Mutagenetix > Incidental Mutation

Incidental Mutation 'R7021:Mkks'

545601

Institutional Source

Beutler Lab

Gene Symbol

Mkks

Ensembl Gene

ENSMUSG00000027274

Gene Name

McKusick-Kaufman syndrome

Synonyms

Bbs6, 1300013E18Rik

MMRRC Submission

045122-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R7021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136715700-136733309 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 136718007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028730] [ENSMUST00000110089]

AlphaFold

Q9JI70

Predicted Effect

probably null
Transcript: ENSMUST00000028730

SMART Domains

Protein: ENSMUSP00000028730
Gene: ENSMUSG00000027274

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	29	570	2.5e-109	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110089

SMART Domains

Protein: ENSMUSP00000105716
Gene: ENSMUSG00000027274

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	29	570	2.3e-90	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,442,062 (GRCm39)	L63R	probably damaging	Het
Abcb5	C	T	12: 118,895,660 (GRCm39)	V379I	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ahsa1	T	C	12: 87,318,154 (GRCm39)	S37P	possibly damaging	Het
Arnt2	A	T	7: 83,993,150 (GRCm39)	L130H	probably damaging	Het
Atp8b5	T	A	4: 43,355,618 (GRCm39)	F533I	probably damaging	Het
Best1	A	G	19: 9,964,143 (GRCm39)	V439A	probably benign	Het
Bicc1	A	G	10: 70,796,978 (GRCm39)	V127A	probably damaging	Het
Brd7	T	C	8: 89,073,632 (GRCm39)	T253A	probably benign	Het
Btd	A	G	14: 31,389,788 (GRCm39)	D503G	probably benign	Het
Ccdc80	A	G	16: 44,924,804 (GRCm39)	E646G	probably damaging	Het
Ccl25	A	G	8: 4,399,641 (GRCm39)		probably benign	Het
Ccnf	C	A	17: 24,461,205 (GRCm39)	W150L	probably damaging	Het
Cdk11b	A	T	4: 155,726,024 (GRCm39)		probably benign	Het
Cfap73	T	C	5: 120,768,149 (GRCm39)	E203G	probably benign	Het
Cmya5	T	C	13: 93,230,063 (GRCm39)	E1675G	possibly damaging	Het
Copg1	T	A	6: 87,871,087 (GRCm39)	Y268N	possibly damaging	Het
Csnk2a1	T	A	2: 152,102,732 (GRCm39)	H126Q	probably damaging	Het
Ctbs	G	A	3: 146,160,703 (GRCm39)	G90D	probably damaging	Het
Ctnna2	T	C	6: 77,613,888 (GRCm39)	Y221C	probably damaging	Het
Cypt12	C	T	3: 18,002,635 (GRCm39)	R3C	unknown	Het
D630003M21Rik	A	T	2: 158,058,670 (GRCm39)	M410K	possibly damaging	Het
Dnah9	A	T	11: 65,872,057 (GRCm39)	N2724K	probably benign	Het
Dok3	T	C	13: 55,672,097 (GRCm39)	T194A	probably benign	Het
Edem3	T	G	1: 151,631,423 (GRCm39)	S36A	probably benign	Het
Eed	C	T	7: 89,629,727 (GRCm39)	E3K	possibly damaging	Het
Efcab2	A	G	1: 178,308,925 (GRCm39)	I143V	probably benign	Het
Ensa	A	T	3: 95,534,359 (GRCm39)		probably null	Het
Galnt16	A	T	12: 80,626,826 (GRCm39)	E219V	probably damaging	Het
Gfra3	C	A	18: 34,823,933 (GRCm39)	R347L	probably benign	Het
Gm2042	T	A	12: 87,927,009 (GRCm39)	I442K	probably damaging	Het
Gpld1	A	T	13: 25,168,691 (GRCm39)	D735V	probably damaging	Het
Hspg2	T	C	4: 137,269,580 (GRCm39)	S2253P	possibly damaging	Het
Kit	T	C	5: 75,781,627 (GRCm39)	I352T	probably benign	Het
Klra6	A	T	6: 129,995,821 (GRCm39)	V179E	possibly damaging	Het
Lctl	T	A	9: 64,040,075 (GRCm39)		probably null	Het
Lman1	C	A	18: 66,124,714 (GRCm39)	V342L	probably benign	Het
Lrrn2	T	C	1: 132,866,522 (GRCm39)	L529P	probably damaging	Het
Mab21l2	A	G	3: 86,454,793 (GRCm39)	I69T	probably benign	Het
Mapkapk5	G	T	5: 121,665,274 (GRCm39)	A327E	probably benign	Het
Mex3b	G	T	7: 82,519,080 (GRCm39)	R465L	possibly damaging	Het
Mgat3	A	G	15: 80,096,655 (GRCm39)	N494S	probably damaging	Het
Mgat4c	A	G	10: 102,224,289 (GRCm39)	R168G	possibly damaging	Het
Muc16	G	T	9: 18,466,215 (GRCm39)	H7368N	unknown	Het
Muc16	T	C	9: 18,462,127 (GRCm39)		probably null	Het
Nbeal1	G	A	1: 60,300,745 (GRCm39)		probably null	Het
Notch2	T	C	3: 98,042,762 (GRCm39)	S1376P	probably benign	Het
Obox5	A	G	7: 15,491,681 (GRCm39)		probably null	Het
Or10j5	T	C	1: 172,784,494 (GRCm39)	I44T	probably benign	Het
Or6c8b	A	T	10: 128,882,899 (GRCm39)	I11N	probably damaging	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pitrm1	T	A	13: 6,628,593 (GRCm39)	V962E	probably damaging	Het
Pkd2l1	T	C	19: 44,142,647 (GRCm39)	Q465R	probably damaging	Het
Pla1a	A	G	16: 38,221,244 (GRCm39)	I372T	probably damaging	Het
Prmt5	A	C	14: 54,752,845 (GRCm39)	F122C	probably damaging	Het
Prrc2b	T	A	2: 32,111,498 (GRCm39)	S1905T	probably damaging	Het
Ptprf	T	G	4: 118,081,101 (GRCm39)	K1163N	probably benign	Het
Rab3ip	A	G	10: 116,775,283 (GRCm39)	V25A	probably damaging	Het
Raf1	T	C	6: 115,597,300 (GRCm39)		probably null	Het
Rnf180	T	C	13: 105,407,429 (GRCm39)	E40G	probably benign	Het
Rpl6	T	A	5: 121,346,972 (GRCm39)	M289K	probably benign	Het
Slc25a32	A	G	15: 38,963,321 (GRCm39)	F167L	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc4a4	T	A	5: 89,188,205 (GRCm39)		probably null	Het
Sppl2a	A	G	2: 126,769,663 (GRCm39)		probably null	Het
Tbr1	T	A	2: 61,637,688 (GRCm39)	D82E	probably benign	Het
Tbx10	A	T	19: 4,048,961 (GRCm39)	T291S	probably benign	Het
Tlr1	T	A	5: 65,083,056 (GRCm39)	H507L	possibly damaging	Het
Trim37	A	C	11: 87,058,335 (GRCm39)	T338P	probably benign	Het
Trpv5	T	C	6: 41,630,204 (GRCm39)	T629A	probably benign	Het
Ttc14	T	A	3: 33,857,646 (GRCm39)	I249N	probably damaging	Het
Uhrf1	A	G	17: 56,627,450 (GRCm39)	T661A	probably benign	Het
Vmn2r65	A	G	7: 84,596,587 (GRCm39)	I156T	probably benign	Het
Vwde	T	C	6: 13,186,905 (GRCm39)	N861D	probably damaging	Het
Zan	A	G	5: 137,422,213 (GRCm39)	C2802R	unknown	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
R6449:Mkks	UTSW	2	136,716,206 (GRCm39)	missense	probably damaging	0.98
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'- GTCAGCTTCAACATGCCTTAC -3'
(R):5'- CTGGCTCTGAGTTCACAGTC -3'

Sequencing Primer
(F):5'- TGCCTTACATAGACAATGCTCAAAG -3'
(R):5'- GCTCTGAGTTCACAGTCTAAGATGC -3'

Posted On

2019-05-13