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 LOC381387, LOC381388, 4930519N13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01697
Quality Score
Status
Chromosome 2
Chromosomal Location 150934519-151039382 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 150939947 bp (GRCm38)
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: 156,119,156 (GRCm38) probably benign Het
Arid2 A C 15: 96,361,572 (GRCm38) probably null Het
Cadm1 C A 9: 47,850,324 (GRCm38) D435E probably damaging Het
Dagla A G 19: 10,271,198 (GRCm38) F33L probably benign Het
Edrf1 A G 7: 133,643,730 (GRCm38) H199R probably benign Het
F5 T A 1: 164,194,052 (GRCm38) N1365K probably benign Het
Fam205c T A 4: 42,874,163 (GRCm38) M2L probably benign Het
Gipc2 T G 3: 152,137,608 (GRCm38) I131L probably benign Het
Gpc1 C T 1: 92,858,410 (GRCm38) S507F possibly damaging Het
Grid1 A G 14: 35,309,257 (GRCm38) D269G probably benign Het
Ighv12-3 A T 12: 114,366,953 (GRCm38) M1K probably null Het
Kif5b T C 18: 6,226,871 (GRCm38) H129R possibly damaging Het
Lipo3 A T 19: 33,559,565 (GRCm38) C252S probably damaging Het
Mast4 A C 13: 102,767,893 (GRCm38) N645K probably damaging Het
Megf9 T A 4: 70,433,472 (GRCm38) T471S possibly damaging Het
Mmrn1 A G 6: 60,976,493 (GRCm38) D586G possibly damaging Het
Olfr1446 T A 19: 12,890,467 (GRCm38) T37S probably benign Het
Olfr45 T C 7: 140,691,652 (GRCm38) V249A possibly damaging Het
Olfr765 C A 10: 129,046,502 (GRCm38) C187F probably damaging Het
Oog2 T A 4: 144,195,184 (GRCm38) N221K possibly damaging Het
Pik3ap1 G A 19: 41,324,579 (GRCm38) A365V probably damaging Het
Ppwd1 T C 13: 104,220,464 (GRCm38) E181G probably benign Het
Scaf11 A C 15: 96,423,623 (GRCm38) probably benign Het
Skint7 T A 4: 111,980,457 (GRCm38) probably benign Het
Sox14 T C 9: 99,875,663 (GRCm38) I8V probably benign Het
Stim1 A T 7: 102,425,969 (GRCm38) probably benign Het
Ttc37 C T 13: 76,128,733 (GRCm38) L479F probably benign Het
Ttll3 T C 6: 113,399,729 (GRCm38) S357P probably benign Het
Vmn1r178 T A 7: 23,893,689 (GRCm38) I54N probably damaging Het
Zdhhc2 T C 8: 40,467,419 (GRCm38) probably benign Het
Other mutations in Ninl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ninl APN 2 150,966,241 (GRCm38) missense probably damaging 0.98
IGL01756:Ninl APN 2 150,979,516 (GRCm38) missense probably damaging 1.00
IGL01925:Ninl APN 2 150,971,059 (GRCm38) missense probably damaging 1.00
IGL02341:Ninl APN 2 150,944,605 (GRCm38) nonsense probably null
IGL02838:Ninl APN 2 150,955,711 (GRCm38) splice site probably null
IGL02868:Ninl APN 2 150,937,054 (GRCm38) missense probably benign
IGL03116:Ninl APN 2 150,964,219 (GRCm38) missense probably damaging 1.00
IGL03396:Ninl APN 2 150,966,212 (GRCm38) missense possibly damaging 0.88
R0117:Ninl UTSW 2 150,937,673 (GRCm38) missense probably damaging 0.98
R0685:Ninl UTSW 2 150,939,855 (GRCm38) missense possibly damaging 0.73
R0928:Ninl UTSW 2 150,963,475 (GRCm38) missense probably damaging 0.99
R1051:Ninl UTSW 2 150,970,126 (GRCm38) missense probably damaging 1.00
R1441:Ninl UTSW 2 150,971,124 (GRCm38) missense probably benign 0.10
R1493:Ninl UTSW 2 150,980,095 (GRCm38) missense probably damaging 1.00
R1499:Ninl UTSW 2 150,980,176 (GRCm38) missense possibly damaging 0.70
R1539:Ninl UTSW 2 150,975,947 (GRCm38) missense probably damaging 1.00
R1658:Ninl UTSW 2 150,964,159 (GRCm38) missense probably damaging 1.00
R2038:Ninl UTSW 2 150,975,843 (GRCm38) nonsense probably null
R2156:Ninl UTSW 2 150,944,583 (GRCm38) missense probably damaging 1.00
R2232:Ninl UTSW 2 150,950,050 (GRCm38) missense probably benign 0.00
R2373:Ninl UTSW 2 150,980,117 (GRCm38) missense probably damaging 1.00
R3743:Ninl UTSW 2 150,950,248 (GRCm38) missense probably benign 0.01
R3906:Ninl UTSW 2 150,980,119 (GRCm38) missense probably damaging 1.00
R3950:Ninl UTSW 2 150,952,488 (GRCm38) missense possibly damaging 0.90
R4283:Ninl UTSW 2 150,953,416 (GRCm38) unclassified probably benign
R4798:Ninl UTSW 2 150,959,881 (GRCm38) nonsense probably null
R4963:Ninl UTSW 2 150,939,909 (GRCm38) missense probably benign 0.04
R4998:Ninl UTSW 2 150,953,364 (GRCm38) missense probably damaging 1.00
R5343:Ninl UTSW 2 150,971,190 (GRCm38) missense probably benign 0.01
R5810:Ninl UTSW 2 150,950,168 (GRCm38) missense probably benign 0.31
R5825:Ninl UTSW 2 150,940,724 (GRCm38) missense probably damaging 1.00
R6436:Ninl UTSW 2 150,966,178 (GRCm38) missense probably damaging 1.00
R6728:Ninl UTSW 2 150,975,857 (GRCm38) nonsense probably null
R6734:Ninl UTSW 2 150,945,083 (GRCm38) critical splice donor site probably null
R6997:Ninl UTSW 2 150,966,225 (GRCm38) missense probably benign 0.08
R7135:Ninl UTSW 2 150,955,604 (GRCm38) missense probably benign 0.00
R7157:Ninl UTSW 2 150,949,343 (GRCm38) missense possibly damaging 0.63
R7315:Ninl UTSW 2 150,950,050 (GRCm38) missense probably benign 0.00
R7840:Ninl UTSW 2 150,966,096 (GRCm38) missense probably benign 0.00
R8134:Ninl UTSW 2 150,950,314 (GRCm38) missense probably benign 0.01
R8319:Ninl UTSW 2 150,959,907 (GRCm38) missense probably damaging 1.00
R8802:Ninl UTSW 2 150,935,252 (GRCm38) missense probably damaging 1.00
R8997:Ninl UTSW 2 150,959,896 (GRCm38) missense probably damaging 0.98
R9231:Ninl UTSW 2 150,950,209 (GRCm38) missense probably benign
R9465:Ninl UTSW 2 150,940,806 (GRCm38) missense possibly damaging 0.83
R9474:Ninl UTSW 2 150,940,806 (GRCm38) missense probably benign 0.27
R9571:Ninl UTSW 2 150,949,883 (GRCm38) missense probably benign
R9789:Ninl UTSW 2 150,949,781 (GRCm38) missense probably benign 0.05
X0062:Ninl UTSW 2 150,970,046 (GRCm38) missense probably damaging 1.00
Z1177:Ninl UTSW 2 150,953,398 (GRCm38) missense probably damaging 1.00
Posted On 2014-01-21