Incidental Mutation 'R8397:Mkks'
ID 647639
Institutional Source Beutler Lab
Gene Symbol Mkks
Ensembl Gene ENSMUSG00000027274
Gene Name McKusick-Kaufman syndrome
Synonyms Bbs6, 1300013E18Rik
MMRRC Submission 067760-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R8397 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 136715700-136733309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136722923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 78 (T78M)
Ref Sequence ENSEMBL: ENSMUSP00000028730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028730] [ENSMUST00000110089] [ENSMUST00000144275] [ENSMUST00000227806] [ENSMUST00000231720]
AlphaFold Q9JI70
Predicted Effect possibly damaging
Transcript: ENSMUST00000028730
AA Change: T78M

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028730
Gene: ENSMUSG00000027274
AA Change: T78M

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 29 570 2.5e-109 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110089
AA Change: T78M

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105716
Gene: ENSMUSG00000027274
AA Change: T78M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,767,141 (GRCm39) T499A probably benign Het
Ahsa1 G T 12: 87,320,451 (GRCm39) E311* probably null Het
Apol9a C T 15: 77,288,813 (GRCm39) V185I probably benign Het
Arhgap27 T A 11: 103,224,073 (GRCm39) D580V probably damaging Het
Arpp21 A C 9: 111,978,440 (GRCm39) S298A possibly damaging Het
B4galnt2 T A 11: 95,756,989 (GRCm39) T481S probably benign Het
Cct8 G A 16: 87,290,651 (GRCm39) R59C possibly damaging Het
Cdhr5 C T 7: 140,851,801 (GRCm39) G501E possibly damaging Het
Chka G A 19: 3,902,414 (GRCm39) probably null Het
Cit C A 5: 116,024,856 (GRCm39) N366K probably benign Het
Dennd4a A T 9: 64,796,391 (GRCm39) M806L probably benign Het
Dhx9 T A 1: 153,344,657 (GRCm39) H510L probably damaging Het
Esyt3 C T 9: 99,209,966 (GRCm39) V305I probably benign Het
Fbxo40 A T 16: 36,790,985 (GRCm39) C42S probably damaging Het
Fbxw26 T C 9: 109,561,715 (GRCm39) M160V probably damaging Het
Frem2 A G 3: 53,560,562 (GRCm39) V1315A probably benign Het
Gbp9 T A 5: 105,231,464 (GRCm39) N374I possibly damaging Het
Gm11992 T G 11: 9,011,305 (GRCm39) S249A probably damaging Het
Gm14418 T A 2: 177,079,086 (GRCm39) Q303L probably damaging Het
Hectd4 C A 5: 121,397,957 (GRCm39) P295Q probably damaging Het
Kdm2b T C 5: 123,018,579 (GRCm39) N954D probably benign Het
Klf15 C T 6: 90,443,778 (GRCm39) H118Y probably damaging Het
Lrit2 G T 14: 36,791,034 (GRCm39) A238S probably damaging Het
Man2c1 A C 9: 57,042,783 (GRCm39) M218L probably benign Het
Map3k1 T A 13: 111,892,138 (GRCm39) H1039L probably damaging Het
Map3k9 A G 12: 81,769,136 (GRCm39) S971P probably benign Het
Map4k3 C T 17: 80,971,446 (GRCm39) V74I probably damaging Het
Mars1 A T 10: 127,136,368 (GRCm39) S486T possibly damaging Het
Mettl13 A T 1: 162,371,887 (GRCm39) S327R possibly damaging Het
Mst1 C T 9: 107,958,698 (GRCm39) probably benign Het
Myh1 G T 11: 67,112,465 (GRCm39) A1811S probably damaging Het
Myh13 A G 11: 67,241,113 (GRCm39) H830R possibly damaging Het
Nek4 A G 14: 30,692,505 (GRCm39) D443G possibly damaging Het
Nf1 T C 11: 79,438,518 (GRCm39) L137P probably damaging Het
Nipsnap3b T C 4: 53,012,049 (GRCm39) probably null Het
Nos1ap G T 1: 170,155,194 (GRCm39) P220T unknown Het
Nrxn3 T A 12: 90,298,583 (GRCm39) I368N probably benign Het
Nup133 T A 8: 124,649,156 (GRCm39) Q562L probably benign Het
Nup214 T A 2: 31,880,266 (GRCm39) L342Q probably damaging Het
Nxn A G 11: 76,163,232 (GRCm39) S264P probably damaging Het
Or11g24 G T 14: 50,662,137 (GRCm39) D54Y probably damaging Het
Otud4 T C 8: 80,395,927 (GRCm39) S567P probably benign Het
Patl2 A C 2: 121,955,754 (GRCm39) S261A probably damaging Het
Pcdh15 C T 10: 74,126,865 (GRCm39) P315S probably damaging Het
Pcm1 T A 8: 41,736,616 (GRCm39) H827Q probably damaging Het
Pirb G A 7: 3,719,045 (GRCm39) L615F probably damaging Het
Ppp1r12c T A 7: 4,492,768 (GRCm39) H236L probably damaging Het
Prkd1 C T 12: 50,439,675 (GRCm39) G384E probably benign Het
Rmnd1 C A 10: 4,377,278 (GRCm39) E134* probably null Het
Rusc2 T A 4: 43,424,206 (GRCm39) H1090Q possibly damaging Het
Sema5b A C 16: 35,471,691 (GRCm39) Y428S possibly damaging Het
Slc2a8 T A 2: 32,866,010 (GRCm39) I301L probably benign Het
Slc38a11 C T 2: 65,160,635 (GRCm39) V320M probably damaging Het
Slc4a5 G T 6: 83,266,308 (GRCm39) probably null Het
Slc7a6 T C 8: 106,920,165 (GRCm39) I320T probably damaging Het
Slc8a3 A G 12: 81,246,542 (GRCm39) I837T probably benign Het
Spag1 C T 15: 36,197,895 (GRCm39) R286* probably null Het
Tlr3 A T 8: 45,851,896 (GRCm39) F334I possibly damaging Het
Unc13b A G 4: 43,217,290 (GRCm39) I530V probably benign Het
Vmn2r68 T C 7: 84,886,722 (GRCm39) D64G possibly damaging Het
Zfp157 T A 5: 138,454,518 (GRCm39) Y239N probably 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
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
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
R9743:Mkks UTSW 2 136,722,992 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGGATTCGACAACTACAGGC -3'
(R):5'- AAGCCATCGTTGTGTAAAACTG -3'

Sequencing Primer
(F):5'- ACTACAGGCTTCAGACTTGAG -3'
(R):5'- CGTTGTGTAAAACTGAACCATTGAC -3'
Posted On 2020-09-02