Incidental Mutation 'R0656:Ibsp'
| ID |
226138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ibsp
|
| Ensembl Gene |
ENSMUSG00000029306 |
| Gene Name |
integrin binding sialoprotein |
| Synonyms |
Bsp2, bone sialoprotein, BSP, Bsp |
| MMRRC Submission |
038841-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R0656 (G1)
|
| Quality Score |
70 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104447153-104459338 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 104457886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031246]
|
| AlphaFold |
Q61711 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031246
|
| SMART Domains |
Protein: ENSMUSP00000031246
Gene: ENSMUSG00000029306
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:BSP_II
|
17 |
321 |
2.8e-127 |
PFAM |
|
| Meta Mutation Damage Score |
0.9480 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.2%
|
| Validation Efficiency |
98% (92/94) |
| 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 a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body weight/size, delayed long bone growth and mineralization with low bone turn over due to reduced osteoclast formation, delayed intramembranous ossification, progressive periodontal breakdown, and severe alveolar and mandibular bone loss. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2)
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
T |
A |
10: 70,704,630 (GRCm39) |
|
noncoding transcript |
Het |
| Alox5 |
A |
G |
6: 116,400,291 (GRCm39) |
|
probably benign |
Het |
| Anxa11 |
T |
A |
14: 25,874,421 (GRCm39) |
D203E |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,611,938 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bloc1s6 |
A |
G |
2: 122,584,543 (GRCm39) |
I39M |
probably benign |
Het |
| Celsr3 |
A |
C |
9: 108,711,854 (GRCm39) |
I1688L |
possibly damaging |
Het |
| Cgn |
T |
C |
3: 94,682,204 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
A |
T |
6: 125,079,930 (GRCm39) |
I453F |
probably damaging |
Het |
| Dbnl |
A |
G |
11: 5,747,321 (GRCm39) |
T247A |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,571,136 (GRCm39) |
E46G |
possibly damaging |
Het |
| Dsg1a |
T |
C |
18: 20,468,949 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
C |
T |
13: 63,019,099 (GRCm39) |
E150K |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,927,352 (GRCm38) |
L1854Q |
probably damaging |
Het |
| Gcn1 |
C |
T |
5: 115,727,362 (GRCm39) |
T714M |
probably benign |
Het |
| Gm12216 |
A |
T |
11: 53,704,162 (GRCm39) |
|
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Hmbs |
T |
A |
9: 44,248,657 (GRCm39) |
H256L |
probably benign |
Het |
| Ints13 |
A |
G |
6: 146,453,959 (GRCm39) |
V240A |
probably benign |
Het |
| Iqca1l |
C |
T |
5: 24,754,760 (GRCm39) |
V337M |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,852,837 (GRCm39) |
D343G |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,090,531 (GRCm39) |
|
probably benign |
Het |
| Klhdc1 |
T |
C |
12: 69,304,804 (GRCm39) |
V192A |
probably benign |
Het |
| Lpar3 |
T |
A |
3: 145,946,426 (GRCm39) |
C35S |
possibly damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,953 (GRCm39) |
I122V |
possibly damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,452 (GRCm39) |
M222T |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,570,488 (GRCm39) |
S516Y |
possibly damaging |
Het |
| Myo1e |
A |
T |
9: 70,274,956 (GRCm39) |
Q703L |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,115,570 (GRCm39) |
|
probably benign |
Het |
| Necab3 |
T |
G |
2: 154,388,223 (GRCm39) |
E239A |
probably null |
Het |
| Npr1 |
G |
T |
3: 90,368,676 (GRCm39) |
N461K |
probably benign |
Het |
| Or4k44 |
T |
C |
2: 111,367,972 (GRCm39) |
I221V |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,543 (GRCm39) |
Y172C |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,474,954 (GRCm39) |
D30G |
probably benign |
Het |
| Phf12 |
A |
C |
11: 77,920,158 (GRCm39) |
Q898P |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,309,821 (GRCm39) |
E132G |
possibly damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,270,075 (GRCm39) |
V29A |
probably benign |
Het |
| Rundc3b |
T |
A |
5: 8,619,529 (GRCm39) |
I143F |
probably damaging |
Het |
| Ryr3 |
T |
G |
2: 112,478,651 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,626,901 (GRCm39) |
|
probably null |
Het |
| Slc4a2 |
A |
G |
5: 24,636,257 (GRCm39) |
D201G |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,150,871 (GRCm39) |
|
probably null |
Het |
| Timm21 |
T |
C |
18: 84,967,326 (GRCm39) |
H150R |
probably damaging |
Het |
| Tmem79 |
T |
C |
3: 88,240,241 (GRCm39) |
T236A |
probably damaging |
Het |
| Usp34 |
G |
T |
11: 23,422,967 (GRCm39) |
V3095F |
probably damaging |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,573 (GRCm39) |
Q208L |
probably benign |
Het |
|
| Other mutations in Ibsp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00687:Ibsp
|
APN |
5 |
104,457,934 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02317:Ibsp
|
APN |
5 |
104,450,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02539:Ibsp
|
APN |
5 |
104,450,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03236:Ibsp
|
APN |
5 |
104,453,871 (GRCm39) |
missense |
probably benign |
0.30 |
|
crunch
|
UTSW |
5 |
104,457,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2289:Ibsp
|
UTSW |
5 |
104,450,353 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
PIT4445001:Ibsp
|
UTSW |
5 |
104,450,170 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0049:Ibsp
|
UTSW |
5 |
104,450,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Ibsp
|
UTSW |
5 |
104,450,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Ibsp
|
UTSW |
5 |
104,457,935 (GRCm39) |
small deletion |
probably benign |
|
|
R0610:Ibsp
|
UTSW |
5 |
104,458,000 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1168:Ibsp
|
UTSW |
5 |
104,450,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1440:Ibsp
|
UTSW |
5 |
104,458,405 (GRCm39) |
missense |
unknown |
|
|
R1569:Ibsp
|
UTSW |
5 |
104,458,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Ibsp
|
UTSW |
5 |
104,458,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2172:Ibsp
|
UTSW |
5 |
104,458,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2879:Ibsp
|
UTSW |
5 |
104,458,260 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4399:Ibsp
|
UTSW |
5 |
104,457,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4517:Ibsp
|
UTSW |
5 |
104,453,863 (GRCm39) |
nonsense |
probably null |
|
|
R5417:Ibsp
|
UTSW |
5 |
104,458,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5575:Ibsp
|
UTSW |
5 |
104,457,925 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6183:Ibsp
|
UTSW |
5 |
104,453,896 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6273:Ibsp
|
UTSW |
5 |
104,458,167 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6295:Ibsp
|
UTSW |
5 |
104,449,987 (GRCm39) |
splice site |
probably null |
|
|
R7061:Ibsp
|
UTSW |
5 |
104,457,768 (GRCm39) |
splice site |
probably null |
|
|
R7133:Ibsp
|
UTSW |
5 |
104,450,172 (GRCm39) |
nonsense |
probably null |
|
|
R7202:Ibsp
|
UTSW |
5 |
104,450,027 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7205:Ibsp
|
UTSW |
5 |
104,458,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7769:Ibsp
|
UTSW |
5 |
104,458,050 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7769:Ibsp
|
UTSW |
5 |
104,453,871 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8506:Ibsp
|
UTSW |
5 |
104,457,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8840:Ibsp
|
UTSW |
5 |
104,458,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9396:Ibsp
|
UTSW |
5 |
104,458,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Ibsp
|
UTSW |
5 |
104,457,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACAGGATTATCACGTACACCCC -3'
(R):5'- TGAAACCCGTTCAGAAGGACAGC -3'
Sequencing Primer
(F):5'- CCAACCCATTGGAACGCATC -3'
(R):5'- TGCACCTGCTTCAGTGACG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation