Incidental Mutation 'R0042:Tmod4'
| ID |
15691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmod4
|
| Ensembl Gene |
ENSMUSG00000005628 |
| Gene Name |
tropomodulin 4 |
| Synonyms |
skeletal tropomodulin, MTMOD, Sk-Tmod |
| MMRRC Submission |
038336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R0042 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95031787-95036520 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95037099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 164
(D164G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005769]
[ENSMUST00000066386]
[ENSMUST00000107227]
[ENSMUST00000131597]
[ENSMUST00000173462]
[ENSMUST00000172572]
|
| AlphaFold |
Q9JLH8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005769
|
| SMART Domains |
Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628
| 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: ENSMUST00000066386
|
| SMART Domains |
Protein: ENSMUSP00000067811
Gene: ENSMUSG00000053769
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
19 |
N/A |
INTRINSIC |
|
LysM
|
41 |
85 |
2.58e-7 |
SMART |
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107227
|
| SMART Domains |
Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628
| 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: ENSMUST00000130545
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131597
|
| SMART Domains |
Protein: ENSMUSP00000116341
Gene: ENSMUSG00000005628
| 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 |
possibly damaging
Transcript: ENSMUST00000173462
AA Change: D164G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133769
Gene: ENSMUSG00000092607
AA Change: D164G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C2H2
|
42 |
68 |
2e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196728
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199730
|
| 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 |
|
| Meta Mutation Damage Score |
0.0839 |
| Coding Region Coverage |
- 1x: 81.9%
- 3x: 73.7%
- 10x: 53.7%
- 20x: 34.5%
|
| Validation Efficiency |
94% (58/62) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,059,245 (GRCm39) |
|
probably benign |
Het |
| Adgrf3 |
A |
G |
5: 30,402,426 (GRCm39) |
L534P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,730,280 (GRCm39) |
D3568G |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,809,409 (GRCm39) |
|
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,326,335 (GRCm39) |
V34A |
probably benign |
Het |
| Dmxl1 |
C |
A |
18: 49,997,102 (GRCm39) |
T466K |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,254,713 (GRCm39) |
D373G |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,087,490 (GRCm39) |
V290A |
probably damaging |
Het |
| Gpr179 |
C |
T |
11: 97,225,757 (GRCm39) |
V2133I |
probably benign |
Het |
| Grb10 |
G |
T |
11: 11,886,798 (GRCm39) |
H435Q |
probably damaging |
Het |
| Gzmm |
T |
C |
10: 79,530,399 (GRCm39) |
I190T |
probably benign |
Het |
| H2-Q3 |
A |
G |
17: 35,578,823 (GRCm39) |
|
noncoding transcript |
Het |
| Hspb7 |
A |
G |
4: 141,151,245 (GRCm39) |
E129G |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,449,086 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,557,966 (GRCm39) |
T787A |
possibly damaging |
Het |
| Krt4 |
T |
G |
15: 101,831,187 (GRCm39) |
|
probably benign |
Het |
| Lgsn |
C |
T |
1: 31,229,534 (GRCm39) |
T85I |
probably benign |
Het |
| Metap1 |
C |
T |
3: 138,177,918 (GRCm39) |
V217I |
probably benign |
Het |
| Mib2 |
A |
T |
4: 155,743,897 (GRCm39) |
C48* |
probably null |
Het |
| Mroh4 |
T |
A |
15: 74,482,154 (GRCm39) |
I768F |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,095,624 (GRCm39) |
D361E |
probably damaging |
Het |
| P4hb |
G |
A |
11: 120,459,092 (GRCm39) |
R134C |
probably damaging |
Het |
| Prr35 |
C |
A |
17: 26,166,956 (GRCm39) |
E194* |
probably null |
Het |
| Rbl1 |
A |
G |
2: 157,017,624 (GRCm39) |
|
probably benign |
Het |
| Rdh10 |
T |
A |
1: 16,178,260 (GRCm39) |
|
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,070,377 (GRCm39) |
I842L |
probably benign |
Het |
| Stk32b |
A |
C |
5: 37,874,092 (GRCm39) |
D13E |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,123,192 (GRCm39) |
D708G |
possibly damaging |
Het |
| Taar6 |
T |
C |
10: 23,861,021 (GRCm39) |
D175G |
probably benign |
Het |
| Ttc23l |
A |
C |
15: 10,551,627 (GRCm39) |
L33W |
probably damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,379 (GRCm39) |
Y13H |
probably benign |
Het |
| Utp18 |
G |
T |
11: 93,766,684 (GRCm39) |
T309K |
probably damaging |
Het |
| Vps11 |
G |
T |
9: 44,267,588 (GRCm39) |
Y341* |
probably null |
Het |
| Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
possibly 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 |
|
|
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 |
|
|
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 |
2012-12-21 |
Incidental Mutation