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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |