Mutagenetix > Incidental Mutation

Incidental Mutation 'R9502:Mks1'

717661

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87744041-87754629 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87753766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 534 (A534E)

Ref Sequence

ENSEMBL: ENSMUSP00000043790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038196] [ENSMUST00000049768]

AlphaFold

Q5SW45

Predicted Effect

probably damaging
Transcript: ENSMUST00000038196
AA Change: A534E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043790
Gene: ENSMUSG00000034121
AA Change: A534E

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

probably benign
Transcript: ENSMUST00000049768

SMART Domains

Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:An_peroxidase	146	690	8.3e-184	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	A	1: 52,964,662 (GRCm39)	H22L	possibly damaging	Het
Abca2	C	A	2: 25,326,895 (GRCm39)	Y590*	probably null	Het
Acot1	G	T	12: 84,061,353 (GRCm39)	E220*	probably null	Het
Acsl5	T	G	19: 55,271,744 (GRCm39)	I292S	probably benign	Het
Acvr1b	C	T	15: 101,092,710 (GRCm39)	H118Y	probably benign	Het
Aggf1	A	G	13: 95,507,450 (GRCm39)	C112R	probably benign	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Carmil1	T	C	13: 24,323,357 (GRCm39)	T232A	probably benign	Het
Ccser2	A	G	14: 36,631,090 (GRCm39)	F649L	probably benign	Het
Cdcp3	T	C	7: 130,836,815 (GRCm39)	V419A	possibly damaging	Het
Cenpf	G	A	1: 189,388,978 (GRCm39)	T1618I	probably damaging	Het
Ces5a	G	A	8: 94,262,308 (GRCm39)	Q10*	probably null	Het
Cfap20dc	A	G	14: 8,659,452 (GRCm38)	F48L	probably damaging	Het
Cfh	A	T	1: 140,040,320 (GRCm39)	L592Q	possibly damaging	Het
Chchd6	T	C	6: 89,396,763 (GRCm39)	H216R	probably damaging	Het
Chrm5	A	T	2: 112,311,040 (GRCm39)	H25Q	probably damaging	Het
Clasp2	C	T	9: 113,737,866 (GRCm39)	T1080I	probably benign	Het
Clic6	G	T	16: 92,295,588 (GRCm39)	G83C	probably damaging	Het
Coro1c	A	T	5: 113,988,781 (GRCm39)	S187R	probably damaging	Het
Cyp2a4	A	G	7: 26,008,004 (GRCm39)	D137G	probably benign	Het
Ddhd1	G	T	14: 45,894,679 (GRCm39)	Q264K	possibly damaging	Het
Dhdds	A	T	4: 133,707,497 (GRCm39)	Y235N	probably damaging	Het
Ephb1	T	C	9: 101,918,486 (GRCm39)	E341G	probably damaging	Het
Fam53b	T	C	7: 132,361,740 (GRCm39)	D96G	probably benign	Het
Fcgbpl1	A	G	7: 27,836,891 (GRCm39)	D270G	probably benign	Het
Fermt1	G	T	2: 132,781,388 (GRCm39)	R67S	probably benign	Het
Fmnl2	C	A	2: 52,998,312 (GRCm39)	P559H	unknown	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Frmpd2	T	A	14: 33,227,404 (GRCm39)	F261I	probably benign	Het
Garem2	T	A	5: 30,321,750 (GRCm39)	L703Q	possibly damaging	Het
Ggct	T	A	6: 54,962,872 (GRCm39)	I180F	possibly damaging	Het
Gigyf2	T	A	1: 87,331,446 (GRCm39)	I198K	unknown	Het
Gucy2d	T	C	7: 98,107,942 (GRCm39)	F700L	probably benign	Het
Gucy2g	T	A	19: 55,198,816 (GRCm39)	I776F	probably damaging	Het
H2ac8	T	C	13: 23,755,045 (GRCm39)	I80V	probably benign	Het
Has1	T	C	17: 18,063,971 (GRCm39)	Y556C	probably damaging	Het
Hecw1	T	C	13: 14,546,567 (GRCm39)	I145V	probably damaging	Het
Helz2	T	A	2: 180,878,245 (GRCm39)	Y851F	possibly damaging	Het
Hes7	C	A	11: 69,013,711 (GRCm39)	P190Q	probably benign	Het
Hivep1	T	C	13: 42,322,779 (GRCm39)	C79R		Het
Hnrnpr	A	G	4: 136,056,681 (GRCm39)	D227G	probably damaging	Het
Hoxb9	C	A	11: 96,162,544 (GRCm39)	F59L	probably benign	Het
Hspb1	A	T	5: 135,917,930 (GRCm39)	H135L	probably benign	Het
Igkv1-122	T	A	6: 67,994,348 (GRCm39)	F79I	probably benign	Het
Igtp	G	C	11: 58,097,800 (GRCm39)	V324L	possibly damaging	Het
Il18r1	G	A	1: 40,528,852 (GRCm39)	A299T	probably benign	Het
