Incidental Mutation 'R0183:Mkks'
ID 23860
Institutional Source Beutler Lab
Gene Symbol Mkks
Ensembl Gene ENSMUSG00000027274
Gene Name McKusick-Kaufman syndrome
Synonyms Bbs6, 1300013E18Rik
MMRRC Submission 038448-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R0183 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 136715700-136733309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136722606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 184 (L184F)
Ref Sequence ENSEMBL: ENSMUSP00000105716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028730] [ENSMUST00000110089] [ENSMUST00000144275] [ENSMUST00000227806] [ENSMUST00000231720]
AlphaFold Q9JI70
Predicted Effect probably benign
Transcript: ENSMUST00000028730
AA Change: L184F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028730
Gene: ENSMUSG00000027274
AA Change: L184F

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 29 570 2.5e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110089
AA Change: L184F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000105716
Gene: ENSMUSG00000027274
AA Change: L184F

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 29 570 2.3e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144275
Predicted Effect probably benign
Transcript: ENSMUST00000227806
Predicted Effect probably benign
Transcript: ENSMUST00000231720
Meta Mutation Damage Score 0.2760 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 84% (42/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C T 5: 77,034,082 (GRCm39) D490N probably benign Het
Aatf A T 11: 84,401,251 (GRCm39) probably null Het
Amer3 T A 1: 34,626,838 (GRCm39) I359K probably damaging Het
Appl1 A T 14: 26,684,811 (GRCm39) D79E probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Baz1a T A 12: 54,958,172 (GRCm39) E1026D probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Card14 C T 11: 119,217,524 (GRCm39) R386C probably damaging Het
Cenpb T C 2: 131,020,373 (GRCm39) probably benign Het
Clcn4 G A 7: 7,298,090 (GRCm39) Q40* probably null Het
Clec16a T C 16: 10,377,886 (GRCm39) Y28H probably damaging Het
Cul4a T C 8: 13,183,790 (GRCm39) S393P probably damaging Het
Dcbld2 A G 16: 58,265,722 (GRCm39) D194G possibly damaging Het
Dnah6 C T 6: 73,059,906 (GRCm39) V2841I probably damaging Het
Eaf1 T A 14: 31,217,272 (GRCm39) L16Q probably damaging Het
Eef1e1 C T 13: 38,840,162 (GRCm39) A48T probably damaging Het
Exoc3l C A 8: 106,021,932 (GRCm39) R57L probably damaging Het
Faf1 A G 4: 109,792,807 (GRCm39) N593S probably benign Het
Fosb A G 7: 19,041,310 (GRCm39) I61T probably damaging Het
Fstl5 A C 3: 76,229,579 (GRCm39) I127L possibly damaging Het
Gas2l2 T A 11: 83,319,882 (GRCm39) M125L probably benign Het
Gcnt1 C T 19: 17,306,481 (GRCm39) D415N probably benign Het
Gtpbp4 A G 13: 9,024,997 (GRCm39) M531T probably benign Het
Gucy1b2 T A 14: 62,656,589 (GRCm39) K256M probably damaging Het
Igf2bp2 A T 16: 21,897,480 (GRCm39) Y244* probably null Het
Jkamp T C 12: 72,140,809 (GRCm39) I118T possibly damaging Het
Kalrn A T 16: 33,991,749 (GRCm39) probably null Het
Kcnma1 A T 14: 23,558,120 (GRCm39) D317E probably damaging Het
Lipo2 A T 19: 33,726,951 (GRCm39) probably null Het
Lrig3 T A 10: 125,846,061 (GRCm39) I830K probably damaging Het
Map3k4 A G 17: 12,454,015 (GRCm39) I1429T probably damaging Het
Mmp19 C T 10: 128,634,872 (GRCm39) T424I possibly damaging Het
Mrps23 A G 11: 88,100,980 (GRCm39) E57G probably damaging Het
Myh7 T C 14: 55,216,333 (GRCm39) T1282A probably benign Het
Or2y10 A G 11: 49,455,675 (GRCm39) D309G probably benign Het
Or8k1 T A 2: 86,047,173 (GRCm39) S294C probably damaging Het
Phf19 T C 2: 34,801,214 (GRCm39) N75S probably damaging Het
Pink1 T G 4: 138,041,490 (GRCm39) H477P probably damaging Het
Ppp6r2 G A 15: 89,169,990 (GRCm39) C835Y probably damaging Het
Prkcq T C 2: 11,257,973 (GRCm39) I295T probably damaging Het
Ptpn13 T C 5: 103,664,274 (GRCm39) S421P probably benign Het
Ptpn6 A G 6: 124,705,914 (GRCm39) S77P probably damaging Het
Ptpre G T 7: 135,271,574 (GRCm39) M389I probably benign Het
Ranbp9 T C 13: 43,578,599 (GRCm39) D158G probably damaging Het
Sec14l3 C T 11: 4,025,547 (GRCm39) S357L probably benign Het
Slc1a6 A G 10: 78,627,067 (GRCm39) T135A probably damaging Het
Spef2 A T 15: 9,716,445 (GRCm39) D323E possibly damaging Het
Taf2 T A 15: 54,919,186 (GRCm39) K396N possibly damaging Het
Tcf12 A T 9: 71,824,309 (GRCm39) V94E probably damaging Het
Trim24 T A 6: 37,920,415 (GRCm39) I404N possibly damaging 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
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
R1765:Mkks UTSW 2 136,722,287 (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'- AACGTGGCGCTCACTGAAGAAC -3'
(R):5'- CTGAAGCCTGTAGTTGTCGAATCCC -3'

Sequencing Primer
(F):5'- ACACTTGGTAATGGGCCAC -3'
(R):5'- GCCTGTATGCTCACCAGAAA -3'
Posted On 2013-04-16