Incidental Mutation 'R4768:Bmp4'
| ID |
366299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp4
|
| Ensembl Gene |
ENSMUSG00000021835 |
| Gene Name |
bone morphogenetic protein 4 |
| Synonyms |
Bmp2b-1, Bmp2b1, Bmp2b, Bmp-4 |
| MMRRC Submission |
042409-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4768 (G1)
|
| Quality Score |
157 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
46620982-46628126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46623381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 55
(R55Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074077]
[ENSMUST00000100676]
[ENSMUST00000111826]
[ENSMUST00000141358]
|
| AlphaFold |
P21275 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074077
AA Change: R55Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073720
Gene: ENSMUSG00000021835
AA Change: R55Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGFb_propeptide
|
13 |
276 |
1.7e-77 |
PFAM |
|
TGFB
|
308 |
408 |
4.53e-67 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100676
AA Change: R55Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098242
Gene: ENSMUSG00000021835
AA Change: R55Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
39 |
276 |
3.7e-55 |
PFAM |
|
TGFB
|
308 |
408 |
4.53e-67 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127359
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135408
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228667
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Homozygous knockout mice die in utero, while a conditional knockout mouse exhibits defects in heart development. Transgenic mice overexpressing this gene in a neuron-specific manner exhibit a phenotype resembling the rare hereditary connective tissue disease, fibrodysplasia ossificans progressiva. [provided by RefSeq, Jul 2016]
PHENOTYPE: Targeted mutants have wide ranging effects, including embryonic lethality, aberrant mesoderm differentation, developmental retardation and disorganized posterior structures; heterozygous null mutants display anomalies of the kidney and urinary tract; other targeted mutants display failure of lens induction and lack primordial germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
A |
G |
3: 153,628,579 (GRCm39) |
Y419H |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,872,264 (GRCm39) |
V326A |
possibly damaging |
Het |
| Amdhd1 |
T |
A |
10: 93,370,346 (GRCm39) |
E164V |
possibly damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,604,275 (GRCm39) |
L29S |
probably damaging |
Het |
| Asb5 |
G |
A |
8: 55,038,031 (GRCm39) |
D185N |
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,576,595 (GRCm39) |
I850T |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,711,024 (GRCm39) |
V636A |
probably damaging |
Het |
| Brd8dc |
T |
C |
18: 34,714,005 (GRCm39) |
R207G |
probably damaging |
Het |
| Cmas |
T |
C |
6: 142,710,157 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,420,827 (GRCm39) |
D531G |
possibly damaging |
Het |
| Etv1 |
T |
C |
12: 38,877,792 (GRCm39) |
L44P |
probably damaging |
Het |
| Fam13c |
T |
A |
10: 70,387,580 (GRCm39) |
I448N |
probably damaging |
Het |
| Fcsk |
T |
C |
8: 111,618,766 (GRCm39) |
T331A |
probably benign |
Het |
| Fut8 |
A |
G |
12: 77,412,054 (GRCm39) |
K135E |
probably benign |
Het |
| Gabrg1 |
A |
G |
5: 70,911,516 (GRCm39) |
F370S |
probably damaging |
Het |
| Ighv1-5 |
A |
T |
12: 114,477,143 (GRCm39) |
M53K |
probably damaging |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Kansl1l |
A |
G |
1: 66,840,292 (GRCm39) |
V336A |
probably damaging |
Het |
| Krt27 |
T |
A |
11: 99,240,351 (GRCm39) |
D189V |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 13,949,461 (GRCm39) |
F1033I |
possibly damaging |
Het |
| Mdfi |
G |
A |
17: 48,135,475 (GRCm39) |
T85M |
probably damaging |
Het |
| Mrgpra3 |
C |
A |
7: 47,239,476 (GRCm39) |
R150L |
possibly damaging |
Het |
| Mst1r |
C |
A |
9: 107,788,849 (GRCm39) |
T456K |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,263,099 (GRCm39) |
M1734K |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,277,751 (GRCm39) |
I816T |
possibly damaging |
Het |
| Or7d10 |
A |
C |
9: 19,831,841 (GRCm39) |
N112T |
possibly damaging |
Het |
| Or8b12 |
T |
C |
9: 37,658,177 (GRCm39) |
L249P |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,727,245 (GRCm39) |
Y149N |
probably damaging |
Het |
| Or8k28 |
A |
T |
2: 86,285,994 (GRCm39) |
L207* |
probably null |
Het |
| Pde4d |
A |
G |
13: 110,070,408 (GRCm39) |
R6G |
probably damaging |
Het |
| Pilrb1 |
G |
A |
5: 137,855,788 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,085,334 (GRCm39) |
Y199H |
probably damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,594,175 (GRCm39) |
D73G |
probably damaging |
Het |
| Ryr1 |
G |
T |
7: 28,704,246 (GRCm39) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,057,284 (GRCm39) |
E1068G |
probably damaging |
Het |
| Slc19a3 |
G |
A |
1: 83,000,834 (GRCm39) |
T61I |
probably damaging |
Het |
| Slc9a2 |
G |
A |
1: 40,765,534 (GRCm39) |
R308Q |
probably damaging |
Het |
| Suclg2 |
T |
G |
6: 95,543,469 (GRCm39) |
I321L |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,599,110 (GRCm39) |
|
probably benign |
Het |
| Upp2 |
T |
C |
2: 58,667,907 (GRCm39) |
V182A |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,602 (GRCm39) |
L151P |
probably damaging |
Het |
| Xylt2 |
T |
C |
11: 94,561,298 (GRCm39) |
D155G |
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,154,420 (GRCm39) |
D557G |
probably damaging |
Het |
|
| Other mutations in Bmp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02612:Bmp4
|
APN |
14 |
46,621,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0749:Bmp4
|
UTSW |
14 |
46,622,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1052:Bmp4
|
UTSW |
14 |
46,621,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3104:Bmp4
|
UTSW |
14 |
46,623,438 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3787:Bmp4
|
UTSW |
14 |
46,623,171 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3938:Bmp4
|
UTSW |
14 |
46,621,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Bmp4
|
UTSW |
14 |
46,621,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Bmp4
|
UTSW |
14 |
46,621,950 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5421:Bmp4
|
UTSW |
14 |
46,623,355 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7189:Bmp4
|
UTSW |
14 |
46,621,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Bmp4
|
UTSW |
14 |
46,621,972 (GRCm39) |
missense |
probably benign |
|
|
R8915:Bmp4
|
UTSW |
14 |
46,621,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Bmp4
|
UTSW |
14 |
46,622,085 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCACAAACTGACCTTCGTG -3'
(R):5'- CCCAGAGACACCATGATTCCTG -3'
Sequencing Primer
(F):5'- TCGTGATGGAAACTCCTCACAGTG -3'
(R):5'- CATGATTCCTGGTAACCGAATGCTG -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation