Incidental Mutation 'IGL02227:Bcorl1'
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ID285616
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 essential (E-score: 0.653) question?
Stock #IGL02227
Quality Score
Status
ChromosomeX
Chromosomal Location48341358-48408049 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48369360 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 590 (V590A)
Ref Sequence ENSEMBL: ENSMUSP00000122000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037596] [ENSMUST00000136348] [ENSMUST00000156042]
Predicted Effect probably benign
Transcript: ENSMUST00000037596
AA Change: V590A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000039898
Gene: ENSMUSG00000036959
AA Change: V590A

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: V575A
SMART Domains Protein: ENSMUSP00000110623
Gene: ENSMUSG00000036959
AA Change: V575A

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 benign
Transcript: ENSMUST00000136348
AA Change: V590A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122000
Gene: ENSMUSG00000036959
AA Change: V590A

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
Predicted Effect unknown
Transcript: ENSMUST00000142160
AA Change: V31A
SMART Domains Protein: ENSMUSP00000117056
Gene: ENSMUSG00000036959
AA Change: V31A

DomainStartEndE-ValueType
SCOP:d1dcs__ 440 573 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156042
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A G 10: 77,982,950 N152D possibly damaging Het
Acsl1 A G 8: 46,534,365 E662G probably benign Het
Acss3 A G 10: 107,045,335 S262P probably benign Het
Agap1 T C 1: 89,663,775 V263A probably damaging Het
Ap3b2 A G 7: 81,473,404 L454P probably damaging Het
Arrdc1 A T 2: 24,926,152 F280I possibly damaging Het
Atp8b1 G T 18: 64,562,190 H485N probably benign Het
Atrip A G 9: 109,061,664 S91P possibly damaging Het
Brf1 C A 12: 112,961,774 R590S probably damaging Het
Ccdc18 A T 5: 108,148,922 D197V possibly damaging Het
Ccr6 T C 17: 8,256,452 V163A probably damaging Het
Cct6b T C 11: 82,741,391 E257G probably damaging Het
Cdc42bpa A G 1: 180,094,424 D564G possibly damaging Het
Cdh2 C T 18: 16,629,586 V434I probably benign Het
Cltc C T 11: 86,697,340 V1610M possibly damaging Het
Cnot4 A G 6: 35,051,263 F473L probably benign Het
Dock3 T C 9: 107,062,055 K165E probably damaging Het
Duox2 A T 2: 122,285,153 probably benign Het
Epha7 A G 4: 28,821,587 S251G possibly damaging Het
Epn1 T A 7: 5,095,036 V282E probably benign Het
Fat1 T C 8: 45,023,659 L1914P probably damaging Het
Fbln2 T C 6: 91,256,367 I611T possibly damaging Het
Fgd6 G T 10: 94,134,084 M1198I probably damaging Het
Frmpd4 T A X: 167,492,935 I379F probably damaging Het
Gm6614 A T 6: 141,993,675 C197* probably null Het
Grk4 T A 5: 34,694,782 D123E probably benign Het
Hc T G 2: 35,009,911 probably benign Het
Hephl1 T C 9: 15,069,793 Y781C probably damaging Het
Hfe T C 13: 23,706,943 E71G probably benign Het
Hk1 A G 10: 62,281,140 probably benign Het
Ifnk G A 4: 35,152,642 probably benign Het
Kcnv1 C A 15: 45,114,274 G123C probably damaging Het
Kdelc2 T C 9: 53,388,479 L96S probably damaging Het
Klhl38 A T 15: 58,323,237 I32N possibly damaging Het
Lpl T C 8: 68,895,800 V227A probably damaging Het
Lurap1l A T 4: 80,953,857 S196C probably damaging Het
Mta1 T C 12: 113,120,908 L91P possibly damaging Het
Nelfe C A 17: 34,854,354 D288E probably benign Het
Olfr491 T A 7: 108,317,201 C102* probably null Het
Otof T C 5: 30,370,784 E1905G probably damaging Het
Pck2 T C 14: 55,543,866 I148T probably benign Het
Plcl2 G T 17: 50,606,397 V145F probably damaging Het
Plec A G 15: 76,172,274 S4510P probably damaging Het
Plxna2 A G 1: 194,752,089 E641G probably damaging Het
Ppp1r12a C T 10: 108,269,324 T434M probably damaging Het
Ppp6r3 A T 19: 3,518,245 N184K possibly damaging Het
Prkar1a G A 11: 109,660,175 probably benign Het
Psmb1 A T 17: 15,490,284 M1K probably null Het
Pwwp2a T C 11: 43,705,621 S538P possibly damaging Het
Rbm25 C T 12: 83,672,753 R516W probably damaging Het
Rnf103 A G 6: 71,510,188 D601G probably benign Het
Senp3 A G 11: 69,674,530 V467A possibly damaging Het
Slc8a3 T G 12: 81,315,683 T121P probably damaging Het
Srrt G A 5: 137,296,274 T790M probably damaging Het
Ssc5d T C 7: 4,933,454 probably null Het
Tas2r129 G A 6: 132,951,394 W98* probably null Het
Thoc5 A C 11: 4,926,217 M609L probably benign Het
Tnip1 G A 11: 54,936,471 T155M possibly damaging Het
Ttn A G 2: 76,788,328 V14458A probably benign Het
Unc5cl A G 17: 48,459,781 E61G probably benign Het
Usp32 T C 11: 84,986,481 K151E probably damaging Het
Vmn2r121 T C X: 124,132,681 M260V probably benign Het
Vwa7 G T 17: 35,020,084 R345L probably damaging Het
Zfp366 G T 13: 99,234,188 R472L possibly damaging Het
Zfp811 A T 17: 32,798,642 Y141* probably null Het
Zpbp C T 11: 11,415,248 E200K probably benign 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
IGL00502: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
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
Z1176:Bcorl1 UTSW X 48367842 missense unknown
Z1176:Bcorl1 UTSW X 48375090 frame shift probably null
Posted On2015-04-16