Incidental Mutation 'IGL03186:Neurl1a'
ID 412483
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03186
Quality Score
Status
Chromosome 19
Chromosomal Location 47167259-47247880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47228916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 152 (F152Y)
Ref Sequence ENSEMBL: ENSMUSP00000107439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111807] [ENSMUST00000111808]
AlphaFold Q923S6
Predicted Effect probably benign
Transcript: ENSMUST00000111807
AA Change: F135Y

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107438
Gene: ENSMUSG00000006435
AA Change: F135Y

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: F152Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107439
Gene: ENSMUSG00000006435
AA Change: F152Y

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,581,737 (GRCm39) I4769T possibly damaging Het
Ankrd53 T C 6: 83,740,695 (GRCm39) I106T probably benign Het
Arsi A G 18: 61,050,545 (GRCm39) D476G probably damaging Het
Atp2c1 T C 9: 105,290,329 (GRCm39) K760E probably benign Het
C030048H21Rik A G 2: 26,143,350 (GRCm39) probably null Het
Cep152 A G 2: 125,405,895 (GRCm39) S1546P probably benign Het
Cimap1c T G 9: 56,756,356 (GRCm39) N220T probably benign Het
Clock T C 5: 76,390,929 (GRCm39) H291R probably damaging Het
Fkbp4 T C 6: 128,411,763 (GRCm39) T109A probably benign Het
Igkv1-117 T C 6: 68,098,783 (GRCm39) Y111H probably damaging Het
Kif20b A T 19: 34,912,344 (GRCm39) E250V probably benign Het
Mef2c A G 13: 83,800,987 (GRCm39) N229S probably benign Het
Ndufa9 A G 6: 126,821,855 (GRCm39) V36A possibly damaging Het
Neb T C 2: 52,100,671 (GRCm39) probably benign Het
Neb G A 2: 52,059,100 (GRCm39) H213Y probably damaging Het
Nlrp14 G T 7: 106,785,877 (GRCm39) C651F probably damaging Het
Or4a2 T A 2: 89,248,188 (GRCm39) T190S probably damaging Het
Or5ac20 A T 16: 59,104,266 (GRCm39) V198E probably damaging Het
Or7g21 T A 9: 19,033,200 (GRCm39) D316E probably benign Het
Pex2 C A 3: 5,626,777 (GRCm39) A11S probably benign Het
Pitpna C A 11: 75,503,076 (GRCm39) H137N probably benign Het
Pole T G 5: 110,447,786 (GRCm39) probably null Het
Rft1 T A 14: 30,380,306 (GRCm39) I35N possibly damaging Het
Serpina1e T C 12: 103,915,462 (GRCm39) H248R probably benign Het
Sgsm1 C T 5: 113,432,887 (GRCm39) A254T probably benign Het
St3gal3 G A 4: 117,797,251 (GRCm39) P331S possibly damaging Het
Ttn T A 2: 76,602,106 (GRCm39) K16773* probably null Het
Zfp687 T C 3: 94,918,405 (GRCm39) T456A probably benign Het
Zranb1 A G 7: 132,551,932 (GRCm39) I220M possibly damaging Het
Other mutations in Neurl1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4539:Neurl1a UTSW 19 47,245,183 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02