Incidental Mutation 'R7516:Lztr1'
ID 582487
Institutional Source Beutler Lab
Gene Symbol Lztr1
Ensembl Gene ENSMUSG00000022761
Gene Name leucine-zipper-like transcriptional regulator, 1
Synonyms TCFL2, 1200003E21Rik
MMRRC Submission 045589-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 17326552-17344197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17327525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 76 (A76V)
Ref Sequence ENSEMBL: ENSMUSP00000023444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023444] [ENSMUST00000023448] [ENSMUST00000115685] [ENSMUST00000231292] [ENSMUST00000231994] [ENSMUST00000232242] [ENSMUST00000232372]
AlphaFold Q9CQ33
Predicted Effect possibly damaging
Transcript: ENSMUST00000023444
AA Change: A76V

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
AA Change: A76V

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 probably benign
Transcript: ENSMUST00000023448
SMART Domains Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763

DomainStartEndE-ValueType
Pfam:Rieske 68 161 3.6e-18 PFAM
Pfam:Rieske_2 70 166 7.7e-11 PFAM
Pfam:Pyr_redox_2 196 473 1.1e-34 PFAM
Pfam:Pyr_redox 334 416 7e-17 PFAM
Pfam:Reductase_C 512 591 9.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115685
SMART Domains Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763

DomainStartEndE-ValueType
Pfam:Rieske 68 161 6.5e-23 PFAM
Pfam:Rieske_2 70 166 1.4e-10 PFAM
Pfam:Pyr_redox_2 195 493 1.6e-65 PFAM
Pfam:Pyr_redox 334 416 7.3e-18 PFAM
Pfam:Reductase_C 512 586 9.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231292
AA Change: A76V

