Incidental Mutation 'IGL01315:Ntm'
ID73830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntm
Ensembl Gene ENSMUSG00000059974
Gene Nameneurotrimin
Synonyms6230410L23Rik, B230210G24Rik, Hnt
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #IGL01315
Quality Score
Status
Chromosome9
Chromosomal Location28994750-29963141 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 29014184 bp
ZygosityHeterozygous
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]
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 noncoding transcript
Transcript: ENSMUST00000148606
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
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: 30,893,234 S409P probably benign Het
Ankdd1a T A 9: 65,508,702 H187L probably damaging Het
Ap2a1 A T 7: 44,916,289 D51E possibly damaging Het
Cog5 T A 12: 31,760,986 probably benign Het
Eif3h T C 15: 51,842,485 D91G probably damaging Het
Ell2 A G 13: 75,762,232 probably benign Het
Epha4 A G 1: 77,398,557 V551A probably benign Het
Gpc2 A G 5: 138,276,039 S354P probably benign Het
Gramd1a A G 7: 31,142,568 F140L probably damaging Het
Hnmt A G 2: 24,019,168 Y78H probably benign Het
Ighe T A 12: 113,271,352 H396L unknown Het
Krt83 A G 15: 101,486,967 probably benign Het
Mgat5b T C 11: 116,923,389 S40P probably damaging Het
Mov10 A G 3: 104,795,945 V876A probably damaging Het
Nbeal1 T C 1: 60,281,341 V2031A probably damaging Het
Nov T C 15: 54,749,260 S222P probably damaging Het
Pcsk5 G A 19: 17,451,958 T1552I probably damaging Het
Pex1 A T 5: 3,609,975 D453V probably damaging Het
Pkd2l1 C T 19: 44,192,196 D27N probably benign Het
Plppr5 G T 3: 117,662,526 C232F probably damaging Het
Slc39a2 G T 14: 51,895,136 E179* probably null Het
Slc8a3 A G 12: 81,314,395 V550A probably damaging Het
Smc5 T A 19: 23,231,604 T626S probably benign Het
Tars A C 15: 11,389,734 Y363* probably null Het
Unc79 T C 12: 103,088,521 I906T possibly damaging Het
Ush2a C T 1: 188,633,614 P2222S possibly damaging Het
Wdr31 A C 4: 62,455,837 V306G probably damaging Het
Zdhhc1 C A 8: 105,472,998 R389S probably benign Het
Other mutations in Ntm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Ntm APN 9 29411590 missense probably benign 0.05
IGL03236:Ntm APN 9 29109506 missense probably benign 0.04
Frowsy UTSW 9 29012220 nonsense probably null
R0423:Ntm UTSW 9 29179099 missense probably damaging 0.99
R1772:Ntm UTSW 9 29179100 missense probably benign 0.02
R1905:Ntm UTSW 9 29179097 missense probably damaging 1.00
R2295:Ntm UTSW 9 29109521 missense possibly damaging 0.89
R4342:Ntm UTSW 9 29109431 missense probably damaging 0.98
R4433:Ntm UTSW 9 29012220 nonsense probably null
R4696:Ntm UTSW 9 29179205 missense possibly damaging 0.46
R5572:Ntm UTSW 9 29014216 missense probably damaging 1.00
R6031:Ntm UTSW 9 29009375 missense probably damaging 1.00
R6031:Ntm UTSW 9 29009375 missense probably damaging 1.00
R6431:Ntm UTSW 9 29411682 missense probably damaging 1.00
R7250:Ntm UTSW 9 29411692 missense probably benign 0.06
R8283:Ntm UTSW 9 29012212 missense probably damaging 0.96
Posted On2013-10-07