Incidental Mutation 'R2845:Tgfbr3l'
ID |
251521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgfbr3l
|
Ensembl Gene |
ENSMUSG00000089736 |
Gene Name |
transforming growth factor, beta receptor III-like |
Synonyms |
Gm14378, LOC100039590 |
MMRRC Submission |
040438-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2845 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
4298214-4301423 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4299280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 49
(D49G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106621
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003027]
[ENSMUST00000011981]
[ENSMUST00000062686]
[ENSMUST00000110993]
[ENSMUST00000110994]
[ENSMUST00000110995]
[ENSMUST00000145165]
[ENSMUST00000208459]
[ENSMUST00000129866]
[ENSMUST00000208316]
[ENSMUST00000110998]
[ENSMUST00000110999]
[ENSMUST00000110996]
|
AlphaFold |
D3YZZ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003027
|
SMART Domains |
Protein: ENSMUSP00000003027 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
low complexity region
|
435 |
455 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000011981
|
SMART Domains |
Protein: ENSMUSP00000011981 Gene: ENSMUSG00000011837
Domain | Start | End | E-Value | Type |
Pfam:SnAPC_2_like
|
1 |
356 |
5.9e-144 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000062686
|
SMART Domains |
Protein: ENSMUSP00000054512 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110993
AA Change: D49G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106621 Gene: ENSMUSG00000089736 AA Change: D49G
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
12 |
N/A |
INTRINSIC |
Pfam:Zona_pellucida
|
16 |
161 |
6.6e-15 |
PFAM |
low complexity region
|
210 |
224 |
N/A |
INTRINSIC |
low complexity region
|
227 |
263 |
N/A |
INTRINSIC |
low complexity region
|
269 |
276 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110994
|
SMART Domains |
Protein: ENSMUSP00000106622 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
S_TKc
|
47 |
307 |
8.43e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110995
|
SMART Domains |
Protein: ENSMUSP00000106623 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
S_TKc
|
47 |
307 |
8.43e-72 |
SMART |
low complexity region
|
346 |
366 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000145165
|
SMART Domains |
Protein: ENSMUSP00000117418 Gene: ENSMUSG00000109061
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142865
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208029
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208459
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124750
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129866
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207247
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208316
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110998
|
SMART Domains |
Protein: ENSMUSP00000106626 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
low complexity region
|
53 |
73 |
N/A |
INTRINSIC |
S_TKc
|
120 |
380 |
8.43e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110999
|
SMART Domains |
Protein: ENSMUSP00000106627 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
low complexity region
|
53 |
73 |
N/A |
INTRINSIC |
S_TKc
|
120 |
380 |
8.43e-72 |
SMART |
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110996
|
SMART Domains |
Protein: ENSMUSP00000106624 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
45 |
N/A |
INTRINSIC |
S_TKc
|
92 |
352 |
8.43e-72 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209051
|
Meta Mutation Damage Score |
0.0907 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap25 |
C |
T |
6: 87,436,949 (GRCm39) |
E634K |
possibly damaging |
Het |
Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,429,894 (GRCm39) |
I676T |
probably damaging |
Het |
Cherp |
C |
A |
8: 73,220,247 (GRCm39) |
A449S |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
Cplane1 |
G |
A |
15: 8,245,864 (GRCm39) |
R1412H |
probably damaging |
Het |
Csnk1g2 |
A |
G |
10: 80,474,438 (GRCm39) |
S220G |
probably damaging |
Het |
Efcab7 |
T |
A |
4: 99,766,835 (GRCm39) |
V20D |
probably damaging |
Het |
Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,339,849 (GRCm39) |
F714S |
probably damaging |
Het |
Gpx6 |
A |
T |
13: 21,503,045 (GRCm39) |
|
probably null |
Het |
Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
Mrgpra2a |
T |
A |
7: 47,076,878 (GRCm39) |
M127L |
probably benign |
Het |
Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
Plekhh3 |
T |
C |
11: 101,061,056 (GRCm39) |
|
probably benign |
Het |
Pramel22 |
G |
A |
4: 143,380,868 (GRCm39) |
S385F |
probably damaging |
Het |
Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
Ptpru |
T |
A |
4: 131,546,972 (GRCm39) |
I168F |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
Skint10 |
T |
C |
4: 112,573,023 (GRCm39) |
S258G |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
Tas2r138 |
T |
C |
6: 40,589,701 (GRCm39) |
S182G |
probably benign |
Het |
Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
Zfp24 |
G |
T |
18: 24,150,885 (GRCm39) |
T87K |
probably damaging |
Het |
Zfp407 |
G |
T |
18: 84,576,522 (GRCm39) |
C1530* |
probably null |
Het |
|
Other mutations in Tgfbr3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0526:Tgfbr3l
|
UTSW |
8 |
4,299,439 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1757:Tgfbr3l
|
UTSW |
8 |
4,299,548 (GRCm39) |
missense |
probably benign |
0.43 |
R1764:Tgfbr3l
|
UTSW |
8 |
4,299,282 (GRCm39) |
missense |
probably benign |
0.02 |
R1899:Tgfbr3l
|
UTSW |
8 |
4,299,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R2266:Tgfbr3l
|
UTSW |
8 |
4,300,506 (GRCm39) |
missense |
probably benign |
0.01 |
R2267:Tgfbr3l
|
UTSW |
8 |
4,300,506 (GRCm39) |
missense |
probably benign |
0.01 |
R2268:Tgfbr3l
|
UTSW |
8 |
4,300,506 (GRCm39) |
missense |
probably benign |
0.01 |
R2844:Tgfbr3l
|
UTSW |
8 |
4,299,280 (GRCm39) |
missense |
probably damaging |
0.97 |
R2846:Tgfbr3l
|
UTSW |
8 |
4,299,280 (GRCm39) |
missense |
probably damaging |
0.97 |
R4695:Tgfbr3l
|
UTSW |
8 |
4,300,574 (GRCm39) |
missense |
probably benign |
0.33 |
R5059:Tgfbr3l
|
UTSW |
8 |
4,299,343 (GRCm39) |
critical splice donor site |
probably null |
|
R5708:Tgfbr3l
|
UTSW |
8 |
4,300,360 (GRCm39) |
missense |
probably damaging |
0.96 |
R5749:Tgfbr3l
|
UTSW |
8 |
4,299,310 (GRCm39) |
missense |
probably damaging |
0.97 |
R6898:Tgfbr3l
|
UTSW |
8 |
4,300,365 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7078:Tgfbr3l
|
UTSW |
8 |
4,299,238 (GRCm39) |
missense |
probably damaging |
0.98 |
R7745:Tgfbr3l
|
UTSW |
8 |
4,300,622 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9013:Tgfbr3l
|
UTSW |
8 |
4,300,620 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9368:Tgfbr3l
|
UTSW |
8 |
4,299,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R9539:Tgfbr3l
|
UTSW |
8 |
4,299,679 (GRCm39) |
missense |
probably damaging |
0.99 |
X0021:Tgfbr3l
|
UTSW |
8 |
4,299,642 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Tgfbr3l
|
UTSW |
8 |
4,300,508 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- GAATTTGGCATGCGGCTGAG -3'
(R):5'- AAGGTGTTACTGAGCATCGG -3'
Sequencing Primer
(F):5'- CTGAGCATGGGTAAAGAGACCACC -3'
(R):5'- TTACTGAGCATCGGTGAAGGGC -3'
|
Posted On |
2014-12-04 |