Incidental Mutation 'IGL02303:Tmod4'
| ID |
287479 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmod4
|
| Ensembl Gene |
ENSMUSG00000005628 |
| Gene Name |
tropomodulin 4 |
| Synonyms |
skeletal tropomodulin, MTMOD, Sk-Tmod |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
IGL02303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95031787-95036520 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 95032953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 30
(Q30K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102846
(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: Q30K
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628
AA Change: Q30K
| 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: Q30K
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628
AA Change: Q30K
| 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: Q30K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116341
Gene: ENSMUSG00000005628
AA Change: Q30K
| 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: ENSMUST00000149898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196728
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173527
|
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,045,376 (GRCm39) |
F319S |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,664,827 (GRCm39) |
D922G |
unknown |
Het |
| Bhlhe41 |
A |
T |
6: 145,809,882 (GRCm39) |
H107Q |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,262,801 (GRCm39) |
H662Q |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,932,021 (GRCm39) |
V1463A |
probably benign |
Het |
| Ebf3 |
A |
T |
7: 136,911,094 (GRCm39) |
V140E |
probably benign |
Het |
| Havcr2 |
T |
A |
11: 46,370,108 (GRCm39) |
|
probably benign |
Het |
| Hexb |
G |
A |
13: 97,313,401 (GRCm39) |
A485V |
probably damaging |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,473 (GRCm39) |
Q57L |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,154,795 (GRCm39) |
S40T |
probably benign |
Het |
| Kcnj8 |
A |
G |
6: 142,515,837 (GRCm39) |
M90T |
probably benign |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,515,155 (GRCm39) |
L2896R |
probably damaging |
Het |
| Ldlrap1 |
A |
T |
4: 134,484,706 (GRCm39) |
I96N |
probably damaging |
Het |
| Leo1 |
A |
G |
9: 75,353,281 (GRCm39) |
|
probably benign |
Het |
| Mbnl2 |
T |
C |
14: 120,642,059 (GRCm39) |
M341T |
probably benign |
Het |
| Nfatc2 |
G |
A |
2: 168,348,821 (GRCm39) |
R669* |
probably null |
Het |
| Nhlrc2 |
T |
A |
19: 56,563,280 (GRCm39) |
V293E |
probably damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,276 (GRCm39) |
F68S |
possibly damaging |
Het |
| Or2at1 |
A |
G |
7: 99,417,179 (GRCm39) |
D270G |
possibly damaging |
Het |
| Or51ag1 |
A |
T |
7: 103,155,295 (GRCm39) |
M286K |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,586,770 (GRCm39) |
Q61R |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,732,147 (GRCm39) |
|
probably null |
Het |
| Pcnt |
T |
C |
10: 76,278,393 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,592,771 (GRCm39) |
Q307K |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,570,730 (GRCm39) |
Y453* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,461,639 (GRCm39) |
V3600I |
possibly damaging |
Het |
| Sybu |
T |
C |
15: 44,536,619 (GRCm39) |
E441G |
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,929,553 (GRCm39) |
H222Q |
probably damaging |
Het |
| Tef |
T |
C |
15: 81,705,496 (GRCm39) |
V173A |
probably benign |
Het |
| Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
| Tpgs1 |
T |
C |
10: 79,511,322 (GRCm39) |
Y155H |
probably damaging |
Het |
| Trib3 |
G |
A |
2: 152,185,070 (GRCm39) |
P60S |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,560,550 (GRCm39) |
T20957S |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,234,460 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,852,763 (GRCm39) |
|
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,168,002 (GRCm39) |
S704P |
unknown |
Het |
| Zfp644 |
G |
A |
5: 106,785,180 (GRCm39) |
R456W |
probably damaging |
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 |
|
|
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 |
|
R6093:Tmod4
|
UTSW |
3 |
95,032,929 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation