Incidental Mutation 'IGL01868:Luzp1'
ID 178609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Luzp1
Ensembl Gene ENSMUSG00000001089
Gene Name leucine zipper protein 1
Synonyms 2700072H04Rik, Luzp
Accession Numbers
Essential gene? Probably essential (E-score: 0.869) question?
Stock # IGL01868
Quality Score
Status
Chromosome 4
Chromosomal Location 136197072-136282091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136270048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 757 (I757T)
Ref Sequence ENSEMBL: ENSMUSP00000130758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001116] [ENSMUST00000063021] [ENSMUST00000105849] [ENSMUST00000129230] [ENSMUST00000168936] [ENSMUST00000170102]
AlphaFold Q8R4U7
Predicted Effect probably damaging
Transcript: ENSMUST00000001116
AA Change: I757T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: I757T

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 damaging
Transcript: ENSMUST00000063021
AA Change: I757T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: I757T

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 damaging
Transcript: ENSMUST00000105849
AA Change: I757T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: I757T

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 damaging
Transcript: ENSMUST00000170102
AA Change: I757T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: I757T

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,547,218 (GRCm39) T569M possibly damaging Het
Aldh1l1 A T 6: 90,560,212 (GRCm39) K620* probably null Het
Amdhd2 G T 17: 24,376,504 (GRCm39) T346K probably damaging Het
Arhgap44 T C 11: 64,902,904 (GRCm39) D521G probably damaging Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Ccdc187 C A 2: 26,170,960 (GRCm39) R506L probably benign Het
Cd37 T C 7: 44,885,603 (GRCm39) Q128R probably benign Het
Cdh22 T A 2: 164,999,278 (GRCm39) M185L probably damaging Het
Cib2 A T 9: 54,455,759 (GRCm39) N68K probably damaging Het
Ddx46 C T 13: 55,787,683 (GRCm39) R96* probably null Het
Dnajc13 A T 9: 104,039,944 (GRCm39) H2050Q possibly damaging Het
Drgx C A 14: 32,330,334 (GRCm39) F150L probably damaging Het
Duox1 A G 2: 122,168,888 (GRCm39) H1172R probably benign Het
Eftud2 C T 11: 102,759,953 (GRCm39) V132I probably benign Het
Fcrl5 G A 3: 87,351,014 (GRCm39) D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Kat6a T C 8: 23,416,471 (GRCm39) F660L probably damaging Het
Lipo2 T C 19: 33,708,238 (GRCm39) M259V probably benign Het
Lrrcc1 T A 3: 14,619,417 (GRCm39) L90* probably null Het
Lsm1 G A 8: 26,283,821 (GRCm39) probably null Het
Micall1 A G 15: 78,999,260 (GRCm39) I76V probably benign Het
Mmp21 A T 7: 133,277,643 (GRCm39) D394E probably damaging Het
Mtfr1l T C 4: 134,258,018 (GRCm39) D68G probably null Het
Necab2 A G 8: 120,189,315 (GRCm39) S162G probably benign Het
Or11a4 A T 17: 37,536,043 (GRCm39) Q9L probably benign Het
Or4c100 T C 2: 88,356,059 (GRCm39) V44A possibly damaging Het
Or51b17 G A 7: 103,542,583 (GRCm39) R120* probably null Het
Or6n1 C T 1: 173,916,936 (GRCm39) T110I possibly damaging Het
Pde7b A T 10: 20,282,911 (GRCm39) C376* probably null Het
Pira12 G A 7: 3,900,174 (GRCm39) Q143* probably null Het
Plcb2 A G 2: 118,540,071 (GRCm39) L1074P probably damaging Het
Plcb2 G T 2: 118,541,868 (GRCm39) T914N probably benign Het
Prph C A 15: 98,954,224 (GRCm39) D207E probably damaging Het
Rbp4 C A 19: 38,112,968 (GRCm39) R37L probably damaging Het
Ryr3 T C 2: 112,633,503 (GRCm39) probably benign Het
Sardh T G 2: 27,117,159 (GRCm39) Q496P probably benign Het
Serpina1f T A 12: 103,659,704 (GRCm39) N193Y probably benign Het
Slc10a7 G A 8: 79,423,965 (GRCm39) probably null Het
Spg7 T C 8: 123,816,975 (GRCm39) probably null Het
Sphkap T C 1: 83,258,120 (GRCm39) probably null Het
Tas2r121 T A 6: 132,677,235 (GRCm39) I246L probably benign Het
Tbc1d9b T C 11: 50,052,460 (GRCm39) F889S probably damaging Het
Tcp10a T C 17: 7,597,263 (GRCm39) M140T possibly damaging Het
Tctn2 G A 5: 124,754,591 (GRCm39) noncoding transcript Het
Tfap2b G T 1: 19,284,506 (GRCm39) R138L probably damaging Het
Tnrc18 T C 5: 142,757,567 (GRCm39) T985A unknown Het
Treml1 G A 17: 48,673,035 (GRCm39) V211I probably benign Het
Ubr4 C T 4: 139,139,989 (GRCm39) Q1191* probably null Het
Vim G A 2: 13,583,249 (GRCm39) R217H possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r77 A G 7: 86,452,224 (GRCm39) D468G probably benign Het
Vmn2r98 G T 17: 19,286,548 (GRCm39) V349F probably benign Het
Vwa7 A T 17: 35,240,235 (GRCm39) E401V probably null Het
Zfp119b C A 17: 56,246,866 (GRCm39) V75L possibly damaging Het
Zfp287 C T 11: 62,606,083 (GRCm39) E275K 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
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
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
Posted On 2014-05-07