Incidental Mutation 'R0372:Bbs7'
ID 30517
Institutional Source Beutler Lab
Gene Symbol Bbs7
Ensembl Gene ENSMUSG00000037325
Gene Name Bardet-Biedl syndrome 7
Synonyms 8430406N16Rik
MMRRC Submission 038578-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0372 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 36627291-36667626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36656981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 282 (D282E)
Ref Sequence ENSEMBL: ENSMUSP00000103791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040148] [ENSMUST00000108155] [ENSMUST00000108156]
AlphaFold Q8K2G4
Predicted Effect probably benign
Transcript: ENSMUST00000040148
AA Change: D282E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047273
Gene: ENSMUSG00000037325
AA Change: D282E

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: D282E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103790
Gene: ENSMUSG00000037325
AA Change: D282E

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: D282E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103791
Gene: ENSMUSG00000037325
AA Change: D282E

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
coiled coil region 330 365 N/A INTRINSIC
Meta Mutation Damage Score 0.0581 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.6%
Validation Efficiency 97% (70/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik T A 14: 64,210,931 (GRCm39) Q99L probably damaging Het
Abca2 A G 2: 25,327,365 (GRCm39) Y641C probably damaging Het
Abhd10 A G 16: 45,557,254 (GRCm39) probably null Het
Acan G T 7: 78,750,349 (GRCm39) A1707S probably benign Het
Ankrd61 T A 5: 143,827,993 (GRCm39) R284S probably benign Het
Ap3d1 T C 10: 80,559,401 (GRCm39) K258E probably damaging Het
Arl6ip6 T G 2: 53,092,933 (GRCm39) F153V probably damaging Het
Atp2c2 C A 8: 120,484,180 (GRCm39) F930L probably benign Het
Avl9 T C 6: 56,703,309 (GRCm39) probably null Het
Axin2 A G 11: 108,814,159 (GRCm39) S16G probably damaging Het
Axin2 T A 11: 108,814,936 (GRCm39) probably benign Het
Ccny A T 18: 9,345,201 (GRCm39) V191D probably damaging Het
Cdk11b A G 4: 155,725,957 (GRCm39) probably benign Het
Chd1 T A 17: 17,607,552 (GRCm39) C367S probably benign Het
Cnnm4 G A 1: 36,537,091 (GRCm39) V472M probably damaging Het
Cpb2 T A 14: 75,479,817 (GRCm39) I8N probably benign Het
Dusp11 A G 6: 85,935,712 (GRCm39) probably benign Het
Elmo1 T C 13: 20,756,629 (GRCm39) probably null Het
Gbf1 C T 19: 46,274,143 (GRCm39) P1726S probably benign Het
Hal A G 10: 93,343,415 (GRCm39) probably benign Het
Hlcs T C 16: 93,939,766 (GRCm39) I671V possibly damaging Het
Ifnab A G 4: 88,609,071 (GRCm39) S132P probably benign Het
Ing5 T C 1: 93,740,142 (GRCm39) I70T probably damaging Het
Ints1 T C 5: 139,758,193 (GRCm39) N228S probably damaging Het
Itgb6 T A 2: 60,458,185 (GRCm39) I523F probably benign Het
Kat2b T C 17: 53,945,565 (GRCm39) F328S possibly damaging Het
Kbtbd3 A T 9: 4,316,950 (GRCm39) I34F possibly damaging Het
Klhl11 A T 11: 100,354,348 (GRCm39) I491N probably damaging Het
Lmo7 A T 14: 102,155,489 (GRCm39) probably benign Het
Lrp1 G T 10: 127,428,005 (GRCm39) P523T probably damaging Het
Lrp1b T A 2: 40,620,810 (GRCm39) D3556V probably benign Het
Lrp2 T A 2: 69,365,387 (GRCm39) H262L probably benign Het
Lrrc27 T A 7: 138,806,103 (GRCm39) I256K probably benign Het
Lrrc47 G A 4: 154,104,089 (GRCm39) R523K probably benign Het
Lrrc71 A T 3: 87,653,084 (GRCm39) S111T probably benign Het
Map3k7cl T C 16: 87,378,100 (GRCm39) V72A probably damaging Het
Mphosph10 G T 7: 64,038,603 (GRCm39) probably benign Het
Nlrp4a T C 7: 26,148,657 (GRCm39) probably benign Het
Nsd2 A T 5: 34,048,895 (GRCm39) M1140L probably damaging Het
Nt5dc3 T C 10: 86,661,155 (GRCm39) M440T possibly damaging Het
Oog4 A T 4: 143,164,259 (GRCm39) L424Q probably damaging Het
Or5h17 T C 16: 58,820,450 (GRCm39) V134A probably benign Het
Orc5 A T 5: 22,738,782 (GRCm39) Y160N possibly damaging Het
Papola T C 12: 105,785,097 (GRCm39) F410L probably benign Het
Pcdh10 A G 3: 45,333,932 (GRCm39) E82G probably damaging Het
Pcdh20 T C 14: 88,706,439 (GRCm39) Y287C probably damaging Het
Pld1 T A 3: 28,142,787 (GRCm39) probably null Het
Plekha8 G A 6: 54,593,743 (GRCm39) probably null Het
Ppbp C T 5: 90,917,202 (GRCm39) T93M possibly damaging Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Rab3gap2 C T 1: 184,994,891 (GRCm39) T810M possibly damaging Het
Rassf9 A G 10: 102,381,872 (GRCm39) N418S possibly damaging Het
Rnf20 C G 4: 49,650,176 (GRCm39) R582G possibly damaging Het
Serpine2 T C 1: 79,799,147 (GRCm39) I36V probably damaging Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Slc24a2 A T 4: 87,145,529 (GRCm39) V175E probably damaging Het
Sned1 T C 1: 93,213,673 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 GCC G 2: 121,889,928 (GRCm39) probably null Het
Tecrl C T 5: 83,442,506 (GRCm39) C189Y probably damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Thnsl2 T C 6: 71,116,774 (GRCm39) Y126C probably damaging Het
Tll2 T C 19: 41,171,752 (GRCm39) probably null Het
Ubqln4 C T 3: 88,463,276 (GRCm39) S147L probably benign Het
Ugt2b5 A T 5: 87,288,117 (GRCm39) C17S probably benign Het
Vps41 A T 13: 19,026,417 (GRCm39) Q505L probably benign Het
Zfp386 T C 12: 116,018,436 (GRCm39) M35T possibly damaging Het
Zfp777 T C 6: 48,021,410 (GRCm39) M71V possibly damaging Het
Zfp938 A T 10: 82,063,662 (GRCm39) L34Q probably damaging Het
Zfp974 A T 7: 27,620,120 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGTTTACCAGCGAGCAATGTCCTG -3'
(R):5'- GGGAAGCACCCAATTATGTGCAAAG -3'

Sequencing Primer
(F):5'- actcctcatccttctgcctc -3'
(R):5'- aaatttttGATGACTGTGGTATGAAG -3'
Posted On 2013-04-24