Incidental Mutation 'IGL00502:Bcorl1'
ID332471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcorl1
Ensembl Gene ENSMUSG00000036959
Gene NameBCL6 co-repressor-like 1
Synonyms6720425J07Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.462) question?
Stock #IGL00502
Quality Score
Status
ChromosomeX
Chromosomal Location48341358-48408049 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 48406042 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 1730 (V1730G)
Ref Sequence ENSEMBL: ENSMUSP00000122000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037596] [ENSMUST00000136348]
Predicted Effect probably damaging
Transcript: ENSMUST00000037596
AA Change: V1730G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039898
Gene: ENSMUSG00000036959
AA Change: V1730G

DomainStartEndE-ValueType
low complexity region 205 218 N/A INTRINSIC
low complexity region 237 260 N/A INTRINSIC
low complexity region 268 301 N/A INTRINSIC
low complexity region 333 365 N/A INTRINSIC
low complexity region 368 410 N/A INTRINSIC
low complexity region 521 531 N/A INTRINSIC
low complexity region 1110 1138 N/A INTRINSIC
low complexity region 1248 1263 N/A INTRINSIC
low complexity region 1316 1324 N/A INTRINSIC
low complexity region 1328 1339 N/A INTRINSIC
ANK 1493 1523 3.44e1 SMART
ANK 1527 1556 7.02e-5 SMART
ANK 1560 1589 1.25e-1 SMART
Pfam:PUFD 1663 1780 3.7e-54 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000114972
AA Change: V1641G
SMART Domains Protein: ENSMUSP00000110623
Gene: ENSMUSG00000036959
AA Change: V1641G

DomainStartEndE-ValueType
low complexity region 191 204 N/A INTRINSIC
low complexity region 223 246 N/A INTRINSIC
low complexity region 254 287 N/A INTRINSIC
low complexity region 319 351 N/A INTRINSIC
low complexity region 354 396 N/A INTRINSIC
low complexity region 507 517 N/A INTRINSIC
low complexity region 1096 1124 N/A INTRINSIC
low complexity region 1234 1249 N/A INTRINSIC
low complexity region 1302 1310 N/A INTRINSIC
low complexity region 1314 1325 N/A INTRINSIC
ANK 1439 1468 7.02e-5 SMART
ANK 1472 1501 1.25e-1 SMART
Pfam:PUFD 1575 1692 1.4e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136348
AA Change: V1730G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122000
Gene: ENSMUSG00000036959
AA Change: V1730G

DomainStartEndE-ValueType
low complexity region 205 218 N/A INTRINSIC
low complexity region 237 260 N/A INTRINSIC
low complexity region 268 301 N/A INTRINSIC
low complexity region 333 365 N/A INTRINSIC
low complexity region 368 410 N/A INTRINSIC
low complexity region 521 531 N/A INTRINSIC
low complexity region 1110 1138 N/A INTRINSIC
low complexity region 1248 1263 N/A INTRINSIC
low complexity region 1316 1324 N/A INTRINSIC
low complexity region 1328 1339 N/A INTRINSIC
ANK 1493 1523 3.44e1 SMART
ANK 1527 1556 7.02e-5 SMART
ANK 1560 1589 1.25e-1 SMART
PDB:4HPM|C 1663 1781 1e-68 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,403,397 I82N probably damaging Het
Ampd2 A T 3: 108,077,396 L422H probably damaging Het
Angptl2 T A 2: 33,228,394 V60E probably damaging Het
Ano3 G A 2: 110,771,050 probably benign Het
Arhgap40 A G 2: 158,531,158 D112G probably benign Het
Btrc A T 19: 45,527,265 E553V probably damaging Het
Cacna1b A T 2: 24,651,200 Y1323* probably null Het
Ccdc146 A G 5: 21,301,422 C674R possibly damaging Het
Ccdc170 A G 10: 4,546,836 D458G probably damaging Het
Cfap57 T A 4: 118,581,001 M898L probably benign Het
Crybg1 C T 10: 43,958,313 V1961I probably damaging Het
Dsp T C 13: 38,197,846 S2257P probably damaging Het
Dytn A G 1: 63,678,840 V12A probably benign Het
Foxk2 A G 11: 121,297,099 probably benign Het
Gfi1b G A 2: 28,614,785 Q70* probably null Het
Gm20388 T C 8: 124,328,098 M204T probably damaging Het
Gsdmc T C 15: 63,804,421 T58A probably benign Het
Hikeshi G A 7: 89,923,610 T26I probably benign Het
Mpdz T C 4: 81,369,723 D433G probably damaging Het
Ndufb5 T A 3: 32,744,899 V55D probably damaging Het
Nostrin T C 2: 69,183,992 S431P probably benign Het
Papd5 C T 8: 88,252,258 Q63* probably null Het
Pdcd1lg2 A T 19: 29,446,062 T169S possibly damaging Het
Plekha7 A T 7: 116,135,184 M1006K probably damaging Het
Rgs6 A T 12: 83,051,323 I94F probably benign Het
Rims2 A T 15: 39,506,984 D938V probably damaging Het
Slc4a8 A G 15: 100,807,438 T842A possibly damaging Het
Spata21 C A 4: 141,111,364 probably null Het
Stk32a C T 18: 43,310,445 T229I possibly damaging Het
Trim33 C T 3: 103,330,182 P185S probably benign Het
Tspoap1 A G 11: 87,777,821 probably null Het
Vcan A G 13: 89,692,319 V742A probably benign Het
Vrtn A T 12: 84,649,063 I196F probably benign Het
Wasf1 A T 10: 40,920,297 I8F probably damaging Het
Ythdc2 A G 18: 44,847,812 I491M probably damaging Het
Zfp292 T C 4: 34,809,775 T1095A possibly damaging Het
Other mutations in Bcorl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Bcorl1 APN X 48406042 missense probably damaging 1.00
IGL00491:Bcorl1 APN X 48406042 missense probably damaging 1.00
IGL00504:Bcorl1 APN X 48406042 missense probably damaging 1.00
IGL00803:Bcorl1 APN X 48369552 missense probably damaging 1.00
IGL02227:Bcorl1 APN X 48369360 missense probably benign 0.04
R0696:Bcorl1 UTSW X 48406018 missense probably damaging 1.00
R1514:Bcorl1 UTSW X 48405944 missense probably damaging 1.00
R2069:Bcorl1 UTSW X 48401917 splice site probably benign
R2102:Bcorl1 UTSW X 48369204 missense probably benign 0.00
R2418:Bcorl1 UTSW X 48370541 missense probably damaging 1.00
R2419:Bcorl1 UTSW X 48370541 missense probably damaging 1.00
R3404:Bcorl1 UTSW X 48371007 missense probably benign 0.02
R3405:Bcorl1 UTSW X 48371007 missense probably benign 0.02
Posted On2015-08-05