Incidental Mutation 'R2846:Tgfbr3l'
| ID |
251601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgfbr3l
|
| Ensembl Gene |
ENSMUSG00000089736 |
| Gene Name |
transforming growth factor, beta receptor III-like |
| Synonyms |
Gm14378, LOC100039590 |
| MMRRC Submission |
040439-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2846 (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]
[ENSMUST00000110996]
[ENSMUST00000145165]
[ENSMUST00000208459]
[ENSMUST00000129866]
[ENSMUST00000208316]
[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: 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 |
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: ENSMUST00000142865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209051
|
| 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 |
|
| Meta Mutation Damage Score |
0.0907 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,514,165 (GRCm39) |
M1K |
probably null |
Het |
| Ddx4 |
T |
A |
13: 112,741,146 (GRCm39) |
K496M |
probably damaging |
Het |
| Dlg1 |
T |
C |
16: 31,682,015 (GRCm39) |
S779P |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,784,560 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Gal3st2c |
A |
T |
1: 93,924,122 (GRCm39) |
Q8L |
possibly damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Irs4 |
C |
A |
X: 140,507,336 (GRCm39) |
G287W |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,818,667 (GRCm39) |
I1570V |
probably benign |
Het |
| Kremen1 |
GG |
GGGCG |
11: 5,151,793 (GRCm39) |
|
probably benign |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,085 (GRCm39) |
V521A |
probably damaging |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,197,088 (GRCm39) |
P175S |
probably benign |
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 |
| Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
| Prr12 |
G |
C |
7: 44,695,436 (GRCm39) |
S1343R |
unknown |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Qpct |
A |
G |
17: 79,378,171 (GRCm39) |
T114A |
probably damaging |
Het |
| Sec24d |
A |
G |
3: 123,144,395 (GRCm39) |
D624G |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,623,792 (GRCm39) |
Y259C |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Smarcb1 |
C |
A |
10: 75,733,375 (GRCm39) |
R332L |
probably damaging |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,915,811 (GRCm39) |
C819S |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,230 (GRCm39) |
N180D |
possibly damaging |
Het |
| Tmem204 |
G |
A |
17: 25,299,307 (GRCm39) |
H71Y |
probably benign |
Het |
| Vmn1r212 |
A |
G |
13: 23,068,262 (GRCm39) |
S24P |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,646,099 (GRCm39) |
S259G |
probably benign |
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 |
|
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'- GAAAGAATTTGGCATGCGGC -3'
(R):5'- TGTTACTGAGCATCGGTGAAGG -3'
Sequencing Primer
(F):5'- AATTTGGCATGCGGCTGAGC -3'
(R):5'- TAGGCCCCATCTCGGTGAAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation