Incidental Mutation 'R0990:Smad1'
| ID |
97621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smad1
|
| Ensembl Gene |
ENSMUSG00000031681 |
| Gene Name |
SMAD family member 1 |
| Synonyms |
Madr1, Madh1, Smad 1 |
| MMRRC Submission |
039110-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0990 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
80065024-80126057 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80070417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 374
(I374F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066091]
[ENSMUST00000109885]
|
| AlphaFold |
P70340 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066091
AA Change: I374F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071035
Gene: ENSMUSG00000031681
AA Change: I374F
| Domain | Start | End | E-Value | Type |
|---|
|
DWA
|
25 |
134 |
6.94e-68 |
SMART |
|
low complexity region
|
179 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
DWB
|
269 |
441 |
2.73e-107 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109885
AA Change: I374F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105511
Gene: ENSMUSG00000031681
AA Change: I374F
| Domain | Start | End | E-Value | Type |
|---|
|
DWA
|
25 |
134 |
6.94e-68 |
SMART |
|
low complexity region
|
179 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
DWB
|
269 |
425 |
3.92e-76 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210678
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.1%
- 20x: 86.0%
|
| 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 mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired allantois formation resulting in the lack of a placenta, and die around embryonic day 9-10. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
T |
C |
8: 89,052,080 (GRCm39) |
V916A |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,728,315 (GRCm39) |
I759M |
possibly damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,166,677 (GRCm39) |
D438G |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,883,677 (GRCm39) |
Y1285C |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,960,678 (GRCm39) |
V764A |
possibly damaging |
Het |
| Cog8 |
T |
A |
8: 107,779,119 (GRCm39) |
|
probably null |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxo24 |
T |
C |
5: 137,616,701 (GRCm39) |
N394S |
probably damaging |
Het |
| Gm9938 |
A |
G |
19: 23,701,956 (GRCm39) |
|
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,050,824 (GRCm39) |
F422L |
probably damaging |
Het |
| Marchf3 |
A |
T |
18: 56,940,870 (GRCm39) |
C87S |
probably damaging |
Het |
| Mettl2 |
T |
A |
11: 105,028,570 (GRCm39) |
Y307* |
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,314,539 (GRCm39) |
D549G |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,752,722 (GRCm38) |
T867A |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,119,232 (GRCm39) |
T1852S |
probably benign |
Het |
| Or5aq1 |
T |
A |
2: 86,966,086 (GRCm39) |
H193L |
possibly damaging |
Het |
| Pdk4 |
A |
T |
6: 5,485,577 (GRCm39) |
S371T |
probably benign |
Het |
| Pkm |
A |
G |
9: 59,585,379 (GRCm39) |
T454A |
probably damaging |
Het |
| Satb2 |
G |
A |
1: 56,889,343 (GRCm39) |
S340F |
probably damaging |
Het |
| Scel |
G |
A |
14: 103,819,268 (GRCm39) |
V354I |
possibly damaging |
Het |
| Setdb1 |
T |
C |
3: 95,247,576 (GRCm39) |
T440A |
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,872,985 (GRCm39) |
F230S |
probably damaging |
Het |
| Slc22a23 |
A |
T |
13: 34,379,450 (GRCm39) |
I439N |
probably damaging |
Het |
| Slc9a5 |
G |
A |
8: 106,086,078 (GRCm39) |
R615Q |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,875,576 (GRCm39) |
E143G |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,429 (GRCm39) |
S797P |
probably benign |
Het |
|
| Other mutations in Smad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Smad1
|
APN |
8 |
80,083,098 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01792:Smad1
|
APN |
8 |
80,098,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Smad1
|
UTSW |
8 |
80,076,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0400:Smad1
|
UTSW |
8 |
80,098,399 (GRCm39) |
splice site |
probably benign |
|
|
R1371:Smad1
|
UTSW |
8 |
80,076,207 (GRCm39) |
splice site |
probably benign |
|
|
R1481:Smad1
|
UTSW |
8 |
80,070,359 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1661:Smad1
|
UTSW |
8 |
80,098,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Smad1
|
UTSW |
8 |
80,098,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Smad1
|
UTSW |
8 |
80,070,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2879:Smad1
|
UTSW |
8 |
80,080,084 (GRCm39) |
splice site |
probably null |
|
|
R3624:Smad1
|
UTSW |
8 |
80,066,327 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3791:Smad1
|
UTSW |
8 |
80,066,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3815:Smad1
|
UTSW |
8 |
80,070,359 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3819:Smad1
|
UTSW |
8 |
80,070,359 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4887:Smad1
|
UTSW |
8 |
80,076,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5438:Smad1
|
UTSW |
8 |
80,082,949 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8836:Smad1
|
UTSW |
8 |
80,098,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Smad1
|
UTSW |
8 |
80,098,899 (GRCm39) |
start gained |
probably benign |
|
|
X0064:Smad1
|
UTSW |
8 |
80,080,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGATTTACATGTTGTGAGAAGGC -3'
(R):5'- CTGAACAGACTGGCTGACACAAGG -3'
Sequencing Primer
(F):5'- ATGTGTGTGTGTTGGGGGAG -3'
(R):5'- CTGGCTGACACAAGGGTAAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation