Incidental Mutation 'R6873:Nlk'
ID 536269
Institutional Source Beutler Lab
Gene Symbol Nlk
Ensembl Gene ENSMUSG00000017376
Gene Name nemo like kinase
Synonyms
MMRRC Submission 044970-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6873 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 78457994-78588199 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78481774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 229 (I229T)
Ref Sequence ENSEMBL: ENSMUSP00000119345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000142739]
AlphaFold O54949
Predicted Effect possibly damaging
Transcript: ENSMUST00000142739
AA Change: I229T

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119345
Gene: ENSMUSG00000017376
AA Change: I229T

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
low complexity region 27 55 N/A INTRINSIC
low complexity region 97 119 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
S_TKc 138 427 3.36e-89 SMART
Meta Mutation Damage Score 0.2646 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (48/49)
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation die either during late gestation or around 4-6 weeks, depending on background. Long survivors exhibit growth retardation, neurological abnormalities, and aberrant differentiation of bone marrow stromal cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,138 (GRCm39) D123G probably benign Het
Agbl4 A G 4: 111,423,856 (GRCm39) D294G possibly damaging Het
Apob G T 12: 8,065,995 (GRCm39) M4288I probably benign Het
Arnt T G 3: 95,381,886 (GRCm39) F160V probably damaging Het
Atp5f1a C T 18: 77,863,540 (GRCm39) R42* probably null Het
Bhlha15 A G 5: 144,128,203 (GRCm39) D105G probably benign Het
C6 A G 15: 4,820,461 (GRCm39) T491A probably benign Het
Calhm5 G C 10: 33,968,448 (GRCm39) R202G probably damaging Het
Caskin1 A G 17: 24,723,153 (GRCm39) E647G probably benign Het
Col11a2 A G 17: 34,283,993 (GRCm39) D1579G unknown Het
Dctn2 T G 10: 127,112,105 (GRCm39) probably null Het
Eqtn A G 4: 94,815,258 (GRCm39) V80A probably damaging Het
Etl4 A G 2: 20,802,803 (GRCm39) probably null Het
Fbxo10 T C 4: 45,041,787 (GRCm39) D814G possibly damaging Het
Galnt10 A G 11: 57,672,045 (GRCm39) D445G probably damaging Het
Gm6309 T C 5: 146,104,998 (GRCm39) D305G probably damaging Het
Grap2 G A 15: 80,527,874 (GRCm39) V107I probably damaging Het
Igsf10 C T 3: 59,235,865 (GRCm39) A1439T probably benign Het
Krt5 G A 15: 101,621,312 (GRCm39) probably benign Het
Lancl2 A G 6: 57,699,642 (GRCm39) I152M possibly damaging Het
Mast3 A T 8: 71,239,236 (GRCm39) C447* probably null Het
Mef2b A G 8: 70,618,957 (GRCm39) I180V probably benign Het
Mon1b T C 8: 114,368,697 (GRCm39) Y533H probably damaging Het
Mst1r A T 9: 107,788,843 (GRCm39) H454L possibly damaging Het
Nhlrc4 G A 17: 26,162,496 (GRCm39) Q84* probably null Het
Nlrp6 T C 7: 140,503,433 (GRCm39) I513T probably benign Het
Or1j12 A T 2: 36,343,508 (GRCm39) I304F probably benign Het
Or2n1 A T 17: 38,486,259 (GRCm39) M95L probably benign Het
Or4c108 T C 2: 88,803,768 (GRCm39) T156A probably benign Het
Panx1 A T 9: 14,921,513 (GRCm39) Y121N probably damaging Het
Pfkfb4 A C 9: 108,839,403 (GRCm39) probably null Het
Setbp1 A G 18: 78,902,774 (GRCm39) S298P probably benign Het
Sh3bgr A C 16: 96,007,691 (GRCm39) K19Q probably damaging Het
Slc35c2 T C 2: 165,124,729 (GRCm39) D82G possibly damaging Het
Spata13 T A 14: 60,929,406 (GRCm39) D321E probably benign Het
Stab2 A G 10: 86,697,230 (GRCm39) probably null Het
Sulf2 T A 2: 165,931,195 (GRCm39) I271F probably damaging Het
Sult2a5 A T 7: 13,359,311 (GRCm39) I96L probably benign Het
Sv2b A G 7: 74,855,954 (GRCm39) F112S probably damaging Het
Sycp1 G A 3: 102,748,296 (GRCm39) T832I probably benign Het
Tm9sf2 A T 14: 122,382,525 (GRCm39) E179V probably damaging Het
Tmem209 A G 6: 30,508,455 (GRCm39) I66T probably damaging Het
Tspan10 T C 11: 120,335,549 (GRCm39) W220R probably damaging Het
Ttc39b G C 4: 83,164,513 (GRCm39) N266K probably damaging Het
Uri1 A T 7: 37,664,764 (GRCm39) D309E probably benign Het
Zfhx3 C T 8: 109,527,273 (GRCm39) R1057W probably damaging Het
Other mutations in Nlk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01772:Nlk APN 11 78,480,201 (GRCm39) missense probably damaging 1.00
IGL02186:Nlk APN 11 78,477,762 (GRCm39) missense probably damaging 1.00
IGL02336:Nlk APN 11 78,477,763 (GRCm39) missense probably damaging 1.00
IGL02739:Nlk APN 11 78,465,677 (GRCm39) missense probably benign 0.05
IGL02953:Nlk APN 11 78,517,527 (GRCm39) missense probably benign 0.02
leagues UTSW 11 78,481,831 (GRCm39) splice site probably null
Verne UTSW 11 78,477,892 (GRCm39) nonsense probably null
R0276:Nlk UTSW 11 78,462,301 (GRCm39) missense probably benign 0.01
R0324:Nlk UTSW 11 78,463,257 (GRCm39) missense possibly damaging 0.71
R0636:Nlk UTSW 11 78,586,670 (GRCm39) missense probably benign 0.34
R0639:Nlk UTSW 11 78,463,103 (GRCm39) missense possibly damaging 0.86
R1776:Nlk UTSW 11 78,477,853 (GRCm39) missense probably benign 0.03
R1886:Nlk UTSW 11 78,477,754 (GRCm39) missense probably damaging 1.00
R4330:Nlk UTSW 11 78,481,774 (GRCm39) missense possibly damaging 0.79
R4331:Nlk UTSW 11 78,481,774 (GRCm39) missense possibly damaging 0.79
R5974:Nlk UTSW 11 78,481,792 (GRCm39) missense probably benign 0.39
R6532:Nlk UTSW 11 78,586,881 (GRCm39) missense probably damaging 0.99
R6669:Nlk UTSW 11 78,477,892 (GRCm39) nonsense probably null
R7165:Nlk UTSW 11 78,481,793 (GRCm39) nonsense probably null
R7475:Nlk UTSW 11 78,474,225 (GRCm39) missense probably damaging 1.00
R7637:Nlk UTSW 11 78,481,831 (GRCm39) splice site probably null
R8950:Nlk UTSW 11 78,586,758 (GRCm39) missense probably benign 0.41
R9665:Nlk UTSW 11 78,481,753 (GRCm39) missense
Z1176:Nlk UTSW 11 78,474,225 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTAGCATGCTCAAGGATTTG -3'
(R):5'- GCCTGTCTAGAAGCTAGCTG -3'

Sequencing Primer
(F):5'- AGTTTAATACCTAGCACTTCTAACCC -3'
(R):5'- GTCTAGAAGCTAGCTGTCTTCAAAC -3'
Posted On 2018-10-18