Incidental Mutation 'R9763:Cdkal1'
ID |
735828 |
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 # |
R9763 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
29375729-30039657 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 29809692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 217
(C217*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006353
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006353]
[ENSMUST00000137225]
[ENSMUST00000140278]
|
AlphaFold |
Q91WE6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000006353
AA Change: C217*
|
SMART Domains |
Protein: ENSMUSP00000006353 Gene: ENSMUSG00000006191 AA Change: C217*
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: 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 null
Transcript: ENSMUST00000140278
AA Change: C217*
|
SMART Domains |
Protein: ENSMUSP00000122249 Gene: ENSMUSG00000006191 AA Change: C217*
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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,302,717 (GRCm39) |
D2167E |
possibly damaging |
Het |
Acadsb |
T |
A |
7: 131,045,327 (GRCm39) |
Y420N |
probably benign |
Het |
Adcy1 |
T |
A |
11: 7,014,126 (GRCm39) |
L176Q |
probably damaging |
Het |
Amdhd1 |
T |
A |
10: 93,367,398 (GRCm39) |
K252M |
possibly damaging |
Het |
Aspa |
C |
A |
11: 73,213,094 (GRCm39) |
E83* |
probably null |
Het |
Atat1 |
A |
G |
17: 36,220,899 (GRCm39) |
L10P |
probably damaging |
Het |
Ccdc141 |
T |
A |
2: 76,869,919 (GRCm39) |
N862I |
probably damaging |
Het |
Cttnbp2 |
C |
T |
6: 18,435,240 (GRCm39) |
S206N |
probably benign |
Het |
Dner |
A |
T |
1: 84,361,656 (GRCm39) |
I651N |
possibly damaging |
Het |
Efcab3 |
G |
A |
11: 104,890,485 (GRCm39) |
G4189E |
possibly damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Ercc6l2 |
T |
C |
13: 63,982,438 (GRCm39) |
V91A |
probably damaging |
Het |
Gask1a |
A |
G |
9: 121,805,421 (GRCm39) |
D404G |
probably damaging |
Het |
Gm13941 |
A |
G |
2: 110,931,518 (GRCm39) |
L38S |
unknown |
Het |
Golph3l |
G |
A |
3: 95,517,085 (GRCm39) |
E198K |
possibly damaging |
Het |
Hecw2 |
A |
C |
1: 53,963,074 (GRCm39) |
D812E |
probably damaging |
Het |
Ikzf2 |
T |
A |
1: 69,587,835 (GRCm39) |
E212V |
possibly damaging |
Het |
Il6st |
C |
T |
13: 112,627,051 (GRCm39) |
S281F |
probably damaging |
Het |
Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
Krt71 |
T |
G |
15: 101,646,757 (GRCm39) |
K317T |
probably damaging |
Het |
Lgi4 |
T |
C |
7: 30,760,020 (GRCm39) |
F72S |
probably damaging |
Het |
Map3k1 |
C |
T |
13: 111,912,499 (GRCm39) |
R174H |
probably damaging |
Het |
Marveld3 |
T |
A |
8: 110,688,375 (GRCm39) |
H122L |
probably benign |
Het |
Mrgprb2 |
A |
G |
7: 48,202,174 (GRCm39) |
S184P |
probably benign |
Het |
Mylk |
G |
T |
16: 34,699,482 (GRCm39) |
G282* |
probably null |
Het |
Myo16 |
T |
A |
8: 10,450,528 (GRCm39) |
M510K |
unknown |
Het |
Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
Or10a3 |
T |
A |
7: 108,480,874 (GRCm39) |
|
probably benign |
Het |
Or10a3n |
T |
G |
7: 108,493,210 (GRCm39) |
I140L |
probably benign |
Het |
Or3a1d |
T |
C |
11: 74,238,041 (GRCm39) |
Y3C |
probably damaging |
Het |
Or4e5 |
T |
G |
14: 52,728,307 (GRCm39) |
Y38S |
probably damaging |
Het |
Or8j3 |
A |
T |
2: 86,028,181 (GRCm39) |
M305K |
probably benign |
Het |
Or9g20 |
T |
G |
2: 85,630,060 (GRCm39) |
N185H |
possibly damaging |
Het |
Pdzrn4 |
T |
C |
15: 92,668,376 (GRCm39) |
Y843H |
probably damaging |
Het |
Prkca |
A |
G |
11: 107,903,867 (GRCm39) |
V242A |
possibly damaging |
Het |
Rbbp8 |
A |
T |
18: 11,865,261 (GRCm39) |
M717L |
probably benign |
Het |
Rnf150 |
T |
C |
8: 83,732,968 (GRCm39) |
S272P |
probably benign |
Het |
Rtraf |
A |
G |
14: 19,866,314 (GRCm39) |
V134A |
probably damaging |
Het |
Rubcnl |
T |
A |
14: 75,287,108 (GRCm39) |
L592* |
probably null |
Het |
Slc23a1 |
A |
G |
18: 35,755,364 (GRCm39) |
S484P |
probably damaging |
Het |
Slmap |
A |
G |
14: 26,204,118 (GRCm39) |
Y68H |
probably damaging |
Het |
Speer4b |
C |
A |
5: 27,705,206 (GRCm39) |
V56L |
probably damaging |
Het |
Sycp2l |
T |
A |
13: 41,306,232 (GRCm39) |
S84T |
|
Het |
Syne1 |
T |
C |
10: 5,007,858 (GRCm39) |
D122G |
probably benign |
Het |
Timd2 |
G |
T |
11: 46,573,540 (GRCm39) |
P155T |
probably benign |
Het |
Topbp1 |
G |
A |
9: 103,223,923 (GRCm39) |
R1401Q |
probably benign |
Het |
Trim36 |
C |
A |
18: 46,309,125 (GRCm39) |
D312Y |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,818,860 (GRCm39) |
T1094A |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,186,988 (GRCm39) |
Y465N |
probably damaging |
Het |
Zfpm1 |
T |
C |
8: 123,062,531 (GRCm39) |
L530P |
probably damaging |
Het |
Zmynd10 |
A |
T |
9: 107,425,965 (GRCm39) |
T100S |
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 |
|
R9535:Cdkal1
|
UTSW |
13 |
30,034,007 (GRCm39) |
missense |
probably benign |
|
Z1088:Cdkal1
|
UTSW |
13 |
29,961,219 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAACTGGAACCTTTAACGGG -3'
(R):5'- CTCTCCTAGTTAAAAGTCACAAGGC -3'
Sequencing Primer
(F):5'- AAGGATTGCTTGGCTCTC -3'
(R):5'- AGTCACAAGGCTTACTAACTCTG -3'
|
Posted On |
2022-11-14 |