Incidental Mutation 'R4545:Tm9sf1'
| ID |
333734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm9sf1
|
| Ensembl Gene |
ENSMUSG00000002320 |
| Gene Name |
transmembrane 9 superfamily member 1 |
| Synonyms |
1200014D02Rik, MP70 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R4545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55635965-55643806 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55638108 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 393
(V393A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002391]
[ENSMUST00000047131]
[ENSMUST00000120041]
[ENSMUST00000121791]
[ENSMUST00000121937]
[ENSMUST00000122358]
[ENSMUST00000125133]
[ENSMUST00000132338]
[ENSMUST00000133707]
[ENSMUST00000135221]
[ENSMUST00000149726]
[ENSMUST00000138085]
[ENSMUST00000148351]
|
| AlphaFold |
Q9DBU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002391
AA Change: V393A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320
AA Change: V393A
| 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: ENSMUST00000047131
|
| SMART Domains |
Protein: ENSMUSP00000036555
Gene: ENSMUSG00000002319
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
24 |
90 |
4.4e-7 |
SMART |
|
Blast:IBN_N
|
101 |
170 |
4e-20 |
BLAST |
|
Blast:IBN_N
|
224 |
293 |
4e-31 |
BLAST |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
395 |
425 |
7.7e-7 |
PFAM |
|
Blast:ARM
|
465 |
499 |
8e-13 |
BLAST |
|
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
811 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
851 |
864 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
901 |
931 |
1.9e-5 |
PFAM |
|
Pfam:HEAT_EZ
|
914 |
969 |
2.3e-9 |
PFAM |
|
low complexity region
|
1043 |
1053 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120041
AA Change: V393A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320
AA Change: V393A
| 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: ENSMUST00000121791
AA Change: V393A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320
AA Change: V393A
| 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: V393A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320
AA Change: V393A
| 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 |
possibly damaging
Transcript: ENSMUST00000122358
AA Change: V393A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320
AA Change: V393A
| 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 |
probably benign
Transcript: ENSMUST00000125133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130167
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132338
AA Change: V393A
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320
AA Change: V393A
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000146588
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139313
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135221
|
| SMART Domains |
Protein: ENSMUSP00000123692
Gene: ENSMUSG00000002319
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
24 |
90 |
4.4e-7 |
SMART |
|
Blast:IBN_N
|
101 |
170 |
3e-20 |
BLAST |
|
Blast:IBN_N
|
224 |
293 |
2e-31 |
BLAST |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
395 |
425 |
7.4e-7 |
PFAM |
|
Blast:ARM
|
465 |
499 |
7e-13 |
BLAST |
|
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149726
|
| SMART Domains |
Protein: ENSMUSP00000115403
Gene: ENSMUSG00000002320
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
390 |
1.7e-103 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148351
|
| SMART Domains |
Protein: ENSMUSP00000117543
Gene: ENSMUSG00000002319
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
24 |
90 |
4.4e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.5292 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
C |
13: 4,507,844 (GRCm38) |
V201G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,534,327 (GRCm38) |
V449A |
probably benign |
Het |
| Ccr1 |
G |
A |
9: 123,964,400 (GRCm38) |
A31V |
probably benign |
Het |
| Chrna6 |
A |
T |
8: 27,406,683 (GRCm38) |
S389T |
probably benign |
Het |
| Clic6 |
C |
T |
16: 92,492,157 (GRCm38) |
|
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,091,918 (GRCm38) |
R2221* |
probably null |
Het |
| Coq8b |
G |
T |
7: 27,233,505 (GRCm38) |
C13F |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,888,629 (GRCm38) |
L1216Q |
possibly damaging |
Het |
| Decr1 |
C |
A |
4: 15,930,979 (GRCm38) |
V118F |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 119,128,078 (GRCm38) |
I796F |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 151,979,941 (GRCm38) |
D516E |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,188,358 (GRCm38) |
V1869M |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,188,738 (GRCm38) |
D1982G |
probably damaging |
Het |
| Gm11808 |
C |
T |
4: 3,973,244 (GRCm38) |
R106H |
probably benign |
Het |
| Gnptab |
G |
A |
10: 88,414,595 (GRCm38) |
D190N |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,556,845 (GRCm38) |
K22E |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,813,222 (GRCm38) |
*1579W |
probably null |
Het |
| Ica1l |
A |
G |
1: 60,013,818 (GRCm38) |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,890,588 (GRCm38) |
L433Q |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,762,567 (GRCm38) |
|
probably null |
Het |
| Klra13-ps |
T |
C |
6: 130,291,269 (GRCm38) |
|
noncoding transcript |
Het |
| Mndal |
A |
T |
1: 173,875,664 (GRCm38) |
Y58* |
probably null |
Het |
| Mvb12b |
G |
C |
2: 33,827,700 (GRCm38) |
P172R |
possibly damaging |
Het |
| Ncapg |
T |
C |
5: 45,671,212 (GRCm38) |
F102L |
probably damaging |
Het |
| Olfr1447 |
T |
A |
19: 12,901,268 (GRCm38) |
K171* |
probably null |
Het |
| Olfr235 |
T |
C |
19: 12,268,824 (GRCm38) |
V198A |
possibly damaging |
Het |
| Olfr390 |
T |
C |
11: 73,787,166 (GRCm38) |
V76A |
probably damaging |
Het |
| Pde8a |
A |
T |
7: 81,328,099 (GRCm38) |
R713S |
probably damaging |
Het |
| Rbks |
T |
C |
5: 31,624,568 (GRCm38) |
N296S |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,694,772 (GRCm38) |
V421I |
probably benign |
Het |
| Tubgcp2 |
G |
A |
7: 139,996,071 (GRCm38) |
P893L |
possibly damaging |
Het |
| Vnn3 |
G |
A |
10: 23,856,326 (GRCm38) |
R158H |
probably benign |
Het |
| Zfa-ps |
G |
T |
10: 52,544,936 (GRCm38) |
|
noncoding transcript |
Het |
| Zfp414 |
T |
C |
17: 33,631,648 (GRCm38) |
|
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,278,745 (GRCm38) |
T289I |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,617,785 (GRCm38) |
R488L |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 21,928,304 (GRCm38) |
G448D |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,366,705 (GRCm38) |
K165E |
possibly damaging |
Het |
|
| Other mutations in Tm9sf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Tm9sf1
|
APN |
14 |
55,642,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01102:Tm9sf1
|
APN |
14 |
55,642,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02263:Tm9sf1
|
APN |
14 |
55,642,935 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0242:Tm9sf1
|
UTSW |
14 |
55,637,935 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0242:Tm9sf1
|
UTSW |
14 |
55,637,935 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0469:Tm9sf1
|
UTSW |
14 |
55,641,429 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0928:Tm9sf1
|
UTSW |
14 |
55,636,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0973:Tm9sf1
|
UTSW |
14 |
55,642,935 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0973:Tm9sf1
|
UTSW |
14 |
55,642,935 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0974:Tm9sf1
|
UTSW |
14 |
55,642,935 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1441:Tm9sf1
|
UTSW |
14 |
55,636,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1644:Tm9sf1
|
UTSW |
14 |
55,641,300 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1873:Tm9sf1
|
UTSW |
14 |
55,636,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2176:Tm9sf1
|
UTSW |
14 |
55,641,409 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R2973:Tm9sf1
|
UTSW |
14 |
55,641,114 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4284:Tm9sf1
|
UTSW |
14 |
55,641,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4633:Tm9sf1
|
UTSW |
14 |
55,641,203 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4816:Tm9sf1
|
UTSW |
14 |
55,641,149 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4943:Tm9sf1
|
UTSW |
14 |
55,641,168 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5270:Tm9sf1
|
UTSW |
14 |
55,636,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5384:Tm9sf1
|
UTSW |
14 |
55,642,844 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5385:Tm9sf1
|
UTSW |
14 |
55,642,844 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5386:Tm9sf1
|
UTSW |
14 |
55,642,844 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5561:Tm9sf1
|
UTSW |
14 |
55,638,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6246:Tm9sf1
|
UTSW |
14 |
55,636,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6247:Tm9sf1
|
UTSW |
14 |
55,636,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6248:Tm9sf1
|
UTSW |
14 |
55,636,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7319:Tm9sf1
|
UTSW |
14 |
55,637,975 (GRCm38) |
unclassified |
probably benign |
|
|
R7659:Tm9sf1
|
UTSW |
14 |
55,636,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7974:Tm9sf1
|
UTSW |
14 |
55,636,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9130:Tm9sf1
|
UTSW |
14 |
55,638,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0025:Tm9sf1
|
UTSW |
14 |
55,642,836 (GRCm38) |
missense |
probably benign |
0.43 |
|
X0026:Tm9sf1
|
UTSW |
14 |
55,642,937 (GRCm38) |
start codon destroyed |
probably null |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACCAACAGTCATGTGGATG -3'
(R):5'- GGTCAAAGTGGATTCAATCAGC -3'
Sequencing Primer
(F):5'- CATGTGGATGACAGTAGACTTGTACC -3'
(R):5'- CAAAGTGGATTCAATCAGCTCTGGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation