Incidental Mutation 'IGL03012:Lztr1'
ID 407806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lztr1
Ensembl Gene ENSMUSG00000022761
Gene Name leucine-zipper-like transcriptional regulator, 1
Synonyms TCFL2, 1200003E21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03012
Quality Score
Status
Chromosome 16
Chromosomal Location 17326552-17344197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17339348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 57 (S57P)
Ref Sequence ENSEMBL: ENSMUSP00000156018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023444] [ENSMUST00000115681] [ENSMUST00000142259] [ENSMUST00000231292] [ENSMUST00000231307] [ENSMUST00000232372] [ENSMUST00000231994]
AlphaFold Q9CQ33
Predicted Effect possibly damaging
Transcript: ENSMUST00000023444
AA Change: S394P

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
AA Change: S394P

DomainStartEndE-ValueType
Pfam:Kelch_6 64 103 1.1e-7 PFAM
Pfam:Kelch_1 64 105 1.7e-7 PFAM
Pfam:Kelch_4 64 113 4.7e-10 PFAM
Pfam:Kelch_3 74 123 3.1e-10 PFAM
Pfam:Kelch_5 111 152 7.2e-9 PFAM
Pfam:Kelch_1 114 161 2.8e-7 PFAM
Pfam:Kelch_2 114 163 1e-7 PFAM
Pfam:Kelch_4 114 170 1.9e-6 PFAM
Pfam:Kelch_3 124 180 9.1e-9 PFAM
Pfam:Kelch_4 171 224 6.1e-6 PFAM
Pfam:Kelch_3 181 232 6e-7 PFAM
Pfam:Kelch_1 224 267 1e-6 PFAM
Pfam:Kelch_4 225 278 6.2e-6 PFAM
Pfam:Kelch_3 234 289 2.2e-8 PFAM
Pfam:Kelch_1 280 325 7.7e-10 PFAM
Pfam:Kelch_2 280 325 4.3e-7 PFAM
Pfam:Kelch_6 280 325 9.6e-9 PFAM
Pfam:Kelch_4 280 329 2.5e-8 PFAM
BTB 440 571 4.16e-4 SMART
BTB 664 765 2.95e-18 SMART
low complexity region 808 821 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115681
AA Change: S394P

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111345
Gene: ENSMUSG00000022761
AA Change: S394P

DomainStartEndE-ValueType
Pfam:Kelch_5 63 99 1.1e-6 PFAM
Pfam:Kelch_1 64 105 1.6e-8 PFAM
Pfam:Kelch_4 64 113 5.8e-9 PFAM
Pfam:Kelch_6 64 115 2.6e-9 PFAM
Pfam:Kelch_3 74 123 2.4e-11 PFAM
Pfam:Kelch_5 111 150 5.5e-10 PFAM
Pfam:Kelch_1 114 161 5.8e-8 PFAM
Pfam:Kelch_2 114 163 3.1e-8 PFAM
Pfam:Kelch_4 114 170 1e-9 PFAM
Pfam:Kelch_3 124 180 2.5e-10 PFAM
Pfam:Kelch_5 168 204 6.1e-7 PFAM
Pfam:Kelch_4 171 224 7.9e-8 PFAM
Pfam:Kelch_3 181 233 9.1e-8 PFAM
Pfam:Kelch_4 223 279 3.1e-7 PFAM
Pfam:Kelch_1 224 267 1.9e-6 PFAM
Pfam:Kelch_3 234 289 1.5e-8 PFAM
Pfam:Kelch_1 280 325 2.9e-10 PFAM
Pfam:Kelch_2 280 325 1.3e-7 PFAM
Pfam:Kelch_6 280 326 2.4e-9 PFAM
Pfam:Kelch_4 280 335 1.7e-9 PFAM
Pfam:Kelch_5 381 419 2.8e-7 PFAM
BTB 440 571 4.16e-4 SMART
BTB 664 797 1.7e-18 SMART
low complexity region 808 821 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142222
Predicted Effect possibly damaging
Transcript: ENSMUST00000142259
AA Change: S57P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118569
Gene: ENSMUSG00000022761
AA Change: S57P

DomainStartEndE-ValueType
BTB 103 234 4.16e-4 SMART
BTB 327 460 1.7e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142393
Predicted Effect possibly damaging
Transcript: ENSMUST00000231292
AA Change: S375P