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000231994
AA Change: A76V

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000232242
Predicted Effect probably benign
Transcript: ENSMUST00000232372
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 T A 14: 68,868,125 (GRCm39) I407F probably damaging Het
Agbl1 A G 7: 76,075,669 (GRCm39) Y437C probably damaging Het
Alkbh5 T C 11: 60,429,979 (GRCm39) V244A probably damaging Het
Arap1 T C 7: 101,058,538 (GRCm39) F1390L probably benign Het
Asph T C 4: 9,630,940 (GRCm39) D136G possibly damaging Het
Atp8a2 A T 14: 60,094,516 (GRCm39) Y841N probably damaging Het
Cald1 A T 6: 34,686,492 (GRCm39) probably benign Het
Capn11 A G 17: 45,949,766 (GRCm39) I400T possibly damaging Het
Cdh18 T A 15: 23,259,684 (GRCm39) probably null Het
Ces2h T A 8: 105,743,458 (GRCm39) L204Q probably damaging Het
Chrna3 G A 9: 54,922,653 (GRCm39) A385V probably benign Het
Clca4a A T 3: 144,672,009 (GRCm39) L311Q probably damaging Het
Clip1 A G 5: 123,721,448 (GRCm39) V1149A probably benign Het
Clip3 T A 7: 29,998,268 (GRCm39) V238D possibly damaging Het
Col12a1 A G 9: 79,520,192 (GRCm39) probably null Het
Coro2a A G 4: 46,562,992 (GRCm39) V54A probably benign Het
Crem T C 18: 3,299,141 (GRCm39) probably null Het
Dennd5b T C 6: 148,969,878 (GRCm39) I192V probably benign Het
Dst A G 1: 34,209,560 (GRCm39) N1209S probably benign Het
Ero1a T A 14: 45,525,480 (GRCm39) M385L probably benign Het
Fam13a A T 6: 58,932,248 (GRCm39) V375D probably damaging Het
Fgfbp3 T A 19: 36,896,324 (GRCm39) Y98F possibly damaging Het
Frem3 T C 8: 81,338,712 (GRCm39) V335A probably damaging Het
Gm19410 T A 8: 36,263,433 (GRCm39) D951E probably benign Het
Gpatch1 T C 7: 35,007,625 (GRCm39) D145G probably benign Het
H60c G T 10: 3,209,746 (GRCm39) C180* probably null Het
Hmcn1 T C 1: 150,498,718 (GRCm39) T4054A probably benign Het
Hrg A G 16: 22,780,048 (GRCm39) Y442C unknown Het
Hspg2 C T 4: 137,269,931 (GRCm39) R2327C possibly damaging Het
Klhl31 G T 9: 77,558,429 (GRCm39) A382S probably damaging Het
Knl1 T C 2: 118,901,179 (GRCm39) V960A probably damaging Het
Me3 G T 7: 89,497,183 (GRCm39) E395* probably null Het
Morc2b G A 17: 33,356,435 (GRCm39) H446Y probably benign Het
Mroh7 A T 4: 106,548,316 (GRCm39) M1054K probably benign Het
Ms4a6b T C 19: 11,506,907 (GRCm39) V232A probably benign Het
Nmt2 C A 2: 3,313,767 (GRCm39) D224E probably damaging Het
Nox4 C A 7: 86,970,905 (GRCm39) R261S probably benign Het
Obscn T A 11: 59,015,416 (GRCm39) K1019* probably null Het
Or4a15 T A 2: 89,193,719 (GRCm39) N18I probably benign Het
Or4g7 T A 2: 111,309,282 (GRCm39) V51D probably benign Het
Or5p67 G A 7: 107,922,223 (GRCm39) S220F probably damaging Het
Or8k24 C T 2: 86,216,328 (GRCm39) V145I probably benign Het
Pcdha11 A T 18: 37,144,671 (GRCm39) N254I probably damaging Het
Pck2 T A 14: 55,779,913 (GRCm39) I54N probably benign Het
Pkd1l3 T A 8: 110,361,861 (GRCm39) W978R probably damaging Het
Plxna4 T C 6: 32,214,703 (GRCm39) T593A probably benign Het
Podn G A 4: 107,879,321 (GRCm39) R266W probably damaging Het
Ptpn22 A G 3: 103,792,854 (GRCm39) D335G probably benign Het
Pxn A G 5: 115,644,922 (GRCm39) D3G unknown Het
Rapgefl1 T G 11: 98,736,960 (GRCm39) V320G probably benign Het
Rel A G 11: 23,692,785 (GRCm39) I416T probably benign Het
Sema5b A G 16: 35,471,540 (GRCm39) N378D probably benign Het
Sh3bp4 C A 1: 89,073,368 (GRCm39) L739M probably damaging Het
Skint2 A T 4: 112,483,168 (GRCm39) D191V probably damaging Het
Slc3a1 T C 17: 85,371,190 (GRCm39) Y581H probably damaging Het
Smcr8 G T 11: 60,670,814 (GRCm39) C654F probably benign Het
Spta1 A C 1: 174,025,349 (GRCm39) Q738P probably damaging Het
Sptlc3 C A 2: 139,431,438 (GRCm39) A320D probably benign Het
Thnsl2 T A 6: 71,108,990 (GRCm39) K274* probably null Het
Tmed2 T A 5: 124,685,055 (GRCm39) I68K possibly damaging Het
Tmtc4 G A 14: 123,180,735 (GRCm39) A326V possibly damaging Het
Tnks2 T A 19: 36,849,064 (GRCm39) S179T possibly damaging Het
Trim34b G T 7: 103,978,918 (GRCm39) C55F probably damaging Het
Trpm4 T A 7: 44,954,444 (GRCm39) E1129V probably damaging Het
Tvp23b T C 11: 62,782,867 (GRCm39) S188P possibly damaging Het
Usp1 A G 4: 98,822,356 (GRCm39) T557A probably damaging Het
Vmn2r66 C T 7: 84,661,176 (GRCm39) C18Y possibly damaging Het
Vmn2r85 T A 10: 130,254,852 (GRCm39) T611S probably damaging Het
Vps13c T C 9: 67,862,289 (GRCm39) S2969P possibly damaging Het
Wdr74 T A 19: 8,713,554 (GRCm39) C62* probably null Het
Wfikkn1 A T 17: 26,097,020 (GRCm39) C435S probably damaging Het
Zbtb45 A T 7: 12,740,269 (GRCm39) F449I probably damaging 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
IGL03012:Lztr1 APN 16 17,339,348 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- AGTGGGAAGTCTGAAGCGTC -3'
(R):5'- GTCTTCCTCACCGTAACATGGG -3'

Sequencing Primer
(F):5'- CCTTGCTGTCTGAAGAACTGAAG -3'
(R):5'- CTCACCGTAACATGGGAATCAAGG -3'
Posted On 2019-10-17