Incidental Mutation 'R6898:Tgfbr3l'
ID |
538456 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgfbr3l
|
Ensembl Gene |
ENSMUSG00000089736 |
Gene Name |
transforming growth factor, beta receptor III-like |
Synonyms |
Gm14378, LOC100039590 |
MMRRC Submission |
044992-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6898 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
4298214-4301423 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4300365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 209
(I209M)
|
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 |
possibly damaging
Transcript: ENSMUST00000110993
AA Change: I209M
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106621 Gene: ENSMUSG00000089736 AA Change: I209M
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: ENSMUST00000208110
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208316
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208459
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd7 |
G |
T |
6: 18,868,100 (GRCm39) |
|
probably null |
Het |
Aoc1l2 |
A |
T |
6: 48,907,975 (GRCm39) |
Y325F |
probably damaging |
Het |
Aplnr |
A |
T |
2: 84,970,155 (GRCm39) |
|
probably benign |
Het |
Capns2 |
T |
C |
8: 93,628,605 (GRCm39) |
S165P |
probably damaging |
Het |
Col25a1 |
T |
C |
3: 130,378,377 (GRCm39) |
|
probably null |
Het |
Crocc2 |
T |
C |
1: 93,143,304 (GRCm39) |
V1302A |
probably benign |
Het |
Cul9 |
C |
A |
17: 46,821,952 (GRCm39) |
R1841M |
possibly damaging |
Het |
Dnhd1 |
T |
C |
7: 105,336,584 (GRCm39) |
L1213P |
probably damaging |
Het |
Dscam |
A |
T |
16: 96,631,100 (GRCm39) |
I305K |
probably benign |
Het |
Dsp |
A |
G |
13: 38,376,193 (GRCm39) |
E1326G |
possibly damaging |
Het |
Eif4a3l1 |
T |
A |
6: 136,305,617 (GRCm39) |
V26E |
probably benign |
Het |
Emc9 |
A |
G |
14: 55,822,367 (GRCm39) |
|
probably null |
Het |
Eppk1 |
A |
C |
15: 75,996,126 (GRCm39) |
S252A |
probably benign |
Het |
Fn1 |
T |
A |
1: 71,639,572 (GRCm39) |
T1830S |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,179,485 (GRCm39) |
M2974K |
probably damaging |
Het |
Gdpd3 |
C |
A |
7: 126,370,201 (GRCm39) |
S250* |
probably null |
Het |
Gnl3 |
A |
T |
14: 30,735,136 (GRCm39) |
S485R |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Hsd17b3 |
T |
C |
13: 64,207,339 (GRCm39) |
Y234C |
probably benign |
Het |
Lima1 |
T |
C |
15: 99,679,148 (GRCm39) |
H271R |
possibly damaging |
Het |
Nfu1 |
G |
A |
6: 86,994,034 (GRCm39) |
|
probably null |
Het |
Noto |
A |
G |
6: 85,404,942 (GRCm39) |
E97G |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 109,779,534 (GRCm39) |
K348E |
probably damaging |
Het |
Or2y13 |
G |
A |
11: 49,414,536 (GRCm39) |
|
probably benign |
Het |
Or4a70 |
C |
T |
2: 89,324,594 (GRCm39) |
G21R |
possibly damaging |
Het |
Osmr |
C |
A |
15: 6,845,364 (GRCm39) |
V801F |
probably damaging |
Het |
Papln |
A |
G |
12: 83,824,234 (GRCm39) |
E554G |
probably benign |
Het |
Pitrm1 |
T |
C |
13: 6,605,495 (GRCm39) |
L175P |
probably damaging |
Het |
Pramel22 |
A |
T |
4: 143,382,053 (GRCm39) |
N214K |
probably damaging |
Het |
Pramel7 |
T |
C |
2: 87,320,070 (GRCm39) |
T408A |
probably damaging |
Het |
Serinc2 |
A |
T |
4: 130,149,235 (GRCm39) |
D322E |
probably benign |
Het |
Setx |
T |
C |
2: 29,038,120 (GRCm39) |
V1535A |
probably benign |
Het |
Sgce |
A |
T |
6: 4,689,666 (GRCm39) |
V389E |
probably damaging |
Het |
Snx11 |
G |
A |
11: 96,659,888 (GRCm39) |
T267I |
probably benign |
Het |
Spata6l |
T |
G |
19: 28,921,688 (GRCm39) |
Q146P |
probably benign |
Het |
Specc1 |
G |
A |
11: 62,009,162 (GRCm39) |
S306N |
probably benign |
Het |
Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
St7 |
T |
A |
6: 17,854,945 (GRCm39) |
V294D |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,880,920 (GRCm39) |
R624Q |
probably benign |
Het |
Tcf21 |
T |
C |
10: 22,695,403 (GRCm39) |
I134V |
probably benign |
Het |
Tgfb2 |
T |
A |
1: 186,364,697 (GRCm39) |
I266F |
probably damaging |
Het |
Tmcc3 |
A |
G |
10: 94,387,034 (GRCm39) |
|
probably null |
Het |
Toe1 |
A |
G |
4: 116,664,671 (GRCm39) |
S16P |
probably damaging |
Het |
Vps16 |
T |
C |
2: 130,279,601 (GRCm39) |
V38A |
possibly damaging |
Het |
Wnk2 |
G |
T |
13: 49,224,557 (GRCm39) |
D1001E |
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 |
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'- TAAGCCCATCATAGGAGCCC -3'
(R):5'- AAGTCAGTACCTGAGTGTGC -3'
Sequencing Primer
(F):5'- CATCATAGGAGCCCTGGGAGAC -3'
(R):5'- AGTACCTGAGTGTGCGCAGAC -3'
|
Posted On |
2018-11-06 |