Incidental Mutation 'R4902:Mkks'
ID 377855
Institutional Source Beutler Lab
Gene Symbol Mkks
Ensembl Gene ENSMUSG00000027274
Gene Name McKusick-Kaufman syndrome
Synonyms Bbs6, 1300013E18Rik
MMRRC Submission 042505-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R4902 (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 136718094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 396 (V396A)
Ref Sequence ENSEMBL: ENSMUSP00000105716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028730] [ENSMUST00000110089]
AlphaFold Q9JI70
Predicted Effect probably benign
Transcript: ENSMUST00000028730
AA Change: V396A

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028730
Gene: ENSMUSG00000027274
AA Change: V396A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 29 570 2.5e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110089
AA Change: V396A

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105716
Gene: ENSMUSG00000027274
AA Change: V396A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 29 570 2.3e-90 PFAM
Meta Mutation Damage Score 0.2214 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (84/84)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930488N24Rik T C 17: 14,326,408 (GRCm39) noncoding transcript Het
Adamdec1 T C 14: 68,809,215 (GRCm39) N249S probably damaging Het
Asxl1 T A 2: 153,241,751 (GRCm39) V767E probably benign Het
Atp6v1f T C 6: 29,470,271 (GRCm39) probably benign Het
Brix1 T C 15: 10,483,378 (GRCm39) probably null Het
Cap2 T C 13: 46,684,501 (GRCm39) V2A probably damaging Het
Chrnb2 A G 3: 89,668,248 (GRCm39) C356R probably damaging Het
Chtf8 C T 8: 107,612,424 (GRCm39) G172R probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dact2 T A 17: 14,416,991 (GRCm39) K403M possibly damaging Het
Dhx40 A C 11: 86,662,036 (GRCm39) L674V possibly damaging Het
Dlc1 A G 8: 37,044,285 (GRCm39) V1230A probably damaging Het
Dnah7b T A 1: 46,329,935 (GRCm39) S3260T probably benign Het
Eef1a2 T A 2: 180,789,881 (GRCm39) D428V probably benign Het
Ehd1 T C 19: 6,344,273 (GRCm39) F178L possibly damaging Het
Eif4a3l1 T G 6: 136,306,262 (GRCm39) V241G probably benign Het
F2 A T 2: 91,465,316 (GRCm39) probably benign Het
Fam186a T C 15: 99,844,723 (GRCm39) D507G unknown Het
Fbxo11 G A 17: 88,372,702 (GRCm39) probably benign Het
Fry A T 5: 150,419,168 (GRCm39) M2871L probably benign Het
Gabrr2 A G 4: 33,095,512 (GRCm39) D442G probably damaging Het
Gemin5 A G 11: 58,055,103 (GRCm39) I214T probably benign Het
Gfra2 A G 14: 71,204,455 (GRCm39) N175S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Jhy C T 9: 40,808,821 (GRCm39) probably benign Het
Krtap5-5 A T 7: 141,783,156 (GRCm39) C165S unknown Het
Lce1k T A 3: 92,714,134 (GRCm39) T17S unknown Het
Map3k1 C T 13: 111,909,146 (GRCm39) R268Q probably damaging Het
Med13l T A 5: 118,883,195 (GRCm39) H1351Q probably damaging Het
Met T C 6: 17,546,995 (GRCm39) V876A probably damaging Het
Mical2 T C 7: 111,936,107 (GRCm39) S903P probably benign Het
Mvk T C 5: 114,594,060 (GRCm39) V305A probably benign Het
Myo5a A G 9: 75,081,360 (GRCm39) T982A probably benign Het
N4bp1 A G 8: 87,588,311 (GRCm39) V209A probably benign Het
Nfkbib G T 7: 28,461,173 (GRCm39) S158* probably null Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Ogfr A G 2: 180,235,518 (GRCm39) probably benign Het
Or10a3 G A 7: 108,480,624 (GRCm39) T63I probably benign Het
Or2t43 G A 11: 58,457,451 (GRCm39) S240F possibly damaging Het
Or8s8 T C 15: 98,354,796 (GRCm39) S202P probably damaging Het
Pcdhga8 T A 18: 37,948,978 (GRCm39) D131E probably damaging Het
Plch1 A G 3: 63,648,264 (GRCm39) probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Ppp1r12a T C 10: 108,066,451 (GRCm39) V214A probably damaging Het
Prr5l A G 2: 101,628,027 (GRCm39) probably benign Het
Prss35 A G 9: 86,638,175 (GRCm39) Q315R probably damaging Het
Psg29 G T 7: 16,945,837 (GRCm39) *469L probably null Het
Psmd4 A G 3: 94,943,170 (GRCm39) V78A probably damaging Het
Rad9a C A 19: 4,251,552 (GRCm39) probably benign Het
Rfx7 G T 9: 72,524,573 (GRCm39) V588F probably benign Het
Rnase13 A C 14: 52,160,052 (GRCm39) I29S probably benign Het
Steap2 T C 5: 5,725,866 (GRCm39) N386S possibly damaging Het
Ston1 A G 17: 88,952,680 (GRCm39) E719G probably damaging Het
Stx4a A G 7: 127,441,934 (GRCm39) probably null Het
Tekt2 A G 4: 126,217,263 (GRCm39) S212P possibly damaging Het
Tex19.2 A T 11: 121,007,782 (GRCm39) L222Q probably damaging Het
Tmem50a A G 4: 134,637,017 (GRCm39) I38T probably damaging Het
Ubr2 A G 17: 47,296,922 (GRCm39) V286A possibly damaging Het
Ugt2b35 T C 5: 87,151,159 (GRCm39) M255T possibly damaging Het
Vmn2r17 T A 5: 109,601,220 (GRCm39) F839L probably benign Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wtip A T 7: 33,818,437 (GRCm39) probably null Het
Yeats2 G A 16: 20,026,418 (GRCm39) G765S probably benign Het
Zbtb3 T C 19: 8,781,331 (GRCm39) S315P probably benign Het
Zdhhc8 T C 16: 18,045,030 (GRCm39) M259V probably benign Het
Zfp120 A G 2: 149,961,440 (GRCm39) probably benign Het
Zfp236 A T 18: 82,627,543 (GRCm39) I1552N 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
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
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'- AGGTTCCTAGAGTATTATGATTTGGCC -3'
(R):5'- TCACTTTGTAGAACCCACATAGTG -3'

Sequencing Primer
(F):5'- TTGGCCATTGTCTCACAAAAC -3'
(R):5'- GACCTCTACGCATGTGTCCTGG -3'
Posted On 2016-04-15