Mutagenetix > Incidental Mutation

Incidental Mutation 'R6320:Mks1'

510110

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

044475-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6320 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87744041-87754629 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87746325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 97 (S97P)

Ref Sequence

ENSEMBL: ENSMUSP00000043790 (fasta)

Gene Model

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

AlphaFold

Q5SW45

Predicted Effect

probably benign
Transcript: ENSMUST00000038196
AA Change: S97P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000043790
Gene: ENSMUSG00000034121
AA Change: S97P

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	G	T	3: 20,369,943 (GRCm39)	A221D	probably benign	Het
Aldh18a1	A	T	19: 40,559,005 (GRCm39)	D280E	probably benign	Het
Apob	G	A	12: 8,039,194 (GRCm39)	D475N	probably benign	Het
Bmi1	C	T	2: 18,689,186 (GRCm39)	T290I	probably benign	Het
Brd8	A	T	18: 34,746,292 (GRCm39)	D139E	possibly damaging	Het
Cacna1e	C	A	1: 154,317,270 (GRCm39)	V1467F	possibly damaging	Het
Cdh15	A	G	8: 123,591,086 (GRCm39)	D445G	probably benign	Het
Ceacam5	T	A	7: 17,481,123 (GRCm39)	L290H	probably damaging	Het
Celsr1	G	T	15: 85,785,160 (GRCm39)	Q3025K	probably benign	Het
Chi3l1	T	A	1: 134,109,996 (GRCm39)	M1K	probably null	Het
Crybg2	T	C	4: 133,808,737 (GRCm39)	S1404P	probably damaging	Het
Cubn	C	A	2: 13,285,006 (GRCm39)	C3470F	probably damaging	Het
Cyp20a1	T	C	1: 60,391,331 (GRCm39)		probably null	Het
Cyp24a1	G	T	2: 170,328,704 (GRCm39)	T408K	probably benign	Het
Cyp2a12	A	T	7: 26,730,577 (GRCm39)	I181F	possibly damaging	Het
Dnm1l	A	T	16: 16,149,952 (GRCm39)	I268N	probably damaging	Het
Eif2a	A	G	3: 58,464,517 (GRCm39)		probably null	Het
Epg5	T	C	18: 78,005,613 (GRCm39)	F701S	probably damaging	Het
Fbxo46	T	C	7: 18,870,466 (GRCm39)	S362P	possibly damaging	Het
Fgf22	A	G	10: 79,592,830 (GRCm39)		probably benign	Het
Fhod1	A	C	8: 106,063,982 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,459,062 (GRCm39)	V2448D	probably damaging	Het
Gm2696	G	T	10: 77,671,972 (GRCm39)		probably benign	Het
Gmpr	T	C	13: 45,685,874 (GRCm39)	S214P	possibly damaging	Het
Krt6a	A	G	15: 101,600,744 (GRCm39)	V308A	probably damaging	Het
Lig3	T	A	11: 82,684,833 (GRCm39)		probably null	Het
Lrrc37a	T	A	11: 103,394,877 (GRCm39)	N183Y	probably benign	Het
Mapk8ip3	C	A	17: 25,125,879 (GRCm39)	G422V	probably damaging	Het
Mphosph9	A	T	5: 124,463,024 (GRCm39)	V7E	probably damaging	Het
Msh5	A	G	17: 35,248,900 (GRCm39)	L711P	probably damaging	Het
Naga	T	A	15: 82,216,404 (GRCm39)		probably null	Het
Nherf4	A	G	9: 44,159,980 (GRCm39)	V380A	probably benign	Het
Nlrp10	T	A	7: 108,524,953 (GRCm39)	T176S	possibly damaging	Het
Nqo1	T	C	8: 108,115,582 (GRCm39)	N232D	probably benign	Het
Or1j21	C	G	2: 36,683,585 (GRCm39)	N112K	possibly damaging	Het
Or2b6	T	A	13: 21,823,418 (GRCm39)	I92L	probably damaging	Het
P2ry6	A	G	7: 100,587,603 (GRCm39)	F252S	probably damaging	Het
P3h3	G	A	6: 124,831,835 (GRCm39)	R317W	probably benign	Het
Pakap	T	A	4: 57,710,173 (GRCm39)	C373S	probably damaging	Het
Phkb	T	A	8: 86,602,327 (GRCm39)	D39E	probably benign	Het
Psg16	G	A	7: 16,822,112 (GRCm39)	G23D	probably damaging	Het
Ptgr2	T	A	12: 84,349,111 (GRCm39)	I150K	probably benign	Het
Ptprf	A	G	4: 118,070,011 (GRCm39)	V1457A	probably benign	Het
Sart3	A	T	5: 113,889,301 (GRCm39)	Y508N	probably benign	Het
Sh3bp1	C	T	15: 78,795,715 (GRCm39)	P615S	probably damaging	Het
Ska3	A	T	14: 58,054,148 (GRCm39)	N267K	probably benign	Het
Slc26a7	A	G	4: 14,524,498 (GRCm39)	I462T	probably benign	Het
Slu7	C	T	11: 43,332,316 (GRCm39)	A244V	probably benign	Het
Smarca4	C	T	9: 21,548,671 (GRCm39)	P319L	probably damaging	Het
Smg9	A	G	7: 24,120,286 (GRCm39)	D420G	probably benign	Het
Strc	T	A	2: 121,205,439 (GRCm39)	D25V	probably benign	Het
Syne2	T	G	12: 76,108,424 (GRCm39)	V936G	probably damaging	Het
Tbc1d7	C	T	13: 43,306,409 (GRCm39)		probably benign	Het
Terb1	C	A	8: 105,173,831 (GRCm39)	D751Y	probably damaging	Het
Trpc1	A	G	9: 95,603,303 (GRCm39)	Y410H	probably damaging	Het
Ush2a	A	G	1: 188,089,043 (GRCm39)	N333D	probably benign	Het
Usp34	T	C	11: 23,402,520 (GRCm39)	S2438P	probably damaging	Het
Vps35l	T	C	7: 118,353,072 (GRCm39)	V189A	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zfp7	G	A	15: 76,774,810 (GRCm39)	G284D	possibly damaging	Het
Zfyve26	A	G	12: 79,286,776 (GRCm39)	S2271P	probably damaging	Het
Zscan18	G	A	7: 12,509,147 (GRCm39)		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
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'- CAGCTTGGATCCTTTTAACTCG -3'
(R):5'- TACAACCTAGAGCCAGCGAG -3'

Sequencing Primer
(F):5'- TCAGCTAGCGCTAGAAGT -3'
(R):5'- CCAGCGAGGCTAGAAAACCAG -3'

Posted On

2018-04-02