Incidental Mutation 'R9539:Tgfbr3l'
| ID |
719806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgfbr3l
|
| Ensembl Gene |
ENSMUSG00000089736 |
| Gene Name |
transforming growth factor, beta receptor III-like |
| Synonyms |
Gm14378, LOC100039590 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4298214-4301423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4299679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 154
(R154H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003027]
[ENSMUST00000011981]
[ENSMUST00000062686]
[ENSMUST00000110993]
[ENSMUST00000110994]
[ENSMUST00000110995]
[ENSMUST00000110996]
[ENSMUST00000110998]
[ENSMUST00000110999]
[ENSMUST00000129866]
[ENSMUST00000145165]
[ENSMUST00000208316]
[ENSMUST00000208459]
|
| 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: R154H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106621
Gene: ENSMUSG00000089736
AA Change: R154H
| 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 |
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: ENSMUST00000129866
|
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000208316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208459
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah1 |
G |
A |
8: 41,827,584 (GRCm39) |
A13V |
probably benign |
Het |
| Bdh1 |
A |
G |
16: 31,273,914 (GRCm39) |
T160A |
probably benign |
Het |
| Ccdc115 |
C |
T |
1: 34,477,930 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
A |
10: 41,463,407 (GRCm39) |
E1445V |
possibly damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,901,993 (GRCm39) |
E1215G |
possibly damaging |
Het |
| Cep290 |
A |
T |
10: 100,404,713 (GRCm39) |
E2358D |
probably damaging |
Het |
| Cog6 |
A |
G |
3: 52,914,722 (GRCm39) |
S245P |
probably benign |
Het |
| Copb2 |
A |
T |
9: 98,467,983 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
T |
A |
8: 70,892,115 (GRCm39) |
M32L |
probably benign |
Het |
| Dagla |
A |
C |
19: 10,228,429 (GRCm39) |
|
probably null |
Het |
| Dph5 |
C |
A |
3: 115,722,305 (GRCm39) |
P261Q |
probably damaging |
Het |
| Gpr137c |
T |
C |
14: 45,516,187 (GRCm39) |
V307A |
probably damaging |
Het |
| Herpud2 |
A |
G |
9: 25,041,936 (GRCm39) |
Y79H |
probably damaging |
Het |
| Ighg2b |
C |
T |
12: 113,270,498 (GRCm39) |
V211I |
|
Het |
| Meioc |
C |
T |
11: 102,565,506 (GRCm39) |
T318M |
probably damaging |
Het |
| Mterf4 |
T |
C |
1: 93,229,188 (GRCm39) |
Y275C |
unknown |
Het |
| Mtfr1 |
T |
C |
3: 19,271,422 (GRCm39) |
V198A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,415,322 (GRCm39) |
I138F |
probably damaging |
Het |
| Pacc1 |
C |
T |
1: 191,077,174 (GRCm39) |
Q166* |
probably null |
Het |
| Pf4 |
T |
A |
5: 90,920,891 (GRCm39) |
V73D |
possibly damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,482 (GRCm39) |
E321G |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,691,427 (GRCm39) |
S59G |
probably null |
Het |
| Pmfbp1 |
A |
G |
8: 110,240,537 (GRCm39) |
I206M |
probably damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,174,658 (GRCm39) |
V50A |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,725,715 (GRCm39) |
H1496R |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,134,298 (GRCm39) |
I73F |
probably damaging |
Het |
| Serpind1 |
G |
A |
16: 17,157,638 (GRCm39) |
W278* |
probably null |
Het |
| Slit3 |
C |
T |
11: 35,589,155 (GRCm39) |
Q1237* |
probably null |
Het |
| Smg1 |
T |
C |
7: 117,744,976 (GRCm39) |
I3059V |
probably benign |
Het |
| Spart |
T |
A |
3: 55,034,924 (GRCm39) |
W437R |
probably damaging |
Het |
| Spata6 |
C |
G |
4: 111,685,526 (GRCm39) |
A477G |
possibly damaging |
Het |
| Suox |
A |
G |
10: 128,507,383 (GRCm39) |
F215S |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,655,683 (GRCm39) |
N431S |
probably benign |
Het |
| Tll1 |
T |
C |
8: 64,494,457 (GRCm39) |
K766R |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,984,105 (GRCm39) |
K255* |
probably null |
Het |
| Tmem67 |
A |
T |
4: 12,045,814 (GRCm39) |
L881H |
probably damaging |
Het |
| Tmem67 |
G |
T |
4: 12,045,815 (GRCm39) |
L881I |
probably damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,760,544 (GRCm39) |
S84G |
probably damaging |
Het |
| Traf7 |
C |
T |
17: 24,729,333 (GRCm39) |
V465M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,618,568 (GRCm39) |
V16239I |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,609,163 (GRCm39) |
|
probably null |
Het |
| Zc3h11a |
T |
C |
1: 133,554,927 (GRCm39) |
E351G |
probably benign |
Het |
| Zfp942 |
T |
A |
17: 22,148,014 (GRCm39) |
H205L |
probably damaging |
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 |
|
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 |
|
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'- GCTCAGTAACACCTTCTTCACG -3'
(R):5'- GTACCCATTGTGAGAGGGAC -3'
Sequencing Primer
(F):5'- TAACACCTTCTTCACGCCCGAC -3'
(R):5'- CCATTGTGAGAGGGACCCAGAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation