Incidental Mutation 'IGL01611:Lcorl'
ID92093
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcorl
Ensembl Gene ENSMUSG00000015882
Gene Nameligand dependent nuclear receptor corepressor-like
SynonymsMlr1, A830039H10Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.405) question?
Stock #IGL01611
Quality Score
Status
Chromosome5
Chromosomal Location45697181-45857615 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45747092 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 205 (T205A)
Ref Sequence ENSEMBL: ENSMUSP00000140503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016026] [ENSMUST00000045586] [ENSMUST00000087164] [ENSMUST00000121573] [ENSMUST00000189859] [ENSMUST00000190036]
Predicted Effect probably damaging
Transcript: ENSMUST00000016026
AA Change: T215A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000016026
Gene: ENSMUSG00000015882
AA Change: T215A

DomainStartEndE-ValueType
low complexity region 234 253 N/A INTRINSIC
Pfam:HTH_psq 276 313 5.1e-9 PFAM
Pfam:HTH_psq 525 570 1.9e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000045586
AA Change: T215A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042677
Gene: ENSMUSG00000015882
AA Change: T215A

DomainStartEndE-ValueType
low complexity region 234 253 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000087164
AA Change: T132A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084408
Gene: ENSMUSG00000015882
AA Change: T132A

DomainStartEndE-ValueType
low complexity region 151 170 N/A INTRINSIC
Pfam:HTH_psq 193 230 3.4e-7 PFAM
Pfam:HTH_psq 442 487 9.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121573
AA Change: T132A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112416
Gene: ENSMUSG00000015882
AA Change: T132A

DomainStartEndE-ValueType
low complexity region 151 170 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187615
Predicted Effect probably benign
Transcript: ENSMUST00000189859
SMART Domains Protein: ENSMUSP00000139996
Gene: ENSMUSG00000015882

DomainStartEndE-ValueType
Blast:ZnF_C2H2 16 38 1e-5 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000190036
AA Change: T205A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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 transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,907,870 L209S possibly damaging Het
Abcc2 G T 19: 43,826,629 V1152F probably damaging Het
Adam9 C T 8: 24,967,196 V639I probably benign Het
Cdc6 A G 11: 98,915,163 I388V probably benign Het
Chrm5 C T 2: 112,480,306 W155* probably null Het
Chrna9 A G 5: 65,970,944 D161G probably damaging Het
Det1 A G 7: 78,827,954 V541A possibly damaging Het
Efhc1 G T 1: 20,990,687 *649L probably null Het
Ehbp1 C T 11: 22,172,883 V146M probably damaging Het
Enam A C 5: 88,503,749 D1039A probably damaging Het
Fam20b A T 1: 156,702,465 V133E probably benign Het
Frem2 T A 3: 53,655,709 Q459L probably benign Het
Gapdhs C T 7: 30,730,441 probably benign Het
Gm3404 T A 5: 146,528,347 V299D possibly damaging Het
Gorasp2 C A 2: 70,689,260 H310N possibly damaging Het
Gpr157 T C 4: 150,101,637 S219P possibly damaging Het
Gpt2 T A 8: 85,519,538 C375* probably null Het
Gtf2h3 T C 5: 124,595,685 S274P probably damaging Het
Hmg20b C T 10: 81,347,475 V83M probably benign Het
Igf2r G T 17: 12,725,415 Y400* probably null Het
Ipo9 A T 1: 135,386,693 W942R possibly damaging Het
Iqch T C 9: 63,496,237 probably null Het
Kcnh3 T C 15: 99,229,502 L393P probably benign Het
Kcnk12 T A 17: 87,797,067 I130L probably benign Het
Lpar6 G T 14: 73,239,438 A280S probably damaging Het
Mgarp A T 3: 51,389,149 V152E probably damaging Het
Pard3b A G 1: 62,637,862 D1184G probably damaging Het
Pcnt A G 10: 76,436,424 probably null Het
Pde6b A G 5: 108,403,396 N182S possibly damaging Het
Pom121 T C 5: 135,383,672 K516E unknown Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptpn18 T C 1: 34,459,817 probably benign Het
Rapgef5 C T 12: 117,753,419 probably benign Het
Ryr2 A G 13: 11,591,316 L4460S possibly damaging Het
Sema6b T C 17: 56,129,969 probably null Het
Serpinb6d T A 13: 33,666,392 C67* probably null Het
Sorbs2 T G 8: 45,795,344 V510G probably null Het
Spic T A 10: 88,676,002 I131F possibly damaging Het
Spire2 T C 8: 123,359,398 S290P probably damaging Het
Tas2r117 C T 6: 132,803,484 S195F probably benign Het
Tas2r117 T C 6: 132,803,487 V196A probably damaging Het
Tff1 C T 17: 31,162,729 G58D probably damaging Het
Tmprss11g T C 5: 86,490,781 T283A probably benign Het
Toporsl T A 4: 52,610,794 L229H probably damaging Het
Vmn2r80 G A 10: 79,171,654 G488D probably damaging Het
Vps54 T A 11: 21,311,082 V583D probably damaging Het
Vwa1 T C 4: 155,770,798 E286G possibly damaging Het
Vwde A T 6: 13,219,978 I58N probably damaging Het
Zbtb11 T C 16: 55,980,610 V109A probably damaging Het
Zfp319 C T 8: 95,328,912 R221Q probably benign Het
Other mutations in Lcorl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Lcorl APN 5 45747295 missense probably damaging 1.00
IGL03014:Lcorl UTSW 5 45774029 intron probably benign
R0070:Lcorl UTSW 5 45733701 missense probably damaging 1.00
R0070:Lcorl UTSW 5 45733701 missense probably damaging 1.00
R0499:Lcorl UTSW 5 45734369 missense probably benign 0.00
R1518:Lcorl UTSW 5 45734201 missense possibly damaging 0.94
R1817:Lcorl UTSW 5 45795346 missense probably damaging 1.00
R1977:Lcorl UTSW 5 45775420 missense probably null 0.16
R2171:Lcorl UTSW 5 45747151 missense probably damaging 0.99
R3737:Lcorl UTSW 5 45734041 missense possibly damaging 0.95
R3738:Lcorl UTSW 5 45734041 missense possibly damaging 0.95
R3739:Lcorl UTSW 5 45734041 missense possibly damaging 0.95
R3825:Lcorl UTSW 5 45775387 splice site probably benign
R4035:Lcorl UTSW 5 45734041 missense possibly damaging 0.95
R4199:Lcorl UTSW 5 45733788 missense possibly damaging 0.83
R4583:Lcorl UTSW 5 45733589 nonsense probably null
R4647:Lcorl UTSW 5 45733589 nonsense probably null
R4803:Lcorl UTSW 5 45747281 unclassified probably null
R5524:Lcorl UTSW 5 45775522 critical splice acceptor site probably null
R5524:Lcorl UTSW 5 45775523 critical splice acceptor site probably null
R5526:Lcorl UTSW 5 45733727 missense probably benign
R5533:Lcorl UTSW 5 45733877 missense possibly damaging 0.47
R5772:Lcorl UTSW 5 45795367 splice site probably null
R5927:Lcorl UTSW 5 45725424 intron probably benign
R6175:Lcorl UTSW 5 45776490 missense probably damaging 1.00
R6734:Lcorl UTSW 5 45733497 missense probably damaging 0.98
R6864:Lcorl UTSW 5 45747204 missense probably damaging 1.00
R7078:Lcorl UTSW 5 45747224 missense probably damaging 1.00
X0023:Lcorl UTSW 5 45734012 missense probably damaging 0.98
Posted On2013-12-09