Incidental Mutation 'R9535:Cdkal1'
| ID |
719664 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9535 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
29375729-30039657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30034007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 29
(F29L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006353]
[ENSMUST00000091674]
[ENSMUST00000124532]
[ENSMUST00000129231]
[ENSMUST00000137225]
[ENSMUST00000140278]
|
| AlphaFold |
Q91WE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006353
AA Change: F29L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006353
Gene: ENSMUSG00000006191
AA Change: F29L
| 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 |
probably benign
Transcript: ENSMUST00000091674
AA Change: F29L
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000089262
Gene: ENSMUSG00000006191
AA Change: F29L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
Pfam:UPF0004
|
64 |
103 |
4.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124532
AA Change: F29L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118815
Gene: ENSMUSG00000006191
AA Change: F29L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
Pfam:UPF0004
|
64 |
96 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129231
AA Change: F29L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000120432
Gene: ENSMUSG00000006191
AA Change: F29L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
Pfam:UPF0004
|
64 |
96 |
4.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137225
AA Change: F29L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117404
Gene: ENSMUSG00000006191
AA Change: F29L
| 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
AA Change: F29L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122249
Gene: ENSMUSG00000006191
AA Change: F29L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
A |
17: 65,141,326 (GRCm39) |
R65S |
unknown |
Het |
| Abcc6 |
A |
G |
7: 45,626,687 (GRCm39) |
S1457P |
probably damaging |
Het |
| Alad |
T |
C |
4: 62,428,777 (GRCm39) |
D259G |
probably damaging |
Het |
| Atmin |
A |
G |
8: 117,683,327 (GRCm39) |
D329G |
probably damaging |
Het |
| Ccdc121 |
A |
G |
5: 31,644,954 (GRCm39) |
I236V |
probably benign |
Het |
| Chrng |
C |
T |
1: 87,139,202 (GRCm39) |
P518S |
probably benign |
Het |
| Cpa1 |
G |
T |
6: 30,641,847 (GRCm39) |
D224Y |
probably damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,895,365 (GRCm39) |
I1222V |
probably benign |
Het |
| Dnm1 |
A |
T |
2: 32,202,344 (GRCm39) |
S773T |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,706,368 (GRCm39) |
V419E |
possibly damaging |
Het |
| Il18rap |
T |
A |
1: 40,586,990 (GRCm39) |
V424E |
probably benign |
Het |
| Kdm6b |
C |
A |
11: 69,297,276 (GRCm39) |
G359* |
probably null |
Het |
| Krt84 |
A |
G |
15: 101,438,016 (GRCm39) |
|
probably null |
Het |
| Lig4 |
C |
A |
8: 10,022,325 (GRCm39) |
C485F |
probably damaging |
Het |
| Mpo |
T |
A |
11: 87,690,794 (GRCm39) |
W411R |
probably damaging |
Het |
| Mpv17l |
A |
G |
16: 13,759,149 (GRCm39) |
E8G |
probably benign |
Het |
| Mrps34 |
T |
C |
17: 25,114,451 (GRCm39) |
Y104H |
probably benign |
Het |
| Muc15 |
T |
A |
2: 110,562,007 (GRCm39) |
W148R |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,439,995 (GRCm39) |
D134G |
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,317,608 (GRCm39) |
Y405C |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,158,431 (GRCm39) |
S501P |
possibly damaging |
Het |
| Pwp1 |
C |
A |
10: 85,723,958 (GRCm39) |
S486R |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,557,171 (GRCm39) |
E1556G |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,561,698 (GRCm39) |
Q47R |
unknown |
Het |
| Siglece |
A |
G |
7: 43,307,055 (GRCm39) |
F311L |
probably benign |
Het |
| Slc27a3 |
A |
G |
3: 90,293,618 (GRCm39) |
L589P |
probably damaging |
Het |
| Spata31e2 |
A |
C |
1: 26,721,232 (GRCm39) |
L1316* |
probably null |
Het |
| Synrg |
T |
A |
11: 83,881,660 (GRCm39) |
M332K |
probably benign |
Het |
| Tasor2 |
T |
A |
13: 3,623,559 (GRCm39) |
R2130S |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,270,759 (GRCm39) |
N1183I |
probably damaging |
Het |
| Tmed11 |
A |
G |
5: 108,926,915 (GRCm39) |
I119T |
possibly damaging |
Het |
| Ttll3 |
C |
T |
6: 113,389,834 (GRCm39) |
R740W |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,935,161 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
C |
T |
17: 21,507,418 (GRCm39) |
H179Y |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,384,825 (GRCm39) |
M298V |
possibly damaging |
Het |
| Xrcc4 |
T |
A |
13: 90,089,118 (GRCm39) |
M280L |
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 |
|
|
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 |
|
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 |
|
|
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'- CTGGCCAGATTTGAAGCAATTCC -3'
(R):5'- CAAGGTTGGTAAGAATTGTTGACC -3'
Sequencing Primer
(F):5'- AAGATCCTATACCTGGAGTTACTGC -3'
(R):5'- GTTGACCAATACCATGCTAAGTGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation