Incidental Mutation 'R5164:Cdkal1'
ID |
395609 |
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 |
042745-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5164 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
29375729-30039657 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 29809702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 214
(L214H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006353]
[ENSMUST00000137225]
[ENSMUST00000140278]
|
AlphaFold |
Q91WE6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006353
AA Change: L214H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006353 Gene: ENSMUSG00000006191 AA Change: L214H
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 damaging
Transcript: ENSMUST00000140278
AA Change: L214H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122249 Gene: ENSMUSG00000006191 AA Change: L214H
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 |
0.2936 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (49/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,583,793 (GRCm39) |
H4637Q |
probably benign |
Het |
Akap6 |
A |
G |
12: 53,189,249 (GRCm39) |
H2221R |
probably benign |
Het |
Arsj |
A |
T |
3: 126,231,808 (GRCm39) |
M185L |
probably benign |
Het |
Ccdc177 |
T |
C |
12: 80,805,336 (GRCm39) |
T313A |
unknown |
Het |
Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,965,675 (GRCm39) |
K445R |
probably damaging |
Het |
Chrnb3 |
T |
A |
8: 27,884,160 (GRCm39) |
I299N |
probably damaging |
Het |
Cse1l |
C |
A |
2: 166,786,348 (GRCm39) |
D826E |
probably benign |
Het |
Cwf19l2 |
T |
C |
9: 3,475,511 (GRCm39) |
V816A |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,408,438 (GRCm39) |
E3474D |
probably benign |
Het |
Dock5 |
A |
T |
14: 68,055,110 (GRCm39) |
Y585* |
probably null |
Het |
Ebf2 |
T |
C |
14: 67,627,970 (GRCm39) |
S322P |
possibly damaging |
Het |
Epha8 |
T |
C |
4: 136,672,983 (GRCm39) |
E267G |
possibly damaging |
Het |
Fkbp5 |
A |
G |
17: 28,656,964 (GRCm39) |
|
probably null |
Het |
Gbp4 |
T |
A |
5: 105,284,743 (GRCm39) |
K49* |
probably null |
Het |
Gramd4 |
A |
T |
15: 85,985,032 (GRCm39) |
T98S |
probably benign |
Het |
Hectd1 |
C |
A |
12: 51,874,272 (GRCm39) |
M1I |
probably null |
Het |
Hsd17b8 |
A |
G |
17: 34,245,952 (GRCm39) |
|
probably benign |
Het |
Hycc2 |
T |
C |
1: 58,574,597 (GRCm39) |
T315A |
probably benign |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Keg1 |
A |
G |
19: 12,692,044 (GRCm39) |
|
probably benign |
Het |
Lilra6 |
A |
T |
7: 3,917,880 (GRCm39) |
V88E |
probably damaging |
Het |
Mast1 |
A |
G |
8: 85,640,147 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,759,011 (GRCm39) |
|
probably null |
Het |
Nrdc |
C |
T |
4: 108,896,914 (GRCm39) |
T511I |
probably damaging |
Het |
Odad4 |
G |
A |
11: 100,462,346 (GRCm39) |
W506* |
probably null |
Het |
Or4c106 |
T |
A |
2: 88,682,914 (GRCm39) |
L207I |
probably benign |
Het |
Or5p6 |
G |
A |
7: 107,631,487 (GRCm39) |
T21I |
possibly damaging |
Het |
Or8k24 |
T |
C |
2: 86,215,815 (GRCm39) |
T316A |
probably benign |
Het |
Pms1 |
A |
G |
1: 53,246,799 (GRCm39) |
V301A |
probably damaging |
Het |
Pnisr |
A |
T |
4: 21,859,237 (GRCm39) |
Q144L |
possibly damaging |
Het |
Pp2d1 |
G |
T |
17: 53,815,098 (GRCm39) |
T542K |
probably benign |
Het |
Ppargc1b |
A |
T |
18: 61,435,715 (GRCm39) |
C922S |
probably damaging |
Het |
Ptprd |
T |
C |
4: 76,018,995 (GRCm39) |
|
probably null |
Het |
Runx3 |
T |
C |
4: 134,848,441 (GRCm39) |
S9P |
possibly damaging |
Het |
Serpina1b |
A |
G |
12: 103,698,346 (GRCm39) |
S168P |
probably benign |
Het |
Slc14a2 |
G |
A |
18: 78,200,487 (GRCm39) |
A722V |
probably damaging |
Het |
Slc23a2 |
T |
A |
2: 131,917,370 (GRCm39) |
|
probably benign |
Het |
Slc47a1 |
A |
G |
11: 61,243,886 (GRCm39) |
|
probably null |
Het |
Tcf20 |
A |
G |
15: 82,740,804 (GRCm39) |
S216P |
probably damaging |
Het |
Tpst1 |
T |
A |
5: 130,130,842 (GRCm39) |
I104N |
probably damaging |
Het |
Ufm1 |
A |
C |
3: 53,765,348 (GRCm39) |
|
probably benign |
Het |
Unkl |
A |
G |
17: 25,432,083 (GRCm39) |
|
probably null |
Het |
Usf3 |
T |
C |
16: 44,038,543 (GRCm39) |
S1008P |
probably damaging |
Het |
Ythdf3 |
T |
C |
3: 16,237,677 (GRCm39) |
V6A |
possibly damaging |
Het |
Zc3h3 |
A |
T |
15: 75,648,875 (GRCm39) |
S752R |
probably benign |
Het |
Zfp268 |
T |
C |
4: 145,348,775 (GRCm39) |
Y71H |
probably damaging |
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 |
|
R3769:Cdkal1
|
UTSW |
13 |
29,736,386 (GRCm39) |
splice site |
probably null |
|
R5092:Cdkal1
|
UTSW |
13 |
30,030,222 (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'- TTCAGACAGCTAAAGAAACTGGAAC -3'
(R):5'- AAAGTCACAAGGCTTACTAACTCTG -3'
Sequencing Primer
(F):5'- GCTAAAGAAACTGGAACCTTTAACG -3'
(R):5'- ACAAGGCTTACTAACTCTGTTCCTCG -3'
|
Posted On |
2016-06-21 |