het
Setx A G 2: 29,036,976 (GRCm39) K1154E probably benign Het
Skap1 T A 11: 96,599,382 (GRCm39) probably null Het
Spcs2 T C 7: 99,498,241 (GRCm39) K81R probably damaging Het
Stt3b T A 9: 115,079,975 (GRCm39) M646L possibly damaging Het
Suco T C 1: 161,646,195 (GRCm39) T1169A probably benign Het
Susd1 A T 4: 59,427,985 (GRCm39) Y66* probably null Het
Trim34a T A 7: 103,910,441 (GRCm39) C414* probably null Het
Trim58 G A 11: 58,542,176 (GRCm39) G379S probably damaging Het
Vmn2r50 T A 7: 9,787,002 (GRCm39) Q35L probably benign Het
Zfp418 T C 7: 7,177,690 (GRCm39) probably benign Het
Zfp57 G A 17: 37,320,919 (GRCm39) V258I probably benign Het
Zng1 A T 19: 24,909,026 (GRCm39) probably null 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
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
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