Incidental Mutation 'R7135:Ninl'
ID 552978
Institutional Source Beutler Lab
Gene Symbol Ninl
Ensembl Gene ENSMUSG00000068115
Gene Name ninein-like
Synonyms LOC381388, 4930519N13Rik, LOC381387
MMRRC Submission 045247-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7135 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 150776439-150851330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150797524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 592 (H592R)
Ref Sequence ENSEMBL: ENSMUSP00000105522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109896] [ENSMUST00000124135] [ENSMUST00000150595]
AlphaFold Q6ZQ12
Predicted Effect probably benign
Transcript: ENSMUST00000109896
AA Change: H592R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: H592R

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 benign
Transcript: ENSMUST00000124135
SMART Domains Protein: ENSMUSP00000122069
Gene: ENSMUSG00000068115

DomainStartEndE-ValueType
coiled coil region 16 61 N/A INTRINSIC
coiled coil region 92 266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150595
SMART Domains Protein: ENSMUSP00000117001
Gene: ENSMUSG00000068115

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
coiled coil region 85 122 N/A INTRINSIC
coiled coil region 160 216 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (83/83)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,819,887 (GRCm39) Y221* probably null Het
AC166344.1 T A 14: 43,158,245 (GRCm39) F97I Het
Ankmy2 T C 12: 36,246,311 (GRCm39) S412P probably benign Het
Ap1s3 T C 1: 79,586,919 (GRCm39) T144A probably benign Het
Armh2 T C 13: 24,925,489 (GRCm39) S78P probably benign Het
Asb3 T A 11: 30,948,501 (GRCm39) L59* probably null Het
Asxl3 G T 18: 22,650,758 (GRCm39) G916* probably null Het
Asxl3 G C 18: 22,650,759 (GRCm39) G916A probably damaging Het
Birc2 A C 9: 7,818,762 (GRCm39) F610V probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccdc162 A G 10: 41,549,855 (GRCm39) S343P probably benign Het
Ccnk T A 12: 108,152,734 (GRCm39) L17Q probably damaging Het
Cd59b G A 2: 103,914,792 (GRCm39) W63* probably null Het
Chrm3 C T 13: 9,927,837 (GRCm39) V400I probably benign Het
Crb1 C A 1: 139,171,105 (GRCm39) V762F probably damaging Het
Cspp1 C T 1: 10,159,161 (GRCm39) T529I possibly damaging Het
Cttnbp2 A G 6: 18,448,446 (GRCm39) I71T possibly damaging Het
Cyb561 C A 11: 105,826,393 (GRCm39) G90V probably damaging Het
Cyld T A 8: 89,471,520 (GRCm39) D804E possibly damaging Het
Ddx31 G A 2: 28,738,318 (GRCm39) V160I probably benign Het
Dgkg T C 16: 22,319,132 (GRCm39) D643G probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah12 T G 14: 26,523,370 (GRCm39) I1953S probably damaging Het
Dnah7b T C 1: 46,178,870 (GRCm39) W848R probably damaging Het
Dnah7c C T 1: 46,572,368 (GRCm39) T947M probably damaging Het
Dnmt3c C A 2: 153,556,872 (GRCm39) probably null Het
Dsp A T 13: 38,363,049 (GRCm39) Y443F probably damaging Het
Espl1 T A 15: 102,227,959 (GRCm39) C1603* probably null Het
Faiml G T 9: 99,116,496 (GRCm39) R65S probably benign Het
Gfpt2 T C 11: 49,695,782 (GRCm39) I4T probably damaging Het
Gm10376 T A 14: 42,867,950 (GRCm39) M179L probably benign Het
Gm4302 T A 10: 100,177,589 (GRCm39) M291K unknown Het
Gnb1l T A 16: 18,363,918 (GRCm39) D154E probably benign Het
Igkv10-94 T C 6: 68,681,727 (GRCm39) R38G possibly damaging Het
Inmt A T 6: 55,148,013 (GRCm39) Y205* probably null Het
Krba1 A G 6: 48,393,233 (GRCm39) Q1049R probably benign Het
Lpxn T A 19: 12,810,683 (GRCm39) C376S probably damaging Het
Lrrc52 T A 1: 167,294,019 (GRCm39) I89F probably damaging Het
Map9 A T 3: 82,270,765 (GRCm39) T110S probably benign Het
Mccc1 T C 3: 36,049,967 (GRCm39) Y75C probably damaging Het
Mff T A 1: 82,724,812 (GRCm39) L203* probably null Het
Micall1 C A 15: 78,993,624 (GRCm39) D47E unknown Het
Mink1 T C 11: 70,494,329 (GRCm39) F243S probably damaging Het
Mlycd C T 8: 120,129,216 (GRCm39) R228W probably damaging Het
Msr1 A T 8: 40,042,465 (GRCm39) V370E possibly damaging Het
Naip6 T C 13: 100,436,927 (GRCm39) E532G probably damaging Het
Nepn G A 10: 52,267,815 (GRCm39) C27Y probably damaging Het
Nr4a2 A G 2: 57,002,261 (GRCm39) M64T possibly damaging Het
Oprm1 A T 10: 6,780,203 (GRCm39) I171F possibly damaging Het
Or4g16 T A 2: 111,137,365 (GRCm39) F272I probably benign Het
Or5p60 T C 7: 107,723,781 (GRCm39) K230E probably damaging Het
Pcbp1 A T 6: 86,502,488 (GRCm39) M137K possibly damaging Het
Pcf11 A T 7: 92,306,524 (GRCm39) S1215T probably benign Het
Pdlim5 A T 3: 142,017,683 (GRCm39) probably null Het
Pecam1 T C 11: 106,579,857 (GRCm39) I402V probably damaging Het
Pex12 T C 11: 83,188,468 (GRCm39) T176A probably benign Het
Phf3 T C 1: 30,870,190 (GRCm39) K286R possibly damaging Het
Pik3ap1 T A 19: 41,320,760 (GRCm39) D153V probably damaging Het
Pkhd1l1 T A 15: 44,448,374 (GRCm39) probably null Het
Plekhn1 A G 4: 156,307,792 (GRCm39) V378A probably benign Het
Pramel26 A T 4: 143,537,233 (GRCm39) L366Q probably damaging Het
Ptprm A T 17: 67,251,283 (GRCm39) D531E possibly damaging Het
Pum2 A T 12: 8,778,952 (GRCm39) Q508L possibly damaging Het
Rad54l A G 4: 115,963,027 (GRCm39) S324P probably damaging Het
Recql5 C T 11: 115,821,498 (GRCm39) probably null Het
Reln A T 5: 22,181,594 (GRCm39) V1763D possibly damaging Het
Rp1 T C 1: 4,418,391 (GRCm39) N907S possibly damaging Het
Scaf11 T A 15: 96,318,209 (GRCm39) N452Y possibly damaging Het
Scgb2b3 T A 7: 31,059,639 (GRCm39) H45L possibly damaging Het
Sim1 A G 10: 50,772,023 (GRCm39) T11A probably damaging Het
Slc5a12 T A 2: 110,447,059 (GRCm39) M189K possibly damaging Het
Slco2b1 C T 7: 99,344,270 (GRCm39) G10S probably null Het
Speer1j C T 5: 11,555,198 (GRCm39) P83S probably damaging Het
Stxbp3 A G 3: 108,708,071 (GRCm39) L410P probably damaging Het
Sugct T C 13: 17,476,594 (GRCm39) N297D probably benign Het
Syne1 A G 10: 5,183,409 (GRCm39) I4132T probably benign Het
Teddm1b A T 1: 153,750,912 (GRCm39) L240F probably damaging Het
Tlr5 C A 1: 182,803,088 (GRCm39) D797E possibly damaging Het
Tmprss13 G T 9: 45,249,643 (GRCm39) G327C probably damaging Het
Tnrc18 G T 5: 142,773,572 (GRCm39) A419D Het
Ttc28 T C 5: 111,427,873 (GRCm39) Y1790H probably damaging Het
Vmn1r125 T G 7: 21,006,327 (GRCm39) M75R probably damaging Het
Vwa3a T A 7: 120,372,253 (GRCm39) D276E possibly damaging Het
Wdfy3 C T 5: 102,063,303 (GRCm39) V1322M probably damaging Het
Wdr11 T C 7: 129,229,830 (GRCm39) S872P possibly damaging Het
Zc3h13 T C 14: 75,559,161 (GRCm39) S357P unknown 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
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
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'- AATTTGTCTCCTCTGGGGTCAG -3'
(R):5'- CTGTAGTGGGCGCTTACTAC -3'

Sequencing Primer
(F):5'- CCTCTGGGGTCAGGTAATTATAACC -3'
(R):5'- CGCTTACTACAGATGGGGCTGATC -3'
Posted On 2019-05-15