Incidental Mutation 'IGL03236:Ntm'
ID |
414043 |
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 # |
IGL03236
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
28906046-29874437 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29020802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 139
(V139A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074578
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075069]
[ENSMUST00000115236]
[ENSMUST00000115237]
|
AlphaFold |
Q99PJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075069
AA Change: V139A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000074578 Gene: ENSMUSG00000059974 AA Change: V139A
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 benign
Transcript: ENSMUST00000115236
AA Change: V139A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000110891 Gene: ENSMUSG00000059974 AA Change: V139A
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 benign
Transcript: ENSMUST00000115237
AA Change: V139A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000110892 Gene: ENSMUSG00000059974 AA Change: V139A
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 |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
A |
G |
4: 144,246,486 (GRCm39) |
T11A |
probably benign |
Het |
Abca17 |
A |
G |
17: 24,545,450 (GRCm39) |
|
probably benign |
Het |
Aox1 |
G |
T |
1: 58,349,156 (GRCm39) |
E641* |
probably null |
Het |
Arhgef10l |
G |
T |
4: 140,338,671 (GRCm39) |
D30E |
probably damaging |
Het |
Arhgef37 |
A |
T |
18: 61,656,897 (GRCm39) |
I56N |
probably damaging |
Het |
Cwf19l1 |
T |
C |
19: 44,115,887 (GRCm39) |
I181V |
probably benign |
Het |
Dnai2 |
A |
G |
11: 114,648,075 (GRCm39) |
|
probably benign |
Het |
Elp2 |
A |
G |
18: 24,755,300 (GRCm39) |
|
probably benign |
Het |
Epb41l4a |
G |
A |
18: 33,943,272 (GRCm39) |
S541L |
probably damaging |
Het |
Ibsp |
A |
C |
5: 104,453,871 (GRCm39) |
N70H |
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,657,848 (GRCm39) |
E35G |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,415,949 (GRCm39) |
V1623A |
probably damaging |
Het |
Kpna7 |
A |
T |
5: 144,922,504 (GRCm39) |
V499E |
unknown |
Het |
Krtap4-16 |
C |
A |
11: 99,741,962 (GRCm39) |
R146L |
unknown |
Het |
Map2k5 |
T |
A |
9: 63,193,674 (GRCm39) |
|
probably benign |
Het |
Mfn2 |
A |
G |
4: 147,966,562 (GRCm39) |
F543S |
probably damaging |
Het |
Mical3 |
A |
G |
6: 120,946,345 (GRCm39) |
L1052P |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,536,134 (GRCm39) |
N272S |
probably damaging |
Het |
Ndel1 |
A |
G |
11: 68,732,976 (GRCm39) |
Y87H |
probably benign |
Het |
Ndnf |
G |
A |
6: 65,673,156 (GRCm39) |
V45M |
possibly damaging |
Het |
Nr3c1 |
A |
G |
18: 39,619,444 (GRCm39) |
I281T |
probably benign |
Het |
Or5ac23 |
A |
C |
16: 59,149,200 (GRCm39) |
V224G |
probably damaging |
Het |
Pkhd1l1 |
T |
G |
15: 44,445,222 (GRCm39) |
V3698G |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,188,226 (GRCm39) |
Y773C |
probably damaging |
Het |
Prkaca |
T |
A |
8: 84,717,074 (GRCm39) |
F138Y |
probably damaging |
Het |
Qser1 |
T |
C |
2: 104,616,877 (GRCm39) |
T1312A |
probably benign |
Het |
Slc47a2 |
T |
C |
11: 61,204,505 (GRCm39) |
E282G |
probably damaging |
Het |
Smchd1 |
G |
A |
17: 71,698,425 (GRCm39) |
T1117I |
possibly damaging |
Het |
Utp6 |
A |
G |
11: 79,851,567 (GRCm39) |
|
probably benign |
Het |
Vmn1r66 |
T |
A |
7: 10,008,990 (GRCm39) |
K14N |
probably damaging |
Het |
Vmn1r71 |
A |
T |
7: 10,482,211 (GRCm39) |
V93E |
probably benign |
Het |
Zfp768 |
G |
A |
7: 126,943,142 (GRCm39) |
L329F |
possibly damaging |
Het |
|
Other mutations in Ntm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01315:Ntm
|
APN |
9 |
28,925,480 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01790:Ntm
|
APN |
9 |
29,322,886 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
2016-08-02 |