Incidental Mutation 'R6695:Luzp1'
ID 528529
Institutional Source Beutler Lab
Gene Symbol Luzp1
Ensembl Gene ENSMUSG00000001089
Gene Name leucine zipper protein 1
Synonyms 2700072H04Rik, Luzp
MMRRC Submission 044813-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.869) question?
Stock # R6695 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 136197072-136282091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136272609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 12 (S12P)
Ref Sequence ENSEMBL: ENSMUSP00000132089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001116] [ENSMUST00000063021] [ENSMUST00000105849] [ENSMUST00000129230] [ENSMUST00000168936] [ENSMUST00000170102]
AlphaFold Q8R4U7
Predicted Effect probably benign
Transcript: ENSMUST00000001116
AA Change: S1038P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: S1038P

DomainStartEndE-ValueType
SCOP:d1fxkc_ 96 233 4e-3 SMART
coiled coil region 264 350 N/A INTRINSIC
internal_repeat_1 569 638 9.92e-6 PROSPERO
low complexity region 756 769 N/A INTRINSIC
low complexity region 783 796 N/A INTRINSIC
internal_repeat_1 986 1056 9.92e-6 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000063021
AA Change: S1038P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: S1038P

DomainStartEndE-ValueType
SCOP:d1fxkc_ 96 233 4e-3 SMART
coiled coil region 264 350 N/A INTRINSIC
internal_repeat_1 569 638 9.92e-6 PROSPERO
low complexity region 756 769 N/A INTRINSIC
low complexity region 783 796 N/A INTRINSIC
internal_repeat_1 986 1056 9.92e-6 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000105849
AA Change: S1038P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: S1038P

DomainStartEndE-ValueType
SCOP:d1fxkc_ 96 233 4e-3 SMART
coiled coil region 264 350 N/A INTRINSIC
internal_repeat_1 569 638 9.92e-6 PROSPERO
low complexity region 756 769 N/A INTRINSIC
low complexity region 783 796 N/A INTRINSIC
internal_repeat_1 986 1056 9.92e-6 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000129230
SMART Domains Protein: ENSMUSP00000128591
Gene: ENSMUSG00000001089

DomainStartEndE-ValueType
coiled coil region 11 57 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000168936
AA Change: S12P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000170102
AA Change: S1038P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: S1038P

DomainStartEndE-ValueType
SCOP:d1fxkc_ 96 233 4e-3 SMART
coiled coil region 264 350 N/A INTRINSIC
internal_repeat_1 569 638 9.92e-6 PROSPERO
low complexity region 756 769 N/A INTRINSIC
low complexity region 783 796 N/A INTRINSIC
internal_repeat_1 986 1056 9.92e-6 PROSPERO
Meta Mutation Damage Score 0.0621 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
PHENOTYPE: Gene inactivation causes defective neural tube closure (exencephaly) and massive apoptosis in the hindbrain. Despite the incomplete penetrance of NTD, all homozygotes die perinatally due to complex cardiovascular anomalies. Other defects include an eyelid fusion defect, omphalocele and cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,943,497 (GRCm39) L179H probably benign Het
Cacna1h C A 17: 25,612,714 (GRCm39) A370S probably damaging Het
Cc2d2a A T 5: 43,876,019 (GRCm39) I1053F probably damaging Het
Csmd3 A G 15: 47,721,230 (GRCm39) V1467A probably damaging Het
Cyp4f15 T A 17: 32,911,586 (GRCm39) L156* probably null Het
Dmwd T A 7: 18,814,652 (GRCm39) L434Q probably damaging Het
Dtx4 T A 19: 12,450,599 (GRCm39) R538* probably null Het
Fcgbp T A 7: 27,785,695 (GRCm39) C377* probably null Het
Galntl6 G T 8: 58,880,804 (GRCm39) H116Q probably damaging Het
Herc1 T A 9: 66,391,148 (GRCm39) probably null Het
Hydin T G 8: 111,053,092 (GRCm39) S255A probably benign Het
Knstrn G A 2: 118,644,723 (GRCm39) A48T probably damaging Het
Lonrf2 T C 1: 38,852,470 (GRCm39) D127G probably benign Het
Man2c1 A T 9: 57,048,875 (GRCm39) H822L probably benign Het
Map3k13 G T 16: 21,741,028 (GRCm39) G785V probably benign Het
Mia2 A G 12: 59,219,366 (GRCm39) H454R probably damaging Het
Mib2 G A 4: 155,745,629 (GRCm39) R61C probably damaging Het
Muc15 A T 2: 110,561,616 (GRCm39) L17F probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nav2 A G 7: 49,114,652 (GRCm39) I879V probably benign Het
Nomo1 T A 7: 45,715,885 (GRCm39) S751T probably benign Het
Or1j10 A T 2: 36,267,117 (GRCm39) S110C probably benign Het
Or5b24 A T 19: 12,912,764 (GRCm39) I221L possibly damaging Het
Or5g27 A G 2: 85,409,793 (GRCm39) D70G probably damaging Het
Pcdhac2 A G 18: 37,278,256 (GRCm39) N412S probably benign Het
Plk5 T C 10: 80,196,035 (GRCm39) S235P probably benign Het
Ppm1j A G 3: 104,692,802 (GRCm39) D437G probably damaging Het
Rab11fip1 T C 8: 27,633,262 (GRCm39) E1148G probably damaging Het
Rad9b T C 5: 122,489,754 (GRCm39) N43S probably damaging Het
Rc3h2 A C 2: 37,304,673 (GRCm39) I29S possibly damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Homo
Spdl1 T A 11: 34,713,830 (GRCm39) probably null Het
Spta1 A T 1: 174,071,608 (GRCm39) probably null Het
Stk32c A T 7: 138,702,880 (GRCm39) V53E probably damaging Het
Strc A T 2: 121,207,705 (GRCm39) F555L probably benign Het
Sugct T G 13: 17,497,815 (GRCm39) N286T possibly damaging Het
Swsap1 A T 9: 21,867,971 (GRCm39) probably null Het
Thbs2 T A 17: 14,894,426 (GRCm39) D807V possibly damaging Het
Tnrc6b A G 15: 80,763,974 (GRCm39) D492G probably damaging Het
Tonsl A T 15: 76,514,018 (GRCm39) S1184T possibly damaging Het
Tpp2 T A 1: 44,022,436 (GRCm39) Y945N probably benign Het
Usp54 G T 14: 20,610,937 (GRCm39) A1293D possibly damaging Het
Vps52 A T 17: 34,182,173 (GRCm39) K516* probably null Het
Zbtb17 T A 4: 141,189,110 (GRCm39) V10D probably damaging Het
Zfp607b T C 7: 27,403,464 (GRCm39) V640A probably benign Het
Other mutations in Luzp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Luzp1 APN 4 136,270,087 (GRCm39) missense probably damaging 1.00
IGL01766:Luzp1 APN 4 136,270,084 (GRCm39) missense possibly damaging 0.92
IGL01868:Luzp1 APN 4 136,270,048 (GRCm39) missense probably damaging 1.00
IGL03230:Luzp1 APN 4 136,270,189 (GRCm39) missense probably benign 0.02
FR4548:Luzp1 UTSW 4 136,270,499 (GRCm39) small insertion probably benign
FR4737:Luzp1 UTSW 4 136,270,507 (GRCm39) small insertion probably benign
R0106:Luzp1 UTSW 4 136,269,996 (GRCm39) missense probably damaging 0.97
R0674:Luzp1 UTSW 4 136,270,768 (GRCm39) missense possibly damaging 0.85
R0676:Luzp1 UTSW 4 136,269,996 (GRCm39) missense probably damaging 0.97
R1103:Luzp1 UTSW 4 136,268,041 (GRCm39) missense possibly damaging 0.87
R1541:Luzp1 UTSW 4 136,270,636 (GRCm39) missense probably damaging 1.00
R1812:Luzp1 UTSW 4 136,269,642 (GRCm39) missense probably benign 0.03
R3924:Luzp1 UTSW 4 136,270,168 (GRCm39) missense probably damaging 1.00
R4022:Luzp1 UTSW 4 136,269,504 (GRCm39) missense probably benign 0.02
R4449:Luzp1 UTSW 4 136,268,174 (GRCm39) missense probably damaging 1.00
R4976:Luzp1 UTSW 4 136,270,708 (GRCm39) missense possibly damaging 0.69
R5119:Luzp1 UTSW 4 136,270,708 (GRCm39) missense possibly damaging 0.69
R5411:Luzp1 UTSW 4 136,270,653 (GRCm39) missense possibly damaging 0.59
R5659:Luzp1 UTSW 4 136,269,787 (GRCm39) missense probably damaging 1.00
R5765:Luzp1 UTSW 4 136,268,340 (GRCm39) missense probably damaging 0.98
R5828:Luzp1 UTSW 4 136,267,993 (GRCm39) missense probably damaging 1.00
R6059:Luzp1 UTSW 4 136,268,791 (GRCm39) missense probably benign 0.35
R6147:Luzp1 UTSW 4 136,268,374 (GRCm39) missense probably damaging 1.00
R6181:Luzp1 UTSW 4 136,270,578 (GRCm39) missense probably benign 0.01
R6200:Luzp1 UTSW 4 136,268,577 (GRCm39) missense probably benign 0.12
R6368:Luzp1 UTSW 4 136,269,091 (GRCm39) missense probably benign 0.24
R6581:Luzp1 UTSW 4 136,267,942 (GRCm39) missense probably damaging 1.00
R6932:Luzp1 UTSW 4 136,268,124 (GRCm39) nonsense probably null
R6998:Luzp1 UTSW 4 136,270,755 (GRCm39) missense probably damaging 1.00
R7529:Luzp1 UTSW 4 136,268,243 (GRCm39) missense probably damaging 1.00
R7878:Luzp1 UTSW 4 136,269,163 (GRCm39) missense probably benign 0.00
R8077:Luzp1 UTSW 4 136,270,402 (GRCm39) missense probably damaging 1.00
R8154:Luzp1 UTSW 4 136,269,195 (GRCm39) missense possibly damaging 0.47
R8292:Luzp1 UTSW 4 136,269,764 (GRCm39) missense probably benign 0.01
R8511:Luzp1 UTSW 4 136,268,650 (GRCm39) missense probably damaging 1.00
R8922:Luzp1 UTSW 4 136,270,233 (GRCm39) missense probably damaging 1.00
R9094:Luzp1 UTSW 4 136,272,562 (GRCm39) missense probably damaging 1.00
R9402:Luzp1 UTSW 4 136,270,493 (GRCm39) missense probably damaging 1.00
R9704:Luzp1 UTSW 4 136,268,604 (GRCm39) missense probably benign 0.01
R9756:Luzp1 UTSW 4 136,270,048 (GRCm39) missense probably damaging 1.00
RF028:Luzp1 UTSW 4 136,270,507 (GRCm39) small insertion probably benign
RF033:Luzp1 UTSW 4 136,270,507 (GRCm39) small insertion probably benign
RF040:Luzp1 UTSW 4 136,270,507 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- TCCCCAAGAATATCTCTGCAGTTAC -3'
(R):5'- AGGCCTTTGTGTCTAGCCTG -3'

Sequencing Primer
(F):5'- GAATATCTCTGCAGTTACTGTGTAG -3'
(R):5'- AACTGGCCTTGGGTCCTTCAC -3'
Posted On 2018-07-24