Incidental Mutation 'BB018:Ninj1'
ID 643026
Institutional Source Beutler Lab
Gene Symbol Ninj1
Ensembl Gene ENSMUSG00000037966
Gene Name ninjurin 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # BB018
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 49341005-49349727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49347432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 99 (I99T)
Ref Sequence ENSEMBL: ENSMUSP00000036740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049022] [ENSMUST00000120733] [ENSMUST00000131280]
AlphaFold O70131
Predicted Effect probably damaging
Transcript: ENSMUST00000049022
AA Change: I99T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036740
Gene: ENSMUSG00000037966
AA Change: I99T

DomainStartEndE-ValueType
Pfam:Ninjurin 37 140 3.8e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120733
AA Change: I157T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114130
Gene: ENSMUSG00000037966
AA Change: I157T

DomainStartEndE-ValueType
Pfam:Ninjurin 96 197 6e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131280
AA Change: I99T

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121186
Gene: ENSMUSG00000037966
AA Change: I99T

DomainStartEndE-ValueType
Pfam:Ninjurin 37 109 4.5e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from primary cultured dorsal root ganglion neurons.[supplied by OMIM, Aug 2009]
PHENOTYPE: Homozygotes for a null allele die prematurely exhibiting hydroencephaly and abnormal cellular replicative senescence. Homozygotes for another null allele show resistance to EAE due to reduced leukocyte recruitment into lesion sites, and may display stunted growth, hydroencephaly, and ataxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp2 A T 2: 91,037,060 (GRCm39) probably null Het
Aire G A 10: 77,866,130 (GRCm39) A536V probably damaging Het
Aox4 A G 1: 58,294,645 (GRCm39) I951M probably benign Het
Ash1l G T 3: 88,950,848 (GRCm39) C2190F probably damaging Het
C1s1 C T 6: 124,510,359 (GRCm39) V363M probably damaging Het
Diaph3 A T 14: 87,352,456 (GRCm39) D48E possibly damaging Het
Dnajc13 A G 9: 104,095,763 (GRCm39) V559A probably benign Het
Dzank1 T C 2: 144,323,614 (GRCm39) I610V probably benign Het
F7 A G 8: 13,085,209 (GRCm39) I412V probably benign Het
Flt1 A G 5: 147,525,382 (GRCm39) S919P probably damaging Het
Igkv4-70 C A 6: 69,244,975 (GRCm39) R82L probably damaging Het
Lnp1 T A 16: 56,748,281 (GRCm39) R4* probably null Het
Lrrc3b T C 14: 15,358,018 (GRCm38) N196S probably benign Het
Mlxip A G 5: 123,588,558 (GRCm39) D816G probably damaging Het
Myh7 C T 14: 55,221,119 (GRCm39) E935K possibly damaging Het
Myom3 A T 4: 135,516,947 (GRCm39) H839L probably benign Het
Nebl C T 2: 17,381,433 (GRCm39) probably null Het
Or11g1 A C 14: 50,651,786 (GRCm39) M262L probably damaging Het
Or2l5 A G 16: 19,334,258 (GRCm39) S43P possibly damaging Het
Or4a76 T A 2: 89,460,448 (GRCm39) I265F possibly damaging Het
Or8g55 A T 9: 39,785,146 (GRCm39) T192S possibly damaging Het
Otop1 A G 5: 38,445,364 (GRCm39) H174R probably damaging Het
Pcdhb16 A G 18: 37,611,510 (GRCm39) N157D possibly damaging Het
Prss44 A C 9: 110,643,746 (GRCm39) Q130P probably damaging Het
Ptpn4 T A 1: 119,607,925 (GRCm39) M712L probably damaging Het
Ptprh C A 7: 4,574,987 (GRCm39) S344I probably benign Het
Rps6kl1 T C 12: 85,196,566 (GRCm39) I33V possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Scn1a T C 2: 66,148,156 (GRCm39) S110G probably damaging Het
Sdk2 C A 11: 113,784,267 (GRCm39) K157N possibly damaging Het
Serpina1d A T 12: 103,733,815 (GRCm39) V163D probably damaging Het
Serpina3g T C 12: 104,205,428 (GRCm39) S56P probably benign Het
Slc4a4 T C 5: 89,318,640 (GRCm39) L636P probably benign Het
Slc6a1 T C 6: 114,288,863 (GRCm39) F474S probably benign Het
Slco6d1 A G 1: 98,356,141 (GRCm39) D235G probably damaging Het
Srgn A T 10: 62,330,763 (GRCm39) M114K possibly damaging Het
Syne3 A T 12: 104,929,491 (GRCm39) V243E probably damaging Het
Tcf19 A G 17: 35,825,804 (GRCm39) F118L probably damaging Het
Tln2 A T 9: 67,165,742 (GRCm39) probably null Het
Tnxb A G 17: 34,907,672 (GRCm39) T1239A probably damaging Het
Traip A G 9: 107,848,241 (GRCm39) I453M probably benign Het
Vmn1r157 C T 7: 22,461,210 (GRCm39) A30V probably damaging Het
Vmn1r233 G A 17: 21,214,125 (GRCm39) A275V probably benign Het
Vps13d G A 4: 144,822,854 (GRCm39) R2976* probably null Het
Wdr75 T C 1: 45,858,795 (GRCm39) F655L probably benign Het
Wwp1 A G 4: 19,650,114 (GRCm39) probably null Het
Zc3h4 T C 7: 16,166,909 (GRCm39) L747P unknown Het
Zfp268 G A 4: 145,349,126 (GRCm39) D188N possibly damaging Het
Other mutations in Ninj1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Ninj1 APN 13 49,347,210 (GRCm39) critical splice acceptor site probably null
BB008:Ninj1 UTSW 13 49,347,432 (GRCm39) missense probably damaging 1.00
R4573:Ninj1 UTSW 13 49,348,463 (GRCm39) missense probably damaging 1.00
R4584:Ninj1 UTSW 13 49,347,442 (GRCm39) critical splice donor site probably null
R7567:Ninj1 UTSW 13 49,347,356 (GRCm39) missense probably damaging 1.00
R7931:Ninj1 UTSW 13 49,347,432 (GRCm39) missense probably damaging 1.00
R8051:Ninj1 UTSW 13 49,347,288 (GRCm39) missense probably damaging 1.00
R9185:Ninj1 UTSW 13 49,344,726 (GRCm39) missense probably benign 0.04
R9474:Ninj1 UTSW 13 49,341,076 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TATGCCAACAAGAAGAGCGC -3'
(R):5'- AAGCAGGTACCCAATTTCCC -3'

Sequencing Primer
(F):5'- CAACAAGAAGAGCGCTGCGG -3'
(R):5'- TTCCAGACCCTGAGGACC -3'
Posted On 2020-08-01