Incidental Mutation 'R6200:Smad9'
| ID |
503136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smad9
|
| Ensembl Gene |
ENSMUSG00000027796 |
| Gene Name |
SMAD family member 9 |
| Synonyms |
SMAD8B, SMAD8A, Madh9, MADH6 |
| MMRRC Submission |
044340-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
54663003-54708678 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54696607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 224
(D224G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029371]
|
| AlphaFold |
Q9JIW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029371
AA Change: D224G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029371
Gene: ENSMUSG00000027796
AA Change: D224G
| Domain | Start | End | E-Value | Type |
|---|
|
DWA
|
29 |
138 |
3.47e-68 |
SMART |
|
DWB
|
234 |
406 |
1.02e-106 |
SMART |
|
| Meta Mutation Damage Score |
0.1732 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
91% (32/35) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of a family of proteins that act as downstream effectors of the bone morphogenetic protein (BMP) signaling pathway. The encoded protein is phosphorylated by BMP receptors, which stimulates its binding to SMAD4 and translocation into the nucleus, where it functions as a regulator of transcription. Activity of this protein is important for embryonic development. Mutation of this gene results in defects in pulmonary vasculature. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutant mice in which exon 3 was deleted are viable and fertile. Mutant mice in which a neo cassette is inserted in exon 3 resulting in a hypomorphic allele exhibit reduced midbrain and hindbrain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,977,834 (GRCm39) |
H2719R |
probably damaging |
Het |
| Atraid |
A |
G |
5: 31,210,210 (GRCm39) |
N127D |
probably damaging |
Het |
| Capzb |
T |
C |
4: 139,007,324 (GRCm39) |
V145A |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,939,124 (GRCm39) |
N666D |
possibly damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,682,073 (GRCm39) |
R174S |
probably damaging |
Het |
| Cldn17 |
A |
C |
16: 88,303,459 (GRCm39) |
L90R |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Fancc |
A |
C |
13: 63,508,062 (GRCm39) |
L158V |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,730,927 (GRCm39) |
L60P |
probably benign |
Het |
| G6pd2 |
C |
T |
5: 61,967,214 (GRCm39) |
R330C |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,404,227 (GRCm39) |
N333I |
probably damaging |
Het |
| Herpud2 |
A |
G |
9: 25,062,130 (GRCm39) |
Y45H |
probably damaging |
Het |
| Icam5 |
A |
G |
9: 20,950,045 (GRCm39) |
Y868C |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
| Luzp1 |
C |
A |
4: 136,268,577 (GRCm39) |
Q267K |
probably benign |
Het |
| Nkpd1 |
C |
A |
7: 19,258,528 (GRCm39) |
A769E |
possibly damaging |
Het |
| Or5p58 |
AACTCTGTCACT |
AACT |
7: 107,694,732 (GRCm39) |
|
probably null |
Het |
| Pabpc4l |
C |
A |
3: 46,401,138 (GRCm39) |
V169L |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,135 (GRCm39) |
N381D |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,263,374 (GRCm39) |
N372Y |
possibly damaging |
Het |
| Ppp1r21 |
C |
T |
17: 88,876,613 (GRCm39) |
T475M |
possibly damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,139,776 (GRCm39) |
|
probably null |
Het |
| Psip1 |
T |
C |
4: 83,392,610 (GRCm39) |
K100E |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,053,111 (GRCm39) |
H1096R |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Slc16a8 |
C |
T |
15: 79,137,137 (GRCm39) |
G91D |
probably damaging |
Het |
| Slc22a21 |
A |
T |
11: 53,848,864 (GRCm39) |
I296N |
probably damaging |
Het |
| Tle2 |
G |
A |
10: 81,424,706 (GRCm39) |
V678M |
probably damaging |
Het |
| Tmc1 |
C |
T |
19: 20,766,954 (GRCm39) |
R749Q |
possibly damaging |
Het |
| Tmco3 |
T |
A |
8: 13,342,077 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
A |
G |
11: 87,652,529 (GRCm39) |
E101G |
possibly damaging |
Het |
| Zfp57 |
A |
T |
17: 37,321,303 (GRCm39) |
T386S |
probably benign |
Het |
|
| Other mutations in Smad9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02045:Smad9
|
APN |
3 |
54,693,593 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02666:Smad9
|
APN |
3 |
54,689,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Smad9
|
APN |
3 |
54,696,636 (GRCm39) |
missense |
probably benign |
|
|
Arachnida
|
UTSW |
3 |
54,696,607 (GRCm39) |
missense |
probably benign |
|
|
R1839:Smad9
|
UTSW |
3 |
54,696,600 (GRCm39) |
splice site |
probably benign |
|
|
R1888:Smad9
|
UTSW |
3 |
54,696,600 (GRCm39) |
splice site |
probably benign |
|
|
R3622:Smad9
|
UTSW |
3 |
54,696,705 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3623:Smad9
|
UTSW |
3 |
54,696,705 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3624:Smad9
|
UTSW |
3 |
54,696,705 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3708:Smad9
|
UTSW |
3 |
54,693,602 (GRCm39) |
missense |
probably benign |
|
|
R4469:Smad9
|
UTSW |
3 |
54,690,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Smad9
|
UTSW |
3 |
54,701,874 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4938:Smad9
|
UTSW |
3 |
54,696,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5139:Smad9
|
UTSW |
3 |
54,704,827 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5783:Smad9
|
UTSW |
3 |
54,701,863 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6437:Smad9
|
UTSW |
3 |
54,693,505 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6478:Smad9
|
UTSW |
3 |
54,689,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6552:Smad9
|
UTSW |
3 |
54,690,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Smad9
|
UTSW |
3 |
54,693,614 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7314:Smad9
|
UTSW |
3 |
54,696,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7492:Smad9
|
UTSW |
3 |
54,693,747 (GRCm39) |
splice site |
probably null |
|
|
R7683:Smad9
|
UTSW |
3 |
54,696,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8278:Smad9
|
UTSW |
3 |
54,696,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9457:Smad9
|
UTSW |
3 |
54,696,756 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1177:Smad9
|
UTSW |
3 |
54,693,643 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGGCCTTAAACTCAGG -3'
(R):5'- TTCCAATGTGCCTCCTGGTG -3'
Sequencing Primer
(F):5'- CTGTGGCCTTAAACTCAGGGATAC -3'
(R):5'- TCTGTTTACATTTGAGAGAAGCCC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation