Incidental Mutation 'R0973:Tm9sf1'
| ID |
82973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm9sf1
|
| Ensembl Gene |
ENSMUSG00000002320 |
| Gene Name |
transmembrane 9 superfamily member 1 |
| Synonyms |
MP70, 1200014D02Rik |
| MMRRC Submission |
039102-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R0973 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55873422-55881263 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55880392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 2
(T2A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002391]
[ENSMUST00000120041]
[ENSMUST00000121791]
[ENSMUST00000121937]
[ENSMUST00000122358]
[ENSMUST00000133707]
[ENSMUST00000149726]
[ENSMUST00000132338]
[ENSMUST00000138085]
|
| AlphaFold |
Q9DBU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002391
AA Change: T2A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320
AA Change: T2A
| 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: ENSMUST00000120041
AA Change: T2A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320
AA Change: T2A
| 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: ENSMUST00000121791
AA Change: T2A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320
AA Change: T2A
| 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: T2A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320
AA Change: T2A
| 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 benign
Transcript: ENSMUST00000122358
AA Change: T2A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320
AA Change: T2A
| 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 |
possibly damaging
Transcript: ENSMUST00000133707
AA Change: T2A
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123471
Gene: ENSMUSG00000002320
AA Change: T2A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
118 |
1e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149726
AA Change: T2A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115403
Gene: ENSMUSG00000002320
AA Change: T2A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
390 |
1.7e-103 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132338
AA Change: T2A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320
AA Change: T2A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
57 |
477 |
9.2e-142 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138085
AA Change: T2A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119435
Gene: ENSMUSG00000002320
AA Change: T2A
| 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 |
noncoding transcript
Transcript: ENSMUST00000228007
|
| Meta Mutation Damage Score |
0.0807 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 92.6%
|
| Validation Efficiency |
97% (70/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,997 (GRCm39) |
|
probably null |
Het |
| Adam18 |
T |
C |
8: 25,137,869 (GRCm39) |
T324A |
probably benign |
Het |
| AI429214 |
A |
G |
8: 37,461,473 (GRCm39) |
Q207R |
probably benign |
Het |
| Asic5 |
C |
T |
3: 81,915,755 (GRCm39) |
|
probably benign |
Het |
| Atp13a1 |
T |
C |
8: 70,254,794 (GRCm39) |
|
probably null |
Het |
| Atp6v0a1 |
T |
A |
11: 100,946,317 (GRCm39) |
L770* |
probably null |
Het |
| B3gnt5 |
T |
A |
16: 19,588,760 (GRCm39) |
D326E |
probably damaging |
Het |
| Btbd9 |
T |
A |
17: 30,518,607 (GRCm39) |
D451V |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,724,300 (GRCm39) |
*366W |
probably null |
Het |
| Cdcp3 |
T |
C |
7: 130,839,911 (GRCm39) |
L611P |
probably damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,185,767 (GRCm39) |
V248E |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,436,819 (GRCm39) |
S574P |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,806,209 (GRCm39) |
|
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,128,412 (GRCm39) |
S858P |
probably damaging |
Het |
| Cxcl1 |
A |
T |
5: 91,039,626 (GRCm39) |
K85* |
probably null |
Het |
| Daam1 |
A |
C |
12: 71,962,558 (GRCm39) |
K90T |
unknown |
Het |
| Dip2c |
G |
A |
13: 9,626,944 (GRCm39) |
A632T |
probably damaging |
Het |
| Dmtf1 |
T |
A |
5: 9,177,987 (GRCm39) |
I391F |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,579,710 (GRCm39) |
V3081A |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,896,663 (GRCm39) |
|
probably null |
Het |
| Efemp1 |
A |
G |
11: 28,804,538 (GRCm39) |
E22G |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,591,038 (GRCm39) |
D65G |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,807,436 (GRCm39) |
T1252S |
probably benign |
Het |
| Gm12500 |
T |
C |
3: 107,993,792 (GRCm39) |
|
probably null |
Het |
| Gm6327 |
T |
C |
16: 12,578,977 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
T |
C |
9: 118,366,341 (GRCm39) |
I365T |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,053,766 (GRCm39) |
L65Q |
probably damaging |
Het |
| Ice1 |
C |
A |
13: 70,750,546 (GRCm39) |
V1847L |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,415,262 (GRCm39) |
|
probably benign |
Het |
| Kbtbd7 |
A |
G |
14: 79,664,870 (GRCm39) |
E234G |
possibly damaging |
Het |
| Khsrp |
T |
C |
17: 57,332,576 (GRCm39) |
T235A |
probably benign |
Het |
| Klk13 |
T |
C |
7: 43,370,582 (GRCm39) |
|
probably null |
Het |
| Lgals8 |
A |
T |
13: 12,466,276 (GRCm39) |
|
probably benign |
Het |
| Lrfn5 |
G |
A |
12: 61,890,223 (GRCm39) |
G504D |
probably damaging |
Het |
| Map6 |
G |
A |
7: 98,985,950 (GRCm39) |
G821D |
possibly damaging |
Het |
| Mcpt8 |
T |
C |
14: 56,321,257 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,223,346 (GRCm39) |
I222N |
probably damaging |
Het |
| Myh7b |
G |
A |
2: 155,462,347 (GRCm39) |
C350Y |
probably benign |
Het |
| Naa25 |
T |
C |
5: 121,576,779 (GRCm39) |
|
probably benign |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Olfm3 |
C |
A |
3: 114,895,635 (GRCm39) |
S172R |
probably benign |
Het |
| Or13e8 |
A |
G |
4: 43,696,706 (GRCm39) |
S156P |
probably damaging |
Het |
| Or1j14 |
A |
G |
2: 36,418,020 (GRCm39) |
I199V |
probably benign |
Het |
| Or4c1 |
A |
T |
2: 89,133,528 (GRCm39) |
I136N |
probably damaging |
Het |
| Or5d40 |
A |
T |
2: 88,015,322 (GRCm39) |
T34S |
probably benign |
Het |
| Pacs1 |
A |
T |
19: 5,193,857 (GRCm39) |
D557E |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,122,883 (GRCm39) |
D343G |
possibly damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,561,305 (GRCm39) |
T438A |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,447,907 (GRCm39) |
W857R |
probably damaging |
Het |
| Pm20d2 |
T |
A |
4: 33,174,734 (GRCm39) |
|
probably benign |
Het |
| Rilpl1 |
A |
G |
5: 124,639,951 (GRCm39) |
I122T |
possibly damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,639,934 (GRCm39) |
S156P |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Saxo2 |
A |
G |
7: 82,284,078 (GRCm39) |
V260A |
probably benign |
Het |
| Skint1 |
T |
G |
4: 111,885,412 (GRCm39) |
|
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,850,725 (GRCm39) |
F533S |
probably benign |
Het |
| Slc38a4 |
C |
T |
15: 96,903,739 (GRCm39) |
V421M |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,282,774 (GRCm39) |
|
probably null |
Het |
| Spag7 |
A |
G |
11: 70,560,008 (GRCm39) |
|
probably benign |
Het |
| Sri |
A |
T |
5: 8,109,381 (GRCm39) |
Q55L |
probably damaging |
Het |
| Tmco5 |
A |
G |
2: 116,713,699 (GRCm39) |
T122A |
probably benign |
Het |
| Tmem59l |
G |
A |
8: 70,938,710 (GRCm39) |
P124S |
possibly damaging |
Het |
| Trpv6 |
T |
A |
6: 41,602,122 (GRCm39) |
T396S |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,228,276 (GRCm39) |
Y780* |
probably null |
Het |
| Usp24 |
A |
G |
4: 106,270,875 (GRCm39) |
|
probably null |
Het |
| Utp25 |
A |
T |
1: 192,797,011 (GRCm39) |
N573K |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,319 (GRCm39) |
F114L |
probably damaging |
Het |
| Zfp626 |
G |
A |
7: 27,517,907 (GRCm39) |
R296H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCAGGACAGCAGACTGGAAGC -3'
(R):5'- CGTTGCTATAGAAACGGGTTGGCAC -3'
Sequencing Primer
(F):5'- AAGCTGATAGTAGTGGTAAGTTTCC -3'
(R):5'- GGCCTAGAGGCGTGAAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation