Incidental Mutation 'IGL02173:Tm9sf2'
| ID |
282966 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tm9sf2
|
| Ensembl Gene |
ENSMUSG00000025544 |
| Gene Name |
transmembrane 9 superfamily member 2 |
| Synonyms |
1500001N15Rik, P76, D14Ertd64e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.881)
|
| Stock # |
IGL02173
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
122344450-122397016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 122380835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 308
(V308F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026624]
[ENSMUST00000171318]
|
| AlphaFold |
P58021 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026624
AA Change: V308F
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026624
Gene: ENSMUSG00000025544
AA Change: V308F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
74 |
619 |
4.5e-209 |
PFAM |
|
transmembrane domain
|
630 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171318
AA Change: V143F
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000131227
Gene: ENSMUSG00000025544
AA Change: V143F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
73 |
112 |
5.9e-9 |
PFAM |
|
Pfam:EMP70
|
109 |
455 |
1e-172 |
PFAM |
|
transmembrane domain
|
465 |
487 |
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 transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,061,754 (GRCm39) |
H68L |
possibly damaging |
Het |
| 4930533K18Rik |
A |
G |
10: 70,708,060 (GRCm39) |
|
noncoding transcript |
Het |
| 4933409G03Rik |
A |
G |
2: 68,443,401 (GRCm39) |
T182A |
unknown |
Het |
| Abca2 |
T |
A |
2: 25,331,909 (GRCm39) |
D1340E |
probably benign |
Het |
| Abcc12 |
G |
A |
8: 87,293,071 (GRCm39) |
A39V |
probably damaging |
Het |
| Acap2 |
T |
C |
16: 30,926,965 (GRCm39) |
R510G |
possibly damaging |
Het |
| Ace |
G |
T |
11: 105,879,817 (GRCm39) |
R719L |
probably benign |
Het |
| Adarb1 |
A |
C |
10: 77,157,659 (GRCm39) |
F263V |
probably damaging |
Het |
| Ahcyl |
T |
C |
16: 45,974,441 (GRCm39) |
N312S |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,748,013 (GRCm39) |
S1130P |
probably benign |
Het |
| Aqp7 |
A |
T |
4: 41,034,379 (GRCm39) |
L260* |
probably null |
Het |
| Cntn5 |
G |
T |
9: 9,748,401 (GRCm39) |
S493R |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,080,165 (GRCm39) |
F138S |
probably damaging |
Het |
| D2hgdh |
T |
A |
1: 93,757,611 (GRCm39) |
D175E |
probably benign |
Het |
| Dtx4 |
G |
T |
19: 12,450,621 (GRCm39) |
Y530* |
probably null |
Het |
| Elp4 |
T |
A |
2: 105,533,088 (GRCm39) |
H419L |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,225,690 (GRCm39) |
D218G |
possibly damaging |
Het |
| Exoc5 |
A |
G |
14: 49,272,258 (GRCm39) |
|
probably benign |
Het |
| Fyb1 |
C |
T |
15: 6,610,176 (GRCm39) |
P250S |
probably benign |
Het |
| Gaa |
A |
G |
11: 119,165,739 (GRCm39) |
Y84C |
probably damaging |
Het |
| Galns |
A |
T |
8: 123,325,365 (GRCm39) |
S262R |
probably damaging |
Het |
| Gfus |
A |
G |
15: 75,798,034 (GRCm39) |
S233P |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,663,906 (GRCm39) |
I345T |
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,934,717 (GRCm39) |
V671A |
probably damaging |
Het |
| Maml3 |
C |
A |
3: 51,598,208 (GRCm39) |
L179F |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,826,318 (GRCm39) |
L1089P |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,357,743 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,778,949 (GRCm39) |
M83T |
possibly damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,037 (GRCm39) |
P291S |
probably damaging |
Het |
| Or7d9 |
T |
C |
9: 20,197,691 (GRCm39) |
V240A |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,378 (GRCm39) |
T74A |
probably benign |
Het |
| Otog |
T |
C |
7: 45,926,165 (GRCm39) |
|
probably benign |
Het |
| Pcbd1 |
A |
G |
10: 60,927,983 (GRCm39) |
|
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,264,248 (GRCm39) |
V164A |
possibly damaging |
Het |
| Pgd |
A |
G |
4: 149,241,210 (GRCm39) |
I233T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,147,330 (GRCm39) |
H733L |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,574,206 (GRCm39) |
N205K |
probably benign |
Het |
| Sstr2 |
G |
T |
11: 113,515,842 (GRCm39) |
V254L |
probably damaging |
Het |
| Tor3a |
T |
C |
1: 156,501,776 (GRCm39) |
K34E |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,164,381 (GRCm39) |
|
probably null |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,117 (GRCm39) |
S167P |
probably damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,759 (GRCm39) |
I413N |
probably damaging |
Het |
|
| Other mutations in Tm9sf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Tm9sf2
|
APN |
14 |
122,380,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01995:Tm9sf2
|
APN |
14 |
122,380,883 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02249:Tm9sf2
|
APN |
14 |
122,361,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02328:Tm9sf2
|
APN |
14 |
122,380,842 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03231:Tm9sf2
|
APN |
14 |
122,378,664 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0367:Tm9sf2
|
UTSW |
14 |
122,392,780 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1959:Tm9sf2
|
UTSW |
14 |
122,363,576 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2251:Tm9sf2
|
UTSW |
14 |
122,377,143 (GRCm39) |
missense |
probably benign |
|
|
R2504:Tm9sf2
|
UTSW |
14 |
122,396,096 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4791:Tm9sf2
|
UTSW |
14 |
122,377,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4795:Tm9sf2
|
UTSW |
14 |
122,387,252 (GRCm39) |
splice site |
probably null |
|
|
R4851:Tm9sf2
|
UTSW |
14 |
122,378,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5063:Tm9sf2
|
UTSW |
14 |
122,382,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Tm9sf2
|
UTSW |
14 |
122,380,913 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5443:Tm9sf2
|
UTSW |
14 |
122,363,607 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5677:Tm9sf2
|
UTSW |
14 |
122,389,374 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5966:Tm9sf2
|
UTSW |
14 |
122,374,921 (GRCm39) |
intron |
probably benign |
|
|
R6465:Tm9sf2
|
UTSW |
14 |
122,378,619 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6873:Tm9sf2
|
UTSW |
14 |
122,382,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Tm9sf2
|
UTSW |
14 |
122,378,640 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7531:Tm9sf2
|
UTSW |
14 |
122,379,824 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8176:Tm9sf2
|
UTSW |
14 |
122,374,913 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8447:Tm9sf2
|
UTSW |
14 |
122,377,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8773:Tm9sf2
|
UTSW |
14 |
122,380,883 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9039:Tm9sf2
|
UTSW |
14 |
122,363,576 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Posted On |
2015-04-16 |
Incidental Mutation