Incidental Mutation 'PIT4687001:Tm9sf3'
| ID |
556212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm9sf3
|
| Ensembl Gene |
ENSMUSG00000025016 |
| Gene Name |
transmembrane 9 superfamily member 3 |
| Synonyms |
2810031D16Rik, 1810073M23Rik, Smbp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4687001 (G1)
|
| Quality Score |
178.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41199283-41252436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41206630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 505
(L505P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025989]
|
| AlphaFold |
Q9ET30 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025989
AA Change: L505P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025989
Gene: ENSMUSG00000025016
AA Change: L505P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
55 |
544 |
6.2e-164 |
PFAM |
|
transmembrane domain
|
549 |
571 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
T |
G |
3: 137,995,596 (GRCm39) |
V333G |
probably damaging |
Het |
| Aggf1 |
A |
G |
13: 95,501,383 (GRCm39) |
L333P |
probably damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,812,803 (GRCm39) |
V502A |
probably benign |
Het |
| Atm |
A |
G |
9: 53,398,112 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
G |
4: 45,949,526 (GRCm39) |
T1594A |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,373,453 (GRCm39) |
D1244E |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,670,385 (GRCm39) |
D638G |
probably damaging |
Het |
| Ctsr |
T |
C |
13: 61,308,346 (GRCm39) |
H266R |
possibly damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,172,036 (GRCm39) |
E711K |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,383,723 (GRCm39) |
S2982P |
probably damaging |
Het |
| Dsg1a |
G |
T |
18: 20,464,755 (GRCm39) |
A417S |
probably benign |
Het |
| Gdpd1 |
T |
C |
11: 86,950,366 (GRCm39) |
D69G |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,050,801 (GRCm39) |
R310H |
possibly damaging |
Het |
| Ifna2 |
G |
A |
4: 88,601,542 (GRCm39) |
H159Y |
possibly damaging |
Het |
| Kptn |
T |
C |
7: 15,859,751 (GRCm39) |
V325A |
probably damaging |
Het |
| Marchf7 |
A |
G |
2: 60,062,622 (GRCm39) |
E143G |
probably damaging |
Het |
| Mcm4 |
A |
G |
16: 15,454,577 (GRCm39) |
L47P |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,659,097 (GRCm39) |
F27S |
possibly damaging |
Het |
| Nod2 |
T |
A |
8: 89,408,274 (GRCm39) |
V967E |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,531,338 (GRCm39) |
R659Q |
probably benign |
Het |
| Or10al4 |
T |
G |
17: 38,037,082 (GRCm39) |
C56G |
probably benign |
Het |
| Or4x12-ps1 |
A |
G |
2: 89,916,733 (GRCm39) |
V24A |
probably benign |
Het |
| Parp10 |
C |
T |
15: 76,125,122 (GRCm39) |
R545Q |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,021,579 (GRCm39) |
E332G |
probably benign |
Het |
| Pramel27 |
C |
T |
4: 143,573,103 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
| Qsox2 |
G |
A |
2: 26,112,300 (GRCm39) |
L81F |
possibly damaging |
Het |
| Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,069,151 (GRCm39) |
D433G |
probably benign |
Het |
| Stpg2 |
T |
C |
3: 138,921,026 (GRCm39) |
I77T |
possibly damaging |
Het |
| Sugp2 |
T |
C |
8: 70,710,162 (GRCm39) |
S928P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,308,390 (GRCm39) |
S722P |
possibly damaging |
Het |
| Szt2 |
A |
T |
4: 118,255,398 (GRCm39) |
S229T |
possibly damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,354 (GRCm39) |
A338T |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,934,814 (GRCm39) |
F489L |
probably damaging |
Het |
| Xpo7 |
A |
T |
14: 70,904,589 (GRCm39) |
Y1015N |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,302 (GRCm39) |
Y333* |
probably null |
Het |
| Zp2 |
T |
C |
7: 119,741,102 (GRCm39) |
T141A |
probably benign |
Het |
|
| Other mutations in Tm9sf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:Tm9sf3
|
APN |
19 |
41,244,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02176:Tm9sf3
|
APN |
19 |
41,235,076 (GRCm39) |
splice site |
probably benign |
|
|
R0504:Tm9sf3
|
UTSW |
19 |
41,236,331 (GRCm39) |
splice site |
probably benign |
|
|
R0564:Tm9sf3
|
UTSW |
19 |
41,233,964 (GRCm39) |
splice site |
probably benign |
|
|
R0586:Tm9sf3
|
UTSW |
19 |
41,244,582 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1224:Tm9sf3
|
UTSW |
19 |
41,211,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Tm9sf3
|
UTSW |
19 |
41,227,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1646:Tm9sf3
|
UTSW |
19 |
41,211,618 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1748:Tm9sf3
|
UTSW |
19 |
41,244,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2022:Tm9sf3
|
UTSW |
19 |
41,227,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2172:Tm9sf3
|
UTSW |
19 |
41,205,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3844:Tm9sf3
|
UTSW |
19 |
41,205,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3878:Tm9sf3
|
UTSW |
19 |
41,235,152 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4384:Tm9sf3
|
UTSW |
19 |
41,236,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4385:Tm9sf3
|
UTSW |
19 |
41,236,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4582:Tm9sf3
|
UTSW |
19 |
41,244,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Tm9sf3
|
UTSW |
19 |
41,203,555 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5876:Tm9sf3
|
UTSW |
19 |
41,229,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6305:Tm9sf3
|
UTSW |
19 |
41,233,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6924:Tm9sf3
|
UTSW |
19 |
41,206,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6936:Tm9sf3
|
UTSW |
19 |
41,211,638 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7121:Tm9sf3
|
UTSW |
19 |
41,233,944 (GRCm39) |
nonsense |
probably null |
|
|
R7287:Tm9sf3
|
UTSW |
19 |
41,205,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Tm9sf3
|
UTSW |
19 |
41,227,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7677:Tm9sf3
|
UTSW |
19 |
41,209,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8212:Tm9sf3
|
UTSW |
19 |
41,229,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8220:Tm9sf3
|
UTSW |
19 |
41,203,526 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8715:Tm9sf3
|
UTSW |
19 |
41,244,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Tm9sf3
|
UTSW |
19 |
41,235,202 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Tm9sf3
|
UTSW |
19 |
41,235,201 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1088:Tm9sf3
|
UTSW |
19 |
41,220,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tm9sf3
|
UTSW |
19 |
41,227,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tm9sf3
|
UTSW |
19 |
41,233,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTCCTCAGCTTGACAAG -3'
(R):5'- ACTGTTTGGGAATTACTAGGAAGG -3'
Sequencing Primer
(F):5'- CCTCAGCTTGACAAGTTTCAGATG -3'
(R):5'- AGGGTGATAATGAGTTTTAAGTGAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation