Incidental Mutation 'R2373:Ninl'
ID 248195
Institutional Source Beutler Lab
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 # R2373 (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 150822037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 22 (T22P)
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: T22P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: T22P

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: T22P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121872
Gene: ENSMUSG00000068115
AA Change: T22P

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.7%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
9130023H24Rik A T 7: 127,836,487 (GRCm39) D35E probably benign Het
9330159F19Rik A G 10: 29,101,039 (GRCm39) N471D probably benign Het
Ahctf1 A T 1: 179,623,361 (GRCm39) F86I probably damaging Het
Alpk1 T C 3: 127,473,457 (GRCm39) T849A probably benign Het
Arfgef1 A T 1: 10,244,367 (GRCm39) D965E probably damaging Het
Asxl1 A G 2: 153,243,820 (GRCm39) T1458A probably benign Het
Cdc42bpa A T 1: 179,939,349 (GRCm39) M876L possibly damaging Het
Celsr3 G A 9: 108,719,751 (GRCm39) R2450H probably benign Het
Col12a1 A T 9: 79,564,095 (GRCm39) V1710E probably benign Het
Corin G A 5: 72,496,381 (GRCm39) S524L probably damaging Het
Dennd2c A G 3: 103,064,158 (GRCm39) H658R probably damaging Het
Disp3 A G 4: 148,343,252 (GRCm39) V553A probably damaging Het
Dpm2 T C 2: 32,462,457 (GRCm39) F81S probably benign Het
Emc2 T A 15: 43,377,154 (GRCm39) I239N probably damaging Het
Fhip1a C T 3: 85,583,404 (GRCm39) W464* probably null Het
Fzd5 C T 1: 64,774,066 (GRCm39) G565D probably damaging Het
Gpld1 T C 13: 25,146,839 (GRCm39) F267S probably benign Het
Kif14 C A 1: 136,407,583 (GRCm39) A46E probably damaging Het
Mta3 G T 17: 84,091,730 (GRCm39) E179* probably null Het
Pcnx2 T C 8: 126,480,190 (GRCm39) N2039S probably damaging Het
Rc3h2 A G 2: 37,269,013 (GRCm39) S818P possibly damaging Het
Scn11a T A 9: 119,642,252 (GRCm39) E162D probably benign Het
Slc5a7 A T 17: 54,584,154 (GRCm39) W379R probably damaging Het
Sptb C T 12: 76,667,935 (GRCm39) V721M probably damaging Het
Vmn1r82 T A 7: 12,038,982 (GRCm39) V85E probably damaging Het
Vmn2r130 T C 17: 23,280,480 (GRCm39) I47T possibly damaging Het
Vmn2r93 T A 17: 18,518,665 (GRCm39) F41L probably benign 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
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
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'- AGACTTCTCCTCCCCAAGTG -3'
(R):5'- CAGTGCTAGCTCTGTGATCTGC -3'

Sequencing Primer
(F):5'- TGCTGTGGACCAAATGCC -3'
(R):5'- CTAGCTCTGTGATCTGCTGTTGTTC -3'
Posted On 2014-11-11