Incidental Mutation 'R0108:Tm6sf1'
ID |
17563 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tm6sf1
|
Ensembl Gene |
ENSMUSG00000038623 |
Gene Name |
transmembrane 6 superfamily member 1 |
Synonyms |
C630016D09Rik |
MMRRC Submission |
038394-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R0108 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
81508749-81534182 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 81515093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041890]
[ENSMUST00000119543]
[ENSMUST00000119543]
[ENSMUST00000126334]
|
AlphaFold |
P58749 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041890
|
SMART Domains |
Protein: ENSMUSP00000038017 Gene: ENSMUSG00000038623
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
transmembrane domain
|
63 |
82 |
N/A |
INTRINSIC |
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
transmembrane domain
|
167 |
189 |
N/A |
INTRINSIC |
Pfam:DUF2781
|
217 |
356 |
6.9e-23 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000119543
|
SMART Domains |
Protein: ENSMUSP00000112400 Gene: ENSMUSG00000038623
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
Pfam:DUF2781
|
126 |
267 |
9.7e-40 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000119543
|
SMART Domains |
Protein: ENSMUSP00000112400 Gene: ENSMUSG00000038623
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
Pfam:DUF2781
|
126 |
267 |
9.7e-40 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124616
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126334
|
SMART Domains |
Protein: ENSMUSP00000121292 Gene: ENSMUSG00000038623
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
transmembrane domain
|
63 |
82 |
N/A |
INTRINSIC |
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134861
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207657
|
Meta Mutation Damage Score |
0.9494 |
Coding Region Coverage |
- 1x: 87.1%
- 3x: 81.7%
- 10x: 58.7%
- 20x: 25.7%
|
Validation Efficiency |
90% (92/102) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,224,692 (GRCm39) |
N910K |
probably benign |
Het |
Ackr4 |
T |
A |
9: 103,976,387 (GRCm39) |
I187F |
probably benign |
Het |
Adamts12 |
T |
C |
15: 11,311,184 (GRCm39) |
V1147A |
probably benign |
Het |
Adcy2 |
A |
T |
13: 68,800,054 (GRCm39) |
V858E |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,726,523 (GRCm39) |
|
probably benign |
Het |
Atg4c |
C |
T |
4: 99,109,677 (GRCm39) |
H215Y |
possibly damaging |
Het |
Ccdc88a |
T |
A |
11: 29,453,463 (GRCm39) |
S337T |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,111,702 (GRCm39) |
E1996G |
probably damaging |
Het |
Fbxw10 |
A |
G |
11: 62,767,887 (GRCm39) |
T903A |
probably benign |
Het |
Frem2 |
G |
T |
3: 53,555,382 (GRCm39) |
D1718E |
probably benign |
Het |
Gatad2b |
T |
A |
3: 90,265,250 (GRCm39) |
Y576N |
probably damaging |
Het |
Gm136 |
G |
T |
4: 34,746,593 (GRCm39) |
H139Q |
possibly damaging |
Het |
Helq |
C |
A |
5: 100,916,234 (GRCm39) |
E913* |
probably null |
Het |
Itgb7 |
C |
T |
15: 102,131,917 (GRCm39) |
R222H |
probably damaging |
Het |
Lmtk2 |
C |
T |
5: 144,111,103 (GRCm39) |
R608C |
possibly damaging |
Het |
Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
Mpdz |
C |
T |
4: 81,300,042 (GRCm39) |
V319I |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 109,759,071 (GRCm39) |
|
probably benign |
Het |
Nup210l |
A |
G |
3: 90,096,882 (GRCm39) |
T1364A |
probably damaging |
Het |
Or10q1b |
A |
T |
19: 13,683,042 (GRCm39) |
T284S |
probably damaging |
Het |
Pcdha1 |
T |
A |
18: 37,131,809 (GRCm39) |
W293R |
probably benign |
Het |
Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
Plekho2 |
A |
T |
9: 65,466,705 (GRCm39) |
D128E |
probably damaging |
Het |
Pstpip1 |
A |
G |
9: 56,035,050 (GRCm39) |
E341G |
probably benign |
Het |
Rps6ka2 |
G |
A |
17: 7,563,442 (GRCm39) |
D617N |
probably benign |
Het |
Scin |
A |
G |
12: 40,177,986 (GRCm39) |
V83A |
possibly damaging |
Het |
Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
Ttll4 |
G |
T |
1: 74,718,928 (GRCm39) |
V260L |
probably benign |
Het |
Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
|
Other mutations in Tm6sf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02115:Tm6sf1
|
APN |
7 |
81,525,551 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02145:Tm6sf1
|
APN |
7 |
81,513,000 (GRCm39) |
nonsense |
probably null |
|
IGL02472:Tm6sf1
|
APN |
7 |
81,525,572 (GRCm39) |
splice site |
probably benign |
|
IGL02862:Tm6sf1
|
APN |
7 |
81,520,504 (GRCm39) |
missense |
probably damaging |
0.98 |
R0083:Tm6sf1
|
UTSW |
7 |
81,515,093 (GRCm39) |
critical splice donor site |
probably null |
|
R0661:Tm6sf1
|
UTSW |
7 |
81,515,093 (GRCm39) |
critical splice donor site |
probably null |
|
R3019:Tm6sf1
|
UTSW |
7 |
81,525,813 (GRCm39) |
missense |
probably benign |
0.01 |
R4562:Tm6sf1
|
UTSW |
7 |
81,509,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R4825:Tm6sf1
|
UTSW |
7 |
81,515,008 (GRCm39) |
missense |
probably damaging |
0.97 |
R4851:Tm6sf1
|
UTSW |
7 |
81,515,091 (GRCm39) |
missense |
probably null |
1.00 |
R5285:Tm6sf1
|
UTSW |
7 |
81,509,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6454:Tm6sf1
|
UTSW |
7 |
81,525,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R7624:Tm6sf1
|
UTSW |
7 |
81,518,458 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Posted On |
2013-01-31 |