Incidental Mutation 'IGL01408:Bmp2k'
| ID |
79886 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bmp2k
|
| Ensembl Gene |
ENSMUSG00000034663 |
| Gene Name |
BMP2 inducible kinase |
| Synonyms |
4933417M22Rik, BIKE |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
IGL01408
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
97145548-97239726 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 97234823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 749
(Q749*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035635]
[ENSMUST00000069453]
[ENSMUST00000112969]
|
| AlphaFold |
Q91Z96 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035635
AA Change: Q749*
|
| SMART Domains |
Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: Q749*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
37 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
48 |
309 |
8.9e-27 |
PFAM |
|
Pfam:Pkinase
|
48 |
311 |
1.6e-43 |
PFAM |
|
coiled coil region
|
455 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
838 |
852 |
N/A |
INTRINSIC |
|
Pfam:BMP2K_C
|
873 |
1138 |
7.9e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069453
|
| SMART Domains |
Protein: ENSMUSP00000069324
Gene: ENSMUSG00000055725
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
289 |
3.4e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112969
|
| SMART Domains |
Protein: ENSMUSP00000108593
Gene: ENSMUSG00000055725
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
289 |
1.4e-51 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530068E07Rik |
A |
G |
11: 52,294,193 (GRCm39) |
R145G |
probably damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,627,431 (GRCm39) |
M175K |
probably benign |
Het |
| Apol7a |
C |
T |
15: 77,273,530 (GRCm39) |
A311T |
probably damaging |
Het |
| Atxn10 |
G |
T |
15: 85,260,896 (GRCm39) |
E214* |
probably null |
Het |
| Ccdc141 |
G |
A |
2: 76,876,023 (GRCm39) |
A669V |
probably benign |
Het |
| Cndp2 |
A |
C |
18: 84,689,036 (GRCm39) |
C249G |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,802 (GRCm39) |
I397V |
possibly damaging |
Het |
| Col19a1 |
T |
C |
1: 24,345,331 (GRCm39) |
|
probably benign |
Het |
| Dbn1 |
T |
C |
13: 55,630,117 (GRCm39) |
|
probably benign |
Het |
| Dmgdh |
C |
T |
13: 93,845,803 (GRCm39) |
P486S |
probably damaging |
Het |
| Dpys |
A |
G |
15: 39,656,702 (GRCm39) |
V455A |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,546,702 (GRCm39) |
N907S |
probably benign |
Het |
| Fndc3c1 |
C |
T |
X: 105,476,378 (GRCm39) |
E894K |
probably benign |
Het |
| Gm6685 |
A |
T |
11: 28,289,473 (GRCm39) |
N114K |
probably damaging |
Het |
| Golga3 |
A |
T |
5: 110,365,675 (GRCm39) |
|
probably null |
Het |
| Grin2c |
A |
G |
11: 115,151,708 (GRCm39) |
L84P |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,675,009 (GRCm39) |
F1001L |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,767,169 (GRCm39) |
H910R |
unknown |
Het |
| Kdm4b |
T |
C |
17: 56,660,518 (GRCm39) |
|
probably benign |
Het |
| Lrrfip2 |
A |
G |
9: 111,043,284 (GRCm39) |
T497A |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,884 (GRCm39) |
Y924C |
probably damaging |
Het |
| Nkain2 |
T |
A |
10: 32,278,237 (GRCm39) |
T63S |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,013,742 (GRCm39) |
T503S |
probably benign |
Het |
| Or52n3 |
T |
C |
7: 104,530,037 (GRCm39) |
V41A |
probably benign |
Het |
| Or52n4 |
T |
A |
7: 104,294,136 (GRCm39) |
I146F |
possibly damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,623,078 (GRCm39) |
C780S |
probably damaging |
Het |
| Plekha5 |
C |
T |
6: 140,516,042 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
C |
T |
2: 72,005,185 (GRCm39) |
R193* |
probably null |
Het |
| Rbm20 |
A |
G |
19: 53,840,044 (GRCm39) |
E1011G |
possibly damaging |
Het |
| Rfx3 |
A |
T |
19: 27,746,050 (GRCm39) |
D685E |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,190,984 (GRCm39) |
S114P |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,318,863 (GRCm39) |
K502E |
probably benign |
Het |
| Spink2 |
A |
T |
