Incidental Mutation 'IGL00092:Ninj1'
ID1027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ninj1
Ensembl Gene ENSMUSG00000037966
Gene Nameninjurin 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL00092
Quality Score
Status
Chromosome13
Chromosomal Location49187485-49196244 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 49193734 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049022] [ENSMUST00000120733] [ENSMUST00000131280]
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: 118,928,695 D443G probably benign Het
Atg16l1 T C 1: 87,765,397 I28T possibly damaging Het
Bpi T A 2: 158,274,796 V371E probably damaging Het
Cd109 T G 9: 78,616,969 V55G probably damaging Het
Cd300c2 T C 11: 115,001,549 probably benign Het
Cic C T 7: 25,292,124 R1280C probably damaging Het
Cngb1 G A 8: 95,242,184 probably benign Het
Cntn4 G T 6: 106,506,225 C247F probably damaging Het
Disp3 C T 4: 148,241,534 V1256I probably benign Het
Farsb A T 1: 78,462,993 S338T probably benign Het
Fcnb T C 2: 28,076,801 N240S probably benign Het
Flg2 A G 3: 93,219,855 S5G possibly damaging Het
Git1 T C 11: 77,505,957 L635P probably benign Het
Gm21985 T G 2: 112,351,334 W685G probably damaging Het
Gpt2 T C 8: 85,512,324 V262A probably benign Het
Hecw2 A G 1: 53,830,737 V1444A probably damaging Het
Herc1 T C 9: 66,483,966 V4017A probably benign Het
Klhl17 T C 4: 156,233,690 T129A possibly damaging Het
Krt84 T G 15: 101,528,735 D331A probably damaging Het
Lrrc9 C T 12: 72,486,243 T963M possibly damaging Het
Mtcl1 C T 17: 66,344,319 V935I probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myocd T C 11: 65,180,944 probably null Het
Nid1 A G 13: 13,476,392 N505D probably damaging Het
Olfr1375 C A 11: 51,048,400 Q98K probably benign Het
Olfr1426 A T 19: 12,087,993 D266E probably benign Het
Olfr307 C T 7: 86,336,061 V112I probably benign Het
Plscr2 T A 9: 92,290,632 probably benign Het
Ppfia2 A G 10: 106,819,492 T307A probably benign Het
Sart3 T C 5: 113,746,669 R625G probably benign Het
Sohlh2 T A 3: 55,207,815 L407H probably damaging Het
Sorcs1 A G 19: 50,190,054 S877P probably damaging Het
Stat1 T C 1: 52,122,595 M1T probably null Het
Szt2 C T 4: 118,384,250 probably benign Het
Tarsl2 G T 7: 65,652,259 probably null Het
Terb2 T A 2: 122,198,386 S141R probably benign Het
Tgfbrap1 T C 1: 43,060,123 Y177C probably damaging Het
Trappc9 A T 15: 73,026,026 I169N possibly damaging Het
Trim47 A G 11: 116,106,194 L578P probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Vmn2r90 T C 17: 17,733,496 S641P probably benign Het
Vwa5a T A 9: 38,737,814 probably null Het
Zzef1 T A 11: 72,875,126 I1493N probably benign Het
Other mutations in Ninj1
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB008:Ninj1 UTSW 13 49193956 missense probably damaging 1.00
BB018:Ninj1 UTSW 13 49193956 missense probably damaging 1.00
R4573:Ninj1 UTSW 13 49194987 missense probably damaging 1.00
R4584:Ninj1 UTSW 13 49193966 critical splice donor site probably null
R7567:Ninj1 UTSW 13 49193880 missense probably damaging 1.00
R7931:Ninj1 UTSW 13 49193956 missense probably damaging 1.00
R8051:Ninj1 UTSW 13 49193812 missense probably damaging 1.00
Posted On2011-07-12