Incidental Mutation 'IGL00841:Tm9sf1'
| ID |
14475 |
| 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 # |
IGL00841
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55873422-55881263 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55880184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 71
(K71M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002391]
[ENSMUST00000120041]
[ENSMUST00000121791]
[ENSMUST00000121937]
[ENSMUST00000122358]
[ENSMUST00000133707]
[ENSMUST00000149726]
[ENSMUST00000132338]
[ENSMUST00000138085]
|
| AlphaFold |
Q9DBU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002391
AA Change: K71M
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320
AA Change: K71M
| 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: K71M
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320
AA Change: K71M
| 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: K71M
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320
AA Change: K71M
| 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: K71M
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320
AA Change: K71M
| 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: K71M
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320
AA Change: K71M
| 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: ENSMUST00000133707
AA Change: K71M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123471
Gene: ENSMUSG00000002320
AA Change: K71M
| 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: ENSMUST00000149726
AA Change: K71M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115403
Gene: ENSMUSG00000002320
AA Change: K71M
| 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: K71M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320
AA Change: K71M
| 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: ENSMUST00000138085
AA Change: K71M
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119435
Gene: ENSMUSG00000002320
AA Change: K71M
| 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 |
probably benign
Transcript: ENSMUST00000156420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228007
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1b |
T |
C |
13: 96,554,338 (GRCm39) |
|
probably benign |
Het |
| Arl2 |
C |
A |
19: 6,185,999 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,225,689 (GRCm39) |
S514P |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,766,164 (GRCm39) |
S150* |
probably null |
Het |
| Ces1g |
T |
A |
8: 94,029,615 (GRCm39) |
D539V |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,068,064 (GRCm39) |
D752G |
probably damaging |
Het |
| Ctsd |
A |
C |
7: 141,936,418 (GRCm39) |
S128A |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dscam |
G |
A |
16: 96,621,077 (GRCm39) |
L544F |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,346,189 (GRCm39) |
I1566N |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,412,095 (GRCm39) |
H148Q |
probably benign |
Het |
| Ighv1-64 |
A |
T |
12: 115,471,596 (GRCm39) |
M1K |
probably null |
Het |
| Ivd |
T |
C |
2: 118,707,383 (GRCm39) |
V299A |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,222,129 (GRCm39) |
I292V |
probably benign |
Het |
| Mfhas1 |
T |
A |
8: 36,058,040 (GRCm39) |
N838K |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,220,458 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
| Scel |
A |
T |
14: 103,767,431 (GRCm39) |
Q30L |
probably benign |
Het |
| Skp2 |
A |
C |
15: 9,139,574 (GRCm39) |
S40R |
probably benign |
Het |
| Vegfb |
A |
G |
19: 6,963,846 (GRCm39) |
W38R |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,235,094 (GRCm39) |
F588V |
probably damaging |
Het |
| Zfp990 |
C |
A |
4: 145,264,438 (GRCm39) |
L479M |
probably damaging |
Het |
|
| Other mutations in Tm9sf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Tm9sf1
|
APN |
14 |
55,880,224 (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 |
2012-12-06 |
Incidental Mutation