Incidental Mutation 'IGL00791:Bbs7'
ID 9216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs7
Ensembl Gene ENSMUSG00000037325
Gene Name Bardet-Biedl syndrome 7
Synonyms 8430406N16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00791
Quality Score
Status
Chromosome 3
Chromosomal Location 36627291-36667626 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 36629436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 674 (*674W)
Ref Sequence ENSEMBL: ENSMUSP00000103790 (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 benign
Transcript: ENSMUST00000040148
SMART Domains Protein: ENSMUSP00000047273
Gene: ENSMUSG00000037325

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
coiled coil region 330 365 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000108155
AA Change: *674W
SMART Domains Protein: ENSMUSP00000103790
Gene: ENSMUSG00000037325
AA Change: *674W

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
coiled coil region 330 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108156
SMART Domains Protein: ENSMUSP00000103791
Gene: ENSMUSG00000037325

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
Coding Region Coverage
Validation Efficiency
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap2 A T 12: 21,289,649 (GRCm39) M519L possibly damaging Het
Ceacam13 A G 7: 17,747,278 (GRCm39) T244A possibly damaging Het
Cln8 T A 8: 14,944,689 (GRCm39) M1K probably null Het
Cnot9 T C 1: 74,561,533 (GRCm39) V126A probably benign Het
Enpep T C 3: 129,125,731 (GRCm39) T134A possibly damaging Het
Fastkd5 C A 2: 130,458,297 (GRCm39) A98S probably benign Het
Gsdmc A T 15: 63,676,284 (GRCm39) I53N possibly damaging Het
Hexd A G 11: 121,111,986 (GRCm39) S427G probably benign Het
Lrrk2 T G 15: 91,664,044 (GRCm39) L1927R probably damaging Het
Mia2 A G 12: 59,155,085 (GRCm39) E267G possibly damaging Het
Plec A G 15: 76,057,137 (GRCm39) S4132P probably damaging Het
Rtn3 A G 19: 7,412,434 (GRCm39) L780P probably damaging Het
Serpinb9c A T 13: 33,335,867 (GRCm39) V195E probably damaging Het
Slit2 T C 5: 48,461,374 (GRCm39) Y1474H possibly damaging Het
Taf15 A G 11: 83,379,749 (GRCm39) probably null Het
Tbc1d17 A G 7: 44,494,737 (GRCm39) S194P probably benign Het
Tbc1d2b T C 9: 90,109,481 (GRCm39) S332G probably benign Het
Tmpo A T 10: 90,998,420 (GRCm39) S456T possibly damaging Het
Tubgcp2 A G 7: 139,581,411 (GRCm39) L608P probably damaging Het
Zfp39 T A 11: 58,783,885 (GRCm39) probably benign Het
Zfp935 A C 13: 62,602,278 (GRCm39) N307K probably benign Het
Other mutations in Bbs7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06