Incidental Mutation 'IGL02073:Tm7sf3'
ID |
185898 |
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 # |
IGL02073
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
146503774-146536103 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 146525208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 79
(L79P)
|
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: L79P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000045650 Gene: ENSMUSG00000040234 AA Change: L79P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138476
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147027
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930566N20Rik |
C |
A |
3: 156,914,039 (GRCm39) |
|
probably benign |
Het |
6330409D20Rik |
T |
G |
2: 32,630,698 (GRCm39) |
|
probably benign |
Het |
Als2cl |
A |
G |
9: 110,723,407 (GRCm39) |
K659E |
probably benign |
Het |
Bbx |
G |
A |
16: 50,022,854 (GRCm39) |
T702I |
probably damaging |
Het |
Bcas3 |
A |
G |
11: 85,448,263 (GRCm39) |
D405G |
probably damaging |
Het |
Brpf3 |
A |
G |
17: 29,026,370 (GRCm39) |
Y481C |
probably benign |
Het |
Csnk1g1 |
T |
A |
9: 65,909,533 (GRCm39) |
Y217N |
probably damaging |
Het |
Cyp4f37 |
G |
T |
17: 32,846,825 (GRCm39) |
V171L |
possibly damaging |
Het |
Dock8 |
G |
A |
19: 25,178,350 (GRCm39) |
|
probably null |
Het |
Extl3 |
C |
A |
14: 65,313,788 (GRCm39) |
G465W |
probably damaging |
Het |
Fbxo10 |
A |
G |
4: 45,046,349 (GRCm39) |
I587T |
possibly damaging |
Het |
Fstl5 |
A |
C |
3: 76,566,959 (GRCm39) |
|
probably benign |
Het |
Gabbr2 |
T |
C |
4: 46,667,547 (GRCm39) |
N866S |
probably benign |
Het |
Gm4871 |
T |
A |
5: 144,969,388 (GRCm39) |
K44* |
probably null |
Het |
Hnrnpul1 |
T |
C |
7: 25,421,766 (GRCm39) |
|
probably benign |
Het |
Jup |
A |
G |
11: 100,274,215 (GRCm39) |
|
probably benign |
Het |
Mccc2 |
A |
T |
13: 100,136,783 (GRCm39) |
H57Q |
probably benign |
Het |
Myo1a |
A |
T |
10: 127,546,094 (GRCm39) |
D239V |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,974,612 (GRCm39) |
S695T |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,249,743 (GRCm39) |
S1052T |
probably damaging |
Het |
Or5k8 |
A |
G |
16: 58,644,169 (GRCm39) |
I301T |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,899,621 (GRCm39) |
N112K |
possibly damaging |
Het |
Or8c10 |
C |
T |
9: 38,279,603 (GRCm39) |
H244Y |
probably damaging |
Het |
Pcnx3 |
A |
T |
19: 5,729,414 (GRCm39) |
I526K |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,621,102 (GRCm39) |
D974G |
possibly damaging |
Het |
Peg3 |
T |
C |
7: 6,714,001 (GRCm39) |
E407G |
probably damaging |
Het |
Polk |
A |
G |
13: 96,641,059 (GRCm39) |
V166A |
probably damaging |
Het |
Prkar2a |
A |
G |
9: 108,610,322 (GRCm39) |
I184V |
probably damaging |
Het |
Ptpra |
T |
C |
2: 30,333,362 (GRCm39) |
S64P |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,166,340 (GRCm39) |
L768P |
probably damaging |
Het |
Ripk3 |
C |
T |
14: 56,023,482 (GRCm39) |
|
probably null |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sar1b |
T |
C |
11: 51,680,020 (GRCm39) |
|
probably benign |
Het |
Slx |
A |
T |
X: 26,489,755 (GRCm39) |
W89R |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Svep1 |
T |
C |
4: 58,070,104 (GRCm39) |
I2561V |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,624,721 (GRCm39) |
D1743G |
probably benign |
Het |
Trub1 |
A |
T |
19: 57,441,379 (GRCm39) |
M1L |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,651,386 (GRCm39) |
D1577G |
possibly damaging |
Het |
Vat1 |
A |
T |
11: 101,351,405 (GRCm39) |
M312K |
possibly damaging |
Het |
Vmn1r17 |
T |
C |
6: 57,337,787 (GRCm39) |
I193V |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,875,732 (GRCm39) |
I2706V |
possibly damaging |
Het |
Wls |
T |
C |
3: 159,612,890 (GRCm39) |
|
probably null |
Het |
Zfp955b |
A |
G |
17: 33,519,564 (GRCm39) |
T11A |
possibly damaging |
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 |
IGL01930:Tm7sf3
|
APN |
6 |
146,512,431 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |