Incidental Mutation 'R9713:Ntm'
| ID |
730320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntm
|
| Ensembl Gene |
ENSMUSG00000059974 |
| Gene Name |
neurotrimin |
| Synonyms |
B230210G24Rik, Hnt, 6230410L23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R9713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
28906046-29874437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29090327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 131
(I131F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075069]
[ENSMUST00000115236]
[ENSMUST00000115237]
|
| AlphaFold |
Q99PJ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075069
AA Change: I131F
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074578
Gene: ENSMUSG00000059974
AA Change: I131F
| 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: I131F
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110891
Gene: ENSMUSG00000059974
AA Change: I131F
| 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: I131F
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110892
Gene: ENSMUSG00000059974
AA Change: I131F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
A |
T |
14: 41,820,060 (GRCm39) |
I107F |
probably benign |
Het |
| Adam20 |
G |
A |
8: 41,248,490 (GRCm39) |
R200H |
probably benign |
Het |
| Ahnak |
GATCTCTAT |
GAT |
19: 8,984,393 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,528,556 (GRCm39) |
I277N |
probably damaging |
Het |
| Atp11b |
A |
T |
3: 35,885,560 (GRCm39) |
Y851F |
probably damaging |
Het |
| Cdhr1 |
A |
G |
14: 36,801,751 (GRCm39) |
S731P |
probably damaging |
Het |
| Csf2rb2 |
A |
G |
15: 78,176,730 (GRCm39) |
S221P |
possibly damaging |
Het |
| Dact3 |
A |
T |
7: 16,620,292 (GRCm39) |
I596F |
unknown |
Het |
| Eya4 |
A |
T |
10: 23,027,870 (GRCm39) |
Y287* |
probably null |
Het |
| Folr2 |
T |
C |
7: 101,489,809 (GRCm39) |
D153G |
probably benign |
Het |
| Gal3st2b |
A |
T |
1: 93,866,409 (GRCm39) |
I37L |
probably benign |
Het |
| H2ac8 |
G |
A |
13: 23,755,041 (GRCm39) |
P81L |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,823,328 (GRCm39) |
M1027T |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Hsd17b2 |
A |
T |
8: 118,485,342 (GRCm39) |
|
probably null |
Het |
| Igkv4-74 |
A |
G |
6: 69,161,993 (GRCm39) |
Y59H |
probably damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,489 (GRCm39) |
V70A |
probably benign |
Het |
| Klrh1 |
A |
G |
6: 129,752,359 (GRCm39) |
V52A |
possibly damaging |
Het |
| Ly9 |
A |
C |
1: 171,428,756 (GRCm39) |
I288S |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,678 (GRCm39) |
E3208G |
probably benign |
Het |
| Myo1b |
G |
A |
1: 51,818,766 (GRCm39) |
T503I |
possibly damaging |
Het |
| Odad1 |
T |
G |
7: 45,578,562 (GRCm39) |
V45G |
probably damaging |
Het |
| Or1p4-ps1 |
A |
G |
11: 74,208,078 (GRCm39) |
T76A |
probably damaging |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,633 (GRCm39) |
*317Q |
probably null |
Het |
| Or52ae7 |
C |
T |
7: 103,119,914 (GRCm39) |
L223F |
possibly damaging |
Het |
| Or5b108 |
A |
T |
19: 13,168,727 (GRCm39) |
Y232F |
probably benign |
Het |
| Or8k38 |
T |
C |
2: 86,488,041 (GRCm39) |
T254A |
possibly damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,828,123 (GRCm39) |
S1317P |
probably damaging |
Het |
| Spaca6 |
T |
A |
17: 18,058,498 (GRCm39) |
Y39* |
probably null |
Het |
| Spen |
G |
A |
4: 141,244,331 (GRCm39) |
R235C |
unknown |
Het |
| Sycp2l |
C |
A |
13: 41,326,183 (GRCm39) |
A746D |
probably damaging |
Het |
| Tgm3 |
A |
G |
2: 129,867,229 (GRCm39) |
E158G |
possibly damaging |
Het |
| Trim26 |
A |
T |
17: 37,168,307 (GRCm39) |
D324V |
probably damaging |
Het |
| Ttc9b |
T |
C |
7: 27,353,475 (GRCm39) |
S42P |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,682,434 (GRCm39) |
E952* |
probably null |
Het |
| Ulk4 |
C |
A |
9: 120,873,862 (GRCm39) |
E1190* |
probably null |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,458 (GRCm39) |
S229T |
probably damaging |
Het |
| Wwc1 |
C |
A |
11: 35,766,576 (GRCm39) |
A560S |
probably benign |
Het |
| Zfp787 |
A |
G |
7: 6,146,059 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACGGGTCTATGGCATGG -3'
(R):5'- GCAGTACCATCCTCTATGCTGG -3'
Sequencing Primer
(F):5'- GCATGGTATATATGTACAGCAACCG -3'
(R):5'- GTACCATCCTCTATGCTGGAAATGAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation