Incidental Mutation 'R4211:Tmod4'
ID |
319179 |
Institutional Source |
Beutler Lab
|
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 # |
R4211 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
95031787-95036520 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95035140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 215
(D215G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005769]
[ENSMUST00000009102]
[ENSMUST00000107227]
[ENSMUST00000131597]
[ENSMUST00000173462]
[ENSMUST00000172572]
|
AlphaFold |
Q9JLH8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005769
AA Change: D215G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000005769 Gene: ENSMUSG00000005628 AA Change: D215G
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: D215G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102846 Gene: ENSMUSG00000005628 AA Change: D215G
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 |
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: ENSMUST00000173462
|
SMART Domains |
Protein: ENSMUSP00000133769 Gene: ENSMUSG00000092607
Domain | Start | End | E-Value | Type |
Blast:ZnF_C2H2
|
42 |
68 |
2e-7 |
BLAST |
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,283,209 (GRCm39) |
I166V |
probably benign |
Het |
Albfm1 |
T |
G |
5: 90,712,096 (GRCm39) |
V63G |
probably damaging |
Het |
Anapc5 |
T |
C |
5: 122,955,968 (GRCm39) |
E154G |
probably benign |
Het |
Anpep |
A |
T |
7: 79,490,744 (GRCm39) |
Y257* |
probably null |
Het |
Atp8b1 |
A |
T |
18: 64,686,118 (GRCm39) |
D688E |
probably damaging |
Het |
Bub1b |
C |
A |
2: 118,461,459 (GRCm39) |
H670Q |
possibly damaging |
Het |
Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
Castor2 |
T |
C |
5: 134,154,783 (GRCm39) |
|
probably null |
Het |
Clcc1 |
A |
T |
3: 108,570,907 (GRCm39) |
Y105F |
possibly damaging |
Het |
Cr2 |
A |
C |
1: 194,838,636 (GRCm39) |
L671R |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,427,542 (GRCm39) |
V713A |
probably damaging |
Het |
Cyp4a31 |
T |
C |
4: 115,422,210 (GRCm39) |
F65L |
probably benign |
Het |
Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
Dusp22 |
A |
T |
13: 30,892,726 (GRCm39) |
I168F |
probably benign |
Het |
Ecel1 |
A |
G |
1: 87,079,872 (GRCm39) |
S414P |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,174,810 (GRCm39) |
F1968L |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,805,493 (GRCm39) |
T604I |
probably damaging |
Het |
H2-DMb1 |
T |
A |
17: 34,374,547 (GRCm39) |
F66I |
possibly damaging |
Het |
Hgf |
T |
C |
5: 16,819,991 (GRCm39) |
V574A |
probably damaging |
Het |
Hoxa7 |
A |
T |
6: 52,193,605 (GRCm39) |
Y137* |
probably null |
Het |
Ikbke |
T |
A |
1: 131,191,085 (GRCm39) |
I519F |
probably damaging |
Het |
Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,738,070 (GRCm39) |
|
probably benign |
Het |
Larp7 |
T |
A |
3: 127,340,603 (GRCm39) |
R112S |
probably benign |
Het |
Lepr |
C |
T |
4: 101,590,611 (GRCm39) |
A63V |
probably benign |
Het |
Lmx1a |
G |
T |
1: 167,660,428 (GRCm39) |
V238L |
probably damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mcmbp |
T |
C |
7: 128,317,729 (GRCm39) |
E172G |
possibly damaging |
Het |
Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
Nek8 |
C |
A |
11: 78,061,309 (GRCm39) |
V379L |
probably benign |
Het |
Numa1 |
T |
G |
7: 101,658,945 (GRCm39) |
L356R |
probably damaging |
Het |
Pard6b |
C |
T |
2: 167,940,943 (GRCm39) |
A310V |
probably benign |
Het |
Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
Phtf1 |
G |
A |
3: 103,910,919 (GRCm39) |
|
probably null |
Het |
Plch1 |
C |
A |
3: 63,618,640 (GRCm39) |
D675Y |
probably damaging |
Het |
Plk2 |
A |
G |
13: 110,532,871 (GRCm39) |
H144R |
probably damaging |
Het |
Rax |
T |
A |
18: 66,068,152 (GRCm39) |
N318Y |
unknown |
Het |
Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
Smarcd2 |
T |
A |
11: 106,157,731 (GRCm39) |
K138* |
probably null |
Het |
Taar7e |
A |
T |
10: 23,913,932 (GRCm39) |
I141F |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,925,921 (GRCm39) |
W172R |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,415,856 (GRCm39) |
I226V |
probably benign |
Het |
Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
Tfpt |
A |
G |
7: 3,623,386 (GRCm39) |
Y240H |
probably damaging |
Het |
Top3b |
A |
G |
16: 16,700,396 (GRCm39) |
|
probably null |
Het |
Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
Zfand2b |
A |
T |
1: 75,146,454 (GRCm39) |
M110L |
probably benign |
Het |
Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACAAACATTGAGGAGATGC -3'
(R):5'- CCTGCAGAATTGTGAGCCAG -3'
Sequencing Primer
(F):5'- CCACAAACATTGAGGAGATGCTAAAG -3'
(R):5'- TTGAGGTCTGCCATAAGAAAACATG -3'
|
Posted On |
2015-06-10 |