Incidental Mutation 'IGL02862:Tm6sf1'
| ID |
362188 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tm6sf1
|
| Ensembl Gene |
ENSMUSG00000038623 |
| Gene Name |
transmembrane 6 superfamily member 1 |
| Synonyms |
C630016D09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL02862
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
81508749-81534182 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81520504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 62
(V62D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041890]
[ENSMUST00000119543]
[ENSMUST00000126334]
|
| AlphaFold |
P58749 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041890
AA Change: V153D
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038017
Gene: ENSMUSG00000038623
AA Change: V153D
| 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 damaging
Transcript: ENSMUST00000119543
AA Change: V62D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112400
Gene: ENSMUSG00000038623
AA Change: V62D
| 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: ENSMUST00000130006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208201
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
G |
7: 28,611,659 (GRCm39) |
|
probably benign |
Het |
| Adhfe1 |
T |
C |
1: 9,624,036 (GRCm39) |
L170P |
probably damaging |
Het |
| Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
| Akr1e1 |
T |
C |
13: 4,659,092 (GRCm39) |
T11A |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,347,306 (GRCm39) |
E668G |
probably damaging |
Het |
| Ccdc163 |
G |
A |
4: 116,569,910 (GRCm39) |
|
probably null |
Het |
| Egfr |
A |
T |
11: 16,833,562 (GRCm39) |
Y610F |
probably benign |
Het |
| Ercc3 |
T |
C |
18: 32,376,255 (GRCm39) |
|
probably null |
Het |
| Fasn |
G |
T |
11: 120,709,805 (GRCm39) |
H417Q |
possibly damaging |
Het |
| Gjd2 |
A |
G |
2: 113,843,624 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
C |
T |
6: 91,765,085 (GRCm39) |
R59H |
probably damaging |
Het |
| H2bc11 |
C |
T |
13: 22,227,515 (GRCm39) |
S39L |
possibly damaging |
Het |
| Ighv1-43 |
A |
G |
12: 114,909,859 (GRCm39) |
V21A |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,697,466 (GRCm39) |
G1368D |
probably damaging |
Het |
| Mogs |
G |
T |
6: 83,092,871 (GRCm39) |
G104C |
probably damaging |
Het |
| Nfix |
T |
A |
8: 85,440,475 (GRCm39) |
T472S |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,877,648 (GRCm39) |
V274A |
probably benign |
Het |
| Ovch2 |
A |
T |
7: 107,394,138 (GRCm39) |
V105E |
probably damaging |
Het |
| Pex1 |
G |
T |
5: 3,655,424 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Prl7a1 |
T |
C |
13: 27,823,872 (GRCm39) |
T70A |
probably benign |
Het |
| Shmt2 |
C |
T |
10: 127,354,743 (GRCm39) |
R311Q |
probably benign |
Het |
| St3gal4 |
A |
G |
9: 34,963,543 (GRCm39) |
I255T |
probably benign |
Het |
| Taf8 |
C |
T |
17: 47,805,339 (GRCm39) |
A187T |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,636,262 (GRCm39) |
W537R |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,867 (GRCm39) |
L621H |
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 |
|
|
R0083:Tm6sf1
|
UTSW |
7 |
81,515,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0108: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 |
2015-12-18 |
Incidental Mutation