Incidental Mutation 'R2655:Bbs9'
| ID |
252670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbs9
|
| Ensembl Gene |
ENSMUSG00000035919 |
| Gene Name |
Bardet-Biedl syndrome 9 |
| Synonyms |
E130103I17Rik, EST 3159894 |
| MMRRC Submission |
040430-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
R2655 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
22387011-22799576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22415348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 91
(E91K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039798]
[ENSMUST00000128812]
[ENSMUST00000142313]
[ENSMUST00000147405]
[ENSMUST00000147712]
[ENSMUST00000150395]
|
| AlphaFold |
Q811G0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039798
AA Change: E91K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043042
Gene: ENSMUSG00000035919
AA Change: E91K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PHTB1_N
|
1 |
421 |
8e-168 |
PFAM |
|
Pfam:PHTB1_C
|
439 |
814 |
8.3e-163 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128812
AA Change: E91K
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117700
Gene: ENSMUSG00000035919
AA Change: E91K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PHTB1_N
|
1 |
147 |
2.4e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142313
AA Change: E91K
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122325
Gene: ENSMUSG00000035919
AA Change: E91K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PHTB1_N
|
1 |
132 |
2.6e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147405
AA Change: E91K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120927
Gene: ENSMUSG00000035919
AA Change: E91K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PHTB1_N
|
1 |
417 |
1.1e-166 |
PFAM |
|
Pfam:PHTB1_C
|
440 |
818 |
7e-158 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147712
AA Change: E91K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122058
Gene: ENSMUSG00000035919
AA Change: E91K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PHTB1_N
|
1 |
421 |
8e-168 |
PFAM |
|
Pfam:PHTB1_C
|
439 |
814 |
8.3e-163 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150395
AA Change: E91K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116629
Gene: ENSMUSG00000035919
AA Change: E91K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PHTB1_N
|
1 |
421 |
8e-168 |
PFAM |
|
Pfam:PHTB1_C
|
439 |
814 |
8.3e-163 |
PFAM |
|
| Meta Mutation Damage Score |
0.1264 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
A |
12: 84,122,650 (GRCm39) |
S411R |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,065,174 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Casp4 |
C |
A |
9: 5,322,894 (GRCm39) |
L57I |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,302,191 (GRCm39) |
K169E |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,359 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,027 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,688,399 (GRCm39) |
S165P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,292,703 (GRCm39) |
S115P |
probably damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,917 (GRCm39) |
S120P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,872,016 (GRCm39) |
S236P |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Igfbpl1 |
T |
C |
4: 45,816,289 (GRCm39) |
T179A |
probably damaging |
Het |
| Ighv14-4 |
T |
G |
12: 114,140,068 (GRCm39) |
Y114S |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,929,657 (GRCm39) |
I29V |
probably benign |
Het |
| Junb |
A |
G |
8: 85,704,137 (GRCm39) |
S308P |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,161,314 (GRCm39) |
E198G |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,312,978 (GRCm39) |
R33H |
possibly damaging |
Het |
| Map3k20 |
C |
A |
2: 72,263,764 (GRCm39) |
T471K |
probably damaging |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,444,405 (GRCm39) |
W237R |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,698,638 (GRCm39) |
M308V |
probably benign |
Het |
| Or8g35 |
A |
T |
9: 39,381,924 (GRCm39) |
S33T |
probably benign |
Het |
| Patj |
T |
C |
4: 98,325,687 (GRCm39) |
V508A |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,464 (GRCm39) |
V2319A |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,942,330 (GRCm39) |
Y83C |
probably damaging |
Het |
| Prb1a |
G |
C |
6: 132,187,425 (GRCm39) |
Q19E |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,645,373 (GRCm39) |
T189A |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,938,966 (GRCm39) |
D777E |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,569,873 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
A |
G |
1: 106,928,157 (GRCm39) |
D259G |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,346,917 (GRCm39) |
R253Q |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,331,475 (GRCm39) |
E203G |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,576,597 (GRCm39) |
D252E |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,801,294 (GRCm39) |
|
probably null |
Het |
| Ttll7 |
A |
G |
3: 146,653,376 (GRCm39) |
Y729C |
probably damaging |
Het |
| Usp35 |
