Incidental Mutation 'R4284:Tm9sf1'
| ID |
322007 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4284 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55873422-55881263 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55878780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 204
(Y204C)
|
| 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: Y204C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320
AA Change: Y204C
| 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: Y204C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320
AA Change: Y204C
| 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: Y204C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320
AA Change: Y204C
| 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: Y204C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320
AA Change: Y204C
| 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: Y204C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320
AA Change: Y204C
| 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 |
noncoding transcript
Transcript: ENSMUST00000146588
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149726
AA Change: Y204C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115403
Gene: ENSMUSG00000002320
AA Change: Y204C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
390 |
1.7e-103 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139313
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132338
AA Change: Y204C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320
AA Change: Y204C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
477 |
9.2e-142 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228007
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133707
|
| SMART Domains |
Protein: ENSMUSP00000123471
Gene: ENSMUSG00000002320
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
118 |
1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138085
|
| SMART Domains |
Protein: ENSMUSP00000119435
Gene: ENSMUSG00000002320
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
172 |
2.9e-34 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
| Capg |
T |
C |
6: 72,538,082 (GRCm39) |
Y323H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,139,272 (GRCm39) |
T3314A |
possibly damaging |
Het |
| Cilp |
A |
T |
9: 65,185,560 (GRCm39) |
T552S |
probably damaging |
Het |
| Cox16 |
T |
C |
12: 81,521,293 (GRCm39) |
|
probably null |
Het |
| Ctu2 |
G |
A |
8: 123,204,978 (GRCm39) |
V88I |
probably benign |
Het |
| Elfn1 |
A |
T |
5: 139,958,069 (GRCm39) |
K358* |
probably null |
Het |
| Enpp6 |
T |
C |
8: 47,522,050 (GRCm39) |
F328S |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,104,231 (GRCm39) |
L163P |
probably damaging |
Het |
| Gcfc2 |
G |
A |
6: 81,918,372 (GRCm39) |
R354H |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
C |
T |
1: 131,203,515 (GRCm39) |
|
probably null |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Jmjd6 |
T |
C |
11: 116,733,534 (GRCm39) |
R48G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lilra6 |
T |
C |
7: 3,911,803 (GRCm39) |
H285R |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,310,438 (GRCm39) |
R2712C |
possibly damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Relch |
A |
G |
1: 105,649,012 (GRCm39) |
D717G |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,883,345 (GRCm39) |
T318A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Sox5 |
T |
C |
6: 143,781,055 (GRCm39) |
K570E |
probably damaging |
Het |
| Ssbp1 |
T |
G |
6: 40,454,851 (GRCm39) |
|
probably null |
Het |
| Sult5a1 |
A |
G |
8: 123,875,969 (GRCm39) |
S116P |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,808 (GRCm39) |
D455E |
probably damaging |
Het |
| Tmem161a |
A |
G |
8: 70,630,076 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,623,211 (GRCm39) |
K13663* |
probably null |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTCATTTCGAAGCACACG -3'
(R):5'- GGTCGATGATTTGCCAATCCG -3'
Sequencing Primer
(F):5'- GTCATTTCGAAGCACACGCATTAG -3'
(R):5'- CTACATGGAAGAGAGTGGCTTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation