Incidental Mutation 'R4779:Tnnt3'
| ID |
368156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnnt3
|
| Ensembl Gene |
ENSMUSG00000061723 |
| Gene Name |
troponin T3, skeletal, fast |
| Synonyms |
skeletal muscle fast-twitch TnT, fTnT |
| MMRRC Submission |
045240-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4779 (G1)
|
| Quality Score |
206 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
142052573-142069746 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 142068020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074187]
[ENSMUST00000078497]
[ENSMUST00000105941]
[ENSMUST00000105942]
[ENSMUST00000105943]
[ENSMUST00000105944]
[ENSMUST00000105945]
[ENSMUST00000105958]
[ENSMUST00000105952]
[ENSMUST00000105953]
[ENSMUST00000105954]
[ENSMUST00000105955]
[ENSMUST00000105948]
[ENSMUST00000105946]
[ENSMUST00000128294]
[ENSMUST00000105957]
[ENSMUST00000105947]
[ENSMUST00000105949]
[ENSMUST00000105950]
[ENSMUST00000169299]
[ENSMUST00000146804]
[ENSMUST00000179658]
[ENSMUST00000180152]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074187
|
| SMART Domains |
Protein: ENSMUSP00000073815
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
52 |
194 |
1.5e-42 |
PFAM |
|
low complexity region
|
233 |
245 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078497
|
| SMART Domains |
Protein: ENSMUSP00000077587
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
48 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
72 |
214 |
2.1e-42 |
PFAM |
|
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105941
|
| SMART Domains |
Protein: ENSMUSP00000101561
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
52 |
194 |
2.1e-42 |
PFAM |
|
low complexity region
|
229 |
245 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105942
|
| SMART Domains |
Protein: ENSMUSP00000101562
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
43 |
185 |
1.7e-42 |
PFAM |
|
low complexity region
|
224 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105943
|
| SMART Domains |
Protein: ENSMUSP00000101563
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
43 |
185 |
1.9e-42 |
PFAM |
|
low complexity region
|
220 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105944
|
| SMART Domains |
Protein: ENSMUSP00000101564
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
54 |
196 |
2e-42 |
PFAM |
|
low complexity region
|
235 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105945
|
| SMART Domains |
Protein: ENSMUSP00000101565
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
52 |
194 |
1.5e-42 |
PFAM |
|
low complexity region
|
233 |
245 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105958
|
| SMART Domains |
Protein: ENSMUSP00000101578
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
76 |
218 |
2.1e-42 |
PFAM |
|
low complexity region
|
253 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105952
|
| SMART Domains |
Protein: ENSMUSP00000101572
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
63 |
205 |
1.8e-42 |
PFAM |
|
low complexity region
|
244 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105953
|
| SMART Domains |
Protein: ENSMUSP00000101573
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
42 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
66 |
208 |
1.9e-42 |
PFAM |
|
low complexity region
|
247 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105954
|
| SMART Domains |
Protein: ENSMUSP00000101574
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
44 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
67 |
209 |
1.9e-42 |
PFAM |
|
low complexity region
|
248 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105955
|
| SMART Domains |
Protein: ENSMUSP00000101575
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
36 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
59 |
201 |
2.2e-42 |
PFAM |
|
low complexity region
|
240 |
252 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105948
|
| SMART Domains |
Protein: ENSMUSP00000101568
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
54 |
196 |
2.2e-42 |
PFAM |
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105946
|
| SMART Domains |
Protein: ENSMUSP00000101566
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
58 |
200 |
1.8e-42 |
PFAM |
|
low complexity region
|
235 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128294
|
| SMART Domains |
Protein: ENSMUSP00000116223
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
49 |
107 |
3.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105957
|
| SMART Domains |
Protein: ENSMUSP00000101577
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
36 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
63 |
205 |
1.8e-42 |
PFAM |
|
low complexity region
|
244 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105947
|
| SMART Domains |
Protein: ENSMUSP00000101567
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
63 |
205 |
1.9e-42 |
PFAM |
|
low complexity region
|
240 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105949
|
| SMART Domains |
Protein: ENSMUSP00000101569
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
48 |
190 |
1.8e-42 |
PFAM |
|
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105950
|
| SMART Domains |
Protein: ENSMUSP00000101570
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
42 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
66 |
208 |
1.9e-42 |
PFAM |
|
internal_repeat_1
|
213 |
240 |
4.67e-5 |
PROSPERO |
|
low complexity region
|
247 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169299
|
| SMART Domains |
Protein: ENSMUSP00000127854
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
58 |
200 |
1.8e-42 |
PFAM |
|
low complexity region
|
235 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146804
|
| SMART Domains |
Protein: ENSMUSP00000116087
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
49 |
191 |
1.4e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179658
|
| SMART Domains |
Protein: ENSMUSP00000136278
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
76 |
212 |
1.5e-36 |
PFAM |
|
low complexity region
|
257 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180152
|
| SMART Domains |
Protein: ENSMUSP00000137111
Gene: ENSMUSG00000061723
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Troponin
|
76 |
218 |
5.1e-42 |
PFAM |
|
internal_repeat_1
|
223 |
250 |
2.76e-5 |
PROSPERO |
|
low complexity region
|
257 |
269 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
98% (95/97) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, liver and kidney hemorrhage and thin diaphragm. Mice heterozygous for this allele exhibit growth retardation with mild skeleton defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
A |
16: 4,667,613 (GRCm39) |
S335T |
unknown |
Het |
| 4933421I07Rik |
T |
A |
7: 42,097,455 (GRCm39) |
H13L |
possibly damaging |
Het |
| 6030468B19Rik |
A |
G |
11: 117,696,834 (GRCm39) |
T185A |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,228,635 (GRCm39) |
V294E |
probably benign |
Het |
| Abhd16b |
A |
G |
2: 181,135,253 (GRCm39) |
T52A |
possibly damaging |
Het |
| Actl7a |
A |
T |
4: 56,743,632 (GRCm39) |
N53I |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,814,445 (GRCm39) |
E354G |
probably benign |
Het |
| Arap1 |
T |
C |
7: 101,053,574 (GRCm39) |
F1301S |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,223,958 (GRCm39) |
W1447R |
probably damaging |
Het |
| Atoh7 |
ATGGCGCT |
AT |
10: 62,936,187 (GRCm39) |
|
probably benign |
Het |
| Ccl24 |
T |
A |
5: 135,601,811 (GRCm39) |
T6S |
possibly damaging |
Het |
| Cep152 |
G |
T |
2: 125,410,812 (GRCm39) |
P1292Q |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,239,731 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,791,477 (GRCm39) |
S2627T |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,468,963 (GRCm39) |
S552T |
probably damaging |
Het |
| Ciita |
C |
A |
16: 10,329,230 (GRCm39) |
L502M |
probably damaging |
Het |
| Clic1 |
T |
C |
17: 35,271,463 (GRCm39) |
F31S |
probably damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,068,898 (GRCm39) |
I147N |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,248,322 (GRCm39) |
S1624P |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,819,831 (GRCm39) |
D276E |
probably benign |
Het |
| Cspg4 |
A |
T |
9: 56,793,092 (GRCm39) |
N276Y |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,504,870 (GRCm39) |
N2000Y |
possibly damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,410,035 (GRCm39) |
M55V |
possibly damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,553,969 (GRCm39) |
I301T |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,034,580 (GRCm39) |
V1443A |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,363,964 (GRCm39) |
V612A |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,794,362 (GRCm39) |
C1189S |
probably damaging |
Het |
| Fgfr2 |
T |
G |
7: 129,786,923 (GRCm39) |
|
probably benign |
Het |
| Fmn2 |
A |
G |
1: 174,437,461 (GRCm39) |
E1144G |
probably damaging |
Het |
| Fmo3 |
T |
C |
1: 162,796,407 (GRCm39) |
Y55C |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,229,865 (GRCm39) |
T11A |
probably damaging |
Het |
| Ghdc |
G |
T |
11: 100,660,929 (GRCm39) |
Q79K |
possibly damaging |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5591 |
T |
C |
7: 38,221,680 (GRCm39) |
T130A |
probably damaging |
Het |
| Heg1 |
T |
G |
16: 33,540,142 (GRCm39) |
D367E |
probably benign |
Het |
| Igkv13-84 |
C |
T |
6: 68,916,894 (GRCm39) |
P64S |
probably damaging |
Het |
| Il10rb |
T |
A |
16: 91,211,545 (GRCm39) |
S128T |
possibly damaging |
Het |
| Il15ra |
T |
A |
2: 11,723,117 (GRCm39) |
I47N |
probably damaging |
Het |
| Il33 |
C |
A |
19: 29,936,311 (GRCm39) |
S207* |
probably null |
Het |
| Itgb7 |
A |
G |
15: 102,132,848 (GRCm39) |
Y155H |
possibly damaging |
Het |
| Kdm5a |
A |
G |
6: 120,346,060 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
G |
A |
19: 37,406,397 (GRCm39) |
V987I |
probably benign |
Het |
| Krtap19-2 |
G |
A |
16: 88,670,762 (GRCm39) |
|
probably benign |
Het |
| Krtap24-1 |
T |
A |
