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) question?
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

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 noncoding transcript
Transcript: ENSMUST00000131792
Predicted Effect probably benign
Transcript: ENSMUST00000137225
SMART Domains Protein: ENSMUSP00000117404
Gene: ENSMUSG00000006191

DomainStartEndE-ValueType
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

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 noncoding transcript
Transcript: ENSMUST00000153086
Meta Mutation Damage Score 0.2936 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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