5: 77,359,174 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
T |
12: 76,659,921 (GRCm39) |
I993N |
possibly damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tes |
A |
T |
6: 17,099,878 (GRCm39) |
Y291F |
probably damaging |
Het |
| Tmtc4 |
G |
T |
14: 123,163,366 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,959,637 (GRCm39) |
E683G |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,455 (GRCm39) |
D171G |
probably benign |
Het |
| Wbp11 |
A |
G |
6: 136,791,612 (GRCm39) |
|
probably benign |
Het |
| Wfdc12 |
A |
G |
2: 164,031,581 (GRCm39) |
*86R |
probably null |
Het |
| Zfp281 |
T |
C |
1: 136,553,853 (GRCm39) |
V277A |
probably damaging |
Het |
|
| Other mutations in Bmp2k |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00541:Bmp2k
|
APN |
5 |
97,211,407 (GRCm39) |
splice site |
probably null |
|
|
IGL02146:Bmp2k
|
APN |
5 |
97,212,689 (GRCm39) |
missense |
unknown |
|
|
IGL02232:Bmp2k
|
APN |
5 |
97,179,109 (GRCm39) |
splice site |
probably benign |
|
|
3-1:Bmp2k
|
UTSW |
5 |
97,200,979 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0277:Bmp2k
|
UTSW |
5 |
97,235,682 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0284:Bmp2k
|
UTSW |
5 |
97,216,314 (GRCm39) |
missense |
unknown |
|
|
R0323:Bmp2k
|
UTSW |
5 |
97,235,682 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0384:Bmp2k
|
UTSW |
5 |
97,178,984 (GRCm39) |
splice site |
probably benign |
|
|
R0726:Bmp2k
|
UTSW |
5 |
97,235,353 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1479:Bmp2k
|
UTSW |
5 |
97,201,059 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1686:Bmp2k
|
UTSW |
5 |
97,211,392 (GRCm39) |
missense |
unknown |
|
|
R1826:Bmp2k
|
UTSW |
5 |
97,209,261 (GRCm39) |
splice site |
probably benign |
|
|
R3842:Bmp2k
|
UTSW |
5 |
97,235,010 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3919:Bmp2k
|
UTSW |
5 |
97,222,599 (GRCm39) |
missense |
unknown |
|
|
R4649:Bmp2k
|
UTSW |
5 |
97,200,970 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4954:Bmp2k
|
UTSW |
5 |
97,234,623 (GRCm39) |
unclassified |
probably benign |
|
|
R4975:Bmp2k
|
UTSW |
5 |
97,234,944 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5001:Bmp2k
|
UTSW |
5 |
97,201,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Bmp2k
|
UTSW |
5 |
97,234,874 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5260:Bmp2k
|
UTSW |
5 |
97,235,210 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5516:Bmp2k
|
UTSW |
5 |
97,235,312 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5762:Bmp2k
|
UTSW |
5 |
97,235,050 (GRCm39) |
frame shift |
probably null |
|
|
R5807:Bmp2k
|
UTSW |
5 |
97,211,353 (GRCm39) |
missense |
unknown |
|
|
R5835:Bmp2k
|
UTSW |
5 |
97,204,841 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5928:Bmp2k
|
UTSW |
5 |
97,235,595 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6012:Bmp2k
|
UTSW |
5 |
97,211,467 (GRCm39) |
splice site |
probably null |
|
|
R6546:Bmp2k
|
UTSW |
5 |
97,235,937 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6664:Bmp2k
|
UTSW |
5 |
97,235,989 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6962:Bmp2k
|
UTSW |
5 |
97,179,097 (GRCm39) |
nonsense |
probably null |
|
|
R7081:Bmp2k
|
UTSW |
5 |
97,212,820 (GRCm39) |
missense |
unknown |
|
|
R7267:Bmp2k
|
UTSW |
5 |
97,216,293 (GRCm39) |
missense |
unknown |
|
|
R7473:Bmp2k
|
UTSW |
5 |
97,204,871 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7498:Bmp2k
|
UTSW |
5 |
97,235,978 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7659:Bmp2k
|
UTSW |
5 |
97,222,578 (GRCm39) |
missense |
unknown |
|
|
R8331:Bmp2k
|
UTSW |
5 |
97,192,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Bmp2k
|
UTSW |
5 |
97,175,753 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9355:Bmp2k
|
UTSW |
5 |
97,211,366 (GRCm39) |
nonsense |
probably null |
|
|
R9627:Bmp2k
|
UTSW |
5 |
97,201,028 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
X0026:Bmp2k
|
UTSW |
5 |
97,186,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Bmp2k
|
UTSW |
5 |
97,201,015 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2013-11-05 |
Incidental Mutation