Incidental Mutation 'R6093:Tmod4'
| ID |
486029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmod4
|
| Ensembl Gene |
ENSMUSG00000005628 |
| Gene Name |
tropomodulin 4 |
| Synonyms |
skeletal tropomodulin, MTMOD, Sk-Tmod |
| MMRRC Submission |
044250-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R6093 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95031787-95036520 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95032929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 22
(T22S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005769]
[ENSMUST00000009102]
[ENSMUST00000107227]
[ENSMUST00000131597]
[ENSMUST00000172572]
[ENSMUST00000173462]
|
| AlphaFold |
Q9JLH8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005769
AA Change: T22S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628
AA Change: T22S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomodulin
|
4 |
143 |
2.7e-62 |
PFAM |
|
PDB:1IO0|A
|
160 |
343 |
6e-77 |
PDB |
|
SCOP:d1a4ya_
|
184 |
289 |
4e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009102
|
| SMART Domains |
Protein: ENSMUSP00000009102
Gene: ENSMUSG00000008958
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:YL1
|
5 |
216 |
5.1e-58 |
PFAM |
|
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
|
YL1_C
|
294 |
323 |
5.99e-9 |
SMART |
|
low complexity region
|
335 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107227
AA Change: T22S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628
AA Change: T22S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomodulin
|
1 |
144 |
4.4e-72 |
PFAM |
|
PDB:1IO0|A
|
160 |
343 |
6e-77 |
PDB |
|
SCOP:d1a4ya_
|
184 |
289 |
4e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130545
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131597
AA Change: T22S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116341
Gene: ENSMUSG00000005628
AA Change: T22S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomodulin
|
1 |
144 |
1.5e-72 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172572
|
| SMART Domains |
Protein: ENSMUSP00000134337
Gene: ENSMUSG00000092607
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SCNM1
|
44 |
70 |
7.6e-19 |
PFAM |
|
low complexity region
|
133 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173462
|
| SMART Domains |
Protein: ENSMUSP00000133769
Gene: ENSMUSG00000092607
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C2H2
|
42 |
68 |
2e-7 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and exhibit no overt myopathy, with normal thin filament lengths, myofibril organization, and skeletal muscle contractile function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,490,214 (GRCm39) |
|
probably benign |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adgrl3 |
A |
C |
5: 81,794,369 (GRCm39) |
R531S |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,590,517 (GRCm39) |
D1252G |
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,165,114 (GRCm39) |
N648S |
possibly damaging |
Het |
| Antxr2 |
C |
A |
5: 98,178,319 (GRCm39) |
L30F |
probably damaging |
Het |
| Apol9a |
T |
A |
15: 77,288,620 (GRCm39) |
N249I |
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,046,093 (GRCm39) |
V977A |
probably damaging |
Het |
| Clmn |
T |
C |
12: 104,738,215 (GRCm39) |
T968A |
probably benign |
Het |
| Clstn2 |
A |
T |
9: 97,340,263 (GRCm39) |
I703N |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,475,522 (GRCm39) |
T1051A |
probably benign |
Het |
| Csde1 |
A |
G |
3: 102,960,218 (GRCm39) |
Y615C |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,912,356 (GRCm39) |
K314E |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,830,238 (GRCm39) |
I711F |
probably benign |
Het |
| Duox1 |
G |
T |
2: 122,177,755 (GRCm39) |
R1513L |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,283,917 (GRCm39) |
T333A |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,004,880 (GRCm39) |
D658G |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,428,947 (GRCm39) |
L395Q |
probably damaging |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Greb1 |
C |
T |
12: 16,734,487 (GRCm39) |
C1501Y |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,765,471 (GRCm39) |
V1533A |
probably damaging |
Het |
| Kcnc3 |
A |
C |
7: 44,240,932 (GRCm39) |
D208A |
probably benign |
Het |
| Kctd14 |
A |
G |
7: 97,104,160 (GRCm39) |
|
probably benign |
Het |
| Mcm5 |
C |
A |
8: 75,836,374 (GRCm39) |
D13E |
probably benign |
Het |
| Med23 |
A |
G |
10: 24,754,341 (GRCm39) |
I221V |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,320,258 (GRCm39) |
I174V |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,776,535 (GRCm39) |
F64L |
probably damaging |
Het |
| Ncapd3 |
T |
G |
9: 26,967,454 (GRCm39) |
S597A |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,141,782 (GRCm39) |
Y72* |
probably null |
Het |
| Nrip1 |
C |
T |
16: 76,091,652 (GRCm39) |
|
probably benign |
Het |
| Or5h26 |
T |
A |
16: 58,988,330 (GRCm39) |
M59L |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,668,958 (GRCm39) |
D328E |
probably damaging |
Het |
| Phyh |
G |
T |
2: 4,923,896 (GRCm39) |
A6S |
possibly damaging |
Het |
| Pole |
A |
T |
5: 110,459,956 (GRCm39) |
Q1120L |
probably benign |
Het |
| Rbmxl1 |
T |
C |
8: 79,232,572 (GRCm39) |
Y257C |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,759,449 (GRCm39) |
H69Q |
possibly damaging |
Het |
| Tmem167b |
A |
T |
3: 108,469,439 (GRCm39) |
M1K |
probably null |
Het |
| Triml1 |
T |
C |
8: 43,593,755 (GRCm39) |
I149M |
probably benign |
Het |
| Vmn2r108 |
T |
C |
17: 20,701,402 (GRCm39) |
T33A |
probably benign |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,469 (GRCm39) |
R525* |
probably null |
Het |
| Zfp109 |
A |
T |
7: 23,928,558 (GRCm39) |
W292R |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,811,902 (GRCm39) |
A381T |
probably damaging |
Het |
| Zfp791 |
C |
T |
8: 85,840,135 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tmod4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00851:Tmod4
|
APN |
3 |
95,032,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01339:Tmod4
|
APN |
3 |
95,035,608 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01785:Tmod4
|
APN |
3 |
95,032,929 (GRCm39) |
missense |
probably benign |
|
|
IGL02160:Tmod4
|
APN |
3 |
95,036,424 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02303:Tmod4
|
APN |
3 |
95,032,953 (GRCm39) |
missense |
probably benign |
0.24 |
|
2107:Tmod4
|
UTSW |
3 |
95,037,479 (GRCm39) |
splice site |
probably null |
|
|
R0042:Tmod4
|
UTSW |
3 |
95,037,099 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1515:Tmod4
|
UTSW |
3 |
95,035,990 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4210:Tmod4
|
UTSW |
3 |
95,035,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4211:Tmod4
|
UTSW |
3 |
95,035,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6181:Tmod4
|
UTSW |
3 |
95,035,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Tmod4
|
UTSW |
3 |
95,035,617 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6351:Tmod4
|
UTSW |
3 |
95,035,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7417:Tmod4
|
UTSW |
3 |
95,033,174 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7806:Tmod4
|
UTSW |
3 |
95,034,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8272:Tmod4
|
UTSW |
3 |
95,033,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8921:Tmod4
|
UTSW |
3 |
95,033,289 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9508:Tmod4
|
UTSW |
3 |
95,034,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCAGTGTCCTAACTATGGC -3'
(R):5'- AGCTGGCAAGAGCATGTTC -3'
Sequencing Primer
(F):5'- CAGTGTCCTAACTATGGCTGGAC -3'
(R):5'- TTGGGGAACAAATTAAGCACTCTCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation