Mutagenetix > Incidental Mutation

Incidental Mutation 'R5243:Mks1'

401001

Institutional Source

Beutler Lab

Gene Symbol

Mks1

Ensembl Gene

ENSMUSG00000034121

Gene Name

MKS transition zone complex subunit 1

Synonyms

B8d3, avc6, Meckel syndrome, type 1

MMRRC Submission

042814-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87744041-87754629 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 87747504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038196]

AlphaFold

Q5SW45

Predicted Effect

probably benign
Transcript: ENSMUST00000038196

SMART Domains

Protein: ENSMUSP00000043790
Gene: ENSMUSG00000034121

Domain	Start	End	E-Value	Type
low complexity region	163	170	N/A	INTRINSIC
Pfam:B9-C2	316	496	1.8e-45	PFAM
low complexity region	533	547	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153729

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (62/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for an ENU-induced or targeted allele exhibit polydactyly, heterotaxia, skeletal defects, and kidney cysts along with abnormal lung, kidney, liver, and heart morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,956,543 (GRCm39)		probably null	Het
Aatk	A	G	11: 119,907,594 (GRCm39)	L78P	probably damaging	Het
Acadsb	T	A	7: 131,045,972 (GRCm39)	I412K	probably damaging	Het
Acer3	T	C	7: 97,867,277 (GRCm39)	R246G	possibly damaging	Het
Atp1a3	T	A	7: 24,693,994 (GRCm39)	I387F	probably damaging	Het
Atp6v1b2	A	T	8: 69,556,391 (GRCm39)	M300L	probably benign	Het
Aurkb	T	A	11: 68,936,752 (GRCm39)		probably benign	Het
Card10	C	A	15: 78,664,872 (GRCm39)	G694V	possibly damaging	Het
Ccdc171	A	G	4: 83,522,344 (GRCm39)	N336S	probably damaging	Het
Copg2	T	C	6: 30,750,626 (GRCm39)	T720A	probably benign	Het
Coro2a	A	T	4: 46,545,620 (GRCm39)	W272R	probably damaging	Het
Cpne6	T	A	14: 55,750,204 (GRCm39)	C112S	probably damaging	Het
Ddx21	A	G	10: 62,437,992 (GRCm39)	M1T	probably null	Het
Dohh	A	G	10: 81,223,203 (GRCm39)	R161G	probably benign	Het
Dsc1	A	C	18: 20,232,216 (GRCm39)	V264G	probably damaging	Het
E4f1	A	T	17: 24,666,292 (GRCm39)	C198S	probably damaging	Het
Evpl	T	A	11: 116,113,795 (GRCm39)	E1298D	probably damaging	Het
Grid2ip	A	T	5: 143,363,260 (GRCm39)	I246F	probably damaging	Het
H2-M1	A	G	17: 36,982,193 (GRCm39)	F136S	possibly damaging	Het
Hck	T	C	2: 152,986,412 (GRCm39)	V387A	probably damaging	Het
Hdac1	G	A	4: 129,410,646 (GRCm39)		probably benign	Het
Hydin	A	C	8: 111,232,380 (GRCm39)	Q1633P	possibly damaging	Het
Igkv12-41	A	G	6: 69,835,686 (GRCm39)	I22T	probably damaging	Het
Ints3	CA	CAA	3: 90,308,451 (GRCm39)		probably null	Het
Itpr2	C	G	6: 146,089,044 (GRCm39)	W2188C	probably damaging	Het
Kcnt1	A	G	2: 25,798,086 (GRCm39)	E899G	probably damaging	Het
Lgals8	C	A	13: 12,469,645 (GRCm39)	V12L	probably benign	Het
Lgr6	T	C	1: 135,037,010 (GRCm39)		probably benign	Het
Lrrc8b	T	G	5: 105,628,812 (GRCm39)	I386S	probably damaging	Het
Mon1b	A	G	8: 114,364,553 (GRCm39)	D110G	possibly damaging	Het
Mpdz	G	T	4: 81,225,116 (GRCm39)	A1437E	probably damaging	Het
Nbeal1	T	A	1: 60,309,487 (GRCm39)	N1753K	probably damaging	Het
Nceh1	T	C	3: 27,295,837 (GRCm39)	V366A	probably damaging	Het
Ncor1	A	T	11: 62,229,788 (GRCm39)	D893E	probably damaging	Het
Npc1	T	A	18: 12,331,688 (GRCm39)		probably benign	Het
Or1j15	T	C	2: 36,458,655 (GRCm39)	L15P	probably damaging	Het
Or9i1b	A	G	19: 13,897,025 (GRCm39)	I214V	probably damaging	Het
Podxl2	T	C	6: 88,826,356 (GRCm39)	T317A	probably benign	Het
Prl8a9	T	G	13: 27,746,446 (GRCm39)	Q54P	probably damaging	Het
Prpf31	C	T	7: 3,641,753 (GRCm39)	R351*	probably null	Het
Pspc1	C	T	14: 57,001,648 (GRCm39)	G242D	probably damaging	Het
Rbmxl2	G	C	7: 106,809,044 (GRCm39)	G110R	probably damaging	Het
Rif1	T	A	2: 52,001,836 (GRCm39)	H1763Q	possibly damaging	Het
Rpusd3	T	C	6: 113,395,025 (GRCm39)	T85A	probably benign	Het
Rttn	A	G	18: 89,126,187 (GRCm39)	I1853M	possibly damaging	Het
Sacs	T	A	14: 61,443,406 (GRCm39)	C1817*	probably null	Het
Scrib	A	T	15: 75,937,101 (GRCm39)	V335E	probably benign	Het
Sdk2	A	G	11: 113,715,912 (GRCm39)	L1549P	possibly damaging	Het
Slc25a11	C	T	11: 70,536,924 (GRCm39)	G44S	probably damaging	Het
Slc6a3	A	G	13: 73,719,570 (GRCm39)	Y533C	possibly damaging	Het
Slc7a5	A	G	8: 122,623,274 (GRCm39)	V191A	probably damaging	Het
Son	A	G	16: 91,451,621 (GRCm39)	K123E	probably damaging	Het
Tcstv3	T	A	13: 120,779,125 (GRCm39)	M8K	probably benign	Het
Tie1	A	G	4: 118,339,548 (GRCm39)	V411A	probably damaging	Het
Upk3bl	C	A	5: 136,088,977 (GRCm39)	D1E	possibly damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vmn2r75	T	C	7: 85,813,447 (GRCm39)	N452D	probably damaging	Het
Wnk2	T	A	13: 49,226,054 (GRCm39)	N1043I	possibly damaging	Het
Zfp407	A	T	18: 84,579,216 (GRCm39)	H632Q	probably damaging	Het
Zfp423	T	C	8: 88,500,275 (GRCm39)	K1174R	probably benign	Het

Other mutations in Mks1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01799:Mks1	APN	11	87,747,689 (GRCm39)	missense	probably benign	0.28
IGL02291:Mks1	APN	11	87,750,493 (GRCm39)	unclassified	probably benign
IGL02406:Mks1	APN	11	87,753,611 (GRCm39)	missense	probably benign	0.02
IGL02938:Mks1	APN	11	87,753,478 (GRCm39)	critical splice donor site	probably null
IGL03094:Mks1	APN	11	87,746,291 (GRCm39)	splice site	probably benign
R0389:Mks1	UTSW	11	87,748,754 (GRCm39)	missense	probably benign
R0893:Mks1	UTSW	11	87,747,777 (GRCm39)	splice site	probably benign
R1490:Mks1	UTSW	11	87,753,595 (GRCm39)	missense	probably benign	0.02
R1514:Mks1	UTSW	11	87,751,937 (GRCm39)	missense	probably benign	0.31
R2042:Mks1	UTSW	11	87,747,494 (GRCm39)	splice site	probably benign
R4289:Mks1	UTSW	11	87,747,530 (GRCm39)	intron	probably benign
R4757:Mks1	UTSW	11	87,753,850 (GRCm39)	makesense	probably null
R4868:Mks1	UTSW	11	87,744,549 (GRCm39)	splice site	probably benign
R5708:Mks1	UTSW	11	87,747,665 (GRCm39)	missense	probably benign	0.21
R5848:Mks1	UTSW	11	87,747,696 (GRCm39)	missense	probably benign	0.00
R6289:Mks1	UTSW	11	87,750,485 (GRCm39)	critical splice donor site	probably null
R6320:Mks1	UTSW	11	87,746,325 (GRCm39)	missense	probably benign	0.00
R7205:Mks1	UTSW	11	87,747,428 (GRCm39)	missense	probably benign	0.02
R7642:Mks1	UTSW	11	87,747,666 (GRCm39)	missense	possibly damaging	0.93
R7816:Mks1	UTSW	11	87,751,542 (GRCm39)	missense	probably damaging	1.00
R9027:Mks1	UTSW	11	87,748,041 (GRCm39)	missense	probably damaging	0.99
R9502:Mks1	UTSW	11	87,753,766 (GRCm39)	missense	probably damaging	1.00
Z1177:Mks1	UTSW	11	87,751,549 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTGTTTCTCCCCAATAGC -3'
(R):5'- CGCCATGATGTACATTGTCTG -3'

Sequencing Primer
(F):5'- TAGCTCTGACCACATGCCAGTC -3'
(R):5'- CGCCATGATGTACATTGTCTGAAGAG -3'

Posted On

2016-07-06