Incidental Mutation 'R5713:Bmp6'
| ID |
451010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp6
|
| Ensembl Gene |
ENSMUSG00000039004 |
| Gene Name |
bone morphogenetic protein 6 |
| Synonyms |
Vgr1, D13Wsu115e |
| MMRRC Submission |
043335-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
38529098-38684283 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 38682928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 473
(P473S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035988]
[ENSMUST00000160653]
[ENSMUST00000162075]
[ENSMUST00000171970]
|
| AlphaFold |
P20722 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035988
|
| SMART Domains |
Protein: ENSMUSP00000041839
Gene: ENSMUSG00000038991
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
49 |
153 |
5.3e-28 |
PFAM |
|
low complexity region
|
156 |
172 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
176 |
279 |
2.8e-30 |
PFAM |
|
Pfam:Thioredoxin
|
308 |
412 |
6.2e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160046
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160653
|
| SMART Domains |
Protein: ENSMUSP00000124401
Gene: ENSMUSG00000038991
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
1 |
80 |
6.3e-22 |
PFAM |
|
low complexity region
|
83 |
99 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
103 |
206 |
4.2e-31 |
PFAM |
|
Pfam:Thioredoxin
|
235 |
339 |
3.9e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162075
|
| SMART Domains |
Protein: ENSMUSP00000124516
Gene: ENSMUSG00000038991
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
1 |
59 |
1.5e-13 |
PFAM |
|
low complexity region
|
62 |
78 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
82 |
185 |
5e-31 |
PFAM |
|
Pfam:Thioredoxin
|
214 |
318 |
4.6e-32 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171970
AA Change: P473S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126999
Gene: ENSMUSG00000039004
AA Change: P473S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
56 |
359 |
2.3e-100 |
PFAM |
|
low complexity region
|
368 |
389 |
N/A |
INTRINSIC |
|
TGFB
|
409 |
510 |
6.8e-71 |
SMART |
|
| Meta Mutation Damage Score |
0.4961 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (56/57) |
| 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 a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Mice lacking this gene exhibit delayed ossification of the sternum, iron overload, and reduced fertility in females. [provided by RefSeq, Jul 2016]
PHENOTYPE: One homozygous null mutant showed delayed ossification in the developing sternum while females of a second null mutant were smaller than normal in size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,889,414 (GRCm39) |
Y431* |
probably null |
Het |
| Abtb3 |
A |
T |
10: 85,487,516 (GRCm39) |
I995F |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,091 (GRCm39) |
R1515S |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,739,651 (GRCm39) |
V63A |
probably benign |
Het |
| Casp3 |
C |
A |
8: 47,089,349 (GRCm39) |
T199K |
probably damaging |
Het |
| Ccl3 |
C |
T |
11: 83,540,066 (GRCm39) |
C13Y |
possibly damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,911,975 (GRCm39) |
S518P |
probably benign |
Het |
| Clic3 |
A |
T |
2: 25,348,179 (GRCm39) |
I109F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,916,049 (GRCm39) |
D2301V |
possibly damaging |
Het |
| Gm26627 |
A |
G |
6: 29,507,850 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
A |
T |
7: 104,471,000 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
A |
C |
2: 34,903,543 (GRCm39) |
I1037S |
probably damaging |
Het |
| Il2rb |
A |
G |
15: 78,376,048 (GRCm39) |
M1T |
probably null |
Het |
| Ing5 |
T |
A |
1: 93,740,452 (GRCm39) |
D124E |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,248,793 (GRCm39) |
E90G |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,836,949 (GRCm39) |
I522N |
probably benign |
Het |
| Lipa |
A |
T |
19: 34,500,832 (GRCm39) |
H71Q |
probably benign |
Het |
| Lmnb2 |
C |
T |
10: 80,741,921 (GRCm39) |
V57M |
probably damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,448 (GRCm39) |
M200K |
probably benign |
Het |
| Mtpap |
G |
A |
18: 4,396,280 (GRCm39) |
S524N |
probably benign |
Het |
| Mup21 |
C |
G |
4: 62,068,511 (GRCm39) |
E52Q |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,471,558 (GRCm39) |
F90L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,661,237 (GRCm39) |
D343G |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,219,870 (GRCm39) |
F237I |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,446,184 (GRCm39) |
I103T |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,114,813 (GRCm39) |
S430T |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,508,669 (GRCm39) |
N843D |
possibly damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,183 (GRCm39) |
M37K |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,935,060 (GRCm39) |
I864V |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,435,910 (GRCm39) |
T130A |
probably damaging |
Het |
| Rbm24 |
A |
G |
13: 46,582,780 (GRCm39) |
D233G |
probably damaging |
Het |
| Rps29 |
C |
A |
12: 69,205,502 (GRCm39) |
R32L |
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,851 (GRCm39) |
E226G |
probably damaging |
Het |
| Siglecg |
A |
T |
7: 43,058,226 (GRCm39) |
I38F |
probably damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,880,853 (GRCm39) |
M308L |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,266,283 (GRCm39) |
V631A |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,792,545 (GRCm39) |
*58W |
probably null |
Het |
| Trgc2 |
T |
A |
13: 19,491,515 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,293,515 (GRCm39) |
V203E |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,290 (GRCm39) |
L411P |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,597,476 (GRCm39) |
D42E |
probably benign |
Het |
|
| Other mutations in Bmp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01351:Bmp6
|
APN |
13 |
38,653,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01409:Bmp6
|
APN |
13 |
38,669,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01646:Bmp6
|
APN |
13 |
38,682,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01823:Bmp6
|
APN |
13 |
38,682,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Bmp6
|
APN |
13 |
38,682,887 (GRCm39) |
splice site |
probably benign |
|
|
IGL03337:Bmp6
|
APN |
13 |
38,682,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Inkwell
|
UTSW |
13 |
38,682,795 (GRCm39) |
nonsense |
probably null |
|
|
Pigtail
|
UTSW |
13 |
38,668,896 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4431001:Bmp6
|
UTSW |
13 |
38,669,906 (GRCm39) |
missense |
probably benign |
|
|
R1218:Bmp6
|
UTSW |
13 |
38,530,226 (GRCm39) |
small deletion |
probably benign |
|
|
R1225:Bmp6
|
UTSW |
13 |
38,530,257 (GRCm39) |
missense |
probably benign |
|
|
R4579:Bmp6
|
UTSW |
13 |
38,653,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Bmp6
|
UTSW |
13 |
38,669,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Bmp6
|
UTSW |
13 |
38,653,673 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5842:Bmp6
|
UTSW |
13 |
38,530,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6319:Bmp6
|
UTSW |
13 |
38,530,390 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7348:Bmp6
|
UTSW |
13 |
38,669,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7565:Bmp6
|
UTSW |
13 |
38,530,233 (GRCm39) |
nonsense |
probably null |
|
|
R7669:Bmp6
|
UTSW |
13 |
38,668,896 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7681:Bmp6
|
UTSW |
13 |
38,530,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Bmp6
|
UTSW |
13 |
38,653,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8219:Bmp6
|
UTSW |
13 |
38,529,963 (GRCm39) |
missense |
unknown |
|
|
R8842:Bmp6
|
UTSW |
13 |
38,682,795 (GRCm39) |
nonsense |
probably null |
|
|
R8842:Bmp6
|
UTSW |
13 |
38,530,359 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9048:Bmp6
|
UTSW |
13 |
38,682,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGCACCCAAAGGCTACG -3'
(R):5'- TTGTTAGGAATCCAAGGCAGAAC -3'
Sequencing Primer
(F):5'- TACGCTGCCAACTACTGTGATGG -3'
(R):5'- TAGGAATCCAAGGCAGAACCATGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation