Incidental Mutation 'R5561:Tm9sf1'
| ID |
436625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm9sf1
|
| Ensembl Gene |
ENSMUSG00000002320 |
| Gene Name |
transmembrane 9 superfamily member 1 |
| Synonyms |
MP70, 1200014D02Rik |
| MMRRC Submission |
043118-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R5561 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55873422-55881263 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55875554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 397
(V397M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002391]
[ENSMUST00000047131]
[ENSMUST00000120041]
[ENSMUST00000121791]
[ENSMUST00000121937]
[ENSMUST00000122358]
[ENSMUST00000125133]
[ENSMUST00000132338]
[ENSMUST00000148351]
[ENSMUST00000149726]
[ENSMUST00000133707]
[ENSMUST00000135221]
[ENSMUST00000138085]
|
| AlphaFold |
Q9DBU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002391
AA Change: V397M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320
AA Change: V397M
| 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 |
probably damaging
Transcript: ENSMUST00000120041
AA Change: V397M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320
AA Change: V397M
| 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: V397M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320
AA Change: V397M
| 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: V397M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320
AA Change: V397M
| 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: V397M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320
AA Change: V397M
| 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 |
probably damaging
Transcript: ENSMUST00000132338
AA Change: V397M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320
AA Change: V397M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
477 |
9.2e-142 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146588
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150951
|
| 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 |
|
| 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: 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: 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: 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630095N17Rik |
T |
C |
1: 75,197,181 (GRCm39) |
|
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,624,683 (GRCm39) |
L3762P |
probably damaging |
Het |
| Amn1 |
G |
A |
6: 149,086,522 (GRCm39) |
R4W |
probably damaging |
Het |
| Atxn1 |
G |
T |
13: 45,720,347 (GRCm39) |
T516N |
possibly damaging |
Het |
| Atxn7 |
A |
T |
14: 14,089,260 (GRCm38) |
T259S |
probably benign |
Het |
| Bsn |
C |
G |
9: 107,982,710 (GRCm39) |
R3681P |
unknown |
Het |
| C8b |
T |
C |
4: 104,641,645 (GRCm39) |
Y194H |
possibly damaging |
Het |
| Ccdc110 |
T |
G |
8: 46,393,646 (GRCm39) |
S119R |
probably benign |
Het |
| Ccdc202 |
C |
A |
14: 96,119,807 (GRCm39) |
A188E |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,704,318 (GRCm39) |
Q123L |
possibly damaging |
Het |
| Clip3 |
A |
G |
7: 29,998,274 (GRCm39) |
D240G |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,004,588 (GRCm39) |
F22S |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,227,860 (GRCm39) |
M354L |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dnase1l3 |
A |
G |
14: 7,967,847 (GRCm38) |
V282A |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,364,028 (GRCm39) |
G4127S |
probably damaging |
Het |
| Eed |
G |
A |
7: 89,617,001 (GRCm39) |
R165W |
probably damaging |
Het |
| Ephb2 |
C |
T |
4: 136,388,717 (GRCm39) |
V627M |
probably damaging |
Het |
| Fancc |
T |
C |
13: 63,465,201 (GRCm39) |
E502G |
possibly damaging |
Het |
| Fbf1 |
T |
C |
11: 116,048,646 (GRCm39) |
D105G |
probably damaging |
Het |
| Fer |
T |
A |
17: 64,344,580 (GRCm39) |
Y246* |
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,532,674 (GRCm39) |
K1792E |
probably damaging |
Het |
| Foxi2 |
A |
G |
7: 135,013,376 (GRCm39) |
D202G |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| H2-DMb2 |
G |
T |
17: 34,364,445 (GRCm39) |
|
probably null |
Het |
| Helq |
G |
T |
5: 100,934,916 (GRCm39) |
D491E |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,436,362 (GRCm39) |
V564A |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,709,425 (GRCm39) |
V320D |
probably damaging |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,197 (GRCm39) |
L420* |
probably null |
Het |
| Ift80 |
T |
G |
3: 68,875,196 (GRCm39) |
N178T |
probably benign |
Het |
| Ing4 |
C |
T |
6: 125,024,023 (GRCm39) |
T89I |
possibly damaging |
Het |
| Lcp1 |
G |
A |
14: 75,449,948 (GRCm39) |
D386N |
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,159,438 (GRCm39) |
I606K |
probably benign |
Het |
| Mllt10 |
T |
A |
2: 18,114,656 (GRCm39) |
M120K |
probably damaging |
Het |
| Morc1 |
G |
T |
16: 48,269,711 (GRCm39) |
L89F |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Nav3 |
C |
A |
10: 109,552,413 (GRCm39) |
D1810Y |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,926,919 (GRCm39) |
T5532M |
probably damaging |
Het |
| Opn3 |
C |
T |
1: 175,493,153 (GRCm39) |
R137H |
probably damaging |
Het |
| Or12j2 |
C |
T |
7: 139,916,065 (GRCm39) |
Q97* |
probably null |
Het |
| Or2d36 |
A |
G |
7: 106,747,297 (GRCm39) |
N258S |
probably benign |
Het |
| Palld |
G |
A |
8: 61,969,619 (GRCm39) |
A993V |
probably damaging |
Het |
| Ppp1r12c |
A |
T |
7: 4,489,355 (GRCm39) |
|
probably null |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
T |
3: 78,995,950 (GRCm39) |
|
probably null |
Het |
| Ring1 |
T |
C |
17: 34,240,432 (GRCm39) |
E382G |
possibly damaging |
Het |
| Rpl22l1 |
T |
A |
3: 28,860,969 (GRCm39) |
N61K |
probably benign |
Het |
| Rpp14 |
A |
G |
14: 8,090,558 (GRCm38) |
|
probably null |
Het |
| Rusc2 |
C |
T |
4: 43,415,932 (GRCm39) |
Q413* |
probably null |
Het |
| Slco3a1 |
A |
G |
7: 73,968,247 (GRCm39) |
I491T |
possibly damaging |
Het |
| Smtnl1 |
C |
T |
2: 84,648,739 (GRCm39) |
V172I |
probably benign |
Het |
| Spats2l |
T |
A |
1: 57,939,780 (GRCm39) |
|
probably null |
Het |
| Spire1 |
T |
A |
18: 67,639,716 (GRCm39) |
N266Y |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,646,041 (GRCm39) |
H473R |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,141,232 (GRCm39) |
R121* |
probably null |
Het |
| Synrg |
G |
A |
11: 83,893,066 (GRCm39) |
|
probably null |
Het |
| Trabd |
T |
C |
15: 88,966,187 (GRCm39) |
M48T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,537,577 (GRCm39) |
I26457F |
possibly damaging |
Het |
| Uggt2 |
C |
T |
14: 119,278,939 (GRCm39) |
R856Q |
probably benign |
Het |
| Ugt1a5 |
T |
A |
1: 88,094,039 (GRCm39) |
M89K |
probably benign |
Het |
| Vmn2r53 |
A |
T |
7: 12,335,347 (GRCm39) |
S104R |
probably damaging |
Het |
| Zdhhc12 |
A |
T |
2: 29,982,496 (GRCm39) |
L53Q |
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 |
|
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 |
|
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'- AAGCCACCAACAGTCATGTGG -3'
(R):5'- GATTCAATCAGCTCTGGCCATC -3'
Sequencing Primer
(F):5'- CATGTGGATGACAGTAGACTTGTACC -3'
(R):5'- AATCAGCTCTGGCCATCTGGAAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation