Incidental Mutation 'R6289:Mks1'
| ID |
508312 |
| 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 |
044459-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87744041-87754629 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 87750485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038196]
[ENSMUST00000038196]
[ENSMUST00000049768]
|
| AlphaFold |
Q5SW45 |
| Predicted Effect |
probably null
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 |
probably null
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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149256
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153729
|
| Meta Mutation Damage Score |
0.9599 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
G |
12: 81,607,480 (GRCm39) |
V94A |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,578,837 (GRCm39) |
S34P |
probably damaging |
Het |
| Arid3c |
G |
A |
4: 41,724,285 (GRCm39) |
|
probably benign |
Het |
| Atg16l1 |
C |
T |
1: 87,683,937 (GRCm39) |
R6C |
probably damaging |
Het |
| Bex6 |
A |
G |
16: 32,005,530 (GRCm39) |
I113V |
probably benign |
Het |
| Blk |
T |
C |
14: 63,613,341 (GRCm39) |
|
probably null |
Het |
| C1s1 |
A |
G |
6: 124,508,135 (GRCm39) |
F618S |
probably damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,639,590 (GRCm39) |
H215Y |
probably damaging |
Het |
| Casp9 |
T |
A |
4: 141,534,496 (GRCm39) |
V302E |
probably damaging |
Het |
| Ccl2 |
A |
C |
11: 81,927,795 (GRCm39) |
K80Q |
probably benign |
Het |
| Cit |
T |
G |
5: 116,144,385 (GRCm39) |
*2014E |
probably null |
Het |
| Dclk2 |
A |
T |
3: 86,739,124 (GRCm39) |
S292T |
probably benign |
Het |
| Ddx23 |
T |
C |
15: 98,547,765 (GRCm39) |
E463G |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fgf10 |
C |
A |
13: 118,852,028 (GRCm39) |
Q37K |
probably benign |
Het |
| Fgf22 |
A |
G |
10: 79,591,041 (GRCm39) |
D24G |
probably damaging |
Het |
| Gabra1 |
A |
G |
11: 42,045,846 (GRCm39) |
I88T |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
| H1f5 |
G |
T |
13: 21,964,609 (GRCm39) |
P39Q |
probably damaging |
Het |
| Hpse2 |
T |
A |
19: 42,777,418 (GRCm39) |
N583Y |
probably null |
Het |
| Katnal2 |
A |
G |
18: 77,105,151 (GRCm39) |
|
probably null |
Het |
| Keg1 |
T |
G |
19: 12,691,937 (GRCm39) |
C85G |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,106,615 (GRCm39) |
L1356H |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,196,391 (GRCm39) |
K192E |
probably benign |
Het |
| Or5b110-ps1 |
T |
C |
19: 13,260,158 (GRCm39) |
K88R |
possibly damaging |
Het |
| Rars1 |
C |
T |
11: 35,716,894 (GRCm39) |
M207I |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,655,147 (GRCm39) |
Y896C |
probably damaging |
Het |
| Scarf1 |
T |
A |
11: 75,416,242 (GRCm39) |
W472R |
possibly damaging |
Het |
| Septin8 |
A |
G |
11: 53,425,305 (GRCm39) |
N66S |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,669,424 (GRCm39) |
F191L |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,935,411 (GRCm39) |
M1879T |
probably benign |
Het |
| Tlr3 |
C |
T |
8: 45,849,966 (GRCm39) |
R901Q |
probably benign |
Het |
| Trpc4ap |
T |
C |
2: 155,505,627 (GRCm39) |
T203A |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,445,671 (GRCm39) |
S58G |
probably benign |
Het |
| Ubtd2 |
A |
G |
11: 32,466,177 (GRCm39) |
E132G |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,279,014 (GRCm39) |
E831V |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,325 (GRCm39) |
N418S |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,495,953 (GRCm39) |
I637S |
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 |
|
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 |
|
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'- TCTGCGGTGTCAGAAATAGG -3'
(R):5'- TCAGTCTCGTCTTGAAGGGTC -3'
Sequencing Primer
(F):5'- TCAGAAATAGGAAAGCGTCTTGTTG -3'
(R):5'- GTCTTGAAGGGTCCAAATGCTCTAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation