Incidental Mutation 'R2154:Ercc6l2'
ID 234651
Institutional Source Beutler Lab
Gene Symbol Ercc6l2
Ensembl Gene ENSMUSG00000021470
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 6 like 2
Synonyms 0610007P08Rik, 9330134C04Rik, 1700019D06Rik
MMRRC Submission 040157-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R2154 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 63963054-64048116 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64013821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 631 (S631P)
Ref Sequence ENSEMBL: ENSMUSP00000069488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067821] [ENSMUST00000095724] [ENSMUST00000159957]
AlphaFold Q9JIM3
Predicted Effect probably damaging
Transcript: ENSMUST00000067821
AA Change: S631P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069488
Gene: ENSMUSG00000021470
AA Change: S631P

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 noncoding transcript
Transcript: ENSMUST00000109776
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221964
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,208,959 (GRCm39) E363G probably benign Het
Abca3 A G 17: 24,596,693 (GRCm39) Y382C probably damaging Het
Abca5 A G 11: 110,183,000 (GRCm39) I1019T probably benign Het
Acox3 A T 5: 35,762,568 (GRCm39) S481C probably damaging Het
Ankrd7 T A 6: 18,870,030 (GRCm39) M261K probably benign Het
Aqr A C 2: 113,967,485 (GRCm39) M510R probably damaging Het
Arpc1a A T 5: 145,029,369 (GRCm39) T56S probably benign Het
Asap2 A T 12: 21,162,084 (GRCm39) T14S probably damaging Het
Aspg A G 12: 112,087,408 (GRCm39) E288G probably benign Het
Atp2c2 A G 8: 120,482,841 (GRCm39) N901S probably benign Het
Cabcoco1 A G 10: 68,267,092 (GRCm39) L205P probably damaging Het
Cant1 A G 11: 118,302,263 (GRCm39) L18P probably damaging Het
Cdca2 G A 14: 67,914,425 (GRCm39) P945S probably damaging Het
Cfap74 A G 4: 155,513,753 (GRCm39) K522E possibly damaging Het
Chek1 C A 9: 36,635,279 (GRCm39) V35F probably damaging Het
Cpa6 A T 1: 10,407,547 (GRCm39) M330K probably damaging Het
Creb3l4 G T 3: 90,145,792 (GRCm39) N246K probably damaging Het
Cyp2c55 T A 19: 39,022,819 (GRCm39) V319D probably damaging Het
Dapk1 T A 13: 60,877,317 (GRCm39) S519T probably benign Het
Dhx38 T C 8: 110,287,306 (GRCm39) S221G probably benign Het
Dis3l T A 9: 64,214,545 (GRCm39) N981I probably benign Het
Dock4 T A 12: 40,870,661 (GRCm39) V1467E probably damaging Het
Dock4 ACCTGCTCTGCC ACCTGCTCTGCCTGCTCTGCC 12: 40,894,547 (GRCm39) probably benign Het
Dok5 G A 2: 170,642,816 (GRCm39) G38D probably damaging Het
Fat4 A T 3: 38,941,688 (GRCm39) S194C probably damaging Het
Fcsk T A 8: 111,615,704 (GRCm39) T542S probably benign Het
Garem2 T C 5: 30,313,297 (GRCm39) S54P probably damaging Het
Gdf10 T C 14: 33,656,346 (GRCm39) I436T probably damaging Het
Gfod1 T C 13: 43,456,946 (GRCm39) T10A possibly damaging Het
Gucy1a1 A G 3: 82,018,458 (GRCm39) probably null Het
Heatr5b G T 17: 79,138,873 (GRCm39) Q90K probably benign Het
Ikzf3 T A 11: 98,376,475 (GRCm39) K211* probably null Het
Itgam A C 7: 127,684,749 (GRCm39) D373A probably damaging Het
Itpripl2 A G 7: 118,089,107 (GRCm39) F484S probably damaging Het
Kat6b A T 14: 21,718,735 (GRCm39) H1138L probably benign Het
Kif16b T C 2: 142,532,500 (GRCm39) K1213R probably damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Mmp25 T A 17: 23,850,048 (GRCm39) Y504F probably damaging Het
Mtf2 A G 5: 108,228,797 (GRCm39) K38E possibly damaging Het
Myh14 A C 7: 44,301,853 (GRCm39) probably null Het
Nedd4l T A 18: 65,343,401 (GRCm39) H820Q probably damaging Het
Nfkb1 T C 3: 135,307,240 (GRCm39) T562A probably benign Het
Or8b49 G T 9: 38,505,707 (GRCm39) L63F probably damaging Het
Pds5a A T 5: 65,807,841 (GRCm39) V464E probably damaging Het
Peak1 C T 9: 56,114,496 (GRCm39) V452M probably damaging Het
Phf2 T C 13: 48,973,549 (GRCm39) Y372C unknown Het
Poc1a T A 9: 106,162,773 (GRCm39) probably null Het
Prss33 C T 17: 24,053,817 (GRCm39) V87M probably damaging Het
Psmc2 C G 5: 22,008,127 (GRCm39) L344V possibly damaging Het
Ptpn12 C A 5: 21,207,466 (GRCm39) Q297H probably damaging Het
Rabgap1 T C 2: 37,365,453 (GRCm39) V242A probably damaging Het
Rad1 C A 15: 10,486,721 (GRCm39) H39Q possibly damaging Het
Rad51ap2 A G 12: 11,507,986 (GRCm39) H636R probably benign Het
Samd9l C T 6: 3,372,945 (GRCm39) D1439N possibly damaging Het
Sbno1 A T 5: 124,516,574 (GRCm39) D1266E probably benign Het
Sidt2 T C 9: 45,856,638 (GRCm39) D477G probably damaging Het
Slc22a13 T C 9: 119,037,753 (GRCm39) K125R probably benign Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Slmap A G 14: 26,139,402 (GRCm39) Y771H probably damaging Het
Smg1 A T 7: 117,757,299 (GRCm39) probably benign Het
Spinkl A T 18: 44,302,194 (GRCm39) N32K probably benign Het
Stxbp1 T A 2: 32,692,868 (GRCm39) I383F probably damaging Het
Taf3 C T 2: 9,956,377 (GRCm39) E597K possibly damaging Het
Tln2 T C 9: 67,209,842 (GRCm39) T432A probably damaging Het
Tmco6 T C 18: 36,874,740 (GRCm39) V409A probably benign Het
Tstd2 T C 4: 46,129,235 (GRCm39) T198A probably damaging Het
Vmn1r230 T A 17: 21,067,063 (GRCm39) M84K probably damaging Het
Vmn1r45 T A 6: 89,910,965 (GRCm39) S2C possibly damaging Het
Vmn2r25 T A 6: 123,816,805 (GRCm39) T259S probably benign Het
Vmn2r70 A G 7: 85,212,923 (GRCm39) S495P possibly damaging Het
Vmn2r97 A T 17: 19,167,584 (GRCm39) R613* probably null Het
Yme1l1 T C 2: 23,052,520 (GRCm39) L58P probably damaging Het
Zan G A 5: 137,412,511 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,466,801 (GRCm39) T2320A possibly damaging Het
Zfp407 T C 18: 84,227,774 (GRCm39) D1945G possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GACCCAGGAGAAACATGTATGTC -3'
(R):5'- TGGCCTTAAGAAGCTTTCAGGAG -3'

Sequencing Primer
(F):5'- CCAGGAGAAACATGTATGTCATAGAC -3'
(R):5'- AAGAAGCTTTCAGGAGTAAAATCC -3'
Posted On 2014-10-01