Incidental Mutation 'IGL01697:Ninl'
ID 104296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ninl
Ensembl Gene ENSMUSG00000068115
Gene Name ninein-like
Synonyms LOC381388, 4930519N13Rik, LOC381387
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01697
Quality Score
Status
Chromosome 2
Chromosomal Location 150776439-150851330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 150781867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1206 (L1206Q)
Ref Sequence ENSEMBL: ENSMUSP00000105522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109896] [ENSMUST00000124135]
AlphaFold Q6ZQ12
Predicted Effect probably damaging
Transcript: ENSMUST00000109896
AA Change: L1206Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: L1206Q

DomainStartEndE-ValueType
EFh 12 40 6.56e0 SMART
low complexity region 76 93 N/A INTRINSIC
EFh 201 229 4.45e1 SMART
EFh 238 266 8.98e-4 SMART
low complexity region 295 306 N/A INTRINSIC
coiled coil region 381 423 N/A INTRINSIC
coiled coil region 461 517 N/A INTRINSIC
coiled coil region 541 584 N/A INTRINSIC
coiled coil region 620 699 N/A INTRINSIC
coiled coil region 728 751 N/A INTRINSIC
coiled coil region 835 863 N/A INTRINSIC
coiled coil region 1058 1334 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000124135
AA Change: L221Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122069
Gene: ENSMUSG00000068115
AA Change: L221Q

DomainStartEndE-ValueType
coiled coil region 16 61 N/A INTRINSIC
coiled coil region 92 266 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150036
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit bone-marrow myeloid hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T A 4: 156,203,613 (GRCm39) probably benign Het
Arid2 A C 15: 96,259,453 (GRCm39) probably null Het
Cadm1 C A 9: 47,761,622 (GRCm39) D435E probably damaging Het
Dagla A G 19: 10,248,562 (GRCm39) F33L probably benign Het
Edrf1 A G 7: 133,245,459 (GRCm39) H199R probably benign Het
F5 T A 1: 164,021,621 (GRCm39) N1365K probably benign Het
Gipc2 T G 3: 151,843,245 (GRCm39) I131L probably benign Het
Gpc1 C T 1: 92,786,132 (GRCm39) S507F possibly damaging Het
Grid1 A G 14: 35,031,214 (GRCm39) D269G probably benign Het
Ighv12-3 A T 12: 114,330,573 (GRCm39) M1K probably null Het
Kif5b T C 18: 6,226,871 (GRCm39) H129R possibly damaging Het
Lipo3 A T 19: 33,536,965 (GRCm39) C252S probably damaging Het
Mast4 A C 13: 102,904,401 (GRCm39) N645K probably damaging Het
Megf9 T A 4: 70,351,709 (GRCm39) T471S possibly damaging Het
Mmrn1 A G 6: 60,953,477 (GRCm39) D586G possibly damaging Het
Oog2 T A 4: 143,921,754 (GRCm39) N221K possibly damaging Het
Or13a17 T C 7: 140,271,565 (GRCm39) V249A possibly damaging Het
Or5b96 T A 19: 12,867,831 (GRCm39) T37S probably benign Het
Or6c8b C A 10: 128,882,371 (GRCm39) C187F probably damaging Het
Pik3ap1 G A 19: 41,313,018 (GRCm39) A365V probably damaging Het
Ppwd1 T C 13: 104,356,972 (GRCm39) E181G probably benign Het
Scaf11 A C 15: 96,321,504 (GRCm39) probably benign Het
Skic3 C T 13: 76,276,852 (GRCm39) L479F probably benign Het
Skint7 T A 4: 111,837,654 (GRCm39) probably benign Het
Sox14 T C 9: 99,757,716 (GRCm39) I8V probably benign Het
Spata31f3 T A 4: 42,874,163 (GRCm39) M2L probably benign Het
Stim1 A T 7: 102,075,176 (GRCm39) probably benign Het
Ttll3 T C 6: 113,376,690 (GRCm39) S357P probably benign Het
Vmn1r178 T A 7: 23,593,114 (GRCm39) I54N probably damaging Het
Zdhhc2 T C 8: 40,920,460 (GRCm39) probably benign Het
Other mutations in Ninl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ninl APN 2 150,808,161 (GRCm39) missense probably damaging 0.98
IGL01756:Ninl APN 2 150,821,436 (GRCm39) missense probably damaging 1.00
IGL01925:Ninl APN 2 150,812,979 (GRCm39) missense probably damaging 1.00
IGL02341:Ninl APN 2 150,786,525 (GRCm39) nonsense probably null
IGL02838:Ninl APN 2 150,797,631 (GRCm39) splice site probably null
IGL02868:Ninl APN 2 150,778,974 (GRCm39) missense probably benign
IGL03116:Ninl APN 2 150,806,139 (GRCm39) missense probably damaging 1.00
IGL03396:Ninl APN 2 150,808,132 (GRCm39) missense possibly damaging 0.88
R0117:Ninl UTSW 2 150,779,593 (GRCm39) missense probably damaging 0.98
R0685:Ninl UTSW 2 150,781,775 (GRCm39) missense possibly damaging 0.73
R0928:Ninl UTSW 2 150,805,395 (GRCm39) missense probably damaging 0.99
R1051:Ninl UTSW 2 150,812,046 (GRCm39) missense probably damaging 1.00
R1441:Ninl UTSW 2 150,813,044 (GRCm39) missense probably benign 0.10
R1493:Ninl UTSW 2 150,822,015 (GRCm39) missense probably damaging 1.00
R1499:Ninl UTSW 2 150,822,096 (GRCm39) missense possibly damaging 0.70
R1539:Ninl UTSW 2 150,817,867 (GRCm39) missense probably damaging 1.00
R1658:Ninl UTSW 2 150,806,079 (GRCm39) missense probably damaging 1.00
R2038:Ninl UTSW 2 150,817,763 (GRCm39) nonsense probably null
R2156:Ninl UTSW 2 150,786,503 (GRCm39) missense probably damaging 1.00
R2232:Ninl UTSW 2 150,791,970 (GRCm39) missense probably benign 0.00
R2373:Ninl UTSW 2 150,822,037 (GRCm39) missense probably damaging 1.00
R3743:Ninl UTSW 2 150,792,168 (GRCm39) missense probably benign 0.01
R3906:Ninl UTSW 2 150,822,039 (GRCm39) missense probably damaging 1.00
R3950:Ninl UTSW 2 150,794,408 (GRCm39) missense possibly damaging 0.90
R4283:Ninl UTSW 2 150,795,336 (GRCm39) unclassified probably benign
R4798:Ninl UTSW 2 150,801,801 (GRCm39) nonsense probably null
R4963:Ninl UTSW 2 150,781,829 (GRCm39) missense probably benign 0.04
R4998:Ninl UTSW 2 150,795,284 (GRCm39) missense probably damaging 1.00
R5343:Ninl UTSW 2 150,813,110 (GRCm39) missense probably benign 0.01
R5810:Ninl UTSW 2 150,792,088 (GRCm39) missense probably benign 0.31
R5825:Ninl UTSW 2 150,782,644 (GRCm39) missense probably damaging 1.00
R6436:Ninl UTSW 2 150,808,098 (GRCm39) missense probably damaging 1.00
R6728:Ninl UTSW 2 150,817,777 (GRCm39) nonsense probably null
R6734:Ninl UTSW 2 150,787,003 (GRCm39) critical splice donor site probably null
R6997:Ninl UTSW 2 150,808,145 (GRCm39) missense probably benign 0.08
R7135:Ninl UTSW 2 150,797,524 (GRCm39) missense probably benign 0.00
R7157:Ninl UTSW 2 150,791,263 (GRCm39) missense possibly damaging 0.63
R7315:Ninl UTSW 2 150,791,970 (GRCm39) missense probably benign 0.00
R7840:Ninl UTSW 2 150,808,016 (GRCm39) missense probably benign 0.00
R8134:Ninl UTSW 2 150,792,234 (GRCm39) missense probably benign 0.01
R8319:Ninl UTSW 2 150,801,827 (GRCm39) missense probably damaging 1.00
R8802:Ninl UTSW 2 150,777,172 (GRCm39) missense probably damaging 1.00
R8997:Ninl UTSW 2 150,801,816 (GRCm39) missense probably damaging 0.98
R9231:Ninl UTSW 2 150,792,129 (GRCm39) missense probably benign
R9465:Ninl UTSW 2 150,782,726 (GRCm39) missense possibly damaging 0.83
R9474:Ninl UTSW 2 150,782,726 (GRCm39) missense probably benign 0.27
R9571:Ninl UTSW 2 150,791,803 (GRCm39) missense probably benign
R9789:Ninl UTSW 2 150,791,701 (GRCm39) missense probably benign 0.05
X0062:Ninl UTSW 2 150,811,966 (GRCm39) missense probably damaging 1.00
Z1177:Ninl UTSW 2 150,795,318 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21