Incidental Mutation 'R1317:Smad5'
| ID |
157578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smad5
|
| Ensembl Gene |
ENSMUSG00000021540 |
| Gene Name |
SMAD family member 5 |
| Synonyms |
Madh5, Smad 5, MusMLP |
| MMRRC Submission |
039383-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1317 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
56850823-56890190 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 56883884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069557]
[ENSMUST00000109874]
[ENSMUST00000109876]
|
| AlphaFold |
P97454 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069557
|
| SMART Domains |
Protein: ENSMUSP00000065798
Gene: ENSMUSG00000021540
| Domain | Start | End | E-Value | Type |
|---|
|
DWA
|
26 |
135 |
2.29e-68 |
SMART |
|
low complexity region
|
186 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
236 |
N/A |
INTRINSIC |
|
DWB
|
269 |
441 |
1.24e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109874
|
| SMART Domains |
Protein: ENSMUSP00000105500
Gene: ENSMUSG00000021540
| Domain | Start | End | E-Value | Type |
|---|
|
DWA
|
26 |
135 |
2.29e-68 |
SMART |
|
low complexity region
|
186 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
236 |
N/A |
INTRINSIC |
|
DWB
|
269 |
441 |
1.24e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109876
|
| SMART Domains |
Protein: ENSMUSP00000105502
Gene: ENSMUSG00000021540
| Domain | Start | End | E-Value | Type |
|---|
|
DWA
|
26 |
135 |
2.29e-68 |
SMART |
|
low complexity region
|
186 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
236 |
N/A |
INTRINSIC |
|
DWB
|
269 |
441 |
1.24e-105 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132302
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138677
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.9%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit vascular, craniofacial, and neural tube defects, improper turning, edema, and a deficiency of primordial germ cells. Mutants die between embryonic days 10.5 and 11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,066,535 (GRCm39) |
T576A |
probably benign |
Het |
| Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,863,127 (GRCm39) |
H223L |
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cryba2 |
G |
T |
1: 74,929,835 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
T |
C |
3: 159,228,924 (GRCm39) |
C559R |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
| Gm5519 |
T |
C |
19: 33,802,391 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
| Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
| Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
| Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
A |
G |
1: 173,465,029 (GRCm39) |
D53G |
possibly damaging |
Het |
| Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
| Jag2 |
T |
A |
12: 112,878,121 (GRCm39) |
M537L |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mt1 |
T |
C |
8: 94,906,781 (GRCm39) |
|
probably benign |
Het |
| Myo15b |
C |
A |
11: 115,774,460 (GRCm39) |
P2024Q |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,181,256 (GRCm39) |
|
probably benign |
Het |
| Rbm27 |
G |
A |
18: 42,457,116 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Scg3 |
G |
A |
9: 75,576,622 (GRCm39) |
T251M |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,360,888 (GRCm39) |
K179E |
possibly damaging |
Het |
| Tom1 |
T |
C |
8: 75,778,179 (GRCm39) |
V87A |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,571,328 (GRCm39) |
M159V |
probably benign |
Het |
| Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
| Zbtb1 |
A |
G |
12: 76,433,573 (GRCm39) |
S520G |
probably benign |
Het |
| Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
Het |
|
| Other mutations in Smad5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00870:Smad5
|
APN |
13 |
56,871,480 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01407:Smad5
|
APN |
13 |
56,883,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02267:Smad5
|
APN |
13 |
56,883,603 (GRCm39) |
splice site |
probably benign |
|
|
IGL03014:Smad5
|
UTSW |
13 |
56,883,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Smad5
|
UTSW |
13 |
56,885,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5401:Smad5
|
UTSW |
13 |
56,875,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5551:Smad5
|
UTSW |
13 |
56,883,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5734:Smad5
|
UTSW |
13 |
56,871,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5796:Smad5
|
UTSW |
13 |
56,871,645 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5988:Smad5
|
UTSW |
13 |
56,883,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7557:Smad5
|
UTSW |
13 |
56,875,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7769:Smad5
|
UTSW |
13 |
56,880,855 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8110:Smad5
|
UTSW |
13 |
56,871,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9215:Smad5
|
UTSW |
13 |
56,880,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:Smad5
|
UTSW |
13 |
56,885,242 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9432:Smad5
|
UTSW |
13 |
56,875,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Smad5
|
UTSW |
13 |
56,876,441 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTACTGGAGTTTGCTGTGCATC -3'
(R):5'- GCTGAAACTCACCACTCTGAGTCTC -3'
Sequencing Primer
(F):5'- AGTGTCTTAGTGACAGCAGCATC -3'
(R):5'- CTCAGGCCATGAGAGTGAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation