Incidental Mutation 'IGL01102:Tm9sf1'
| ID |
52680 |
| 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: 0.170)
|
| Stock # |
IGL01102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55873422-55881263 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55880224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 58
(T58S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002391]
[ENSMUST00000120041]
[ENSMUST00000121791]
[ENSMUST00000121937]
[ENSMUST00000122358]
[ENSMUST00000149726]
[ENSMUST00000132338]
[ENSMUST00000133707]
[ENSMUST00000138085]
|
| AlphaFold |
Q9DBU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002391
AA Change: T58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320
AA Change: T58S
| 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 damaging
Transcript: ENSMUST00000120041
AA Change: T58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320
AA Change: T58S
| 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 damaging
Transcript: ENSMUST00000121791
AA Change: T58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320
AA Change: T58S
| 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 damaging
Transcript: ENSMUST00000121937
AA Change: T58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320
AA Change: T58S
| 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 damaging
Transcript: ENSMUST00000122358
AA Change: T58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320
AA Change: T58S
| 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 |
probably damaging
Transcript: ENSMUST00000149726
AA Change: T58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115403
Gene: ENSMUSG00000002320
AA Change: T58S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
390 |
1.7e-103 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132338
AA Change: T58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320
AA Change: T58S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
477 |
9.2e-142 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133707
AA Change: T58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123471
Gene: ENSMUSG00000002320
AA Change: T58S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
118 |
1e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138085
AA Change: T58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119435
Gene: ENSMUSG00000002320
AA Change: T58S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
172 |
2.9e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228007
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,323,968 (GRCm39) |
|
probably benign |
Het |
| Bloc1s2-ps |
C |
T |
2: 52,509,914 (GRCm39) |
A50V |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,627,240 (GRCm39) |
L435P |
probably benign |
Het |
| Col4a3 |
A |
G |
1: 82,647,441 (GRCm39) |
D455G |
unknown |
Het |
| Col4a3 |
A |
G |
1: 82,647,976 (GRCm39) |
I496V |
unknown |
Het |
| Coro1c |
A |
T |
5: 113,987,675 (GRCm39) |
M222K |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,410,149 (GRCm39) |
|
probably null |
Het |
| Emc4 |
C |
A |
2: 112,197,871 (GRCm39) |
|
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,738,842 (GRCm39) |
D32G |
possibly damaging |
Het |
| Fhip1a |
A |
G |
3: 85,572,808 (GRCm39) |
|
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,896,828 (GRCm39) |
K559E |
probably damaging |
Het |
| Gckr |
T |
C |
5: 31,466,381 (GRCm39) |
L452P |
probably damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,124 (GRCm39) |
V323A |
probably damaging |
Het |
| Gm6902 |
T |
A |
7: 22,973,087 (GRCm39) |
I147L |
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,841,755 (GRCm39) |
V220A |
probably benign |
Het |
| Hdac6 |
A |
G |
X: 7,813,237 (GRCm39) |
S42P |
probably benign |
Het |
| Hdhd2 |
A |
G |
18: 77,044,607 (GRCm39) |
N128S |
probably damaging |
Het |
| Hsd3b2 |
G |
T |
3: 98,618,995 (GRCm39) |
R317S |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,400,909 (GRCm39) |
I474F |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,255,102 (GRCm39) |
Y954C |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,679,445 (GRCm39) |
F196L |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,852,339 (GRCm39) |
V957A |
possibly damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,125 (GRCm39) |
M167T |
probably damaging |
Het |
| Mterf4 |
C |
T |
1: 93,232,812 (GRCm39) |
R13H |
possibly damaging |
Het |
| Npffr1 |
T |
G |
10: 61,449,987 (GRCm39) |
V87G |
probably damaging |
Het |
| Or5h18 |
G |
A |
16: 58,848,192 (GRCm39) |
P26L |
probably benign |
Het |
| Or6c76b |
A |
G |
10: 129,692,497 (GRCm39) |
I37V |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,645,423 (GRCm39) |
L386P |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,799,653 (GRCm39) |
I708T |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,090,195 (GRCm39) |
I412V |
probably benign |
Het |
| Ramp2 |
T |
A |
11: 101,138,453 (GRCm39) |
Y85N |
probably benign |
Het |
| Rnf217 |
A |
G |
10: 31,484,499 (GRCm39) |
Y228H |
probably damaging |
Het |
| Rock1 |
T |
G |
18: 10,080,502 (GRCm39) |
D1014A |
probably benign |
Het |
| Scyl3 |
T |
A |
1: 163,762,338 (GRCm39) |
C101* |
probably null |
Het |
| Sema6b |
G |
T |
17: 56,439,761 (GRCm39) |
L27I |
possibly damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,400,369 (GRCm39) |
V97A |
probably benign |
Het |
| Strc |
C |
A |
2: 121,195,541 (GRCm39) |
R1636L |
probably benign |
Het |
| Tmem106c |
T |
C |
15: 97,864,825 (GRCm39) |
Y85H |
probably damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,990,811 (GRCm39) |
|
probably null |
Het |
| Vps13a |
A |
G |
19: 16,628,781 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
T |
7: 42,263,333 (GRCm39) |
L168* |
probably null |
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 |
|
IGL02263:Tm9sf1
|
APN |
14 |
55,880,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2013-06-21 |
Incidental Mutation