Incidental Mutation 'R5630:Cdkal1'
| ID |
501353 |
| 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 |
043281-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5630 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
29375729-30039657 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 29961198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006353]
[ENSMUST00000124532]
[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: ENSMUST00000123641
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124532
|
| SMART Domains |
Protein: ENSMUSP00000118815
Gene: ENSMUSG00000006191
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
Pfam:UPF0004
|
64 |
96 |
1.2e-8 |
PFAM |
|
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3s2 |
A |
T |
7: 79,559,647 (GRCm39) |
V94E |
probably damaging |
Het |
| Aven |
T |
A |
2: 112,344,890 (GRCm39) |
Y109* |
probably null |
Het |
| Cad |
T |
C |
5: 31,217,917 (GRCm39) |
S401P |
probably damaging |
Het |
| Ccdc122 |
A |
T |
14: 77,330,216 (GRCm39) |
I189F |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cnih4 |
C |
G |
1: 180,989,748 (GRCm39) |
F120L |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 99,999,794 (GRCm39) |
D184G |
probably damaging |
Het |
| Cpa2 |
T |
A |
6: 30,550,731 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
T |
C |
17: 29,445,190 (GRCm39) |
D38G |
probably damaging |
Het |
| Dst |
GGAATCGTGCACTCGAA |
GGAA |
1: 34,227,866 (GRCm39) |
|
probably null |
Het |
| E330034G19Rik |
A |
G |
14: 24,358,336 (GRCm39) |
|
probably benign |
Het |
| Flrt1 |
A |
T |
19: 7,073,830 (GRCm39) |
I239N |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,667,402 (GRCm39) |
I43F |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,896,971 (GRCm39) |
W310R |
probably damaging |
Het |
| Klrb1a |
A |
T |
6: 128,595,573 (GRCm39) |
D60E |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,644,529 (GRCm39) |
|
probably null |
Het |
| Lsm8 |
T |
A |
6: 18,851,672 (GRCm39) |
I41N |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,577,764 (GRCm39) |
M305V |
possibly damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or5p4 |
T |
A |
7: 107,680,323 (GRCm39) |
F107L |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,279,402 (GRCm39) |
Y177H |
probably damaging |
Het |
| Or8g20 |
T |
A |
9: 39,396,247 (GRCm39) |
M98L |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,208 (GRCm39) |
D196V |
possibly damaging |
Het |
| Pcmt1 |
A |
G |
10: 7,524,857 (GRCm39) |
Y84H |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,587,697 (GRCm39) |
I877K |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,553,195 (GRCm39) |
Y662H |
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,556,414 (GRCm39) |
D187E |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,314,898 (GRCm39) |
Y1873D |
probably damaging |
Het |
| Rcor2 |
A |
T |
19: 7,248,416 (GRCm39) |
R144W |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,647,075 (GRCm39) |
I222S |
probably benign |
Het |
| Rrp8 |
C |
A |
7: 105,382,608 (GRCm39) |
R448L |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,616,691 (GRCm39) |
I3909N |
probably damaging |
Het |
| Scn2a |
T |
G |
2: 65,556,709 (GRCm39) |
V1147G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Smox |
C |
T |
2: 131,366,786 (GRCm39) |
Q582* |
probably null |
Het |
| Sqor |
T |
A |
2: 122,651,277 (GRCm39) |
L180H |
possibly damaging |
Het |
| Stox2 |
T |
C |
8: 47,644,925 (GRCm39) |
D845G |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,250,102 (GRCm39) |
I469V |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tox |
C |
CTGGAGT |
4: 6,688,835 (GRCm39) |
|
probably benign |
Het |
| Trgc2 |
A |
G |
13: 19,489,279 (GRCm39) |
F151S |
possibly damaging |
Het |
| Upf2 |
T |
C |
2: 6,032,112 (GRCm39) |
V141A |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,615,125 (GRCm39) |
L772P |
probably damaging |
Het |
| Vmn2r83 |
A |
T |
10: 79,327,785 (GRCm39) |
T798S |
possibly damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
C |
T |
7: 109,687,980 (GRCm39) |
T473I |
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 |
|
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 |
|
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'- CTTATTTGGAGATGCAAAGAGGGC -3'
(R):5'- CCTAGGTAAGCACTTGCACAG -3'
Sequencing Primer
(F):5'- GACCTCCATGTGCACACTGTG -3'
(R):5'- CACTTGCACAGTGCTGATG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation