Incidental Mutation 'R1541:Luzp1'
ID 171721
Institutional Source Beutler Lab
Gene Symbol Luzp1
Ensembl Gene ENSMUSG00000001089
Gene Name leucine zipper protein 1
Synonyms 2700072H04Rik, Luzp
MMRRC Submission 039580-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.869) question?
Stock # R1541 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 136197072-136282091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136270636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 953 (D953G)
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: D953G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: D953G

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: D953G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: D953G

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: D953G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: D953G

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: D953G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: D953G

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: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A G 14: 103,286,769 (GRCm39) D24G probably damaging Het
Angptl2 G A 2: 33,136,177 (GRCm39) R454H probably benign Het
Atat1 T A 17: 36,215,223 (GRCm39) N181I probably damaging Het
Atp6v0d2 A C 4: 19,910,645 (GRCm39) F82V probably damaging Het
Calhm4 T C 10: 33,917,659 (GRCm39) H264R probably benign Het
Casp3 A G 8: 47,087,369 (GRCm39) I105M probably benign Het
Ccdc33 T A 9: 58,024,749 (GRCm39) D159V probably damaging Het
Cd163 A C 6: 124,304,920 (GRCm39) D1099A probably benign Het
Cep128 A T 12: 91,315,555 (GRCm39) S110R probably damaging Het
Cfap43 A T 19: 47,752,291 (GRCm39) probably null Het
Cfap58 T C 19: 47,971,969 (GRCm39) I633T probably damaging Het
Clvs1 A G 4: 9,281,814 (GRCm39) H86R probably benign Het
Comt T C 16: 18,230,565 (GRCm39) K48R probably benign Het
Crip2 T C 12: 113,108,586 (GRCm39) V64A possibly damaging Het
Cstdc5 T A 16: 36,187,863 (GRCm39) M1L probably damaging Het
Cwf19l2 T A 9: 3,456,760 (GRCm39) S698T probably damaging Het
Dis3l T C 9: 64,214,771 (GRCm39) I933V probably benign Het
Dnah8 C A 17: 30,966,221 (GRCm39) N2470K probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Dtx1 T A 5: 120,848,411 (GRCm39) probably benign Het
Dzip1 G A 14: 119,116,890 (GRCm39) S782L probably damaging Het
Ece1 T A 4: 137,675,971 (GRCm39) probably null Het
Erich1 A G 8: 14,080,688 (GRCm39) I277T probably damaging Het
Gbp4 T A 5: 105,266,275 (GRCm39) M589L probably benign Het
Grip1 T C 10: 119,836,448 (GRCm39) I440T probably damaging Het
Helz C T 11: 107,560,874 (GRCm39) S1311L probably benign Het
Herc2 A T 7: 55,785,405 (GRCm39) I1552F probably damaging Het
Kif13a T C 13: 46,962,689 (GRCm39) T459A probably benign Het
Knop1 G A 7: 118,455,009 (GRCm39) probably benign Het
Llgl2 C A 11: 115,743,947 (GRCm39) T758K probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc71 T C 3: 87,649,148 (GRCm39) D340G possibly damaging Het
Mst1r T C 9: 107,794,562 (GRCm39) V1247A probably damaging Het
Ncoa4 A T 14: 31,898,845 (GRCm39) K555M probably damaging Het
Ncoa6 A T 2: 155,257,224 (GRCm39) L773Q probably benign Het
Ndc1 C T 4: 107,228,485 (GRCm39) Q70* probably null Het
Nfe2l3 C T 6: 51,434,585 (GRCm39) L382F probably damaging Het
Nlrp4b C A 7: 10,458,979 (GRCm39) T399N possibly damaging Het
Nsmce2 T A 15: 59,473,234 (GRCm39) D250E probably damaging Het
Nudt14 A T 12: 112,898,548 (GRCm39) L184Q probably damaging Het
Ogdhl G A 14: 32,062,624 (GRCm39) R570H possibly damaging Het
Or5p56 T C 7: 107,590,048 (GRCm39) F159L probably benign Het
Pira13 T C 7: 3,819,988 (GRCm39) D525G probably damaging Het
Plag1 A G 4: 3,904,085 (GRCm39) S369P probably benign Het
Ranbp2 A T 10: 58,318,916 (GRCm39) T2476S possibly damaging Het
Rnmt T C 18: 68,440,853 (GRCm39) L172P probably damaging Het
Sec24a T A 11: 51,634,623 (GRCm39) H101L probably benign Het
Sirpd T A 3: 15,385,744 (GRCm39) T53S possibly damaging Het
Srm A G 4: 148,677,881 (GRCm39) D173G probably damaging Het
Srp54b A G 12: 55,302,844 (GRCm39) D380G probably benign Het
Svs5 C T 2: 164,078,929 (GRCm39) R326Q possibly damaging Het
Tent4b T C 8: 88,972,227 (GRCm39) V222A probably damaging Het
Tfap2b C T 1: 19,304,294 (GRCm39) T350M probably damaging Het
Tie1 A T 4: 118,341,070 (GRCm39) C304S probably damaging Het
Tsc2 G T 17: 24,850,950 (GRCm39) T36N probably damaging Het
Wdhd1 A T 14: 47,505,649 (GRCm39) Y274* probably null Het
Wdr37 T C 13: 8,870,574 (GRCm39) T373A probably benign Het
Xirp2 A T 2: 67,342,634 (GRCm39) N1625I possibly damaging Het
Ythdf1 A C 2: 180,560,936 (GRCm39) S35A probably damaging Het
Zfp462 A G 4: 55,008,928 (GRCm39) N298S possibly damaging Het
Zfp541 T A 7: 15,812,437 (GRCm39) D363E probably benign Het
Zgpat A G 2: 181,020,658 (GRCm39) D277G probably benign Het
Znfx1 A T 2: 166,898,110 (GRCm39) N271K probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- AGCCATAGTGCCTCTTCAGACAGC -3'
(R):5'- AAGAAGAACCTGTTCACTGCCATCC -3'

Sequencing Primer
(F):5'- CAGACACATCACAGTGCGG -3'
(R):5'- AGTGAGACTCACCATGCTTG -3'
Posted On 2014-04-13