Kat14	C	A	2: 144,235,527 (GRCm39)	P329Q	probably damaging	Het
Krt33b	T	A	11: 99,917,315 (GRCm39)	Q179L	probably benign	Het
Lrrk2	C	T	15: 91,607,365 (GRCm39)	A576V	probably damaging	Het
Map3k11	A	G	19: 5,740,624 (GRCm39)	E117G	probably damaging	Het
Mgme1	C	T	2: 144,114,156 (GRCm39)	A86V	probably benign	Het
Mrpl28	T	A	17: 26,343,594 (GRCm39)	I118N	probably damaging	Het
Mrps22	T	A	9: 98,480,219 (GRCm39)	Y102F	probably damaging	Het
Myt1	A	T	2: 181,461,991 (GRCm39)	H1000L	probably damaging	Het
Ncoa5	A	G	2: 164,854,802 (GRCm39)	Y107H	possibly damaging	Het
Nipsnap3a	A	T	4: 52,994,039 (GRCm39)	Y40F	probably benign	Het
Nlrc4	T	A	17: 74,752,580 (GRCm39)	Y601F	probably benign	Het
Obsl1	A	G	1: 75,466,267 (GRCm39)	L1487P	probably damaging	Het
Oit3	A	T	10: 59,264,173 (GRCm39)	N320K	probably damaging	Het
Or1e33	T	C	11: 73,738,825 (GRCm39)	N42S	probably damaging	Het
Or7a38	A	G	10: 78,753,559 (GRCm39)	N295S	probably damaging	Het
Otud4	T	C	8: 80,400,480 (GRCm39)	S1065P	probably benign	Het
P3h1	A	C	4: 119,094,008 (GRCm39)	E221A	possibly damaging	Het
Pgpep1	C	A	8: 71,103,899 (GRCm39)	A124S	probably benign	Het
Pigg	T	A	5: 108,495,782 (GRCm39)	S940T		Het
Proser3	G	T	7: 30,245,587 (GRCm39)	T139K	possibly damaging	Het
Prr36	C	T	8: 4,264,775 (GRCm39)	R297H	unknown	Het
Rai14	A	T	15: 10,587,947 (GRCm39)	F306I	possibly damaging	Het
Rnase13	T	A	14: 52,159,825 (GRCm39)	N105Y	probably damaging	Het
Ros1	A	G	10: 52,000,174 (GRCm39)	I1138T	probably benign	Het
Rsbn1	C	A	3: 103,822,146 (GRCm39)	T127K	possibly damaging	Het
Rsf1	G	GCCGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtca	T	C	3: 116,301,413 (GRCm39)	T45A	probably benign	Het
Sema6b	G	T	17: 56,439,500 (GRCm39)	D82E	probably benign	Het
Serpinc1	A	T	1: 160,821,179 (GRCm39)	K209*	probably null	Het
Slc4a1	C	A	11: 102,247,674 (GRCm39)	R403L	probably damaging	Het
Smtn	A	G	11: 3,482,780 (GRCm39)	V92A	possibly damaging	Het
Spag9	T	C	11: 93,959,792 (GRCm39)	V327A	probably damaging	Het
Spdl1	T	C	11: 34,713,283 (GRCm39)	N233S	possibly damaging	Het
Stimate	A	G	14: 30,593,463 (GRCm39)	N189S	probably damaging	Het
Ston2	T	C	12: 91,707,424 (GRCm39)	D62G	possibly damaging	Het
Sult2a5	A	G	7: 13,359,243 (GRCm39)	D73G	probably benign	Het
Ticrr	A	G	7: 79,343,597 (GRCm39)	E1154G	probably benign	Het
Tmem163	A	T	1: 127,480,529 (GRCm39)	M111K	probably damaging	Het
Tmem266	T	C	9: 55,344,973 (GRCm39)	V535A	probably damaging	Het
Tmprss7	T	A	16: 45,484,555 (GRCm39)	D535V	probably damaging	Het
Tmt1a	T	C	15: 100,203,215 (GRCm39)	V163A	probably damaging	Het
Tpcn1	A	C	5: 120,698,390 (GRCm39)	I44S	probably benign	Het
Trbv12-1	T	A	6: 41,090,921 (GRCm39)	F98I	probably damaging	Het
Trhde	A	T	10: 114,636,697 (GRCm39)	V170E	probably damaging	Het
Trpt1	A	T	19: 6,975,578 (GRCm39)	T111S	probably benign	Het
Ttc13	T	C	8: 125,410,010 (GRCm39)	T401A	possibly damaging	Het
Ulbp1	T	C	10: 7,423,260 (GRCm39)	I28V	probably benign	Het
Vldlr	A	T	19: 27,218,742 (GRCm39)	D531V	probably damaging	Het
Vmn2r85	T	A	10: 130,261,387 (GRCm39)	T317S	probably damaging	Het
Vps33a	T	C	5: 123,696,705 (GRCm39)	K316R	probably benign	Het
Vwa3b	A	G	1: 37,099,520 (GRCm39)	N245S	probably damaging	Het
Zfp266	A	T	9: 20,413,413 (GRCm39)	C82*	probably null	Het
Zfp746	T	C	6: 48,041,397 (GRCm39)	K443R	probably 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
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
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
Z1177:Mks1	UTSW	11	87,751,549 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGGGCTTTCATGGAATCG -3'
(R):5'- TTCTAGATCATCCAGTTTGGTCG -3'

Sequencing Primer
(F):5'- CAGGGCTTTCATGGAATCGAACTC -3'
(R):5'- GGTTGCAGAGAACTAGGT -3'

Posted On

2022-07-18