Incidental Mutation 'IGL02672:Smad3'
ID |
302983 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Smad3
|
Ensembl Gene |
ENSMUSG00000032402 |
Gene Name |
SMAD family member 3 |
Synonyms |
Madh3, Smad 3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02672
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
63554049-63665276 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 63575009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034973]
[ENSMUST00000034973]
[ENSMUST00000137713]
[ENSMUST00000154323]
[ENSMUST00000154323]
|
AlphaFold |
Q8BUN5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034973
|
SMART Domains |
Protein: ENSMUSP00000034973 Gene: ENSMUSG00000032402
Domain | Start | End | E-Value | Type |
DWA
|
26 |
134 |
5.63e-68 |
SMART |
Blast:DWB
|
189 |
219 |
8e-12 |
BLAST |
DWB
|
230 |
401 |
6.93e-109 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000034973
|
SMART Domains |
Protein: ENSMUSP00000034973 Gene: ENSMUSG00000032402
Domain | Start | End | E-Value | Type |
DWA
|
26 |
134 |
5.63e-68 |
SMART |
Blast:DWB
|
189 |
219 |
8e-12 |
BLAST |
DWB
|
230 |
401 |
6.93e-109 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000133108
|
SMART Domains |
Protein: ENSMUSP00000122217 Gene: ENSMUSG00000032402
Domain | Start | End | E-Value | Type |
DWA
|
3 |
75 |
2.19e-24 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000133108
|
SMART Domains |
Protein: ENSMUSP00000122217 Gene: ENSMUSG00000032402
Domain | Start | End | E-Value | Type |
DWA
|
3 |
75 |
2.19e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137065
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137713
|
SMART Domains |
Protein: ENSMUSP00000121671 Gene: ENSMUSG00000032402
Domain | Start | End | E-Value | Type |
DWB
|
35 |
113 |
3.07e-6 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000154323
|
SMART Domains |
Protein: ENSMUSP00000116790 Gene: ENSMUSG00000032402
Domain | Start | End | E-Value | Type |
DWA
|
1 |
69 |
5.6e-22 |
SMART |
Pfam:MH2
|
161 |
233 |
3.9e-31 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000154323
|
SMART Domains |
Protein: ENSMUSP00000116790 Gene: ENSMUSG00000032402
Domain | Start | End | E-Value | Type |
DWA
|
1 |
69 |
5.6e-22 |
SMART |
Pfam:MH2
|
161 |
233 |
3.9e-31 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq, Apr 2009] PHENOTYPE: Homozygotes for targeted mutations exhibit reduced mucosal immunity, chronic intestinal inflammation (sometimes with colonic adenocarcinoma), forelimb malformation, reduced mineralization of enamel, impaired growth of ovarian follicles, and develop osteoarthritis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
Alpi |
A |
G |
1: 87,028,994 (GRCm39) |
L60P |
probably damaging |
Het |
Arpc1a |
A |
C |
5: 145,041,697 (GRCm39) |
I327L |
probably damaging |
Het |
Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
Dcaf7 |
T |
C |
11: 105,945,684 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
T |
G |
11: 65,818,427 (GRCm39) |
I3304L |
probably benign |
Het |
Dpp10 |
T |
A |
1: 123,304,376 (GRCm39) |
H508L |
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,767,034 (GRCm39) |
D86G |
probably benign |
Het |
Enpp7 |
T |
C |
11: 118,883,166 (GRCm39) |
|
probably null |
Het |
Fbxw9 |
C |
A |
8: 85,792,682 (GRCm39) |
|
probably null |
Het |
Foxred2 |
A |
G |
15: 77,829,777 (GRCm39) |
|
