Incidental Mutation 'IGL01930:Tm7sf3'
| ID |
180416 |
| 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 # |
IGL01930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
146503774-146536103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 146512431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 321
(I321S)
|
| 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: I321S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045650
Gene: ENSMUSG00000040234
AA Change: I321S
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
C |
T |
9: 3,134,875 (GRCm39) |
|
noncoding transcript |
Het |
| Acsf3 |
A |
G |
8: 123,507,085 (GRCm39) |
Y126C |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,557,647 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,557,063 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
C |
T |
19: 6,361,398 (GRCm39) |
A308V |
probably damaging |
Het |
| Dek |
T |
C |
13: 47,241,611 (GRCm39) |
I318V |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,940,645 (GRCm39) |
M422V |
possibly damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,189,583 (GRCm39) |
|
probably null |
Het |
| Erbin |
G |
A |
13: 103,977,680 (GRCm39) |
L626F |
probably damaging |
Het |
| Fa2h |
A |
T |
8: 112,075,936 (GRCm39) |
V229E |
possibly damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,036,397 (GRCm39) |
H193Q |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gpr162 |
A |
G |
6: 124,838,575 (GRCm39) |
L25P |
possibly damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,529,475 (GRCm39) |
T52A |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,034,286 (GRCm39) |
V668D |
probably damaging |
Het |
| Or10j2 |
T |
C |
1: 173,098,177 (GRCm39) |
V145A |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,516,751 (GRCm39) |
T1042A |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,857 (GRCm39) |
S735P |
probably damaging |
Het |
| Serpina3n |
T |
A |
12: 104,375,231 (GRCm39) |
L101H |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,145,978 (GRCm39) |
D1674G |
probably damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,455 (GRCm39) |
N98D |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,046,901 (GRCm39) |
R449C |
possibly damaging |
Het |
| Tmem273 |
G |
A |
14: 32,538,814 (GRCm39) |
E92K |
probably benign |
Het |
| Trappc13 |
A |
G |
13: 104,284,586 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr76 |
A |
G |
2: 121,341,303 (GRCm39) |
D116G |
possibly damaging |
Het |
| Zscan18 |
T |
C |
7: 12,509,275 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tm7sf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Tm7sf3
|
APN |
6 |
146,507,692 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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 |
2014-05-07 |
Incidental Mutation