Incidental Mutation 'R6181:Luzp1'
ID 488068
Institutional Source Beutler Lab
Gene Symbol Luzp1
Ensembl Gene ENSMUSG00000001089
Gene Name leucine zipper protein 1
Synonyms 2700072H04Rik, Luzp
MMRRC Submission 044323-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.869) question?
Stock # R6181 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 136197072-136282091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136270578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 934 (T934A)
Ref Sequence ENSEMBL: ENSMUSP00000130758 (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: T934A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: T934A

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: T934A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: T934A

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: T934A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: T934A

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 probably benign
Transcript: ENSMUST00000168936
Predicted Effect probably benign
Transcript: ENSMUST00000170102
AA Change: T934A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: T934A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b7 A G 6: 34,392,313 (GRCm39) H42R possibly damaging Het
Ankrd26 T A 6: 118,525,838 (GRCm39) H369L probably benign Het
Ano7 T C 1: 93,323,081 (GRCm39) S474P probably damaging Het
Aox3 T C 1: 58,198,105 (GRCm39) V639A probably benign Het
Arhgef2 T A 3: 88,542,927 (GRCm39) V358E probably damaging Het
Brpf3 A G 17: 29,029,555 (GRCm39) Y505C probably damaging Het
Casd1 A G 6: 4,619,331 (GRCm39) T120A probably damaging Het
Ccdc121 A G 5: 31,645,399 (GRCm39) E384G probably damaging Het
Cd200l1 A G 16: 45,238,260 (GRCm39) S185P probably benign Het
Clasp1 T G 1: 118,347,547 (GRCm39) S32A probably benign Het
Clca3a2 A T 3: 144,796,469 (GRCm39) L246* probably null Het
Clcn7 A G 17: 25,370,702 (GRCm39) I353V possibly damaging Het
Cluap1 T A 16: 3,751,608 (GRCm39) D322E probably benign Het
Cmtm4 A C 8: 105,082,997 (GRCm39) probably null Het
Cntnap2 C T 6: 46,736,742 (GRCm39) P723S probably damaging Het
Col6a3 T A 1: 90,744,096 (GRCm39) T84S possibly damaging Het
Corin A G 5: 72,529,439 (GRCm39) probably null Het
Cubn G A 2: 13,354,687 (GRCm39) T1903I probably benign Het
Cyp27b1 A C 10: 126,886,279 (GRCm39) D320A probably damaging Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Dennd2a T C 6: 39,462,554 (GRCm39) K652R probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock1 T A 7: 134,760,251 (GRCm39) M1638K probably damaging Het
Efcab3 T C 11: 104,722,159 (GRCm39) S1924P probably benign Het
Eya1 T C 1: 14,373,096 (GRCm39) S8G probably damaging Het
Fam193a T A 5: 34,600,884 (GRCm39) probably null Het
Fbxw11 T A 11: 32,692,575 (GRCm39) N515K probably benign Het
Gm6408 T C 5: 146,420,582 (GRCm39) V154A possibly damaging Het
Guf1 A G 5: 69,719,059 (GRCm39) Y235C probably damaging Het
Hnrnpul2 C T 19: 8,800,596 (GRCm39) S224L possibly damaging Het
Igkv8-19 T A 6: 70,317,968 (GRCm39) D86V probably damaging Het
Iqcf1 A T 9: 106,379,174 (GRCm39) D61V probably damaging Het
Lrp5 T C 19: 3,678,427 (GRCm39) D476G probably damaging Het
Mboat7 A T 7: 3,686,884 (GRCm39) Y319N probably benign Het
Mdn1 A G 4: 32,715,953 (GRCm39) E2045G probably damaging Het
Mfsd14b T C 13: 65,260,398 (GRCm39) R12G probably benign Het
Micall2 T A 5: 139,702,506 (GRCm39) T246S probably benign Het
Npepps A G 11: 97,132,830 (GRCm39) V299A probably damaging Het
Or2y11 T A 11: 49,443,120 (GRCm39) V182D probably damaging Het
P2ry13 A G 3: 59,117,328 (GRCm39) V150A probably benign Het
Pdc T C 1: 150,209,021 (GRCm39) I168T probably damaging Het
Pde8b C T 13: 95,223,316 (GRCm39) E313K probably benign Het
Pgap1 C T 1: 54,551,936 (GRCm39) G499R probably benign Het
Ppp1r15b T A 1: 133,060,261 (GRCm39) C259* probably null Het
Pramel21 T A 4: 143,342,828 (GRCm39) probably null Het
Ptgs1 A G 2: 36,141,131 (GRCm39) E526G probably damaging Het
Ptpn21 A G 12: 98,666,258 (GRCm39) L271P probably damaging Het
Rbm47 T C 5: 66,183,833 (GRCm39) T257A possibly damaging Het
Rfc3 C T 5: 151,570,985 (GRCm39) D104N probably damaging Het
Rhobtb3 A G 13: 76,058,808 (GRCm39) I330T probably benign Het
Rnf207 T C 4: 152,393,305 (GRCm39) T570A probably benign Het
Rusf1 A G 7: 127,896,632 (GRCm39) probably null Het
Sbpl T C 17: 24,172,466 (GRCm39) H151R probably damaging Het
Sstr3 T C 15: 78,423,661 (GRCm39) D362G probably benign Het
St7 T C 6: 17,694,363 (GRCm39) probably null Het
Tasor T A 14: 27,194,235 (GRCm39) M1145K probably benign Het
Tdrd6 A G 17: 43,939,788 (GRCm39) V420A probably damaging Het
Tet2 C A 3: 133,193,520 (GRCm39) E305* probably null Het
Tmem209 A T 6: 30,505,970 (GRCm39) V68E probably damaging Het
Tmod4 A T 3: 95,035,118 (GRCm39) I208F probably damaging Het
Tpo G A 12: 30,181,884 (GRCm39) L4F probably benign Het
Urb1 T C 16: 90,575,982 (GRCm39) H858R probably benign Het
Utrn A G 10: 12,615,200 (GRCm39) W324R probably damaging Het
V1rd19 T A 7: 23,702,640 (GRCm39) F35L possibly damaging Het
Vmn1r170 C A 7: 23,305,692 (GRCm39) N31K probably damaging Het
Vmn1r192 T A 13: 22,371,452 (GRCm39) Y256F probably damaging Het
Vmn2r124 T C 17: 18,294,019 (GRCm39) I702T possibly damaging Het
Vmn2r96 G A 17: 18,804,126 (GRCm39) A459T probably benign Het
Vwf G T 6: 125,543,109 (GRCm39) A132S probably damaging Het
Zfp202 G A 9: 40,118,638 (GRCm39) G17E probably damaging Het
Zfp608 A G 18: 55,028,700 (GRCm39) S1238P possibly damaging Het
Zfp804a G T 2: 82,087,486 (GRCm39) M438I probably damaging Het
Zgrf1 G A 3: 127,381,590 (GRCm39) G246S probably damaging Het
Zwint T C 10: 72,492,431 (GRCm39) V115A 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
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
R6695:Luzp1 UTSW 4 136,272,609 (GRCm39) missense possibly damaging 0.83
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'- TGCAGCTCACAGAAGCTGAAAG -3'
(R):5'- TGAGGCTACTTTGGGTCCTC -3'

Sequencing Primer
(F):5'- TGGGTCTCCAAAGAATAGAGC -3'
(R):5'- ACTTTGGGTCCTCCTCGGG -3'
Posted On 2017-10-10