Incidental Mutation 'IGL01315:Ntm'
ID 73830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntm
Ensembl Gene ENSMUSG00000059974
Gene Name neurotrimin
Synonyms B230210G24Rik, Hnt, 6230410L23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL01315
Quality Score
Status
Chromosome 9
Chromosomal Location 28906046-29874437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28925480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 26 (S26C)
Ref Sequence ENSEMBL: ENSMUSP00000119030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075069] [ENSMUST00000115236] [ENSMUST00000115237] [ENSMUST00000140118] [ENSMUST00000155308]
AlphaFold Q99PJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000075069
AA Change: S202C

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074578
Gene: ENSMUSG00000059974
AA Change: S202C

DomainStartEndE-ValueType
IG 42 133 2.08e-10 SMART
IGc2 148 208 1.31e-16 SMART
IGc2 234 302 2.3e-12 SMART
low complexity region 332 342 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115236
AA Change: S202C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110891
Gene: ENSMUSG00000059974
AA Change: S202C

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 42 133 2.08e-10 SMART
IGc2 148 208 1.31e-16 SMART
IGc2 234 302 2.3e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115237
AA Change: S202C

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110892
Gene: ENSMUSG00000059974
AA Change: S202C

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 42 133 2.08e-10 SMART
IGc2 148 208 1.31e-16 SMART
IGc2 234 302 2.3e-12 SMART
low complexity region 332 342 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126044
Predicted Effect probably damaging
Transcript: ENSMUST00000140118
AA Change: S26C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114810
Gene: ENSMUSG00000059974
AA Change: S26C

DomainStartEndE-ValueType
Pfam:Ig_2 3 43 5.2e-3 PFAM
IGc2 58 126 2.3e-12 SMART
low complexity region 167 177 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000155308
AA Change: S26C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119030
Gene: ENSMUSG00000059974
AA Change: S26C

DomainStartEndE-ValueType
Pfam:Ig_2 3 43 5.8e-3 PFAM
IGc2 58 126 2.3e-12 SMART
low complexity region 179 189 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148606
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 T C 5: 31,050,578 (GRCm39) S409P probably benign Het
Ankdd1a T A 9: 65,415,984 (GRCm39) H187L probably damaging Het
Ap2a1 A T 7: 44,565,713 (GRCm39) D51E possibly damaging Het
Ccn3 T C 15: 54,612,656 (GRCm39) S222P probably damaging Het
Cog5 T A 12: 31,810,985 (GRCm39) probably benign Het
Eif3h T C 15: 51,705,881 (GRCm39) D91G probably damaging Het
Ell2 A G 13: 75,910,351 (GRCm39) probably benign Het
Epha4 A G 1: 77,375,194 (GRCm39) V551A probably benign Het
Gpc2 A G 5: 138,274,301 (GRCm39) S354P probably benign Het
Gramd1a A G 7: 30,841,993 (GRCm39) F140L probably damaging Het
Hnmt A G 2: 23,909,180 (GRCm39) Y78H probably benign Het
Ighe T A 12: 113,234,972 (GRCm39) H396L unknown Het
Krt87 A G 15: 101,384,848 (GRCm39) probably benign Het
Mgat5b T C 11: 116,814,215 (GRCm39) S40P probably damaging Het
Mov10 A G 3: 104,703,261 (GRCm39) V876A probably damaging Het
Nbeal1 T C 1: 60,320,500 (GRCm39) V2031A probably damaging Het
Pcsk5 G A 19: 17,429,322 (GRCm39) T1552I probably damaging Het
Pex1 A T 5: 3,659,975 (GRCm39) D453V probably damaging Het
Pkd2l1 C T 19: 44,180,635 (GRCm39) D27N probably benign Het
Plppr5 G T 3: 117,456,175 (GRCm39) C232F probably damaging Het
Slc39a2 G T 14: 52,132,593 (GRCm39) E179* probably null Het
Slc8a3 A G 12: 81,361,169 (GRCm39) V550A probably damaging Het
Smc5 T A 19: 23,208,968 (GRCm39) T626S probably benign Het
Tars1 A C 15: 11,389,820 (GRCm39) Y363* probably null Het
Unc79 T C 12: 103,054,780 (GRCm39) I906T possibly damaging Het
Ush2a C T 1: 188,365,811 (GRCm39) P2222S possibly damaging Het
Wdr31 A C 4: 62,374,074 (GRCm39) V306G probably damaging Het
Zdhhc1 C A 8: 106,199,630 (GRCm39) R389S probably benign Het
Other mutations in Ntm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Ntm APN 9 29,322,886 (GRCm39) missense probably benign 0.05
IGL03236:Ntm APN 9 29,020,802 (GRCm39) missense probably benign 0.04
Frowsy UTSW 9 28,923,516 (GRCm39) nonsense probably null
R0423:Ntm UTSW 9 29,090,395 (GRCm39) missense probably damaging 0.99
R1772:Ntm UTSW 9 29,090,396 (GRCm39) missense probably benign 0.02
R1905:Ntm UTSW 9 29,090,393 (GRCm39) missense probably damaging 1.00
R2295:Ntm UTSW 9 29,020,817 (GRCm39) missense possibly damaging 0.89
R4342:Ntm UTSW 9 29,020,727 (GRCm39) missense probably damaging 0.98
R4433:Ntm UTSW 9 28,923,516 (GRCm39) nonsense probably null
R4696:Ntm UTSW 9 29,090,501 (GRCm39) missense possibly damaging 0.46
R5572:Ntm UTSW 9 28,925,512 (GRCm39) missense probably damaging 1.00
R6031:Ntm UTSW 9 28,920,671 (GRCm39) missense probably damaging 1.00
R6031:Ntm UTSW 9 28,920,671 (GRCm39) missense probably damaging 1.00
R6431:Ntm UTSW 9 29,322,978 (GRCm39) missense probably damaging 1.00
R7250:Ntm UTSW 9 29,322,988 (GRCm39) missense probably benign 0.06
R8283:Ntm UTSW 9 28,923,508 (GRCm39) missense probably damaging 0.96
R9477:Ntm UTSW 9 29,322,922 (GRCm39) missense probably benign 0.03
R9713:Ntm UTSW 9 29,090,327 (GRCm39) missense possibly damaging 0.95
Posted On 2013-10-07