Mutagenetix > Incidental Mutation

Incidental Mutation 'R2042:Mks1'

225108

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

040049-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87744041-87754629 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 87747494 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,210,377 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,143,941 (GRCm39)	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,749,439 (GRCm39)	Y176F	probably damaging	Het
Ano6	T	C	15: 95,853,904 (GRCm39)		probably null	Het
Atr	T	C	9: 95,752,075 (GRCm39)	L564S	probably benign	Het
Birc6	C	G	17: 74,916,654 (GRCm39)	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,595,134 (GRCm39)	A148T	probably damaging	Het
Cd53	T	A	3: 106,674,740 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,309,811 (GRCm39)	F1596S	probably damaging	Het
Cep120	A	T	18: 53,868,814 (GRCm39)	F122I	possibly damaging	Het
Ckm	A	T	7: 19,148,082 (GRCm39)	H7L	possibly damaging	Het
Crybg2	T	C	4: 133,814,844 (GRCm39)	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,182,763 (GRCm39)	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,365,533 (GRCm39)	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,057,769 (GRCm39)	S570T	probably damaging	Het
Dmbt1	A	G	7: 130,708,089 (GRCm39)	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,854,632 (GRCm39)	V98A	probably benign	Het
Dtx1	T	G	5: 120,832,541 (GRCm39)	N299T	probably benign	Het
Efr3b	T	A	12: 4,034,627 (GRCm39)	D65V	probably damaging	Het
Eml4	T	C	17: 83,755,607 (GRCm39)	C323R	probably damaging	Het
Eps15	C	T	4: 109,161,964 (GRCm39)	T31I	probably damaging	Het
Fam91a1	A	G	15: 58,298,443 (GRCm39)	I184V	probably benign	Het
Fbxl8	A	T	8: 105,994,856 (GRCm39)	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,561,772 (GRCm39)	T141P	probably damaging	Het
Fhip1b	G	T	7: 105,033,328 (GRCm39)	Y629*	probably null	Het
Glra3	G	A	8: 56,515,494 (GRCm39)	D190N	probably benign	Het
Hspg2	T	C	4: 137,295,677 (GRCm39)	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,199,333 (GRCm39)	R65W	probably damaging	Het
Irs2	A	G	8: 11,057,580 (GRCm39)	I284T	probably damaging	Het
Klhl22	T	C	16: 17,610,284 (GRCm39)		probably benign	Het
Lmcd1	T	A	6: 112,292,851 (GRCm39)	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,511,561 (GRCm39)	K173R	probably benign	Het
Magi1	A	T	6: 93,732,026 (GRCm39)	N209K	probably benign	Het
Mak	A	C	13: 41,202,912 (GRCm39)	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,496,870 (GRCm39)	R87L	probably damaging	Het
Map4k1	T	C	7: 28,683,555 (GRCm39)	L53P	probably damaging	Het
Melk	T	C	4: 44,309,051 (GRCm39)		probably null	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
N4bp2	C	T	5: 65,983,964 (GRCm39)	P1670S	probably damaging	Het
Ncf1	C	G	5: 134,255,494 (GRCm39)	Q132H	probably benign	Het
Nemp1	T	C	10: 127,532,203 (GRCm39)	S370P	possibly damaging	Het
Nt5c3b	T	C	11: 100,327,020 (GRCm39)	H92R	probably benign	Het
Or12j2	T	C	7: 139,915,850 (GRCm39)	L25P	probably damaging	Het
Or4p19	G	A	2: 88,242,546 (GRCm39)	A152V	possibly damaging	Het
P4ha3	T	C	7: 99,949,897 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 81,965,067 (GRCm39)	H411Q	probably damaging	Het
Podxl	A	G	6: 31,500,051 (GRCm39)	V473A	possibly damaging	Het
Prkd2	T	C	7: 16,590,193 (GRCm39)	S530P	possibly damaging	Het
Scin	A	G	12: 40,127,509 (GRCm39)	I427T	possibly damaging	Het
Sgo2b	T	C	8: 64,381,561 (GRCm39)	T424A	probably benign	Het
Slc22a2	T	C	17: 12,818,012 (GRCm39)	I196T	probably benign	Het
Slc47a2	C	A	11: 61,228,908 (GRCm39)	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386 (GRCm38)	V99M	probably damaging	Het
Spata31f3	C	T	4: 42,874,030 (GRCm39)	C46Y	possibly damaging	Het
Sprr2k	T	C	3: 92,340,763 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,039,213 (GRCm39)	M1185I	probably benign	Het
Tent5b	T	C	4: 133,213,924 (GRCm39)	V265A	possibly damaging	Het
Uaca	T	C	9: 60,777,173 (GRCm39)	V518A	probably damaging	Het
Ubr3	C	T	2: 69,808,118 (GRCm39)	Q1200*	probably null	Het
Ufm1	A	G	3: 53,766,702 (GRCm39)		probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp142	G	A	1: 74,609,778 (GRCm39)	T1236I	probably benign	Het
Zfp236	A	G	18: 82,651,234 (GRCm39)	Y845H	probably damaging	Het
Zfp747l1	A	T	7: 126,984,641 (GRCm39)	C154S	possibly damaging	Het
Zfp787	T	C	7: 6,135,763 (GRCm39)	K163E	possibly damaging	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
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
R5243:Mks1	UTSW	11	87,747,504 (GRCm39)	intron	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'- GGGTAACTGTGAGGTTCTACC -3'
(R):5'- ACGATCCGAGACTTGAGTTTGC -3'

Sequencing Primer
(F):5'- TTTGCACCCTGGAGGAGAG -3'
(R):5'- CGAGACTTGAGTTTGCTGCCC -3'

Posted On

2014-08-25