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231307
AA Change: S57P

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231684
Predicted Effect probably benign
Transcript: ENSMUST00000232372
Predicted Effect probably benign
Transcript: ENSMUST00000231994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232379
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the BR-C, ttk and bab-kelch superfamily that, in humans, localizes to the Golgi network and is associated with the ras / mitogen-activated protein kinase pathway. Loss-of-function mutations in the human ortholog are associated with glioblastoma multiforme, schwannomatosis, Noonan syndrome, and DiGeorge syndrome. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A C 9: 118,986,014 (GRCm39) S17A probably benign Het
Acp1 T G 12: 30,945,948 (GRCm39) N135T probably benign Het
Adamts2 A G 11: 50,667,096 (GRCm39) probably benign Het
Arfgef2 C T 2: 166,710,808 (GRCm39) probably benign Het
Atp10b T A 11: 43,085,482 (GRCm39) I287N probably damaging Het
Camta1 T A 4: 151,537,756 (GRCm39) K141N probably damaging Het
Carmil1 T C 13: 24,220,355 (GRCm39) D719G probably benign Het
Cntnap5c T A 17: 58,666,229 (GRCm39) H1086Q probably benign Het
Dsg3 A G 18: 20,670,300 (GRCm39) probably null Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
G6pd2 A G 5: 61,966,816 (GRCm39) Y197C probably damaging Het
Il13ra1 G T X: 35,394,247 (GRCm39) probably benign Het
Ivl G A 3: 92,479,733 (GRCm39) P111S probably benign Het
Kmt2a T C 9: 44,722,263 (GRCm39) probably benign Het
Mtss1 T G 15: 58,930,249 (GRCm39) D32A probably damaging Het
Mylk G A 16: 34,773,151 (GRCm39) D1250N probably benign Het
Ncln A G 10: 81,325,799 (GRCm39) F349L probably benign Het
Pgap1 A G 1: 54,572,572 (GRCm39) probably benign Het
Rarres2 T C 6: 48,547,239 (GRCm39) D107G probably benign Het
Ric3 T C 7: 108,637,925 (GRCm39) D276G probably benign Het
Trim54 A G 5: 31,294,489 (GRCm39) D339G probably benign Het
Trip11 G A 12: 101,850,195 (GRCm39) H1005Y probably damaging Het
Tulp4 G T 17: 6,263,654 (GRCm39) probably benign Het
Unc93a C T 17: 13,328,495 (GRCm39) E453K probably benign Het
Vmn1r181 A T 7: 23,684,027 (GRCm39) D164V probably damaging Het
Vmn1r78 T A 7: 11,887,291 (GRCm39) S301T probably benign Het
Vmn1r85 T C 7: 12,818,692 (GRCm39) N151D probably benign Het
Wnk2 T C 13: 49,197,865 (GRCm39) K2008E probably damaging Het
Wrap73 A G 4: 154,229,691 (GRCm39) probably benign Het
Zfp408 G A 2: 91,478,153 (GRCm39) A41V probably benign Het
Zfp472 A G 17: 33,196,545 (GRCm39) S207G probably benign Het
Other mutations in Lztr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Lztr1 APN 16 17,335,314 (GRCm39) splice site probably benign
IGL01152:Lztr1 APN 16 17,340,317 (GRCm39) missense probably damaging 1.00
IGL01501:Lztr1 APN 16 17,340,255 (GRCm39) splice site probably null
IGL01512:Lztr1 APN 16 17,340,255 (GRCm39) splice site probably null
IGL01514:Lztr1 APN 16 17,340,255 (GRCm39) splice site probably null
IGL01516:Lztr1 APN 16 17,340,255 (GRCm39) splice site probably null
IGL01933:Lztr1 APN 16 17,338,455 (GRCm39) missense probably damaging 1.00
IGL02603:Lztr1 APN 16 17,327,550 (GRCm39) missense possibly damaging 0.77
IGL03191:Lztr1 APN 16 17,336,392 (GRCm39) missense probably damaging 1.00
R0331:Lztr1 UTSW 16 17,342,101 (GRCm39) unclassified probably benign
R0717:Lztr1 UTSW 16 17,333,912 (GRCm39) splice site probably null
R1511:Lztr1 UTSW 16 17,327,534 (GRCm39) missense probably damaging 1.00
R1925:Lztr1 UTSW 16 17,341,247 (GRCm39) missense probably damaging 1.00
R2062:Lztr1 UTSW 16 17,327,534 (GRCm39) missense probably damaging 1.00
R3694:Lztr1 UTSW 16 17,326,925 (GRCm39) missense possibly damaging 0.90
R3935:Lztr1 UTSW 16 17,340,059 (GRCm39) nonsense probably null
R4645:Lztr1 UTSW 16 17,341,955 (GRCm39) unclassified probably benign
R5624:Lztr1 UTSW 16 17,329,993 (GRCm39) splice site probably benign
R7175:Lztr1 UTSW 16 17,340,895 (GRCm39) missense possibly damaging 0.84
R7222:Lztr1 UTSW 16 17,341,996 (GRCm39) missense possibly damaging 0.86
R7420:Lztr1 UTSW 16 17,341,993 (GRCm39) missense probably damaging 1.00
R7515:Lztr1 UTSW 16 17,327,525 (GRCm39) missense possibly damaging 0.87
R7516:Lztr1 UTSW 16 17,327,525 (GRCm39) missense possibly damaging 0.87
R8027:Lztr1 UTSW 16 17,329,976 (GRCm39) missense probably damaging 1.00
R8153:Lztr1 UTSW 16 17,336,439 (GRCm39) critical splice donor site probably null
R8836:Lztr1 UTSW 16 17,343,402 (GRCm39) missense probably benign 0.07
R8965:Lztr1 UTSW 16 17,327,296 (GRCm39) critical splice donor site probably null
R9015:Lztr1 UTSW 16 17,337,305 (GRCm39) missense probably benign 0.08
R9232:Lztr1 UTSW 16 17,339,343 (GRCm39) missense possibly damaging 0.78
R9667:Lztr1 UTSW 16 17,327,000 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02