T |
A |
7: 96,961,354 (GRCm39) |
T691S |
probably benign |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,586 (GRCm39) |
V27A |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,477 (GRCm39) |
T191A |
possibly damaging |
Het |
| Vwa5b1 |
C |
T |
4: 138,321,614 (GRCm39) |
G393D |
probably damaging |
Het |
|
| Other mutations in Bbs9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01349:Bbs9
|
APN |
9 |
22,798,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01586:Bbs9
|
APN |
9 |
22,557,293 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01646:Bbs9
|
APN |
9 |
22,582,221 (GRCm39) |
nonsense |
probably null |
|
|
IGL01654:Bbs9
|
APN |
9 |
22,402,238 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02172:Bbs9
|
APN |
9 |
22,490,772 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02212:Bbs9
|
APN |
9 |
22,723,808 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02444:Bbs9
|
APN |
9 |
22,555,083 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02829:Bbs9
|
APN |
9 |
22,490,780 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03385:Bbs9
|
APN |
9 |
22,555,044 (GRCm39) |
missense |
probably benign |
0.19 |
|
corpulent
|
UTSW |
9 |
22,486,492 (GRCm39) |
critical splice donor site |
probably null |
|
|
Crapulence
|
UTSW |
9 |
22,479,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Bbs9
|
UTSW |
9 |
22,415,390 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0243:Bbs9
|
UTSW |
9 |
22,425,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Bbs9
|
UTSW |
9 |
22,408,111 (GRCm39) |
missense |
probably benign |
|
|
R0688:Bbs9
|
UTSW |
9 |
22,479,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0726:Bbs9
|
UTSW |
9 |
22,705,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0749:Bbs9
|
UTSW |
9 |
22,486,497 (GRCm39) |
splice site |
probably null |
|
|
R0783:Bbs9
|
UTSW |
9 |
22,479,010 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1148:Bbs9
|
UTSW |
9 |
22,486,396 (GRCm39) |
splice site |
probably benign |
|
|
R1532:Bbs9
|
UTSW |
9 |
22,798,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Bbs9
|
UTSW |
9 |
22,570,415 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2285:Bbs9
|
UTSW |
9 |
22,590,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2402:Bbs9
|
UTSW |
9 |
22,557,359 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3428:Bbs9
|
UTSW |
9 |
22,479,183 (GRCm39) |
splice site |
probably benign |
|
|
R3798:Bbs9
|
UTSW |
9 |
22,550,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Bbs9
|
UTSW |
9 |
22,798,926 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4660:Bbs9
|
UTSW |
9 |
22,490,063 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4873:Bbs9
|
UTSW |
9 |
22,490,011 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4875:Bbs9
|
UTSW |
9 |
22,490,011 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5291:Bbs9
|
UTSW |
9 |
22,540,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Bbs9
|
UTSW |
9 |
22,486,492 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5502:Bbs9
|
UTSW |
9 |
22,415,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Bbs9
|
UTSW |
9 |
22,490,011 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5932:Bbs9
|
UTSW |
9 |
22,723,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6222:Bbs9
|
UTSW |
9 |
22,479,147 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6451:Bbs9
|
UTSW |
9 |
22,479,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Bbs9
|
UTSW |
9 |
22,425,365 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6726:Bbs9
|
UTSW |
9 |
22,557,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6745:Bbs9
|
UTSW |
9 |
22,582,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6908:Bbs9
|
UTSW |
9 |
22,479,019 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6919:Bbs9
|
UTSW |
9 |
22,723,840 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7102:Bbs9
|
UTSW |
9 |
22,490,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Bbs9
|
UTSW |
9 |
22,582,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Bbs9
|
UTSW |
9 |
22,582,109 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8177:Bbs9
|
UTSW |
9 |
22,425,359 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8190:Bbs9
|
UTSW |
9 |
22,590,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Bbs9
|
UTSW |
9 |
22,590,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8440:Bbs9
|
UTSW |
9 |
22,479,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8733:Bbs9
|
UTSW |
9 |
22,582,128 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8737:Bbs9
|
UTSW |
9 |
22,590,244 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8854:Bbs9
|
UTSW |
9 |
22,490,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Bbs9
|
UTSW |
9 |
22,590,234 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9135:Bbs9
|
UTSW |
9 |
22,490,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Bbs9
|
UTSW |
9 |
22,566,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGAGTCAGTGGCAGGTAC -3'
(R):5'- ATGGCGAGATTATAGGAAACCC -3'
Sequencing Primer
(F):5'- TGGCAGGTACCCACTGG -3'
(R):5'- TAGGAAACCCTCTGATAAAAACAGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation