Incidental Mutation 'R0763:Tm7sf3'
| ID |
72506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm7sf3
|
| Ensembl Gene |
ENSMUSG00000040234 |
| Gene Name |
transmembrane 7 superfamily member 3 |
| Synonyms |
2010003B14Rik |
| MMRRC Submission |
038943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R0763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
146503774-146536103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 146507787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 425
(L425S)
|
| 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: L425S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045650
Gene: ENSMUSG00000040234
AA Change: L425S
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
C |
6: 88,815,261 (GRCm39) |
F290V |
probably damaging |
Het |
| Adam26b |
G |
A |
8: 43,973,601 (GRCm39) |
S467L |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,647,244 (GRCm39) |
I3099F |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,188,997 (GRCm39) |
D2137G |
possibly damaging |
Het |
| Arhgdig |
T |
C |
17: 26,419,275 (GRCm39) |
Y48C |
probably damaging |
Het |
| Astn1 |
A |
G |
1: 158,337,460 (GRCm39) |
I389V |
possibly damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,817,226 (GRCm39) |
D920G |
probably benign |
Het |
| BC016579 |
T |
A |
16: 45,449,818 (GRCm39) |
N200I |
probably damaging |
Het |
| Casc3 |
T |
C |
11: 98,722,144 (GRCm39) |
Y661H |
probably damaging |
Het |
| Cep120 |
A |
C |
18: 53,854,809 (GRCm39) |
V442G |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,943,841 (GRCm39) |
Y1557H |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,097,022 (GRCm39) |
Q1485K |
possibly damaging |
Het |
| Cntrl |
T |
C |
2: 35,061,078 (GRCm39) |
F1967L |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 17,077,300 (GRCm39) |
T119M |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 66,046,356 (GRCm39) |
H64R |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,813,703 (GRCm39) |
R2899G |
probably damaging |
Het |
| Foxl2 |
A |
C |
9: 98,838,086 (GRCm39) |
T125P |
probably damaging |
Het |
| Foxred1 |
A |
T |
9: 35,118,769 (GRCm39) |
|
probably null |
Het |
| H2-Eb1 |
T |
A |
17: 34,533,133 (GRCm39) |
|
probably benign |
Het |
| Heatr3 |
T |
C |
8: 88,884,869 (GRCm39) |
S378P |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,445,096 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
T |
G |
3: 20,057,443 (GRCm39) |
R780S |
probably damaging |
Het |
| Ifi44 |
G |
A |
3: 151,455,135 (GRCm39) |
A30V |
probably damaging |
Het |
| Il12rb1 |
G |
A |
8: 71,265,934 (GRCm39) |
|
probably benign |
Het |
| Invs |
G |
A |
4: 48,392,628 (GRCm39) |
G281R |
possibly damaging |
Het |
| Itgax |
C |
A |
7: 127,747,112 (GRCm39) |
|
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,568,218 (GRCm39) |
C762F |
possibly damaging |
Het |
| Lama1 |
C |
T |
17: 68,079,813 (GRCm39) |
P1229S |
probably damaging |
Het |
| Mmp15 |
C |
A |
8: 96,094,856 (GRCm39) |
D243E |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,052,253 (GRCm39) |
T1004A |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,791 (GRCm39) |
V44E |
probably damaging |
Het |
| N4bp2l1 |
C |
A |
5: 150,517,869 (GRCm39) |
R11S |
possibly damaging |
Het |
| Notch4 |
T |
A |
17: 34,784,306 (GRCm39) |
C36* |
probably null |
Het |
| Nwd1 |
A |
G |
8: 73,397,672 (GRCm39) |
D637G |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,782,264 (GRCm39) |
I238T |
probably benign |
Het |
| Pakap |
G |
A |
4: 57,688,441 (GRCm39) |
E95K |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,838,639 (GRCm39) |
D1256G |
possibly damaging |
Het |
| Ppp1r26 |
T |
C |
2: 28,340,379 (GRCm39) |
L3P |
probably damaging |
Het |
| Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
T |
9: 78,460,372 (GRCm39) |
|
probably benign |
Het |
| Slc25a17 |
A |
G |
15: 81,207,907 (GRCm39) |
|
probably benign |
Het |
| Socs4 |
T |
C |
14: 47,528,112 (GRCm39) |
F349S |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,851,238 (GRCm39) |
V306A |
probably damaging |
Het |
| Tchhl1 |
A |
C |
3: 93,378,878 (GRCm39) |
E527D |
probably benign |
Het |
| Tmem266 |
G |
T |
9: 55,322,239 (GRCm39) |
V112L |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,090,539 (GRCm39) |
I223F |
possibly damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,535 (GRCm39) |
G104D |
probably benign |
Het |
| Ttc17 |
G |
T |
2: 94,163,148 (GRCm39) |
A834E |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,561,534 (GRCm39) |
V20664M |
probably damaging |
Het |
| Zbed5 |
T |
C |
5: 129,931,020 (GRCm39) |
V323A |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCATCAGTCCAGTGTCTTACCG -3'
(R):5'- GGCATCAGAATGAACTACAGGGACC -3'
Sequencing Primer
(F):5'- CGTTGGTCTGGAAAGGCAC -3'
(R):5'- gggggaggggaggacag -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation