Incidental Mutation 'IGL00092:Ninj1'
ID 1027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ninj1
Ensembl Gene ENSMUSG00000037966
Gene Name ninjurin 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # IGL00092
Quality Score
Status
Chromosome 13
Chromosomal Location 49341005-49349727 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 49347210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049022] [ENSMUST00000120733] [ENSMUST00000131280]
AlphaFold O70131
Predicted Effect probably null
Transcript: ENSMUST00000049022
SMART Domains Protein: ENSMUSP00000036740
Gene: ENSMUSG00000037966

DomainStartEndE-ValueType
Pfam:Ninjurin 37 140 3.8e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120733
SMART Domains Protein: ENSMUSP00000114130
Gene: ENSMUSG00000037966

DomainStartEndE-ValueType
Pfam:Ninjurin 96 197 6e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131280
SMART Domains Protein: ENSMUSP00000121186
Gene: ENSMUSG00000037966

DomainStartEndE-ValueType
Pfam:Ninjurin 37 109 4.5e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153819
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,892,430 (GRCm39) D443G probably benign Het
Atg16l1 T C 1: 87,693,119 (GRCm39) I28T possibly damaging Het
Bpi T A 2: 158,116,716 (GRCm39) V371E probably damaging Het
Cd109 T G 9: 78,524,251 (GRCm39) V55G probably damaging Het
Cd300c2 T C 11: 114,892,375 (GRCm39) probably benign Het
Cic C T 7: 24,991,549 (GRCm39) R1280C probably damaging Het
Cngb1 G A 8: 95,968,812 (GRCm39) probably benign Het
Cntn4 G T 6: 106,483,186 (GRCm39) C247F probably damaging Het
Disp3 C T 4: 148,325,991 (GRCm39) V1256I probably benign Het
Farsb A T 1: 78,439,630 (GRCm39) S338T probably benign Het
Fcnb T C 2: 27,966,813 (GRCm39) N240S probably benign Het
Flg2 A G 3: 93,127,162 (GRCm39) S5G possibly damaging Het
Git1 T C 11: 77,396,783 (GRCm39) L635P probably benign Het
Gm21985 T G 2: 112,181,679 (GRCm39) W685G probably damaging Het
Gpt2 T C 8: 86,238,953 (GRCm39) V262A probably benign Het
Hecw2 A G 1: 53,869,896 (GRCm39) V1444A probably damaging Het
Herc1 T C 9: 66,391,248 (GRCm39) V4017A probably benign Het
Klhl17 T C 4: 156,318,147 (GRCm39) T129A possibly damaging Het
Krt84 T G 15: 101,437,170 (GRCm39) D331A probably damaging Het
Lrrc9 C T 12: 72,533,017 (GRCm39) T963M possibly damaging Het
Mtcl1 C T 17: 66,651,314 (GRCm39) V935I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myocd T C 11: 65,071,770 (GRCm39) probably null Het
Nid1 A G 13: 13,650,977 (GRCm39) N505D probably damaging Het
Or14a260 C T 7: 85,985,269 (GRCm39) V112I probably benign Het
Or1x6 C A 11: 50,939,227 (GRCm39) Q98K probably benign Het
Or4d10c A T 19: 12,065,357 (GRCm39) D266E probably benign Het
Plscr2 T A 9: 92,172,685 (GRCm39) probably benign Het
Ppfia2 A G 10: 106,655,353 (GRCm39) T307A probably benign Het
Sart3 T C 5: 113,884,730 (GRCm39) R625G probably benign Het
Sohlh2 T A 3: 55,115,236 (GRCm39) L407H probably damaging Het
Sorcs1 A G 19: 50,178,492 (GRCm39) S877P probably damaging Het
Stat1 T C 1: 52,161,754 (GRCm39) M1T probably null Het
Szt2 C T 4: 118,241,447 (GRCm39) probably benign Het
Tars3 G T 7: 65,302,007 (GRCm39) probably null Het
Terb2 T A 2: 122,028,867 (GRCm39) S141R probably benign Het
Tgfbrap1 T C 1: 43,099,283 (GRCm39) Y177C probably damaging Het
Trappc9 A T 15: 72,897,875 (GRCm39) I169N possibly damaging Het
Trim47 A G 11: 115,997,020 (GRCm39) L578P probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Vmn2r90 T C 17: 17,953,758 (GRCm39) S641P probably benign Het
Vwa5a T A 9: 38,649,110 (GRCm39) probably null Het
Zzef1 T A 11: 72,765,952 (GRCm39) I1493N probably benign Het
Other mutations in Ninj1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2011-07-12