probably null |
Het |
Gas2l2 |
C |
T |
11: 83,315,957 (GRCm39) |
R254H |
probably damaging |
Het |
Gatad2b |
C |
T |
3: 90,249,198 (GRCm39) |
L79F |
possibly damaging |
Het |
Igf1r |
A |
T |
7: 67,839,781 (GRCm39) |
D696V |
probably benign |
Het |
Kcnk5 |
A |
G |
14: 20,196,580 (GRCm39) |
I96T |
probably damaging |
Het |
Lrrc8c |
C |
T |
5: 105,755,224 (GRCm39) |
T333M |
possibly damaging |
Het |
Mcm10 |
T |
C |
2: 5,006,092 (GRCm39) |
T417A |
probably benign |
Het |
Mesp2 |
T |
C |
7: 79,461,145 (GRCm39) |
S157P |
probably benign |
Het |
Naca |
A |
G |
10: 127,876,152 (GRCm39) |
|
probably benign |
Het |
Or5t17 |
A |
T |
2: 86,832,417 (GRCm39) |
M35L |
probably benign |
Het |
Osgepl1 |
A |
G |
1: 53,359,270 (GRCm39) |
T260A |
probably benign |
Het |
Otop1 |
T |
C |
5: 38,435,170 (GRCm39) |
|
probably null |
Het |
Pdk1 |
T |
C |
2: 71,726,096 (GRCm39) |
S335P |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,668,987 (GRCm39) |
N338S |
probably benign |
Het |
Pogz |
G |
A |
3: 94,763,410 (GRCm39) |
V61I |
probably benign |
Het |
Ppp4r1 |
A |
G |
17: 66,147,942 (GRCm39) |
Y928C |
probably damaging |
Het |
Rab17 |
T |
C |
1: 90,886,940 (GRCm39) |
E160G |
probably damaging |
Het |
Rasgrp3 |
T |
A |
17: 75,803,412 (GRCm39) |
F70Y |
probably benign |
Het |
Rere |
T |
A |
4: 150,594,483 (GRCm39) |
N364K |
unknown |
Het |
Ryr1 |
A |
T |
7: 28,703,944 (GRCm39) |
|
probably benign |
Het |
Sae1 |
A |
G |
7: 16,104,273 (GRCm39) |
V112A |
probably damaging |
Het |
Serpinb6d |
C |
T |
13: 33,855,372 (GRCm39) |
H349Y |
probably benign |
Het |
Slc12a1 |
T |
C |
2: 125,012,596 (GRCm39) |
V286A |
probably damaging |
Het |
Sox8 |
T |
A |
17: 25,787,963 (GRCm39) |
D162V |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,087,239 (GRCm39) |
F1067L |
probably damaging |
Het |
Tmprss3 |
T |
C |
17: 31,409,981 (GRCm39) |
Y211C |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,409,166 (GRCm38) |
|
probably benign |
Het |
Tpp1 |
A |
T |
7: 105,396,168 (GRCm39) |
H510Q |
probably benign |
Het |
Ugcg |
T |
A |
4: 59,218,587 (GRCm39) |
|
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,818,376 (GRCm39) |
I651N |
probably benign |
Het |
Wdr25 |
A |
T |
12: 108,864,007 (GRCm39) |
K51* |
probably null |
Het |
|
Other mutations in Smad3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01542:Smad3
|
APN |
9 |
63,562,868 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01946:Smad3
|
APN |
9 |
63,664,835 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02686:Smad3
|
APN |
9 |
63,575,064 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03205:Smad3
|
APN |
9 |
63,575,148 (GRCm39) |
missense |
probably benign |
0.12 |
noseeem
|
UTSW |
9 |
63,561,999 (GRCm39) |
nonsense |
probably null |
|
R4555:Smad3
|
UTSW |
9 |
63,562,070 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4736:Smad3
|
UTSW |
9 |
63,664,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R6387:Smad3
|
UTSW |
9 |
63,562,047 (GRCm39) |
missense |
probably benign |
0.00 |
R7167:Smad3
|
UTSW |
9 |
63,573,435 (GRCm39) |
missense |
probably benign |
0.00 |
R7591:Smad3
|
UTSW |
9 |
63,561,999 (GRCm39) |
nonsense |
probably null |
|
R7961:Smad3
|
UTSW |
9 |
63,557,564 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8303:Smad3
|
UTSW |
9 |
63,574,760 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |