Incidental Mutation 'IGL02263:Tm9sf1'
ID |
286819 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tm9sf1
|
Ensembl Gene |
ENSMUSG00000002320 |
Gene Name |
transmembrane 9 superfamily member 1 |
Synonyms |
MP70, 1200014D02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.171)
|
Stock # |
IGL02263
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55873422-55881263 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55880392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 2
(T2A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002391]
[ENSMUST00000120041]
[ENSMUST00000121791]
[ENSMUST00000121937]
[ENSMUST00000122358]
[ENSMUST00000133707]
[ENSMUST00000149726]
[ENSMUST00000132338]
[ENSMUST00000138085]
|
AlphaFold |
Q9DBU0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002391
AA Change: T2A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000002391 Gene: ENSMUSG00000002320 AA Change: T2A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
564 |
1.3e-187 |
PFAM |
transmembrane domain
|
569 |
591 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120041
AA Change: T2A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000112893 Gene: ENSMUSG00000002320 AA Change: T2A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
564 |
1.3e-187 |
PFAM |
transmembrane domain
|
569 |
591 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121791
AA Change: T2A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000112764 Gene: ENSMUSG00000002320 AA Change: T2A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
564 |
1.3e-187 |
PFAM |
transmembrane domain
|
569 |
591 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121937
AA Change: T2A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113143 Gene: ENSMUSG00000002320 AA Change: T2A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
547 |
9e-169 |
PFAM |
transmembrane domain
|
550 |
572 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122358
AA Change: T2A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000113782 Gene: ENSMUSG00000002320 AA Change: T2A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
58 |
563 |
2.3e-164 |
PFAM |
transmembrane domain
|
569 |
591 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130167
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133707
AA Change: T2A
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000123471 Gene: ENSMUSG00000002320 AA Change: T2A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
118 |
1e-20 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149726
AA Change: T2A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000115403 Gene: ENSMUSG00000002320 AA Change: T2A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
390 |
1.7e-103 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132338
AA Change: T2A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118427 Gene: ENSMUSG00000002320 AA Change: T2A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
477 |
9.2e-142 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138085
AA Change: T2A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000119435 Gene: ENSMUSG00000002320 AA Change: T2A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:EMP70
|
57 |
172 |
2.9e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146588
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228007
|
Meta Mutation Damage Score |
0.0807 |
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
A |
G |
1: 38,574,680 (GRCm39) |
V100A |
probably damaging |
Het |
Agmo |
T |
A |
12: 37,407,696 (GRCm39) |
N193K |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,948,139 (GRCm39) |
I1910V |
probably benign |
Het |
Dsg2 |
T |
A |
18: 20,723,077 (GRCm39) |
S368T |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,292,259 (GRCm39) |
T1270A |
probably benign |
Het |
Ina |
T |
C |
19: 47,003,926 (GRCm39) |
S245P |
probably damaging |
Het |
Katnb1 |
A |
G |
8: 95,816,703 (GRCm39) |
K96R |
probably damaging |
Het |
Kcnj4 |
A |
G |
15: 79,369,988 (GRCm39) |
|
probably benign |
Het |
Kcnn3 |
A |
G |
3: 89,568,525 (GRCm39) |
H601R |
possibly damaging |
Het |
Lrrc25 |
C |
A |
8: 71,070,472 (GRCm39) |
F84L |
probably benign |
Het |
Ltb |
A |
G |
17: 35,414,977 (GRCm39) |
Y259C |
probably damaging |
Het |
Macc1 |
T |
G |
12: 119,409,752 (GRCm39) |
N173K |
possibly damaging |
Het |
Med17 |
A |
T |
9: 15,178,772 (GRCm39) |
N466K |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,244,987 (GRCm39) |
N570K |
probably damaging |
Het |
Or52ae9 |
A |
T |
7: 103,390,262 (GRCm39) |
F62I |
probably damaging |
Het |
Or5w1 |
A |
T |
2: 87,486,543 (GRCm39) |
C241S |
probably damaging |
Het |
Or8k20 |
T |
A |
2: 86,106,546 (GRCm39) |
Y95F |
probably benign |
Het |
Plb1 |
T |
C |
5: 32,478,692 (GRCm39) |
|
probably benign |
Het |
Ptprk |
G |
A |
10: 27,951,110 (GRCm39) |
V12I |
unknown |
Het |
Rabggta |
G |
A |
14: 55,956,418 (GRCm39) |
|
probably benign |
Het |
Slc41a2 |
A |
G |
10: 83,149,364 (GRCm39) |
V193A |
possibly damaging |
Het |
Thbs1 |
A |
G |
2: 117,950,361 (GRCm39) |
N665D |
probably benign |
Het |
Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
Vmn1r91 |
A |
G |
7: 19,835,768 (GRCm39) |
D229G |
probably benign |
Het |
Vmn2r7 |
A |
C |
3: 64,598,868 (GRCm39) |
V654G |
probably damaging |
Het |
|
Other mutations in Tm9sf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00841:Tm9sf1
|
APN |
14 |
55,880,184 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01102:Tm9sf1
|
APN |
14 |
55,880,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Tm9sf1
|
UTSW |
14 |
55,875,392 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0242:Tm9sf1
|
UTSW |
14 |
55,875,392 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0469:Tm9sf1
|
UTSW |
14 |
55,878,886 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0928:Tm9sf1
|
UTSW |
14 |
55,873,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Tm9sf1
|
UTSW |
14 |
55,880,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0973:Tm9sf1
|
UTSW |
14 |
55,880,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0974:Tm9sf1
|
UTSW |
14 |
55,880,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1441:Tm9sf1
|
UTSW |
14 |
55,873,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R1644:Tm9sf1
|
UTSW |
14 |
55,878,757 (GRCm39) |
missense |
probably benign |
0.03 |
R1873:Tm9sf1
|
UTSW |
14 |
55,873,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R2176:Tm9sf1
|
UTSW |
14 |
55,878,866 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2973:Tm9sf1
|
UTSW |
14 |
55,878,571 (GRCm39) |
missense |
probably benign |
0.01 |
R4284:Tm9sf1
|
UTSW |
14 |
55,878,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R4545:Tm9sf1
|
UTSW |
14 |
55,875,565 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4633:Tm9sf1
|
UTSW |
14 |
55,878,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R4816:Tm9sf1
|
UTSW |
14 |
55,878,606 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4943:Tm9sf1
|
UTSW |
14 |
55,878,625 (GRCm39) |
missense |
probably damaging |
0.99 |
R5270:Tm9sf1
|
UTSW |
14 |
55,873,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R5384:Tm9sf1
|
UTSW |
14 |
55,880,301 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5385:Tm9sf1
|
UTSW |
14 |
55,880,301 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5386:Tm9sf1
|
UTSW |
14 |
55,880,301 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5561:Tm9sf1
|
UTSW |
14 |
55,875,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R6246:Tm9sf1
|
UTSW |
14 |
55,873,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R6247:Tm9sf1
|
UTSW |
14 |
55,873,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R6248:Tm9sf1
|
UTSW |
14 |
55,873,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R7319:Tm9sf1
|
UTSW |
14 |
55,875,432 (GRCm39) |
unclassified |
probably benign |
|
R7659:Tm9sf1
|
UTSW |
14 |
55,873,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R7974:Tm9sf1
|
UTSW |
14 |
55,873,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R9130:Tm9sf1
|
UTSW |
14 |
55,875,464 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Tm9sf1
|
UTSW |
14 |
55,880,293 (GRCm39) |
missense |
probably benign |
0.43 |
X0026:Tm9sf1
|
UTSW |
14 |
55,880,394 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
Posted On |
2015-04-16 |