Incidental Mutation 'R5749:Tgfbr3l'
ID |
445921 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgfbr3l
|
Ensembl Gene |
ENSMUSG00000089736 |
Gene Name |
transforming growth factor, beta receptor III-like |
Synonyms |
Gm14378, LOC100039590 |
MMRRC Submission |
043200-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5749 (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 4299310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 59
(E59G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106621
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003027]
[ENSMUST00000011981]
[ENSMUST00000062686]
[ENSMUST00000110993]
[ENSMUST00000110994]
[ENSMUST00000110995]
[ENSMUST00000110996]
[ENSMUST00000145165]
[ENSMUST00000208316]
[ENSMUST00000129866]
[ENSMUST00000208459]
[ENSMUST00000110998]
[ENSMUST00000110999]
|
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: E59G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106621 Gene: ENSMUSG00000089736 AA Change: E59G
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 |
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 |
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: ENSMUST00000207247
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208316
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124750
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129866
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208459
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142865
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209051
|
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
G |
A |
11: 54,214,881 (GRCm39) |
|
probably null |
Het |
Ankrd12 |
T |
C |
17: 66,293,091 (GRCm39) |
S781G |
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,782,799 (GRCm39) |
S523P |
probably benign |
Het |
Ccdc163 |
T |
A |
4: 116,571,309 (GRCm39) |
C44* |
probably null |
Het |
Ccdc83 |
T |
C |
7: 89,873,156 (GRCm39) |
T400A |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,216,965 (GRCm39) |
S426P |
possibly damaging |
Het |
Cyp2b19 |
T |
C |
7: 26,462,844 (GRCm39) |
I242T |
possibly damaging |
Het |
Efnb2 |
A |
C |
8: 8,689,347 (GRCm39) |
C92G |
probably damaging |
Het |
Fam90a1a |
T |
A |
8: 22,453,057 (GRCm39) |
S137R |
possibly damaging |
Het |
Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
Fem1b |
A |
G |
9: 62,704,288 (GRCm39) |
L324P |
probably damaging |
Het |
Fsd1 |
T |
A |
17: 56,302,849 (GRCm39) |
|
probably null |
Het |
Gtpbp4 |
A |
G |
13: 9,045,983 (GRCm39) |
|
probably null |
Het |
Ifi209 |
A |
C |
1: 173,464,893 (GRCm39) |
I8L |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,266,889 (GRCm39) |
E182G |
probably damaging |
Het |
Itsn1 |
T |
A |
16: 91,703,743 (GRCm39) |
L87H |
probably damaging |
Het |
Klk1b16 |
T |
C |
7: 43,790,210 (GRCm39) |
I160T |
probably benign |
Het |
Lbp |
T |
A |
2: 158,161,673 (GRCm39) |
V52D |
probably damaging |
Het |
Med23 |
T |
C |
10: 24,764,347 (GRCm39) |
V318A |
possibly damaging |
Het |
Myo16 |
C |
T |
8: 10,463,245 (GRCm39) |
S604L |
probably benign |
Het |
Or10ag52 |
C |
T |
2: 87,043,287 (GRCm39) |
T17I |
probably benign |
Het |
Or10g1 |
T |
A |
14: 52,647,961 (GRCm39) |
M123L |
probably damaging |
Het |
Or5b12 |
A |
G |
19: 12,897,589 (GRCm39) |
V28A |
probably benign |
Het |
Or6c38 |
A |
T |
10: 128,928,966 (GRCm39) |
N292K |
probably damaging |
Het |
Pcdh8 |
T |
C |
14: 80,007,525 (GRCm39) |
D346G |
probably damaging |
Het |
Ppara |
A |
T |
15: 85,673,229 (GRCm39) |
D140V |
probably benign |
Het |
Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
Prss36 |
T |
A |
7: 127,532,814 (GRCm39) |
I192F |
probably damaging |
Het |
Psg25 |
T |
C |
7: 18,258,776 (GRCm39) |
E300G |
probably damaging |
Het |
Pxylp1 |
A |
G |
9: 96,738,424 (GRCm39) |
F26L |
possibly damaging |
Het |
Rapgef4 |
A |
T |
2: 72,073,101 (GRCm39) |
T796S |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,534,267 (GRCm39) |
H3508R |
probably damaging |
Het |
Tep1 |
T |
A |
14: 51,081,529 (GRCm39) |
D1282V |
possibly damaging |
Het |
Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
Tns3 |
A |
T |
11: 8,401,177 (GRCm39) |
H1040Q |
probably benign |
Het |
Usp10 |
G |
A |
8: 120,667,872 (GRCm39) |
E58K |
probably damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,710,232 (GRCm39) |
T512A |
probably benign |
Het |
Vmn2r52 |
C |
T |
7: 9,892,959 (GRCm39) |
D727N |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,655,979 (GRCm39) |
K346* |
probably null |
Het |
Vmn2r93 |
T |
A |
17: 18,518,546 (GRCm39) |
F2I |
probably benign |
Het |
Zfp697 |
T |
C |
3: 98,332,780 (GRCm39) |
S69P |
probably benign |
Het |
Zftraf1 |
A |
C |
15: 76,542,844 (GRCm39) |
|
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 |
R2845: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 |
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'- TTGGAAAGAATTTGGCATGCGG -3'
(R):5'- TACTGAGCATCGGTGAAGGG -3'
Sequencing Primer
(F):5'- GGTAAAGAGACCACCTGTAATGCATC -3'
(R):5'- CATCGGTGAAGGGCTAGGC -3'
|
Posted On |
2016-11-21 |