Incidental Mutation 'IGL00985:Tm7sf3'
| ID |
27722 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tm7sf3
|
| Ensembl Gene |
ENSMUSG00000040234 |
| Gene Name |
transmembrane 7 superfamily member 3 |
| Synonyms |
2010003B14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL00985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
146503774-146536103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 146507692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 457
(V457I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037709]
[ENSMUST00000127529]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037709
AA Change: V457I
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000045650
Gene: ENSMUSG00000040234
AA Change: V457I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DUF4203
|
291 |
498 |
8.5e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127529
|
| SMART Domains |
Protein: ENSMUSP00000118517
Gene: ENSMUSG00000040234
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630091E08Rik |
G |
T |
7: 98,193,125 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
G |
A |
7: 119,996,241 (GRCm39) |
G1389E |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,184,600 (GRCm39) |
V92A |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,954,481 (GRCm39) |
S540G |
probably benign |
Het |
| Aplnr |
A |
T |
2: 84,968,007 (GRCm39) |
Y344F |
probably benign |
Het |
| Atm |
A |
T |
9: 53,371,116 (GRCm39) |
V2241E |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,403,023 (GRCm39) |
|
probably benign |
Het |
| Cnpy1 |
A |
T |
5: 28,414,152 (GRCm39) |
Y91* |
probably null |
Het |
| Cobl |
C |
A |
11: 12,204,843 (GRCm39) |
G613W |
probably damaging |
Het |
| Csn1s2a |
T |
C |
5: 87,932,439 (GRCm39) |
S121P |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,585 (GRCm39) |
Y871F |
unknown |
Het |
| Gapvd1 |
T |
A |
2: 34,585,575 (GRCm39) |
D1008V |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,807,401 (GRCm39) |
L515P |
probably damaging |
Het |
| Igfl3 |
T |
C |
7: 17,914,000 (GRCm39) |
|
probably null |
Het |
| Kmt2b |
A |
T |
7: 30,279,352 (GRCm39) |
V1470E |
probably damaging |
Het |
| Mcc |
A |
T |
18: 44,624,306 (GRCm39) |
L413Q |
probably damaging |
Het |
| Mia2 |
G |
A |
12: 59,235,146 (GRCm39) |
G610D |
probably damaging |
Het |
| Mlst8 |
A |
T |
17: 24,696,287 (GRCm39) |
D147E |
probably damaging |
Het |
| Muc19 |
G |
T |
15: 91,770,943 (GRCm39) |
|
noncoding transcript |
Het |
| Mybpc3 |
A |
G |
2: 90,965,704 (GRCm39) |
E1172G |
probably benign |
Het |
| Niban3 |
T |
C |
8: 72,057,507 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
A |
T |
5: 34,802,133 (GRCm39) |
L557Q |
probably damaging |
Het |
| P3h3 |
T |
C |
6: 124,822,552 (GRCm39) |
T540A |
probably benign |
Het |
| Phc3 |
T |
A |
3: 30,968,346 (GRCm39) |
I897F |
probably benign |
Het |
| Plekhh2 |
G |
A |
17: 84,871,356 (GRCm39) |
V205I |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,547,254 (GRCm39) |
K506E |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,471,100 (GRCm39) |
T450K |
probably damaging |
Het |
| Retnlg |
G |
A |
16: 48,694,688 (GRCm39) |
R112H |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 34,151,075 (GRCm39) |
V101A |
probably damaging |
Het |
| Serinc5 |
A |
G |
13: 92,842,779 (GRCm39) |
T410A |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,356,796 (GRCm39) |
V553A |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,768,912 (GRCm39) |
W317R |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,703,790 (GRCm39) |
T268A |
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,399,148 (GRCm39) |
K1044E |
possibly damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,185,900 (GRCm39) |
L431I |
probably damaging |
Het |
| Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
| Tmem132c |
A |
T |
5: 127,581,930 (GRCm39) |
S382C |
probably damaging |
Het |
| Tmprss7 |
C |
A |
16: 45,482,685 (GRCm39) |
C582F |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,816,105 (GRCm39) |
E1694G |
probably damaging |
Het |
| Txndc2 |
G |
T |
17: 65,945,544 (GRCm39) |
S211Y |
possibly damaging |
Het |
| Ubr3 |
A |
C |
2: 69,833,775 (GRCm39) |
T205P |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,620,489 (GRCm39) |
G741D |
probably damaging |
Het |
| Vps8 |
G |
A |
16: 21,296,334 (GRCm39) |
|
probably benign |
Het |
| Wdr19 |
G |
A |
5: 65,409,642 (GRCm39) |
D1127N |
probably benign |
Het |
| Zim1 |
T |
A |
7: 6,685,759 (GRCm39) |
Y83F |
possibly damaging |
Het |
|
| Other mutations in Tm7sf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01930:Tm7sf3
|
APN |
6 |
146,512,431 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02073:Tm7sf3
|
APN |
6 |
146,525,208 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02720:Tm7sf3
|
APN |
6 |
146,514,872 (GRCm39) |
splice site |
probably benign |
|
|
IGL02815:Tm7sf3
|
APN |
6 |
146,514,971 (GRCm39) |
splice site |
probably null |
|
|
IGL03255:Tm7sf3
|
APN |
6 |
146,507,618 (GRCm39) |
unclassified |
probably benign |
|
|
R0245:Tm7sf3
|
UTSW |
6 |
146,520,107 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0402:Tm7sf3
|
UTSW |
6 |
146,507,685 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0687:Tm7sf3
|
UTSW |
6 |
146,523,388 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0763:Tm7sf3
|
UTSW |
6 |
146,507,787 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1419:Tm7sf3
|
UTSW |
6 |
146,505,475 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1511:Tm7sf3
|
UTSW |
6 |
146,511,376 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4880:Tm7sf3
|
UTSW |
6 |
146,511,358 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5930:Tm7sf3
|
UTSW |
6 |
146,505,409 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6160:Tm7sf3
|
UTSW |
6 |
146,507,787 (GRCm39) |
nonsense |
probably null |
|
|
R6229:Tm7sf3
|
UTSW |
6 |
146,514,887 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6755:Tm7sf3
|
UTSW |
6 |
146,511,471 (GRCm39) |
splice site |
probably null |
|
|
R6912:Tm7sf3
|
UTSW |
6 |
146,527,601 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6920:Tm7sf3
|
UTSW |
6 |
146,507,645 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8913:Tm7sf3
|
UTSW |
6 |
146,527,621 (GRCm39) |
nonsense |
probably null |
|
|
R9364:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9365:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9367:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9371:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9372:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9396:Tm7sf3
|
UTSW |
6 |
146,523,472 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9447:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9449:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9450:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9451:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9454:Tm7sf3
|
UTSW |
6 |
146,520,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9495:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9496:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9497:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9514:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9516:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9551:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9552:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9553:Tm7sf3
|
UTSW |
6 |
146,525,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9576:Tm7sf3
|
UTSW |
6 |
146,511,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Tm7sf3
|
UTSW |
6 |
146,527,698 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation