Incidental Mutation 'R2964:Cdkal1'
ID256891
Institutional Source Beutler Lab
Gene Symbol Cdkal1
Ensembl Gene ENSMUSG00000006191
Gene NameCDK5 regulatory subunit associated protein 1-like 1
Synonyms
MMRRC Submission 040520-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2964 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location29191746-29855674 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29444035 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 39 (S39P)
Ref Sequence ENSEMBL: ENSMUSP00000105952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006353] [ENSMUST00000110323] [ENSMUST00000140278]
Predicted Effect silent
Transcript: ENSMUST00000006353
SMART Domains Protein: ENSMUSP00000006353
Gene: ENSMUSG00000006191

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000110323
AA Change: S39P
Predicted Effect silent
Transcript: ENSMUST00000140278
SMART Domains Protein: ENSMUSP00000122249
Gene: ENSMUSG00000006191

DomainStartEndE-ValueType
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 silent
Transcript: ENSMUST00000154209
SMART Domains Protein: ENSMUSP00000121792
Gene: ENSMUSG00000006191

DomainStartEndE-ValueType
Blast:Elp3 2 89 1e-55 BLAST
PDB:2QGQ|H 4 83 2e-8 PDB
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (43/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,626,405 R511* probably null Het
Acox3 T C 5: 35,605,267 I495T possibly damaging Het
Acsl3 A G 1: 78,694,294 S302G probably benign Het
Ap1s1 T C 5: 137,037,503 D148G probably damaging Het
Asprv1 T A 6: 86,628,366 C65S probably damaging Het
Chrna2 T C 14: 66,149,368 V321A possibly damaging Het
Chsy1 G A 7: 66,172,164 G716R probably damaging Het
Col13a1 G A 10: 61,961,331 R106W probably damaging Het
Cul9 A G 17: 46,502,228 V2355A probably damaging Het
Cwh43 T C 5: 73,408,336 probably benign Het
Dbi C T 1: 120,120,116 probably benign Het
Dync1h1 G A 12: 110,641,026 probably null Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fbxw21 A G 9: 109,145,510 I314T probably benign Het
Fstl3 T C 10: 79,781,223 V200A probably benign Het
Gpr45 G A 1: 43,032,508 D104N possibly damaging Het
Gsdma2 T C 11: 98,657,259 S184P probably damaging Het
Gtf2ird1 T C 5: 134,357,684 probably null Het
H2-T22 A G 17: 36,040,645 L231S probably damaging Het
Hrh4 T C 18: 13,022,369 C322R probably benign Het
Ing1 T A 8: 11,561,641 S26R probably benign Het
Kif3a A T 11: 53,578,930 I123F probably damaging Het
Lrp6 T C 6: 134,467,526 E1127G probably damaging Het
Ltf G T 9: 111,028,472 C443F possibly damaging Het
Mdc1 A T 17: 35,853,637 Q1359L possibly damaging Het
Mdga1 A T 17: 29,852,468 I393N probably damaging Het
Mnd1 C A 3: 84,134,109 C62F probably benign Het
Myo3a T C 2: 22,340,256 V509A possibly damaging Het
Nav2 C T 7: 49,557,032 T1535I probably damaging Het
Nlrp4d G T 7: 10,378,329 S626* probably null Het
Nup188 T A 2: 30,325,346 I732K probably damaging Het
Olfr1453 C T 19: 13,028,048 A94T probably benign Het
Olfr340 T C 2: 36,452,767 F61L probably damaging Het
Olfr355 G A 2: 36,927,407 R236C probably benign Het
Oprm1 T C 10: 6,788,914 S14P probably damaging Het
Pigr G A 1: 130,841,535 V28M probably damaging Het
Pnpla2 C T 7: 141,458,478 L215F probably damaging Het
Pth T C 7: 113,385,929 H79R probably benign Het
Rasal1 T A 5: 120,671,620 L530Q probably damaging Het
Sdccag8 A T 1: 176,948,371 K616M possibly damaging Het
Slc4a5 C T 6: 83,296,669 T997I probably damaging Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Trav7d-4 C T 14: 52,770,127 Q26* probably null Het
Zcchc8 A G 5: 123,720,867 S22P probably benign Het
Other mutations in Cdkal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Cdkal1 APN 13 29517510 missense probably benign 0.01
IGL03111:Cdkal1 APN 13 29354701 missense possibly damaging 0.52
R0450:Cdkal1 UTSW 13 29691596 splice site probably null
R0510:Cdkal1 UTSW 13 29691596 splice site probably null
R0513:Cdkal1 UTSW 13 29625965 intron probably benign
R0631:Cdkal1 UTSW 13 29354684 nonsense probably null
R1309:Cdkal1 UTSW 13 29357583 missense possibly damaging 0.80
R1515:Cdkal1 UTSW 13 29326150 missense probably damaging 0.98
R1774:Cdkal1 UTSW 13 29850048 missense probably damaging 1.00
R1803:Cdkal1 UTSW 13 29517471 missense probably damaging 1.00
R1815:Cdkal1 UTSW 13 29717791 missense possibly damaging 0.52
R2134:Cdkal1 UTSW 13 29354677 missense possibly damaging 0.93
R2219:Cdkal1 UTSW 13 29354758 missense probably benign 0.01
R2220:Cdkal1 UTSW 13 29354758 missense probably benign 0.01
R2389:Cdkal1 UTSW 13 29552236 missense probably damaging 1.00
R2497:Cdkal1 UTSW 13 29474541 missense unknown
R3769:Cdkal1 UTSW 13 29552403 splice site probably null
R5092:Cdkal1 UTSW 13 29846239 missense probably damaging 1.00
R5164:Cdkal1 UTSW 13 29625719 missense probably damaging 1.00
R5333:Cdkal1 UTSW 13 29326152 missense probably benign 0.01
R5514:Cdkal1 UTSW 13 29777287 missense probably damaging 1.00
R5630:Cdkal1 UTSW 13 29777215 critical splice donor site probably null
R5838:Cdkal1 UTSW 13 29691686 missense probably benign
R6729:Cdkal1 UTSW 13 29474695 missense probably damaging 1.00
R7950:Cdkal1 UTSW 13 29474412 intron probably null
Z1088:Cdkal1 UTSW 13 29777236 missense probably damaging 0.96
Predicted Primers
Posted On2014-12-31