Incidental Mutation 'R7222:Lztr1'
ID 561901
Institutional Source Beutler Lab
Gene Symbol Lztr1
Ensembl Gene ENSMUSG00000022761
Gene Name leucine-zipper-like transcriptional regulator, 1
Synonyms TCFL2, 1200003E21Rik
MMRRC Submission 045294-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7222 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 17326552-17344197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17341996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 657 (E657G)
Ref Sequence ENSEMBL: ENSMUSP00000023444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023444] [ENSMUST00000100125] [ENSMUST00000231288] [ENSMUST00000231292] [ENSMUST00000231307] [ENSMUST00000231424] [ENSMUST00000231548] [ENSMUST00000231994] [ENSMUST00000232041] [ENSMUST00000232114] [ENSMUST00000232372]
AlphaFold Q9CQ33
Predicted Effect possibly damaging
Transcript: ENSMUST00000023444
AA Change: E657G

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
AA Change: E657G

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: ENSMUST00000100125
SMART Domains Protein: ENSMUSP00000097701
Gene: ENSMUSG00000022760

DomainStartEndE-ValueType
THAP 3 99 5e-20 SMART
DM3 25 98 4.22e-20 SMART
low complexity region 118 130 N/A INTRINSIC
low complexity region 153 164 N/A INTRINSIC
coiled coil region 239 296 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231288
Predicted Effect possibly damaging
Transcript: ENSMUST00000231292
AA Change: E638G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000231307
AA Change: E320G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000231424
Predicted Effect probably benign
Transcript: ENSMUST00000231548
Predicted Effect probably benign
Transcript: ENSMUST00000231994
Predicted Effect probably benign
Transcript: ENSMUST00000232041
Predicted Effect probably benign
Transcript: ENSMUST00000232114
Predicted Effect probably benign
Transcript: ENSMUST00000232372
Meta Mutation Damage Score 0.4875 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,082,519 (GRCm39) N1151K probably benign Het
Add3 T C 19: 53,205,277 (GRCm39) V9A unknown Het
Ankar A G 1: 72,705,514 (GRCm39) I832T probably damaging Het
Arhgef10l C A 4: 140,248,580 (GRCm39) W785L probably damaging Het
Atp7b G A 8: 22,512,394 (GRCm39) Q490* probably null Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clip1 T A 5: 123,749,904 (GRCm39) N993I probably damaging Het
Cyp3a59 A T 5: 146,033,385 (GRCm39) probably null Het
Dnah3 T A 7: 119,670,746 (GRCm39) N651Y probably benign Het
Dop1a T C 9: 86,404,929 (GRCm39) probably null Het
Eva1c AGGGTGTCCTGTACGAAGGACTTCCGGG AGGG 16: 90,701,072 (GRCm39) probably benign Het
Flg T A 3: 93,195,621 (GRCm39) S74T unknown Het
Fras1 T C 5: 96,784,045 (GRCm39) Y850H probably damaging Het
Fras1 A T 5: 96,784,668 (GRCm39) T884S probably benign Het
Fsip2 A G 2: 82,814,015 (GRCm39) T3445A probably benign Het
Herc1 C A 9: 66,374,781 (GRCm39) P3237H probably damaging Het
Ifi35 A G 11: 101,348,341 (GRCm39) N123S probably benign Het
Igkv1-117 A T 6: 68,098,733 (GRCm39) D94V probably damaging Het
Kif1b T C 4: 149,309,614 (GRCm39) D764G probably damaging Het
Mmd2 G T 5: 142,553,682 (GRCm39) L160I probably benign Het
Muc2 A T 7: 141,290,758 (GRCm39) T15S Het
Muc6 T A 7: 141,214,428 (GRCm39) H2835L unknown Het
Myo1h G A 5: 114,493,322 (GRCm39) probably null Het
Or10v5 C A 19: 11,806,021 (GRCm39) R123L probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or52n4 T C 7: 104,293,937 (GRCm39) D214G probably damaging Het
Or5d43 T A 2: 88,104,809 (GRCm39) M195L probably benign Het
Or5p72 A G 7: 108,021,844 (GRCm39) D22G probably benign Het
Or6c219 A G 10: 129,781,758 (GRCm39) Y58H probably damaging Het
Or7g32 A T 9: 19,388,763 (GRCm39) V261E probably damaging Het
Osbpl7 A G 11: 96,951,364 (GRCm39) T684A probably damaging Het
P2ry14 T C 3: 59,022,803 (GRCm39) K219R probably benign Het
Pde4d A T 13: 109,894,113 (GRCm39) H156L probably damaging Het
Polq G T 16: 36,906,995 (GRCm39) E2319* probably null Het
Ranbp3 T G 17: 57,017,211 (GRCm39) V409G probably damaging Het
Sart3 T C 5: 113,884,717 (GRCm39) D629G probably benign Het
Selenon T A 4: 134,275,288 (GRCm39) T137S possibly damaging Het
Setd2 T A 9: 110,380,530 (GRCm39) D55E Het
Slamf8 G A 1: 172,411,775 (GRCm39) T240I possibly damaging Het
Slc39a10 A G 1: 46,858,452 (GRCm39) L615P possibly damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tbce T C 13: 14,172,735 (GRCm39) D505G probably damaging Het
Tenm3 C T 8: 48,754,004 (GRCm39) G800R probably damaging Het
Terf2ip T C 8: 112,738,547 (GRCm39) V145A possibly damaging Het
Tmprss7 T C 16: 45,511,256 (GRCm39) I41V probably benign Het
Traj49 A T 14: 54,406,160 (GRCm39) N6I Het
Trim30a T C 7: 104,070,639 (GRCm39) probably null Het
Ubr4 T A 4: 139,190,684 (GRCm39) S905T unknown Het
Unc93a2 A G 17: 7,643,866 (GRCm39) S148P probably damaging Het
Zfp948 T A 17: 21,808,102 (GRCm39) H431Q probably damaging Het
Zfyve1 A G 12: 83,601,779 (GRCm39) F525L 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
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
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
Predicted Primers PCR Primer
(F):5'- ACTGGCACTTCTGGCTTTGG -3'
(R):5'- AATGGAGATGTTCACCTGCC -3'

Sequencing Primer
(F):5'- CACTTCTGGCTTTGGGAAAC -3'
(R):5'- ATGGCCTCAAAGTAGCTGC -3'
Posted On 2019-06-26