Incidental Mutation 'R4233:Ercc6l2'
ID 320978
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 041642-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R4233 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 63963054-64048116 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 64019982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067821] [ENSMUST00000095724] [ENSMUST00000159957]
AlphaFold Q9JIM3
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000109776
Predicted Effect probably benign
Transcript: ENSMUST00000159957
SMART Domains Protein: ENSMUSP00000124912
Gene: ENSMUSG00000021470

DomainStartEndE-ValueType
Pfam:SNF2_N 101 195 2.1e-8 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (53/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A T 5: 138,562,454 (GRCm39) Y96N probably damaging Het
Abca15 C T 7: 120,002,202 (GRCm39) Q1572* probably null Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Aph1c A G 9: 66,740,603 (GRCm39) F41S probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Arhgef40 T C 14: 52,227,628 (GRCm39) V458A possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Ccar2 T C 14: 70,388,540 (GRCm39) T169A possibly damaging Het
Cfap58 G A 19: 47,963,994 (GRCm39) V541M possibly damaging Het
Coro2b T C 9: 62,333,467 (GRCm39) E376G possibly damaging Het
Dnah11 T C 12: 117,880,526 (GRCm39) T3865A probably damaging Het
Dync2h1 T C 9: 7,134,360 (GRCm39) E1549G probably benign Het
Fbxo32 G T 15: 58,055,729 (GRCm39) T135K possibly damaging Het
Fhip2b A C 14: 70,824,318 (GRCm39) V473G probably damaging Het
Fras1 A T 5: 96,862,235 (GRCm39) I2205F possibly damaging Het
Gm12034 A G 11: 20,396,785 (GRCm39) noncoding transcript Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Gm5108 C A 5: 68,132,496 (GRCm39) T55K unknown Het
Gpa33 A T 1: 165,974,340 (GRCm39) D59V probably damaging Het
Gpn2 T A 4: 133,312,016 (GRCm39) Y83N probably damaging Het
Gzf1 C T 2: 148,528,453 (GRCm39) P460S possibly damaging Het
Ifi203 A T 1: 173,764,099 (GRCm39) S124R possibly damaging Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ldlrap1 T A 4: 134,484,649 (GRCm39) probably null Het
Madd T C 2: 91,008,581 (GRCm39) E107G probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or52n4 A G 7: 104,294,195 (GRCm39) V126A probably benign Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A T 1: 97,792,119 (GRCm39) V434D possibly damaging Het
Plxnd1 T C 6: 115,942,914 (GRCm39) N1257D probably benign Het
Prkdc C T 16: 15,653,783 (GRCm39) A3870V probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 T C 13: 11,765,611 (GRCm39) D1375G probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc13a2 A G 11: 78,294,361 (GRCm39) probably benign Het
Slc7a13 T C 4: 19,819,070 (GRCm39) F90S probably damaging Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Stard13 A G 5: 150,986,164 (GRCm39) S331P probably benign Het
Sult2a8 T A 7: 14,147,608 (GRCm39) I228L probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tshz1 C A 18: 84,034,320 (GRCm39) E29D probably benign Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* 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
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
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'- TAAGTCAGACCAGGATGGCG -3'
(R):5'- ACTTTCACAGGGTTTTCTGCTTCAG -3'

Sequencing Primer
(F):5'- ATGGCGATGGCAACCCTG -3'
(R):5'- TCTTCAGATTCACCTAACAGCAG -3'
Posted On 2015-06-12