Mutagenetix > Incidental Mutation

Incidental Mutation 'R7205:Mks1'

560550

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

045283-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87744041-87754629 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87747428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 153 (S153T)

Ref Sequence

ENSEMBL: ENSMUSP00000043790 (fasta)

Gene Model

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

AlphaFold

Q5SW45

Predicted Effect

probably benign
Transcript: ENSMUST00000038196
AA Change: S153T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000043790
Gene: ENSMUSG00000034121
AA Change: S153T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (99/102)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,993,587 (GRCm39)	K1269M	possibly damaging	Het
Adgrl2	A	T	3: 148,564,585 (GRCm39)	Y332N	probably damaging	Het
Adgrv1	C	T	13: 81,627,777 (GRCm39)	V3695I	probably benign	Het
Aldh1l1	A	T	6: 90,575,257 (GRCm39)	Y848F	probably damaging	Het
Ambra1	T	C	2: 91,598,103 (GRCm39)	V88A	possibly damaging	Het
Ankrd12	C	T	17: 66,292,160 (GRCm39)	R1091Q	probably damaging	Het
Apob	T	G	12: 8,055,087 (GRCm39)	V1362G	probably damaging	Het
Arhgap17	A	G	7: 122,905,661 (GRCm39)	L328P	probably damaging	Het
Arhgap27	A	C	11: 103,235,367 (GRCm39)	V9G	probably benign	Het
Arhgap33	A	T	7: 30,232,434 (GRCm39)	D34E	probably damaging	Het
Ash1l	A	G	3: 88,873,259 (GRCm39)	D14G	probably benign	Het
Atf6b	T	C	17: 34,872,703 (GRCm39)	Y575H	probably damaging	Het
Bcl2l2	T	G	14: 55,122,058 (GRCm39)	S74A	probably benign	Het
Begain	T	C	12: 109,004,794 (GRCm39)	T73A	possibly damaging	Het
Bicdl1	C	T	5: 115,808,340 (GRCm39)	R264Q	probably damaging	Het
Ccdc180	A	G	4: 45,914,588 (GRCm39)	D701G	probably benign	Het
Cd200r4	G	T	16: 44,653,529 (GRCm39)	V146L	probably damaging	Het
Cd226	G	A	18: 89,265,322 (GRCm39)	C200Y	probably damaging	Het
Cdcp3	T	C	7: 130,879,352 (GRCm39)		probably null	Het
Cdhr18	T	C	14: 13,866,032 (GRCm38)	T286A		Het
Cdk12	A	G	11: 98,115,451 (GRCm39)	N864S	unknown	Het
Cfhr4	A	T	1: 139,680,788 (GRCm39)	Y243*	probably null	Het
Clcnkb	A	T	4: 141,135,946 (GRCm39)	L413Q	probably damaging	Het
Cldn10	T	C	14: 119,099,255 (GRCm39)	V123A	possibly damaging	Het
Cnn1	T	A	9: 22,017,078 (GRCm39)		probably null	Het
Cpa5	C	A	6: 30,630,829 (GRCm39)	Q364K	probably benign	Het
Cstdc5	T	C	16: 36,187,809 (GRCm39)	I19V	probably benign	Het
Ddx11	A	G	17: 66,437,766 (GRCm39)	E164G	probably benign	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Drc7	T	A	8: 95,804,549 (GRCm39)	Y855N	probably damaging	Het
Fam20b	C	A	1: 156,529,968 (GRCm39)		probably null	Het
Fip1l1	T	A	5: 74,748,736 (GRCm39)		probably null	Het
Flt4	A	G	11: 49,525,125 (GRCm39)	D657G	probably null	Het
Fmo3	T	A	1: 162,781,857 (GRCm39)	T499S	possibly damaging	Het
Fyco1	C	T	9: 123,651,491 (GRCm39)	G1190S	probably benign	Het
Galnt17	C	A	5: 131,335,590 (GRCm39)		probably benign	Het
Ggcx	T	C	6: 72,404,987 (GRCm39)	I465T	probably damaging	Het
Gm7361	T	A	5: 26,466,116 (GRCm39)	N159K	probably damaging	Het
Golgb1	A	G	16: 36,695,663 (GRCm39)	N54S	unknown	Het
Grin2c	G	A	11: 115,141,876 (GRCm39)	P848S	probably damaging	Het
Grina	T	C	15: 76,133,287 (GRCm39)	V285A	probably damaging	Het
Gtpbp6	A	G	5: 110,252,478 (GRCm39)	L381P	probably damaging	Het
Herc2	G	T	7: 55,832,388 (GRCm39)	G3028V	probably damaging	Het
Ibsp	A	T	5: 104,458,297 (GRCm39)	Y278F	probably damaging	Het
Ints4	T	A	7: 97,184,433 (GRCm39)	L846*	probably null	Het
Kif17	A	G	4: 138,021,077 (GRCm39)	K849E	probably benign	Het
Krt77	G	A	15: 101,777,806 (GRCm39)	P83L	probably benign	Het
Ky	T	G	9: 102,419,491 (GRCm39)	D499E	probably damaging	Het
Lrp3	A	T	7: 34,902,051 (GRCm39)	M610K	probably damaging	Het
Lrrfip1	T	A	1: 91,019,338 (GRCm39)	D156E	probably benign	Het
Map6	C	A	7: 98,918,257 (GRCm39)	H343Q	probably benign	Het
Micu2	G	T	14: 58,191,606 (GRCm39)	D148E	probably benign	Het
Msantd5f3	A	G	4: 73,573,157 (GRCm39)	Y132C	probably damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myh9	T	C	15: 77,667,672 (GRCm39)	K587R	probably benign	Het
Neb	T	C	2: 52,086,368 (GRCm39)	Y5478C	probably damaging	Het
Nelfe	G	A	17: 35,069,912 (GRCm39)		probably null	Het
Nps	T	A	7: 134,870,510 (GRCm39)	L11I	probably damaging	Het
Nsd1	A	T	13: 55,394,283 (GRCm39)	D731V	probably damaging	Het
Nup50	A	G	15: 84,817,859 (GRCm39)	T93A	probably benign	Het
Nup98	A	T	7: 101,844,248 (GRCm39)	F29Y	unknown	Het
Oprd1	A	G	4: 131,841,112 (GRCm39)	I282T	probably damaging	Het
Or4c103	T	C	2: 88,513,767 (GRCm39)	H103R	possibly damaging	Het
Or5p50	T	C	7: 107,421,782 (GRCm39)	N298S	probably benign	Het
Or6b3	A	T	1: 92,439,573 (GRCm39)	M59K	probably benign	Het
Or6d12	A	G	6: 116,492,936 (GRCm39)	Y66C	probably damaging	Het
Osbp2	T	C	11: 3,662,134 (GRCm39)	I240V	probably damaging	Het
Otub2	C	A	12: 103,359,163 (GRCm39)	P84Q	probably benign	Het
Parp9	A	T	16: 35,777,360 (GRCm39)	I435F	probably benign	Het
Pcdh18	C	T	3: 49,709,923 (GRCm39)	R464H	probably benign	Het
Pcsk6	G	T	7: 65,675,156 (GRCm39)		probably null	Het
Ptgs2	G	A	1: 149,978,512 (GRCm39)	R208Q	probably benign	Het
Rab11b	G	A	17: 33,968,841 (GRCm39)	R51C	probably damaging	Het
Rad1	A	G	15: 10,493,343 (GRCm39)	I257V	probably benign	Het
Rbms3	C	T	9: 116,415,085 (GRCm39)		probably null	Het
Rxfp2	A	T	5: 149,983,364 (GRCm39)	I300L	probably benign	Het
Rxfp2	C	A	5: 149,983,368 (GRCm39)	T301K	probably benign	Het
Sars2	G	T	7: 28,443,733 (GRCm39)	A112S	probably benign	Het
Scn10a	T	C	9: 119,442,616 (GRCm39)	D1543G	probably damaging	Het
Serpinb1b	A	G	13: 33,271,406 (GRCm39)	H59R	probably benign	Het
Sgsm2	T	A	11: 74,745,319 (GRCm39)	D661V	possibly damaging	Het
Smad6	C	A	9: 63,927,688 (GRCm39)	V207L	probably damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,183 (GRCm39)		probably benign	Het
Spata31h1	A	T	10: 82,125,161 (GRCm39)	D2616E	probably benign	Het
Tenm2	C	T	11: 35,939,956 (GRCm39)	R1390Q	probably damaging	Het
Tmem132a	T	A	19: 10,844,295 (GRCm39)	Q101L	probably damaging	Het
Tmem151a	A	G	19: 5,132,801 (GRCm39)	V135A	probably damaging	Het
Trappc10	T	C	10: 78,046,262 (GRCm39)	K443E	probably damaging	Het
Trrap	A	T	5: 144,779,517 (GRCm39)	N3161I	possibly damaging	Het
Tspan32	G	T	7: 142,558,863 (GRCm39)	R6L	possibly damaging	Het
Tut7	C	G	13: 59,936,364 (GRCm39)	D1246H	probably damaging	Het
Ugt2a2	T	C	5: 87,608,468 (GRCm39)	D457G	possibly damaging	Het
Ulk2	A	T	11: 61,725,657 (GRCm39)	S140T	possibly damaging	Het
Upf1	C	T	8: 70,792,695 (GRCm39)	A338T	possibly damaging	Het
Usp43	C	T	11: 67,774,110 (GRCm39)	R460Q	probably null	Het
Uxs1	A	G	1: 43,856,118 (GRCm39)		probably benign	Het
Vmn1r59	A	G	7: 5,457,725 (GRCm39)	C12R	probably damaging	Het
Wdr64	A	G	1: 175,617,499 (GRCm39)	D693G	probably benign	Het
Wnk1	A	T	6: 119,920,839 (GRCm39)		probably null	Het
Wnt2	G	T	6: 18,028,046 (GRCm39)	R63S	probably benign	Het
Zfp418	A	T	7: 7,184,562 (GRCm39)	Q175L	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
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
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'- ATCCGAGACTTGAGTTTGCTGC -3'

Sequencing Primer
(F):5'- TCAGGTGTTTCTCCCCAA -3'
(R):5'- CCACAGGAAAGGGTCACTG -3'

Posted On

2019-06-26