Incidental Mutation 'R4282:Bbs7'
ID 322932
Institutional Source Beutler Lab
Gene Symbol Bbs7
Ensembl Gene ENSMUSG00000037325
Gene Name Bardet-Biedl syndrome 7
Synonyms 8430406N16Rik
MMRRC Submission 041650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4282 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 36627291-36667626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36627720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 689 (V689A)
Ref Sequence ENSEMBL: ENSMUSP00000103791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029270] [ENSMUST00000040148] [ENSMUST00000108155] [ENSMUST00000108156] [ENSMUST00000147380] [ENSMUST00000196316]
AlphaFold Q8K2G4
Predicted Effect probably benign
Transcript: ENSMUST00000029270
SMART Domains Protein: ENSMUSP00000029270
Gene: ENSMUSG00000027715

DomainStartEndE-ValueType
Pfam:Cyclin_N2 22 157 7.2e-50 PFAM
CYCLIN 206 290 1.07e-28 SMART
Cyclin_C 299 417 4.09e-31 SMART
CYCLIN 303 386 1.02e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000040148
AA Change: V689A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000047273
Gene: ENSMUSG00000037325
AA Change: V689A

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
coiled coil region 330 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108155
SMART Domains Protein: ENSMUSP00000103790
Gene: ENSMUSG00000037325

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
coiled coil region 330 365 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108156
AA Change: V689A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103791
Gene: ENSMUSG00000037325
AA Change: V689A

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
coiled coil region 330 365 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145309
Predicted Effect probably benign
Transcript: ENSMUST00000147380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199136
Predicted Effect probably benign
Transcript: ENSMUST00000196316
SMART Domains Protein: ENSMUSP00000142946
Gene: ENSMUSG00000027715

DomainStartEndE-ValueType
CYCLIN 69 153 6.6e-31 SMART
Cyclin_C 162 280 2e-35 SMART
CYCLIN 166 249 6.1e-14 SMART
Meta Mutation Damage Score 0.0813 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial preweaning lethality, retinal degeneration, obesity, ventriculomegaly, abnormal brain ependyma motile cilium morphology, and male infertility characterized by abnormal sperm flagellar axoneme structures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A C 11: 114,089,970 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,518,034 (GRCm39) D758E possibly damaging Het
Adam28 A G 14: 68,885,155 (GRCm39) V65A possibly damaging Het
Adgra2 T A 8: 27,609,272 (GRCm39) M616K possibly damaging Het
Aldh3b2 A G 19: 4,027,636 (GRCm39) D59G probably benign Het
Ankrd28 A G 14: 31,467,182 (GRCm39) V260A possibly damaging Het
Cacna1e A G 1: 154,302,296 (GRCm39) F1653S probably benign Het
Cd55b T C 1: 130,344,596 (GRCm39) D213G probably damaging Het
Colgalt2 G A 1: 152,344,282 (GRCm39) V115M probably damaging Het
Ddx60 T C 8: 62,447,427 (GRCm39) V1138A probably damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Dus2 C T 8: 106,775,286 (GRCm39) A271V probably benign Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fancg T C 4: 43,003,830 (GRCm39) D533G probably damaging Het
Frem3 T C 8: 81,340,770 (GRCm39) V1021A probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hspb6 T C 7: 30,252,889 (GRCm39) S44P possibly damaging Het
Jsrp1 T C 10: 80,646,190 (GRCm39) I50V probably benign Het
Kansl1 T C 11: 104,269,515 (GRCm39) N476S probably benign Het
Kcnq2 T C 2: 180,722,946 (GRCm39) D810G probably damaging Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Maml2 C A 9: 13,531,406 (GRCm39) L207I possibly damaging Het
Myo3a A T 2: 22,345,089 (GRCm39) E508D probably benign Het
Nav1 T A 1: 135,385,651 (GRCm39) probably benign Het
Ndrg3 A T 2: 156,790,214 (GRCm39) C90S possibly damaging Het
Orc1 A G 4: 108,463,471 (GRCm39) S663G probably benign Het
Pcdhb14 T A 18: 37,583,195 (GRCm39) L767H probably damaging Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Por C A 5: 135,744,815 (GRCm39) T26K possibly damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Qsox1 T A 1: 155,662,671 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,506,465 (GRCm39) V129D probably benign Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Rxfp2 T G 5: 149,993,735 (GRCm39) V585G possibly damaging Het
Sftpd G A 14: 40,894,537 (GRCm39) T294I probably benign Het
Sh3gl1 A G 17: 56,343,456 (GRCm39) S2P probably damaging Het
Slc38a10 A T 11: 120,020,090 (GRCm39) F321I probably damaging Het
Slc4a10 T A 2: 62,074,687 (GRCm39) probably null Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Slit1 T C 19: 41,602,856 (GRCm39) E985G probably benign Het
Smurf1 C T 5: 144,819,403 (GRCm39) E575K probably damaging Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tmem182 T C 1: 40,877,530 (GRCm39) I135T probably damaging Het
Tmem67 T C 4: 12,073,922 (GRCm39) Y298C probably damaging Het
Trappc9 A G 15: 72,462,641 (GRCm39) C1026R probably damaging Het
Troap A G 15: 98,976,713 (GRCm39) D279G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r25 A T 6: 123,800,606 (GRCm39) C579S probably damaging Het
Zbtb18 A G 1: 177,275,045 (GRCm39) D126G probably damaging Het
Other mutations in Bbs7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Bbs7 APN 3 36,629,436 (GRCm39) makesense probably null
IGL01533:Bbs7 APN 3 36,664,384 (GRCm39) missense possibly damaging 0.66
IGL01559:Bbs7 APN 3 36,648,659 (GRCm39) missense probably damaging 1.00
IGL01793:Bbs7 APN 3 36,659,831 (GRCm39) critical splice donor site probably null
IGL01867:Bbs7 APN 3 36,627,696 (GRCm39) missense probably benign 0.21
IGL01955:Bbs7 APN 3 36,664,471 (GRCm39) missense probably benign 0.16
IGL02207:Bbs7 APN 3 36,658,639 (GRCm39) missense probably benign 0.10
IGL02212:Bbs7 APN 3 36,648,558 (GRCm39) missense probably benign
IGL02451:Bbs7 APN 3 36,664,741 (GRCm39) missense possibly damaging 0.94
IGL03267:Bbs7 APN 3 36,627,654 (GRCm39) missense probably damaging 1.00
R0010:Bbs7 UTSW 3 36,661,866 (GRCm39) splice site probably null
R0243:Bbs7 UTSW 3 36,659,883 (GRCm39) missense probably benign
R0326:Bbs7 UTSW 3 36,646,525 (GRCm39) missense possibly damaging 0.46
R0372:Bbs7 UTSW 3 36,656,981 (GRCm39) missense probably benign 0.00
R0398:Bbs7 UTSW 3 36,644,866 (GRCm39) missense probably benign
R0453:Bbs7 UTSW 3 36,661,818 (GRCm39) missense possibly damaging 0.79
R0485:Bbs7 UTSW 3 36,657,022 (GRCm39) missense probably damaging 1.00
R0592:Bbs7 UTSW 3 36,664,446 (GRCm39) missense probably benign 0.05
R0619:Bbs7 UTSW 3 36,661,725 (GRCm39) missense probably benign 0.02
R0720:Bbs7 UTSW 3 36,646,572 (GRCm39) missense probably damaging 1.00
R0963:Bbs7 UTSW 3 36,667,412 (GRCm39) missense probably benign 0.22
R1177:Bbs7 UTSW 3 36,664,329 (GRCm39) splice site probably null
R1242:Bbs7 UTSW 3 36,632,576 (GRCm39) missense probably damaging 1.00
R1336:Bbs7 UTSW 3 36,658,593 (GRCm39) missense probably benign
R1401:Bbs7 UTSW 3 36,627,706 (GRCm39) missense probably benign 0.09
R1564:Bbs7 UTSW 3 36,629,944 (GRCm39) missense probably damaging 0.99
R2417:Bbs7 UTSW 3 36,646,546 (GRCm39) missense probably damaging 1.00
R3736:Bbs7 UTSW 3 36,661,819 (GRCm39) missense possibly damaging 0.87
R5412:Bbs7 UTSW 3 36,653,522 (GRCm39) missense probably benign
R5444:Bbs7 UTSW 3 36,666,199 (GRCm39) missense possibly damaging 0.50
R5932:Bbs7 UTSW 3 36,636,847 (GRCm39) missense probably benign 0.01
R6030:Bbs7 UTSW 3 36,657,060 (GRCm39) missense probably damaging 0.98
R6030:Bbs7 UTSW 3 36,657,060 (GRCm39) missense probably damaging 0.98
R6148:Bbs7 UTSW 3 36,667,415 (GRCm39) missense probably damaging 1.00
R6173:Bbs7 UTSW 3 36,646,523 (GRCm39) nonsense probably null
R6897:Bbs7 UTSW 3 36,652,460 (GRCm39) missense probably benign 0.07
R6912:Bbs7 UTSW 3 36,659,853 (GRCm39) missense probably benign 0.00
R7224:Bbs7 UTSW 3 36,659,877 (GRCm39) missense possibly damaging 0.48
R7268:Bbs7 UTSW 3 36,658,575 (GRCm39) missense probably benign
R7456:Bbs7 UTSW 3 36,648,527 (GRCm39) missense probably damaging 0.99
R7959:Bbs7 UTSW 3 36,657,085 (GRCm39) missense probably damaging 1.00
R8013:Bbs7 UTSW 3 36,648,536 (GRCm39) missense probably damaging 1.00
R8014:Bbs7 UTSW 3 36,648,536 (GRCm39) missense probably damaging 1.00
R8182:Bbs7 UTSW 3 36,664,372 (GRCm39) missense probably damaging 1.00
R8750:Bbs7 UTSW 3 36,661,744 (GRCm39) missense possibly damaging 0.95
R9040:Bbs7 UTSW 3 36,629,987 (GRCm39) missense probably benign 0.00
R9045:Bbs7 UTSW 3 36,666,184 (GRCm39) missense probably benign 0.00
R9729:Bbs7 UTSW 3 36,661,818 (GRCm39) missense probably damaging 1.00
R9798:Bbs7 UTSW 3 36,652,439 (GRCm39) missense probably benign 0.01
X0003:Bbs7 UTSW 3 36,629,994 (GRCm39) nonsense probably null
Z1177:Bbs7 UTSW 3 36,657,069 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCCGTCACTCTTCTGATTAC -3'
(R):5'- AAAGTTGCTTCAAACCTTCTCCAC -3'

Sequencing Primer
(F):5'- CACTCTTCTGATTACATGTGGGACG -3'
(R):5'- TGCTTCAAACCTTCTCCACATACAC -3'
Posted On 2015-06-20