Incidental Mutation 'R2295:Ntm'
| ID |
245145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntm
|
| Ensembl Gene |
ENSMUSG00000059974 |
| Gene Name |
neurotrimin |
| Synonyms |
B230210G24Rik, Hnt, 6230410L23Rik |
| MMRRC Submission |
040294-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R2295 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
28906046-29874437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29020817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 134
(V134A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075069]
[ENSMUST00000115236]
[ENSMUST00000115237]
|
| AlphaFold |
Q99PJ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075069
AA Change: V134A
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074578
Gene: ENSMUSG00000059974
AA Change: V134A
| 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 |
possibly damaging
Transcript: ENSMUST00000115236
AA Change: V134A
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110891
Gene: ENSMUSG00000059974
AA Change: V134A
| 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 |
possibly damaging
Transcript: ENSMUST00000115237
AA Change: V134A
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110892
Gene: ENSMUSG00000059974
AA Change: V134A
| 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
|
| Meta Mutation Damage Score |
0.1986 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (41/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,199,570 (GRCm39) |
V136I |
probably benign |
Het |
| Aldh5a1 |
A |
G |
13: 25,110,082 (GRCm39) |
F151S |
probably damaging |
Het |
| Alox12 |
T |
C |
11: 70,133,291 (GRCm39) |
I638V |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,115,745 (GRCm39) |
D110E |
probably damaging |
Het |
| Capn15 |
G |
A |
17: 26,183,555 (GRCm39) |
R309* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,422,606 (GRCm39) |
I138V |
probably benign |
Het |
| Dennd3 |
G |
A |
15: 73,395,404 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,381,022 (GRCm39) |
V1990A |
probably benign |
Het |
| Dtna |
T |
G |
18: 23,764,469 (GRCm39) |
L546R |
probably damaging |
Het |
| Elac1 |
T |
C |
18: 73,872,300 (GRCm39) |
I232V |
probably benign |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,345 (GRCm39) |
E243K |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,322,120 (GRCm39) |
S222P |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,375,857 (GRCm39) |
T11A |
probably benign |
Het |
| Il18 |
A |
G |
9: 50,490,635 (GRCm39) |
E90G |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,520 (GRCm39) |
T720A |
probably benign |
Het |
| Kcnt1 |
G |
T |
2: 25,790,933 (GRCm39) |
A11S |
probably damaging |
Het |
| Luzp2 |
T |
C |
7: 54,821,938 (GRCm39) |
|
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,529,846 (GRCm39) |
N32D |
possibly damaging |
Het |
| Nfic |
T |
C |
10: 81,256,365 (GRCm39) |
K122E |
probably damaging |
Het |
| Olfml2b |
G |
A |
1: 170,490,107 (GRCm39) |
|
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,532 (GRCm39) |
V119A |
probably benign |
Het |
| Or9q2 |
A |
T |
19: 13,772,108 (GRCm39) |
I289N |
probably damaging |
Het |
| Osbpl9 |
A |
G |
4: 109,059,331 (GRCm39) |
Y28H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,835 (GRCm39) |
Y1025N |
probably damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,141,020 (GRCm39) |
A43T |
probably benign |
Het |
| Polb |
A |
G |
8: 23,143,335 (GRCm39) |
L19P |
probably damaging |
Het |
| Ppp1r14c |
T |
C |
10: 3,316,734 (GRCm39) |
F23S |
possibly damaging |
Het |
| Prkab1 |
A |
T |
5: 116,159,715 (GRCm39) |
|
probably null |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,053,473 (GRCm39) |
S143P |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,584 (GRCm39) |
N1348D |
unknown |
Het |
| Srgap1 |
T |
C |
10: 121,630,665 (GRCm39) |
K751R |
probably benign |
Het |
| Sult2a1 |
A |
G |
7: 13,569,884 (GRCm39) |
|
probably null |
Het |
| Svopl |
C |
A |
6: 37,996,668 (GRCm39) |
A270S |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,486 (GRCm39) |
|
probably null |
Het |
| Toporsl |
A |
G |
4: 52,610,176 (GRCm39) |
D23G |
probably damaging |
Het |
| Trim30d |
A |
C |
7: 104,137,149 (GRCm39) |
C18W |
probably damaging |
Het |
| Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTCAGCAGCCAGTACCAC -3'
(R):5'- GCCTTTGCGTTAGAAATGGAAGC -3'
Sequencing Primer
(F):5'- GCAGCCAGTACCACAACCTC -3'
(R):5'- TGCGTTAGAAATGGAAGCTAAATTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation