Incidental Mutation 'R1765:Mkks'
ID 194258
Institutional Source Beutler Lab
Gene Symbol Mkks
Ensembl Gene ENSMUSG00000027274
Gene Name McKusick-Kaufman syndrome
Synonyms Bbs6, 1300013E18Rik
MMRRC Submission 039797-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R1765 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 136715700-136733309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136722287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 290 (L290P)
Ref Sequence ENSEMBL: ENSMUSP00000105716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028730] [ENSMUST00000110089] [ENSMUST00000144275] [ENSMUST00000227806]
AlphaFold Q9JI70
Predicted Effect probably damaging
Transcript: ENSMUST00000028730
AA Change: L290P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028730
Gene: ENSMUSG00000027274
AA Change: L290P

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 29 570 2.5e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110089
AA Change: L290P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105716
Gene: ENSMUSG00000027274
AA Change: L290P

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 29 570 2.3e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144275
Predicted Effect probably benign
Transcript: ENSMUST00000227806
Meta Mutation Damage Score 0.9666 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.8%
Validation Efficiency 99% (90/91)
MGI Phenotype FUNCTION: This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Alternatively spliced transcripts encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice display partial embryonic lethality, retinal degeneration, obesity, increased food intake, hypoactivity, increased blood pressure, male infertility with the absence of flagella on spermatozoa, decreased aggression, and impaired olfaction but, do not display limb deformities. [provided by MGI curators]
Allele List at MGI

All alleles(11) : Targeted, knock-out(1) Gene trapped(10)

Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik G T 15: 59,887,194 (GRCm39) C415* probably null Het
Adamtsl2 A C 2: 26,992,842 (GRCm39) I652L probably benign Het
Adgrl4 T C 3: 151,248,872 (GRCm39) I720T probably damaging Het
Agrn A T 4: 156,261,284 (GRCm39) C604* probably null Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
B3galt2 C A 1: 143,522,207 (GRCm39) N114K probably benign Het
Bud23 A T 5: 135,084,897 (GRCm39) M59K probably benign Het
C3 C T 17: 57,531,401 (GRCm39) probably null Het
C9orf72 A C 4: 35,197,098 (GRCm39) H322Q probably damaging Het
Cc2d2a A T 5: 43,871,873 (GRCm39) D903V probably damaging Het
Ccdc9b G A 2: 118,591,128 (GRCm39) A135V probably benign Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdan1 A C 2: 120,551,230 (GRCm39) L1097V probably damaging Het
Cdc26 T A 4: 62,313,155 (GRCm39) N62I probably benign Het
Cdc27 G T 11: 104,425,607 (GRCm39) Q70K probably damaging Het
Cenpq A T 17: 41,235,178 (GRCm39) probably null Het
Cep295 T C 9: 15,239,200 (GRCm39) S1858G probably damaging Het
Clasp1 T C 1: 118,433,261 (GRCm39) S247P probably damaging Het
Cyp2w1 C T 5: 139,339,623 (GRCm39) T71I probably damaging Het
Dcaf1 T C 9: 106,741,793 (GRCm39) F1336S probably damaging Het
Dennd6b G A 15: 89,074,506 (GRCm39) Q104* probably null Het
Dglucy T A 12: 100,816,361 (GRCm39) probably null Het
Dnajc9 A G 14: 20,438,158 (GRCm39) V148A possibly damaging Het
Dnmbp T A 19: 43,890,579 (GRCm39) D396V possibly damaging Het
Dock10 T A 1: 80,583,540 (GRCm39) I221F probably damaging Het
Dscam T C 16: 96,486,579 (GRCm39) N1032S probably benign Het
Dsg4 A C 18: 20,589,888 (GRCm39) Y346S probably benign Het
Dync1i2 A G 2: 71,079,759 (GRCm39) H417R probably benign Het
Dysf G A 6: 84,167,884 (GRCm39) probably null Het
Elovl1 A G 4: 118,287,707 (GRCm39) M1V probably null Het
Eva1c A G 16: 90,701,135 (GRCm39) S257G probably benign Het
Eya2 A T 2: 165,566,723 (GRCm39) D258V probably damaging Het
Fam193a A G 5: 34,593,841 (GRCm39) T113A probably damaging Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Fstl5 G T 3: 76,500,783 (GRCm39) R404L possibly damaging Het
Glud1 T C 14: 34,047,541 (GRCm39) probably benign Het
Gm10770 A C 2: 150,021,258 (GRCm39) H86Q probably damaging Het
Gzme C T 14: 56,355,871 (GRCm39) G147D probably damaging Het
Herc3 T C 6: 58,865,645 (GRCm39) V746A probably damaging Het
Hmga1 A G 17: 27,778,592 (GRCm39) E17G probably damaging Het
Kdelr2 A T 5: 143,406,567 (GRCm39) K206* probably null Het
Kng2 A G 16: 22,806,993 (GRCm39) probably null Het
Lrrc41 G A 4: 115,946,248 (GRCm39) R321H possibly damaging Het
Mapkapk2 A T 1: 130,986,498 (GRCm39) M1K probably null Het
Me2 A G 18: 73,924,929 (GRCm39) F263L probably damaging Het
Mmp12 T A 9: 7,354,772 (GRCm39) I255N probably damaging Het
Mogs A G 6: 83,093,784 (GRCm39) D251G probably benign Het
Morf4l1 T A 9: 89,984,401 (GRCm39) Y65F possibly damaging Het
Neb T C 2: 52,094,676 (GRCm39) D5169G probably damaging Het
Nin A G 12: 70,089,665 (GRCm39) L1250P probably damaging Het
Nomo1 G T 7: 45,715,717 (GRCm39) G721V possibly damaging Het
Notch2 T G 3: 98,029,242 (GRCm39) C1002G probably damaging Het
Npat T C 9: 53,481,522 (GRCm39) Y1077H probably benign Het
Or1e1c T A 11: 73,266,170 (GRCm39) N198K probably damaging Het
Or4g17 G A 2: 111,209,491 (GRCm39) V49I probably benign Het
Or4p21 A T 2: 88,276,367 (GRCm39) F305Y probably damaging Het
Or5h25 A G 16: 58,930,118 (GRCm39) L285P probably damaging Het
Or8c16 T C 9: 38,130,548 (GRCm39) I143T probably benign Het
Otop2 A T 11: 115,215,504 (GRCm39) I142F probably benign Het
Pacsin3 A G 2: 91,093,460 (GRCm39) E279G possibly damaging Het
Pafah2 A G 4: 134,140,758 (GRCm39) T243A probably benign Het
Pcdhgc5 A G 18: 37,954,913 (GRCm39) H729R probably benign Het
Plcd1 T C 9: 118,900,874 (GRCm39) D756G probably damaging Het
Prune2 A G 19: 17,102,962 (GRCm39) E2707G probably damaging Het
Rit2 C T 18: 31,449,951 (GRCm39) G16S probably damaging Het
Sec24c A G 14: 20,738,922 (GRCm39) probably benign Het
Skint5 G T 4: 113,434,858 (GRCm39) T1037K unknown Het
Slc28a2 T A 2: 122,290,876 (GRCm39) probably null Het
Slc41a2 G A 10: 83,137,130 (GRCm39) A259V probably damaging Het
Slc6a17 T A 3: 107,380,895 (GRCm39) I537F possibly damaging Het
Slco1a7 T C 6: 141,700,084 (GRCm39) probably benign Het
Smchd1 A T 17: 71,707,196 (GRCm39) probably benign Het
Smg1 T C 7: 117,738,938 (GRCm39) I3489V probably benign Het
Sytl3 T C 17: 6,967,082 (GRCm39) L142P probably damaging Het
Tektl1 A T 10: 78,584,502 (GRCm39) M340K probably benign Het
Tfr2 C T 5: 137,581,707 (GRCm39) T598I probably damaging Het
Tmc2 A G 2: 130,102,145 (GRCm39) Q770R probably benign Het
Tnc C T 4: 63,932,231 (GRCm39) V728M probably damaging Het
Trim68 A T 7: 102,329,597 (GRCm39) M177K possibly damaging Het
Trmt11 T C 10: 30,435,184 (GRCm39) D325G probably benign Het
Ube3a C T 7: 58,935,862 (GRCm39) T582I probably damaging Het
Usp13 G A 3: 32,969,919 (GRCm39) E682K probably benign Het
Usp9y A G Y: 1,384,454 (GRCm39) V688A possibly damaging Het
Uts2r A G 11: 121,052,095 (GRCm39) T320A possibly damaging Het
Vmn1r34 A T 6: 66,614,480 (GRCm39) M86K probably damaging Het
Vsig10 A G 5: 117,456,880 (GRCm39) probably benign Het
Zbtb41 T A 1: 139,368,132 (GRCm39) C607S probably benign Het
Other mutations in Mkks
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03058:Mkks APN 2 136,718,090 (GRCm39) missense probably damaging 1.00
mckusick UTSW 2 136,722,876 (GRCm39) missense probably damaging 0.97
D4043:Mkks UTSW 2 136,716,530 (GRCm39) missense probably benign 0.01
R0183:Mkks UTSW 2 136,722,606 (GRCm39) missense probably benign 0.01
R0193:Mkks UTSW 2 136,719,526 (GRCm39) splice site probably null
R1394:Mkks UTSW 2 136,722,882 (GRCm39) missense probably damaging 1.00
R4484:Mkks UTSW 2 136,722,494 (GRCm39) missense probably benign 0.44
R4678:Mkks UTSW 2 136,722,201 (GRCm39) missense probably benign 0.00
R4791:Mkks UTSW 2 136,718,082 (GRCm39) missense probably benign 0.03
R4825:Mkks UTSW 2 136,722,575 (GRCm39) missense probably benign 0.05
R4902:Mkks UTSW 2 136,718,094 (GRCm39) missense probably benign 0.39
R5709:Mkks UTSW 2 136,722,656 (GRCm39) missense probably benign 0.04
R6449:Mkks UTSW 2 136,716,206 (GRCm39) missense probably damaging 0.98
R7021:Mkks UTSW 2 136,718,007 (GRCm39) critical splice donor site probably null
R7914:Mkks UTSW 2 136,722,876 (GRCm39) missense probably damaging 0.97
R8397:Mkks UTSW 2 136,722,923 (GRCm39) missense possibly damaging 0.79
R9743:Mkks UTSW 2 136,722,992 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCTCTCTGCTCAGAAAGAGTGATGC -3'
(R):5'- CTGAAGCCTGTAGTTGTCGAATCCC -3'

Sequencing Primer
(F):5'- CATTAACTTTAATGGGCAAAAGCCAG -3'
(R):5'- TGTTCCCTTAAAGGGCCAAAG -3'
Posted On 2014-05-23