Incidental Mutation 'R8051:Ninj1'
ID 619067
Institutional Source Beutler Lab
Gene Symbol Ninj1
Ensembl Gene ENSMUSG00000037966
Gene Name ninjurin 1
Synonyms
MMRRC Submission 067488-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R8051 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 49341005-49349727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49347288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 51 (M51K)
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: M51K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036740
Gene: ENSMUSG00000037966
AA Change: M51K

DomainStartEndE-ValueType
Pfam:Ninjurin 37 140 3.8e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120733
AA Change: M109K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114130
Gene: ENSMUSG00000037966
AA Change: M109K

DomainStartEndE-ValueType
Pfam:Ninjurin 96 197 6e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131280
AA Change: M51K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121186
Gene: ENSMUSG00000037966
AA Change: M51K

DomainStartEndE-ValueType
Pfam:Ninjurin 37 109 4.5e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 78,750,527 (GRCm39) L1766Q probably damaging Het
Adgrl3 A G 5: 81,613,113 (GRCm39) Y114C probably damaging Het
Ano9 T A 7: 140,684,445 (GRCm39) I472F probably damaging Het
Arhgap10 A G 8: 78,244,309 (GRCm39) F35S probably damaging Het
Bltp2 G A 11: 78,164,238 (GRCm39) probably benign Het
Btnl2 T A 17: 34,582,473 (GRCm39) D346E probably damaging Het
C4bp A T 1: 130,583,705 (GRCm39) C88S probably damaging Het
Cavin2 A T 1: 51,340,283 (GRCm39) Q320L probably benign Het
Chtf18 C A 17: 25,942,453 (GRCm39) V462L probably benign Het
Crisp3 A T 17: 40,543,451 (GRCm39) S134R probably benign Het
Dlg4 C A 11: 69,922,468 (GRCm39) probably benign Het
Dsc3 A T 18: 20,114,270 (GRCm39) M328K probably damaging Het
Efemp2 T A 19: 5,526,095 (GRCm39) D73E probably damaging Het
Fbn1 C T 2: 125,148,383 (GRCm39) A2622T possibly damaging Het
Flt1 T C 5: 147,519,501 (GRCm39) H938R probably benign Het
Flt3 T G 5: 147,295,765 (GRCm39) probably benign Het
Fnbp4 T C 2: 90,608,083 (GRCm39) V935A possibly damaging Het
Frem2 T C 3: 53,442,776 (GRCm39) N2587S probably benign Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gm36864 A T 7: 43,891,976 (GRCm39) I385F probably benign Het
Il17re G T 6: 113,436,328 (GRCm39) R47L probably benign Het
Il27ra A G 8: 84,760,578 (GRCm39) probably null Het
Irf4 A G 13: 30,945,456 (GRCm39) I401V probably damaging Het
Kat6a T C 8: 23,400,265 (GRCm39) L342S probably damaging Het
Klc1 T A 12: 111,748,384 (GRCm39) C390S possibly damaging Het
Klhl22 A T 16: 17,610,443 (GRCm39) I565F probably damaging Het
Krt26 A T 11: 99,228,672 (GRCm39) L20Q probably damaging Het
Lamb3 T C 1: 193,012,375 (GRCm39) V384A possibly damaging Het
Lmo2 T A 2: 103,801,045 (GRCm39) L80Q possibly damaging Het
Lrrc37a T G 11: 103,393,952 (GRCm39) E491A possibly damaging Het
Or11g26 C A 14: 50,753,100 (GRCm39) N146K probably benign Het
Or12d17 G A 17: 37,777,213 (GRCm39) G39R probably damaging Het
Plppr3 T A 10: 79,702,838 (GRCm39) T142S probably damaging Het
Rab2b T C 14: 52,506,153 (GRCm39) D103G probably damaging Het
Rap1gap2 G T 11: 74,286,651 (GRCm39) R550S probably damaging Het
Rbm33 A G 5: 28,557,623 (GRCm39) N279D probably damaging Het
Rhox9 C T X: 36,990,253 (GRCm39) G40R probably benign Het
Selplg G A 5: 113,957,502 (GRCm39) T268I probably damaging Het
Slc20a1 T C 2: 129,050,120 (GRCm39) M426T possibly damaging Het
Spata18 A T 5: 73,827,063 (GRCm39) Y220F Het
Spns1 T C 7: 125,971,708 (GRCm39) T281A probably benign Het
Sptan1 C T 2: 29,920,171 (GRCm39) R2288C probably damaging Het
Tacstd2 T C 6: 67,512,383 (GRCm39) D103G probably damaging Het
Tmem121 C T 12: 113,152,487 (GRCm39) A235V probably benign Het
Try4 A G 6: 41,281,996 (GRCm39) D194G probably damaging Het
Tyrp1 C A 4: 80,755,897 (GRCm39) T222K probably damaging Het
Zfp57 T A 17: 37,320,785 (GRCm39) V213D probably damaging Het
Zfy2 A T Y: 2,117,380 (GRCm39) probably benign Het
Zkscan4 G A 13: 21,668,823 (GRCm39) G454R not run 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
BB018: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
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'- TGATCACTTGCCAGGGTTG -3'
(R):5'- AGGTGAAACCACTGCTCCAC -3'

Sequencing Primer
(F):5'- TACAGGGGCCTTGGCAACTC -3'
(R):5'- ATCCCTGGGCTGTGCAAG -3'
Posted On 2020-01-23