Incidental Mutation 'R0688:Bbs9'
ID 61235
Institutional Source Beutler Lab
Gene Symbol Bbs9
Ensembl Gene ENSMUSG00000035919
Gene Name Bardet-Biedl syndrome 9
Synonyms E130103I17Rik, EST 3159894
MMRRC Submission 038873-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.827) question?
Stock # R0688 (G1)
Quality Score 164
Status Not validated
Chromosome 9
Chromosomal Location 22387011-22799576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22479015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 153 (C153S)
Ref Sequence ENSEMBL: ENSMUSP00000116629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039798] [ENSMUST00000147405] [ENSMUST00000147712] [ENSMUST00000150395]
AlphaFold Q811G0
Predicted Effect probably damaging
Transcript: ENSMUST00000039798
AA Change: C153S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043042
Gene: ENSMUSG00000035919
AA Change: C153S

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: C153S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120927
Gene: ENSMUSG00000035919
AA Change: C153S

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: C153S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122058
Gene: ENSMUSG00000035919
AA Change: C153S

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: C153S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116629
Gene: ENSMUSG00000035919
AA Change: C153S

DomainStartEndE-ValueType
Pfam:PHTB1_N 1 421 8e-168 PFAM
Pfam:PHTB1_C 439 814 8.3e-163 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152719
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 T G 9: 104,001,299 (GRCm39) V615G probably damaging Het
Apaf1 T G 10: 90,897,567 (GRCm39) E305D possibly damaging Het
Apol10b A G 15: 77,469,419 (GRCm39) S253P probably damaging Het
Bicra C T 7: 15,723,247 (GRCm39) G90D probably damaging Het
Clca4a A C 3: 144,667,735 (GRCm39) L412R probably damaging Het
Cul3 A T 1: 80,249,281 (GRCm39) D597E possibly damaging Het
Cxcr5 A G 9: 44,424,964 (GRCm39) probably null Het
Dnah10 T C 5: 124,824,782 (GRCm39) I646T possibly damaging Het
Focad T A 4: 88,192,450 (GRCm39) V593D unknown Het
Fsip2 T A 2: 82,812,683 (GRCm39) S3001T probably benign Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Gdf9 T A 11: 53,327,467 (GRCm39) L141Q probably damaging Het
Gpr180 A G 14: 118,385,596 (GRCm39) D136G probably benign Het
Hsd3b9 T C 3: 98,363,710 (GRCm39) E45G probably benign Het
Itga2 G T 13: 114,976,090 (GRCm39) A1094E probably benign Het
Ly75 C T 2: 60,146,565 (GRCm39) A1238T probably benign Het
Macc1 T C 12: 119,410,738 (GRCm39) V502A probably damaging Het
Mroh4 T C 15: 74,478,527 (GRCm39) K923E probably damaging Het
Msh3 G A 13: 92,487,939 (GRCm39) P93S possibly damaging Het
Myo18a A G 11: 77,714,966 (GRCm39) D474G probably damaging Het
Npat T A 9: 53,481,522 (GRCm39) Y1077N probably benign Het
Or4c109 A T 2: 88,817,939 (GRCm39) S202R probably damaging Het
Or6c69 T G 10: 129,747,752 (GRCm39) T132P probably damaging Het
Or6k14 A C 1: 173,927,630 (GRCm39) H202P probably damaging Het
Or8u8 A T 2: 86,011,949 (GRCm39) probably null Het
Paqr5 T G 9: 61,880,076 (GRCm39) T59P probably benign Het
Phyhipl C T 10: 70,395,085 (GRCm39) G329R probably damaging Het
Pomgnt1 T C 4: 116,013,086 (GRCm39) Y430H probably damaging Het
Pramel21 T C 4: 143,343,927 (GRCm39) F409S probably benign Het
Prkd3 A T 17: 79,264,662 (GRCm39) M651K probably damaging Het
Puf60 A T 15: 75,942,623 (GRCm39) M440K probably damaging Het
Recql4 A G 15: 76,594,009 (GRCm39) probably null Het
Sgk1 A C 10: 21,874,059 (GRCm39) M320L probably benign Het
Slc27a4 T C 2: 29,702,627 (GRCm39) F509S probably damaging Het
Sorbs1 T C 19: 40,351,706 (GRCm39) T235A probably damaging Het
Srrm3 A G 5: 135,898,130 (GRCm39) probably benign Het
Tex15 C T 8: 34,063,528 (GRCm39) T986I probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Zswim4 T C 8: 84,955,517 (GRCm39) M301V 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
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
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'- GCATTCAGAGCTTGCTTCATGCTG -3'
(R):5'- TCCACTTGTCTGCAAGAAGACACAG -3'

Sequencing Primer
(F):5'- AACTTGGGACATGCGTACCTG -3'
(R):5'- CACAGTTATGAAGGAATCCGTGC -3'
Posted On 2013-07-30