Incidental Mutation 'R4539:Neurl1a'
ID 333472
Institutional Source Beutler Lab
Gene Symbol Neurl1a
Ensembl Gene ENSMUSG00000006435
Gene Name neuralized E3 ubiquitin protein ligase 1A
Synonyms Neurl, Nlz, Rnf67, Neu1, 2410129E16Rik, Neur1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R4539 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 47167259-47247880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47245183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 458 (S458T)
Ref Sequence ENSEMBL: ENSMUSP00000107439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081619] [ENSMUST00000111800] [ENSMUST00000111807] [ENSMUST00000111808]
AlphaFold Q923S6
Predicted Effect probably benign
Transcript: ENSMUST00000081619
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617

DomainStartEndE-ValueType
PX 3 124 3.6e-32 SMART
SH3 169 224 3.24e-16 SMART
low complexity region 242 254 N/A INTRINSIC
SH3 269 324 6.49e-16 SMART
low complexity region 360 371 N/A INTRINSIC
SH3 450 505 4.49e-10 SMART
low complexity region 519 537 N/A INTRINSIC
low complexity region 632 652 N/A INTRINSIC
low complexity region 654 676 N/A INTRINSIC
low complexity region 685 709 N/A INTRINSIC
SH3 836 891 2.41e-10 SMART
SH3 1066 1124 3.85e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111800
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617

DomainStartEndE-ValueType
PX 3 124 3.6e-32 SMART
SH3 169 224 3.24e-16 SMART
SH3 241 296 6.49e-16 SMART
low complexity region 332 343 N/A INTRINSIC
SH3 422 477 4.49e-10 SMART
low complexity region 491 509 N/A INTRINSIC
low complexity region 604 624 N/A INTRINSIC
low complexity region 626 648 N/A INTRINSIC
low complexity region 657 681 N/A INTRINSIC
SH3 808 863 2.41e-10 SMART
SH3 1038 1096 3.85e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111807
AA Change: S441T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107438
Gene: ENSMUSG00000006435
AA Change: S441T

DomainStartEndE-ValueType
NEUZ 43 166 8.33e-66 SMART
Blast:NEUZ 186 213 1e-8 BLAST
low complexity region 241 253 N/A INTRINSIC
NEUZ 274 397 1.79e-56 SMART
low complexity region 440 456 N/A INTRINSIC
low complexity region 469 482 N/A INTRINSIC
RING 504 543 2.22e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111808
AA Change: S458T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107439
Gene: ENSMUSG00000006435
AA Change: S458T

DomainStartEndE-ValueType
NEUZ 60 183 8.33e-66 SMART
Blast:NEUZ 203 230 9e-9 BLAST
low complexity region 258 270 N/A INTRINSIC
NEUZ 291 414 1.79e-56 SMART
low complexity region 457 473 N/A INTRINSIC
low complexity region 486 499 N/A INTRINSIC
RING 521 560 2.22e-2 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Depending on the targeted mutation, homozygotes show a spectrum of conflicting phenotypes ranging from axonemal and spermatid abnormalities, male sterility and deficient lactation, to just a specific olfactory discrimination defect and ethanol hypersensitivity on motor coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,765,793 (GRCm39) T702A probably benign Het
Alms1 C T 6: 85,597,460 (GRCm39) T762I possibly damaging Het
Arhgef18 T C 8: 3,497,070 (GRCm39) M465T probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Camta1 T C 4: 151,169,269 (GRCm39) I161V probably benign Het
Cpeb4 G A 11: 31,823,206 (GRCm39) G307S probably damaging Het
Eps8l1 T C 7: 4,481,623 (GRCm39) V707A probably damaging Het
Espn G A 4: 152,218,665 (GRCm39) Q473* probably null Het
Fut9 A T 4: 25,619,793 (GRCm39) H340Q probably damaging Het
Gm11554 A T 11: 99,695,186 (GRCm39) probably benign Het
Hcar2 A G 5: 124,002,793 (GRCm39) F237L probably damaging Het
Hectd4 T A 5: 121,452,970 (GRCm39) C492* probably null Het
Lrrk2 C T 15: 91,613,345 (GRCm39) P823L possibly damaging Het
Luzp2 A T 7: 54,713,037 (GRCm39) Q91L probably damaging Het
Mapkapk5 T A 5: 121,675,218 (GRCm39) H117L possibly damaging Het
Myh14 A G 7: 44,276,478 (GRCm39) L1209P probably damaging Het
Myo3b T G 2: 69,869,491 (GRCm39) M1R probably null Het
Nacad A T 11: 6,550,677 (GRCm39) V838E possibly damaging Het
Pdzrn4 A G 15: 92,668,470 (GRCm39) D874G probably damaging Het
Phykpl A G 11: 51,484,915 (GRCm39) T292A probably damaging Het
Piezo2 A G 18: 63,219,699 (GRCm39) Y1003H probably damaging Het
Ppih A G 4: 119,177,656 (GRCm39) S6P probably benign Het
Qrich1 A G 9: 108,411,399 (GRCm39) E308G probably damaging Het
Setx A G 2: 29,069,760 (GRCm39) T2522A probably benign Het
Slc26a8 A T 17: 28,878,591 (GRCm39) M332K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sphkap A G 1: 83,255,514 (GRCm39) V745A probably benign Het
Swi5 T C 2: 32,169,092 (GRCm39) N118S possibly damaging Het
Tenm2 T C 11: 35,937,607 (GRCm39) T1689A probably damaging Het
Ttll9 C T 2: 152,836,011 (GRCm39) R252C probably damaging Het
Vars2 T A 17: 35,977,780 (GRCm39) E80V probably damaging Het
Zbtb39 G A 10: 127,578,061 (GRCm39) D212N possibly damaging Het
Zfp418 C A 7: 7,184,276 (GRCm39) Q80K probably benign Het
Zscan25 A G 5: 145,225,201 (GRCm39) D259G probably benign Het
Other mutations in Neurl1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03186:Neurl1a APN 19 47,228,916 (GRCm39) missense probably damaging 0.99
R1403:Neurl1a UTSW 19 47,242,150 (GRCm39) missense probably damaging 1.00
R1822:Neurl1a UTSW 19 47,245,898 (GRCm39) missense probably benign 0.16
R3040:Neurl1a UTSW 19 47,228,270 (GRCm39) missense probably benign 0.00
R3435:Neurl1a UTSW 19 47,245,964 (GRCm39) missense probably damaging 1.00
R3767:Neurl1a UTSW 19 47,228,328 (GRCm39) missense probably damaging 1.00
R3770:Neurl1a UTSW 19 47,228,328 (GRCm39) missense probably damaging 1.00
R3884:Neurl1a UTSW 19 47,241,885 (GRCm39) missense probably benign 0.30
R5108:Neurl1a UTSW 19 47,246,074 (GRCm39) missense probably damaging 1.00
R5644:Neurl1a UTSW 19 47,167,916 (GRCm39) missense probably benign
R6167:Neurl1a UTSW 19 47,228,367 (GRCm39) missense probably damaging 1.00
R7353:Neurl1a UTSW 19 47,229,099 (GRCm39) missense probably damaging 1.00
R8088:Neurl1a UTSW 19 47,245,873 (GRCm39) missense probably damaging 1.00
R8097:Neurl1a UTSW 19 47,245,958 (GRCm39) missense probably damaging 1.00
R8482:Neurl1a UTSW 19 47,241,719 (GRCm39) missense probably damaging 0.99
X0063:Neurl1a UTSW 19 47,242,113 (GRCm39) missense possibly damaging 0.77
Z1176:Neurl1a UTSW 19 47,228,312 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ACCTAGGGAAAGTTGGCTTGG -3'
(R):5'- CTCTCTATAGGATTTCGAGAGACGC -3'

Sequencing Primer
(F):5'- ATGATACTACCTCCTGACCTATAGG -3'
(R):5'- TTTCGAGAGACGCATTGACC -3'
Posted On 2015-08-18