Incidental Mutation 'R6449:Mkks'
| ID |
519280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mkks
|
| Ensembl Gene |
ENSMUSG00000027274 |
| Gene Name |
McKusick-Kaufman syndrome |
| Synonyms |
Bbs6, 1300013E18Rik |
| MMRRC Submission |
044585-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.399)
|
| Stock # |
R6449 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
136715700-136733309 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 136716206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 565
(V565F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028730]
[ENSMUST00000110089]
|
| AlphaFold |
Q9JI70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028730
AA Change: V565F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028730
Gene: ENSMUSG00000027274
AA Change: V565F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
29 |
570 |
2.5e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110089
AA Change: V565F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105716
Gene: ENSMUSG00000027274
AA Change: V565F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
29 |
570 |
2.3e-90 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,652,972 (GRCm39) |
D137V |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,868,116 (GRCm39) |
T410A |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,030,754 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,906,596 (GRCm39) |
V563E |
probably damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,811 (GRCm39) |
L295P |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,812,554 (GRCm39) |
T210A |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,960,486 (GRCm39) |
A408T |
unknown |
Het |
| Csnk1g2 |
A |
G |
10: 80,475,906 (GRCm39) |
K415R |
probably damaging |
Het |
| Cyp2c29 |
G |
T |
19: 39,279,311 (GRCm39) |
A103S |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dsg1b |
A |
T |
18: 20,527,498 (GRCm39) |
I210F |
possibly damaging |
Het |
| Fhod1 |
T |
A |
8: 106,056,869 (GRCm39) |
D1002V |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,010 (GRCm39) |
V431I |
probably benign |
Het |
| Gtpbp4 |
A |
T |
13: 9,040,773 (GRCm39) |
C174* |
probably null |
Het |
| Il2ra |
A |
G |
2: 11,685,173 (GRCm39) |
K170E |
probably benign |
Het |
| Itch |
T |
C |
2: 155,005,315 (GRCm39) |
|
probably benign |
Het |
| Jazf1 |
A |
C |
6: 52,754,640 (GRCm39) |
D145E |
probably damaging |
Het |
| Kank2 |
G |
T |
9: 21,691,858 (GRCm39) |
A469E |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,902,269 (GRCm39) |
I125V |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Krtap27-1 |
C |
T |
16: 88,467,941 (GRCm39) |
S201N |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,228,758 (GRCm39) |
S326P |
probably damaging |
Het |
| Ntaq1 |
T |
G |
15: 58,013,994 (GRCm39) |
|
probably null |
Het |
| Or5c1 |
A |
G |
2: 37,221,837 (GRCm39) |
D26G |
possibly damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,889 (GRCm39) |
I61N |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,493 (GRCm39) |
S229P |
possibly damaging |
Het |
| Pacsin3 |
A |
T |
2: 91,090,514 (GRCm39) |
|
probably null |
Het |
| Pdcd7 |
A |
G |
9: 65,264,057 (GRCm39) |
E434G |
probably damaging |
Het |
| Plekhb2 |
T |
C |
1: 34,903,564 (GRCm39) |
F102L |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,458 (GRCm39) |
D191G |
probably benign |
Het |
| Psmd3 |
A |
G |
11: 98,576,466 (GRCm39) |
T123A |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,541,444 (GRCm39) |
V361M |
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,990,869 (GRCm39) |
D414G |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,933,252 (GRCm39) |
H1162Y |
probably benign |
Het |
| Sema4f |
A |
G |
6: 82,894,851 (GRCm39) |
V448A |
probably benign |
Het |
| Tcf12 |
A |
T |
9: 71,775,550 (GRCm39) |
M400K |
probably damaging |
Het |
| Tcl1b2 |
G |
T |
12: 105,119,261 (GRCm39) |
E50* |
probably null |
Het |
| Thada |
A |
C |
17: 84,736,601 (GRCm39) |
D893E |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,880,587 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
T |
C |
12: 86,071,050 (GRCm39) |
S1308P |
probably benign |
Het |
| Ubtfl1 |
T |
A |
9: 18,320,925 (GRCm39) |
I151N |
possibly damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,157 (GRCm39) |
F332I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,307,488 (GRCm39) |
D238G |
probably damaging |
Het |
| Zfp639 |
A |
G |
3: 32,573,810 (GRCm39) |
H145R |
possibly damaging |
Het |
|
| Other mutations in Mkks |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GCAGCATCAAGGCAATTTCC -3'
(R):5'- AGCTCAGCTGGTCTGTCTTAAG -3'
Sequencing Primer
(F):5'- CCTCCAAACTTAAATGTGTGTGAGG -3'
(R):5'- CTCAGCTGGTCTGTCTTAAGAAGTAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation