Incidental Mutation 'R6912:Bbs7'
ID 539065
Institutional Source Beutler Lab
Gene Symbol Bbs7
Ensembl Gene ENSMUSG00000037325
Gene Name Bardet-Biedl syndrome 7
Synonyms 8430406N16Rik
MMRRC Submission 045004-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6912 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 36627291-36667626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 36659853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 194 (A194E)
Ref Sequence ENSEMBL: ENSMUSP00000103791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040148] [ENSMUST00000108155] [ENSMUST00000108156] [ENSMUST00000142333]
AlphaFold Q8K2G4
Predicted Effect probably benign
Transcript: ENSMUST00000040148
AA Change: A194E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047273
Gene: ENSMUSG00000037325
AA Change: A194E

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
coiled coil region 330 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108155
AA Change: A194E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103790
Gene: ENSMUSG00000037325
AA Change: A194E

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
coiled coil region 330 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108156
AA Change: A194E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103791
Gene: ENSMUSG00000037325
AA Change: A194E

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
coiled coil region 330 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142333
SMART Domains Protein: ENSMUSP00000118961
Gene: ENSMUSG00000037325

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 100% (79/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G A 7: 43,150,571 (GRCm39) T67I possibly damaging Het
Abca5 A T 11: 110,197,106 (GRCm39) M524K probably benign Het
Aco2 G A 15: 81,779,597 (GRCm39) V134I probably benign Het
Acsf2 C T 11: 94,461,206 (GRCm39) M323I probably benign Het
Acvr1 T C 2: 58,337,585 (GRCm39) D499G probably benign Het
Armc5 G A 7: 127,839,597 (GRCm39) C305Y probably damaging Het
Astl T C 2: 127,198,306 (GRCm39) I286T probably benign Het
Atp8a2 G A 14: 60,249,859 (GRCm39) S544L probably benign Het
Brca2 A G 5: 150,465,207 (GRCm39) D1657G probably damaging Het
Cfap46 G A 7: 139,219,616 (GRCm39) S1283L probably benign Het
Creld2 T C 15: 88,704,200 (GRCm39) S64P probably damaging Het
Crtc1 T C 8: 70,850,961 (GRCm39) E217G probably damaging Het
Cyp2d26 C T 15: 82,675,320 (GRCm39) V345M probably benign Het
Cyp2j11 T C 4: 96,183,108 (GRCm39) M487V probably benign Het
Dnah12 T C 14: 26,600,036 (GRCm39) I3692T probably damaging Het
Dnah14 A T 1: 181,577,748 (GRCm39) T3022S possibly damaging Het
Dtnb A T 12: 3,698,221 (GRCm39) probably null Het
Erf T C 7: 24,944,003 (GRCm39) T443A possibly damaging Het
Ermp1 T A 19: 29,594,011 (GRCm39) I720F probably benign Het
Fam83b T A 9: 76,398,214 (GRCm39) E963V probably damaging Het
Fat1 T A 8: 45,504,060 (GRCm39) S4463T probably benign Het
Fbxw27 T A 9: 109,617,148 (GRCm39) K118* probably null Het
Fcgbp A T 7: 27,789,129 (GRCm39) Y565F probably benign Het
Garre1 A G 7: 33,945,093 (GRCm39) S384P probably benign Het
Gm128 A T 3: 95,147,740 (GRCm39) S185T probably benign Het
Gm6309 C T 5: 146,105,640 (GRCm39) E175K probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gprin2 T C 14: 33,916,597 (GRCm39) Y391C probably damaging Het
Hexa T C 9: 59,447,221 (GRCm39) L72P probably damaging Het
Il31ra T A 13: 112,685,998 (GRCm39) D124V probably damaging Het
Kdm2a C T 19: 4,372,529 (GRCm39) A939T probably benign Het
Kif16b A G 2: 142,542,019 (GRCm39) probably benign Het
Kndc1 A T 7: 139,490,194 (GRCm39) D232V probably damaging Het
Lrrc37a T G 11: 103,348,369 (GRCm39) R2775S unknown Het
Luc7l3 C T 11: 94,200,462 (GRCm39) R52H probably damaging Het
Mapk15 A T 15: 75,865,747 (GRCm39) R13S probably damaging Het
Mdga2 G T 12: 66,552,889 (GRCm39) Q187K probably benign Het
Mfsd2b G A 12: 4,920,611 (GRCm39) Q69* probably null Het
Mlph A T 1: 90,873,342 (GRCm39) D551V probably damaging Het
Mup5 A T 4: 61,752,806 (GRCm39) F72L probably benign Het
Narf T C 11: 121,129,287 (GRCm39) S24P probably benign Het
Ncapg2 A G 12: 116,390,202 (GRCm39) I384V probably benign Het
Neo1 T C 9: 58,824,335 (GRCm39) T698A probably benign Het
Nox3 A G 17: 3,736,198 (GRCm39) S143P probably damaging Het
Nrros T C 16: 31,981,057 (GRCm39) R24G probably null Het
Or10ak9 T A 4: 118,726,335 (GRCm39) M119K probably damaging Het
Or6b1 T C 6: 42,815,736 (GRCm39) V307A probably benign Het
Pde9a T C 17: 31,685,386 (GRCm39) S347P possibly damaging Het
Pitpnm3 T C 11: 71,961,222 (GRCm39) D315G probably benign Het
Plaat5 A G 19: 7,616,830 (GRCm39) probably benign Het
Plekha6 C T 1: 133,200,273 (GRCm39) A284V probably benign Het
Plekhg2 A G 7: 28,059,684 (GRCm39) V1215A probably benign Het
Ppif C A 14: 25,698,711 (GRCm39) A144E probably damaging Het
Ppp1r10 T C 17: 36,240,453 (GRCm39) V581A possibly damaging Het
Prr12 A G 7: 44,698,269 (GRCm39) probably benign Het
Rfx6 T C 10: 51,599,949 (GRCm39) V565A probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Saxo2 A G 7: 82,284,402 (GRCm39) V152A possibly damaging Het
Sdk2 T C 11: 113,793,946 (GRCm39) D86G probably benign Het
Shroom3 A T 5: 93,090,876 (GRCm39) M1128L probably benign Het
Smok2a C A 17: 13,444,543 (GRCm39) T40K probably benign Het
Tatdn1 C T 15: 58,793,118 (GRCm39) probably null Het
Tbc1d2 C A 4: 46,649,712 (GRCm39) G108V probably damaging Het
Tbck T C 3: 132,392,703 (GRCm39) I48T possibly damaging Het
Tm7sf3 A G 6: 146,527,601 (GRCm39) F75S possibly damaging Het
Tmx4 T C 2: 134,440,719 (GRCm39) D245G probably benign Het
Trim68 A T 7: 102,333,675 (GRCm39) D2E probably damaging Het
Trps1 T A 15: 50,685,694 (GRCm39) Q157L possibly damaging Het
Ttc22 A G 4: 106,495,800 (GRCm39) T385A probably benign Het
Ubap2l A T 3: 89,946,155 (GRCm39) F150I possibly damaging Het
Ube2u C T 4: 100,389,352 (GRCm39) R105W probably damaging Het
Ubr4 G A 4: 139,185,545 (GRCm39) probably null Het
Unc5b A G 10: 60,666,871 (GRCm39) L25P probably benign Het
Usp38 A G 8: 81,719,958 (GRCm39) S424P probably damaging Het
Vmn1r222 T A 13: 23,416,374 (GRCm39) S280C probably benign Het
Vmn1r59 A T 7: 5,457,599 (GRCm39) F54I probably benign Het
Vmn2r-ps117 T A 17: 19,047,464 (GRCm39) C536S probably damaging Het
Zkscan2 A C 7: 123,099,196 (GRCm39) probably benign 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
R4282:Bbs7 UTSW 3 36,627,720 (GRCm39) missense probably damaging 1.00
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
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'- GCGTATTCCCTACAGGTGAC -3'
(R):5'- TCAACACTCCTCTGTCTAGGG -3'

Sequencing Primer
(F):5'- TCCCTACAGGTGACTTCAAGATGAG -3'
(R):5'- CCTCTGTCTAGGGGTTCATTAAG -3'
Posted On 2018-11-06