Incidental Mutation 'R8440:Bbs9'
ID 660393
Institutional Source Beutler Lab
Gene Symbol Bbs9
Ensembl Gene ENSMUSG00000035919
Gene Name Bardet-Biedl syndrome 9
Synonyms E130103I17Rik, EST 3159894
MMRRC Submission 067884-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.827) question?
Stock # R8440 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 22387011-22799576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22479046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 163 (V163E)
Ref Sequence ENSEMBL: ENSMUSP00000120927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039798] [ENSMUST00000147405] [ENSMUST00000147712] [ENSMUST00000150395]
AlphaFold Q811G0
Predicted Effect probably damaging
Transcript: ENSMUST00000039798
AA Change: V163E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043042
Gene: ENSMUSG00000035919
AA Change: V163E

DomainStartEndE-ValueType
Pfam:PHTB1_N 1 421 8e-168 PFAM
Pfam:PHTB1_C 439 814 8.3e-163 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147405
AA Change: V163E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120927
Gene: ENSMUSG00000035919
AA Change: V163E

DomainStartEndE-ValueType
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: V163E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122058
Gene: ENSMUSG00000035919
AA Change: V163E

DomainStartEndE-ValueType
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: V163E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116629
Gene: ENSMUSG00000035919
AA Change: V163E

DomainStartEndE-ValueType
Pfam:PHTB1_N 1 421 8e-168 PFAM
Pfam:PHTB1_C 439 814 8.3e-163 PFAM
Meta Mutation Damage Score 0.2052 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (38/39)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak5 G C 3: 152,209,680 (GRCm39) probably null Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Cbr3 T C 16: 93,480,421 (GRCm39) I70T probably damaging Het
Chka T C 19: 3,943,375 (GRCm39) Y426H probably damaging Het
Cpq T A 15: 33,213,341 (GRCm39) M120K possibly damaging Het
Dcaf1 T A 9: 106,725,073 (GRCm39) C520S possibly damaging Het
Egfr T C 11: 16,859,831 (GRCm39) Y1018H probably damaging Het
Eif3l T C 15: 78,961,120 (GRCm39) Y58H possibly damaging Het
Frmd8 T C 19: 5,915,202 (GRCm39) Y234C possibly damaging Het
Fus T C 7: 127,568,998 (GRCm39) Y50H unknown Het
Hmcn1 T A 1: 150,570,671 (GRCm39) Q2164L probably damaging Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hsd11b1 T C 1: 192,904,420 (GRCm39) K260E probably benign Het
Igkv4-91 C T 6: 68,745,556 (GRCm39) G114D probably benign Het
Inpp4b G A 8: 82,768,524 (GRCm39) E678K probably damaging Het
Kifc3 G T 8: 95,836,422 (GRCm39) P113Q possibly damaging Het
Lgi4 T A 7: 30,760,049 (GRCm39) probably null Het
Map1s A G 8: 71,365,163 (GRCm39) N107D probably damaging Het
Meiob G T 17: 25,037,302 (GRCm39) C60F probably benign Het
Nedd4l G T 18: 65,022,126 (GRCm39) probably null Het
Omp A G 7: 97,794,253 (GRCm39) F125L probably damaging Het
Or1ad6 T C 11: 50,860,024 (GRCm39) Y60H probably damaging Het
Or51h1 G A 7: 102,308,275 (GRCm39) M82I probably damaging Het
Or5a1 C T 19: 12,097,308 (GRCm39) C244Y probably damaging Het
Pcdha3 T C 18: 37,080,914 (GRCm39) V552A probably damaging Het
Plek T C 11: 16,945,276 (GRCm39) D18G possibly damaging Het
Ppip5k2 T C 1: 97,675,276 (GRCm39) T376A probably damaging Het
Prkdc CAAA CAAAA 16: 15,653,022 (GRCm39) 3833 probably null Het
Rabgap1 T C 2: 37,432,692 (GRCm39) probably null Het
Rtn1 T A 12: 72,270,173 (GRCm39) I113F probably damaging Het
Ssu2 T A 6: 112,364,950 (GRCm39) D4V probably benign Het
St6galnac2 T C 11: 116,568,374 (GRCm39) H363R probably damaging Het
Stk19 T C 17: 35,055,456 (GRCm39) S60G possibly damaging Het
Suco G A 1: 161,679,907 (GRCm39) T332I probably damaging Het
Trbv20 T A 6: 41,165,892 (GRCm39) Y106N probably damaging Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Vmn1r128 G A 7: 21,083,745 (GRCm39) V150I probably benign Het
Vmn2r54 A T 7: 12,350,013 (GRCm39) V523E possibly damaging Het
Vmn2r61 A T 7: 41,916,080 (GRCm39) E231V probably benign Het
Xkr9 A G 1: 13,771,603 (GRCm39) D373G probably benign Het
Zfp592 G C 7: 80,691,271 (GRCm39) S1150T possibly damaging Het
Other mutations in Bbs9
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2655:Bbs9 UTSW 9 22,415,348 (GRCm39) missense probably damaging 1.00
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
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'- AGCCTGATATTTCCACTGGC -3'
(R):5'- ACTGTGATGATCTAAGCCAACCC -3'

Sequencing Primer
(F):5'- CCTGATATTTCCACTGGCTTGTAAAG -3'
(R):5'- ACCAAAGAAGCCAGTAATTTCTTC -3'
Posted On 2021-01-18