Incidental Mutation 'R3769:Cdkal1'
ID |
273184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdkal1
|
Ensembl Gene |
ENSMUSG00000006191 |
Gene Name |
CDK5 regulatory subunit associated protein 1-like 1 |
Synonyms |
1190005B03Rik, 6620401C13Rik |
MMRRC Submission |
040746-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3769 (G1)
|
Quality Score |
166 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
29375729-30039657 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 29736386 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006353
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006353]
[ENSMUST00000137225]
[ENSMUST00000140278]
|
AlphaFold |
Q91WE6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000006353
|
SMART Domains |
Protein: ENSMUSP00000006353 Gene: ENSMUSG00000006191
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
Pfam:UPF0004
|
64 |
152 |
5.7e-24 |
PFAM |
Elp3
|
202 |
421 |
1.88e-40 |
SMART |
Pfam:TRAM
|
430 |
491 |
7e-9 |
PFAM |
low complexity region
|
554 |
568 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131792
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137225
|
SMART Domains |
Protein: ENSMUSP00000117404 Gene: ENSMUSG00000006191
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
Pfam:UPF0004
|
64 |
152 |
9.9e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140278
|
SMART Domains |
Protein: ENSMUSP00000122249 Gene: ENSMUSG00000006191
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
Pfam:UPF0004
|
64 |
152 |
8.7e-24 |
PFAM |
Elp3
|
202 |
421 |
1.88e-40 |
SMART |
Pfam:TRAM
|
430 |
491 |
9.6e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153086
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
98% (47/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired tRNALys modification. Mice homozygous for a gene trap allele exhibit altered glucose homeostasis and lipid accumulation at early stages when fed a high fat diet. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Ccer1 |
G |
A |
10: 97,530,414 (GRCm39) |
G359E |
probably damaging |
Het |
Celf1 |
T |
C |
2: 90,828,993 (GRCm39) |
V20A |
probably damaging |
Het |
Cep350 |
G |
A |
1: 155,828,950 (GRCm39) |
T318I |
probably damaging |
Het |
Chn2 |
A |
G |
6: 54,267,396 (GRCm39) |
D159G |
probably damaging |
Het |
Chst5 |
T |
A |
8: 112,616,513 (GRCm39) |
D369V |
possibly damaging |
Het |
Cmya5 |
A |
T |
13: 93,233,201 (GRCm39) |
I629K |
possibly damaging |
Het |
Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
Ddx3x |
T |
C |
X: 13,156,808 (GRCm39) |
|
probably benign |
Het |
Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
Dpy19l4 |
T |
C |
4: 11,276,868 (GRCm39) |
|
probably null |
Het |
Fgf10 |
G |
T |
13: 118,918,083 (GRCm39) |
V124F |
probably damaging |
Het |
Gm6356 |
C |
A |
14: 6,971,774 (GRCm38) |
M120I |
probably benign |
Het |
Gm7964 |
T |
A |
7: 83,405,338 (GRCm39) |
V76D |
probably damaging |
Het |
Gm826 |
A |
G |
2: 160,169,165 (GRCm39) |
V48A |
unknown |
Het |
Hoxb5 |
A |
G |
11: 96,194,795 (GRCm39) |
D119G |
possibly damaging |
Het |
Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
Itgb2 |
T |
C |
10: 77,385,802 (GRCm39) |
V255A |
possibly damaging |
Het |
Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
Pdia6 |
T |
C |
12: 17,320,457 (GRCm39) |
V32A |
probably damaging |
Het |
Pex6 |
G |
T |
17: 47,035,311 (GRCm39) |
|
probably null |
Het |
Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
Polr2c |
G |
A |
8: 95,586,928 (GRCm39) |
A65T |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
Scn5a |
G |
A |
9: 119,381,142 (GRCm39) |
|
probably benign |
Het |
Sh3rf3 |
A |
G |
10: 58,820,013 (GRCm39) |
T275A |
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
Slc35e1 |
A |
T |
8: 73,245,714 (GRCm39) |
I155N |
possibly damaging |
Het |
Slco1a4 |
A |
G |
6: 141,785,357 (GRCm39) |
Y78H |
probably damaging |
Het |
Snx15 |
T |
A |
19: 6,173,984 (GRCm39) |
|
probably benign |
Het |
Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
U2surp |
A |
G |
9: 95,375,750 (GRCm39) |
|
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ulk4 |
A |
G |
9: 121,092,766 (GRCm39) |
V157A |
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,000 (GRCm39) |
Y446C |
probably damaging |
Het |
Vps51 |
T |
C |
19: 6,126,378 (GRCm39) |
T125A |
possibly damaging |
Het |
Ypel1 |
T |
C |
16: 16,927,532 (GRCm39) |
H20R |
probably benign |
Het |
Zfp458 |
T |
A |
13: 67,405,546 (GRCm39) |
I298F |
probably damaging |
Het |
Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Cdkal1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02090:Cdkal1
|
APN |
13 |
29,701,493 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03111:Cdkal1
|
APN |
13 |
29,538,684 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0450:Cdkal1
|
UTSW |
13 |
29,875,579 (GRCm39) |
splice site |
probably null |
|
R0510:Cdkal1
|
UTSW |
13 |
29,875,579 (GRCm39) |
splice site |
probably null |
|
R0513:Cdkal1
|
UTSW |
13 |
29,809,948 (GRCm39) |
intron |
probably benign |
|
R0631:Cdkal1
|
UTSW |
13 |
29,538,667 (GRCm39) |
nonsense |
probably null |
|
R1309:Cdkal1
|
UTSW |
13 |
29,541,566 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1515:Cdkal1
|
UTSW |
13 |
29,510,133 (GRCm39) |
missense |
probably damaging |
0.98 |
R1774:Cdkal1
|
UTSW |
13 |
30,034,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R1803:Cdkal1
|
UTSW |
13 |
29,701,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R1815:Cdkal1
|
UTSW |
13 |
29,901,774 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2134:Cdkal1
|
UTSW |
13 |
29,538,660 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2219:Cdkal1
|
UTSW |
13 |
29,538,741 (GRCm39) |
missense |
probably benign |
0.01 |
R2220:Cdkal1
|
UTSW |
13 |
29,538,741 (GRCm39) |
missense |
probably benign |
0.01 |
R2389:Cdkal1
|
UTSW |
13 |
29,736,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R2497:Cdkal1
|
UTSW |
13 |
29,658,524 (GRCm39) |
missense |
unknown |
|
R2964:Cdkal1
|
UTSW |
13 |
29,628,018 (GRCm39) |
missense |
unknown |
|
R5092:Cdkal1
|
UTSW |
13 |
30,030,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R5164:Cdkal1
|
UTSW |
13 |
29,809,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R5333:Cdkal1
|
UTSW |
13 |
29,510,135 (GRCm39) |
missense |
probably benign |
0.01 |
R5514:Cdkal1
|
UTSW |
13 |
29,961,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R5630:Cdkal1
|
UTSW |
13 |
29,961,198 (GRCm39) |
critical splice donor site |
probably null |
|
R5838:Cdkal1
|
UTSW |
13 |
29,875,669 (GRCm39) |
missense |
probably benign |
|
R6729:Cdkal1
|
UTSW |
13 |
29,658,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R8352:Cdkal1
|
UTSW |
13 |
29,538,663 (GRCm39) |
missense |
probably benign |
0.13 |
R8444:Cdkal1
|
UTSW |
13 |
29,510,087 (GRCm39) |
missense |
probably benign |
0.23 |
R8452:Cdkal1
|
UTSW |
13 |
29,538,663 (GRCm39) |
missense |
probably benign |
0.13 |
R8825:Cdkal1
|
UTSW |
13 |
29,538,777 (GRCm39) |
missense |
probably benign |
0.22 |
R8878:Cdkal1
|
UTSW |
13 |
29,658,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R8903:Cdkal1
|
UTSW |
13 |
29,809,918 (GRCm39) |
makesense |
probably null |
|
R9535:Cdkal1
|
UTSW |
13 |
30,034,007 (GRCm39) |
missense |
probably benign |
|
R9763:Cdkal1
|
UTSW |
13 |
29,809,692 (GRCm39) |
nonsense |
probably null |
|
Z1088:Cdkal1
|
UTSW |
13 |
29,961,219 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGAGGCTATCACATGGTC -3'
(R):5'- CATGGTTGAAACTCTCTGGTGTTC -3'
Sequencing Primer
(F):5'- ACATGTGTTAGCGTGTCAATG -3'
(R):5'- TGAAACTCTCTGGTGTTCATAAAATG -3'
|
Posted On |
2015-03-25 |