Incidental Mutation 'R1493:Ninl'
ID 165531
Institutional Source Beutler Lab
Gene Symbol Ninl
Ensembl Gene ENSMUSG00000068115
Gene Name ninein-like
Synonyms LOC381388, 4930519N13Rik, LOC381387
MMRRC Submission 039544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1493 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 150776439-150851330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 150822015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 29 (D29A)
Ref Sequence ENSEMBL: ENSMUSP00000121872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109896] [ENSMUST00000128627]
AlphaFold Q6ZQ12
Predicted Effect probably damaging
Transcript: ENSMUST00000109896
AA Change: D29A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: D29A

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 noncoding transcript
Transcript: ENSMUST00000128564
Predicted Effect probably damaging
Transcript: ENSMUST00000128627
AA Change: D29A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121872
Gene: ENSMUSG00000068115
AA Change: D29A

DomainStartEndE-ValueType
SCOP:d1c07a_ 3 76 3e-7 SMART
PDB:2PMY|B 10 75 1e-6 PDB
Blast:EFh 12 40 4e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149979
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.9%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,767,544 (GRCm39) S14P probably damaging Het
Abca15 A T 7: 119,981,513 (GRCm39) D989V probably benign Het
Abcg8 T C 17: 85,004,107 (GRCm39) S472P probably damaging Het
Ablim2 T C 5: 35,966,605 (GRCm39) F178S probably damaging Het
Adprm A G 11: 66,932,702 (GRCm39) V69A possibly damaging Het
Ankrd27 C T 7: 35,307,790 (GRCm39) S343L probably benign Het
Arfgef3 A G 10: 18,506,627 (GRCm39) S833P probably damaging Het
Arhgap42 T G 9: 9,030,798 (GRCm39) E339D probably benign Het
Axdnd1 T A 1: 156,174,271 (GRCm39) M799L probably benign Het
Cars2 A T 8: 11,567,817 (GRCm39) probably null Het
Cd7 T C 11: 120,928,967 (GRCm39) T95A probably damaging Het
Cep290 A T 10: 100,398,043 (GRCm39) T2200S probably benign Het
Cep44 A G 8: 56,985,870 (GRCm39) S299P probably damaging Het
Cfap58 C T 19: 47,976,943 (GRCm39) H731Y probably damaging Het
Ehbp1 T A 11: 21,956,866 (GRCm39) E1204V probably damaging Het
Fgd5 A G 6: 91,964,612 (GRCm39) K124E probably benign Het
Folh1 T C 7: 86,410,938 (GRCm39) D268G probably damaging Het
Gm4559 A T 7: 141,828,050 (GRCm39) C17* probably null Het
Helz A G 11: 107,504,751 (GRCm39) I413V probably benign Het
Hexd A G 11: 121,112,093 (GRCm39) I438V probably benign Het
Hrh1 G A 6: 114,457,838 (GRCm39) G373D probably damaging Het
Hs3st5 G A 10: 36,708,870 (GRCm39) G135D probably damaging Het
Iqcf6 T C 9: 106,504,641 (GRCm39) Y102H probably benign Het
Kmt2a A T 9: 44,758,202 (GRCm39) S1124R probably damaging Het
Map3k5 A G 10: 19,904,859 (GRCm39) D387G probably damaging Het
Morc2a A G 11: 3,628,557 (GRCm39) N337D probably benign Het
Musk C T 4: 58,354,003 (GRCm39) A352V probably benign Het
Myef2l A G 3: 10,153,944 (GRCm39) K238E probably damaging Het
Nans G A 4: 46,500,761 (GRCm39) E218K probably damaging Het
Niban1 T A 1: 151,581,841 (GRCm39) V479D probably damaging Het
Nod1 A G 6: 54,921,041 (GRCm39) F426L probably damaging Het
Notch4 T A 17: 34,786,656 (GRCm39) C265* probably null Het
Nsd3 A G 8: 26,203,407 (GRCm39) D1307G probably benign Het
Or51h1 T C 7: 102,308,220 (GRCm39) L64P probably damaging Het
Or52e18 T A 7: 104,609,709 (GRCm39) T77S probably damaging Het
Orai3 G A 7: 127,373,077 (GRCm39) V193M possibly damaging Het
Prkag1 T C 15: 98,711,551 (GRCm39) Y271C probably benign Het
Rfc4 T C 16: 22,936,758 (GRCm39) I116V probably damaging Het
Ric1 T C 19: 29,557,249 (GRCm39) Y445H probably benign Het
Rnmt G A 18: 68,446,778 (GRCm39) D268N probably damaging Het
Rsph1 C T 17: 31,484,873 (GRCm39) G139D probably damaging Het
Sez6l2 C A 7: 126,560,984 (GRCm39) P483Q probably damaging Het
Sgo2b A G 8: 64,379,889 (GRCm39) L981P probably damaging Het
Shmt2 A G 10: 127,354,812 (GRCm39) probably null Het
Sorbs3 T C 14: 70,430,076 (GRCm39) T353A possibly damaging Het
Stk25 T C 1: 93,553,322 (GRCm39) T260A probably benign Het
Tasor A G 14: 27,171,926 (GRCm39) S425G probably damaging Het
Thap12 A G 7: 98,364,645 (GRCm39) H271R probably benign Het
Tmprss13 A G 9: 45,247,405 (GRCm39) T256A probably benign Het
Tpo A T 12: 30,181,808 (GRCm39) I29N possibly damaging Het
Trpc2 A T 7: 101,739,783 (GRCm39) N569I probably damaging Het
Unc13c T C 9: 73,546,350 (GRCm39) T1607A probably benign Het
Vldlr A G 19: 27,218,691 (GRCm39) N514S probably benign Het
Vps18 A G 2: 119,127,613 (GRCm39) Y812C probably damaging Het
Zfp692 A T 11: 58,204,866 (GRCm39) I409F probably damaging Het
Zfp735 G A 11: 73,601,305 (GRCm39) C83Y possibly damaging Het
Zic1 A G 9: 91,246,809 (GRCm39) S88P probably damaging Het
Other mutations in Ninl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Ninl APN 2 150,808,161 (GRCm39) missense probably damaging 0.98
IGL01697:Ninl APN 2 150,781,867 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTGCCGGAGTTTCAGTAAGGAGAAG -3'
(R):5'- GGGCTAAGAAACCTAGCTAACCTGC -3'

Sequencing Primer
(F):5'- acctaaccaaaccaaaccaaac -3'
(R):5'- AACCTAGCTAACCTGCTACTTCG -3'
Posted On 2014-03-28