16: 88,408,417 (GRCm39) |
R236S |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,566,813 (GRCm39) |
I406V |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,290,059 (GRCm39) |
H3593Q |
possibly damaging |
Het |
| Mavs |
G |
T |
2: 131,082,285 (GRCm39) |
W56C |
probably damaging |
Het |
| Mn1 |
C |
T |
5: 111,567,526 (GRCm39) |
P499S |
probably damaging |
Het |
| Ntn5 |
T |
A |
7: 45,340,895 (GRCm39) |
C178S |
probably damaging |
Het |
| Nufip2 |
A |
G |
11: 77,577,154 (GRCm39) |
H34R |
unknown |
Het |
| Or5p51 |
T |
A |
7: 107,444,755 (GRCm39) |
M62L |
possibly damaging |
Het |
| Or6f2 |
T |
A |
7: 139,756,363 (GRCm39) |
L110Q |
probably damaging |
Het |
| Osbpl10 |
C |
T |
9: 114,938,598 (GRCm39) |
S86L |
probably damaging |
Het |
| Pitpna |
T |
A |
11: 75,511,153 (GRCm39) |
M242K |
possibly damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,572,838 (GRCm39) |
V345A |
probably benign |
Het |
| Polk |
A |
G |
13: 96,632,999 (GRCm39) |
|
probably null |
Het |
| Polr3k |
A |
G |
2: 181,506,340 (GRCm39) |
Y30C |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,339,941 (GRCm39) |
H235R |
probably benign |
Het |
| Ptpra |
G |
A |
2: 130,379,537 (GRCm39) |
V364I |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,309,426 (GRCm39) |
|
probably benign |
Het |
| Ring1 |
T |
C |
17: 34,241,263 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Samsn1 |
C |
A |
16: 75,744,177 (GRCm39) |
|
noncoding transcript |
Het |
| Scara5 |
A |
G |
14: 65,968,198 (GRCm39) |
H157R |
probably benign |
Het |
| Sdc3 |
C |
T |
4: 130,546,376 (GRCm39) |
P245L |
probably damaging |
Het |
| Slc18b1 |
T |
A |
10: 23,696,767 (GRCm39) |
M318K |
possibly damaging |
Het |
| Slc26a10 |
C |
T |
10: 127,009,224 (GRCm39) |
A638T |
possibly damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,717,013 (GRCm39) |
W259R |
possibly damaging |
Het |
| Spata13 |
G |
A |
14: 60,991,356 (GRCm39) |
W366* |
probably null |
Het |
| Sptlc3 |
A |
G |
2: 139,431,509 (GRCm39) |
T344A |
probably benign |
Het |
| Tap1 |
T |
C |
17: 34,412,865 (GRCm39) |
V560A |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,435,389 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
A |
G |
14: 50,598,707 (GRCm39) |
Y231C |
possibly damaging |
Het |
| Tmem245 |
A |
T |
4: 56,936,468 (GRCm39) |
S230T |
possibly damaging |
Het |
| Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
| Tshz2 |
A |
G |
2: 169,804,601 (GRCm39) |
|
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,468,397 (GRCm39) |
S129P |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,776,237 (GRCm39) |
N1727I |
probably damaging |
Het |
| Ttc7b |
A |
G |
12: 100,369,621 (GRCm39) |
S383P |
probably damaging |
Het |
| Tulp3 |
T |
A |
6: 128,300,083 (GRCm39) |
I448F |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,542,778 (GRCm39) |
|
probably null |
Het |
| Vav1 |
G |
A |
17: 57,603,552 (GRCm39) |
V84I |
probably damaging |
Het |
| Vav3 |
A |
T |
3: 109,416,110 (GRCm39) |
K243I |
possibly damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,956,011 (GRCm39) |
I93F |
probably damaging |
Het |
| Vmn2r73 |
C |
T |
7: 85,520,923 (GRCm39) |
W348* |
probably null |
Het |
| Zdbf2 |
A |
G |
1: 63,342,397 (GRCm39) |
R259G |
possibly damaging |
Het |
|
| Other mutations in Tnnt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02247:Tnnt3
|
APN |
7 |
142,062,062 (GRCm39) |
intron |
probably benign |
|
|
IGL02376:Tnnt3
|
APN |
7 |
142,066,295 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0432:Tnnt3
|
UTSW |
7 |
142,065,823 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0463:Tnnt3
|
UTSW |
7 |
142,066,072 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1421:Tnnt3
|
UTSW |
7 |
142,065,103 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1521:Tnnt3
|
UTSW |
7 |
142,069,562 (GRCm39) |
nonsense |
probably null |
|
|
R1789:Tnnt3
|
UTSW |
7 |
142,066,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Tnnt3
|
UTSW |
7 |
142,065,262 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1991:Tnnt3
|
UTSW |
7 |
142,065,262 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2029:Tnnt3
|
UTSW |
7 |
142,066,364 (GRCm39) |
splice site |
probably benign |
|
|
R2216:Tnnt3
|
UTSW |
7 |
142,066,301 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5568:Tnnt3
|
UTSW |
7 |
142,065,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5756:Tnnt3
|
UTSW |
7 |
142,056,495 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5994:Tnnt3
|
UTSW |
7 |
142,065,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Tnnt3
|
UTSW |
7 |
142,055,382 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7658:Tnnt3
|
UTSW |
7 |
142,065,833 (GRCm39) |
nonsense |
probably null |
|
|
R8280:Tnnt3
|
UTSW |
7 |
142,055,359 (GRCm39) |
missense |
unknown |
|
|
R9074:Tnnt3
|
UTSW |
7 |
142,065,823 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCGTAGCCACAAGGTAAG -3'
(R):5'- ACATGCCTAGGTCCTACGTAG -3'
Sequencing Primer
(F):5'- CACAAGGTAAGTGGACAGCTG -3'
(R):5'- CTAGGTCCTACGTAGGGTTGCAG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation