Incidental Mutation 'R5514:Cdkal1'
ID 440258
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 043074-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5514 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 29375729-30039657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 29961270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 100 (A100T)
Ref Sequence ENSEMBL: ENSMUSP00000122249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006353] [ENSMUST00000124532] [ENSMUST00000137225] [ENSMUST00000140278]
AlphaFold Q91WE6
Predicted Effect probably damaging
Transcript: ENSMUST00000006353
AA Change: A100T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006353
Gene: ENSMUSG00000006191
AA Change: A100T

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: ENSMUST00000123641
Predicted Effect probably benign
Transcript: ENSMUST00000124532
SMART Domains Protein: ENSMUSP00000118815
Gene: ENSMUSG00000006191

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000137225
AA Change: A100T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117404
Gene: ENSMUSG00000006191
AA Change: A100T

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: A100T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122249
Gene: ENSMUSG00000006191
AA Change: A100T

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,390,520 (GRCm39) S382G probably damaging Het
Agr2 G A 12: 36,046,090 (GRCm39) V74I probably benign Het
Aldh3a1 T C 11: 61,108,867 (GRCm39) S423P probably damaging Het
Ampd1 C T 3: 102,986,488 (GRCm39) H56Y possibly damaging Het
Arhgef2 C A 3: 88,550,304 (GRCm39) P670T probably benign Het
Blk T G 14: 63,615,930 (GRCm39) D333A probably damaging Het
Bmi1 T C 2: 18,686,714 (GRCm39) I31T probably damaging Het
Cacna1d G A 14: 30,072,790 (GRCm39) Q62* probably null Het
Ccdc88c A G 12: 100,879,698 (GRCm39) S1801P probably damaging Het
Cfap251 G T 5: 123,425,829 (GRCm39) probably null Het
Chst4 G T 8: 110,756,606 (GRCm39) S419Y probably damaging Het
Cntn4 T C 6: 106,649,844 (GRCm39) I680T probably damaging Het
Ddx55 T C 5: 124,694,875 (GRCm39) V101A probably damaging Het
Ddx60 A T 8: 62,411,091 (GRCm39) E451V probably damaging Het
Dffa T A 4: 149,190,772 (GRCm39) probably null Het
Dgkd A G 1: 87,861,832 (GRCm39) R796G probably damaging Het
Dzank1 T A 2: 144,323,605 (GRCm39) M614L probably benign Het
Elf2 G T 3: 51,215,555 (GRCm39) Q52K probably damaging Het
Fcamr T A 1: 130,741,793 (GRCm39) L522Q probably damaging Het
Fscn2 T C 11: 120,258,858 (GRCm39) Y468H probably damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm4787 A G 12: 81,425,102 (GRCm39) V352A possibly damaging Het
Gtsf1 T C 15: 103,336,802 (GRCm39) Q13R probably benign Het
Itpkb G A 1: 180,241,474 (GRCm39) V715M probably damaging Het
Jmjd1c T A 10: 67,053,928 (GRCm39) S263T probably damaging Het
Krba1 T G 6: 48,390,429 (GRCm39) L736R probably damaging Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Mtor T A 4: 148,630,901 (GRCm39) V2286E probably damaging Het
Mybbp1a T A 11: 72,341,462 (GRCm39) V1100E possibly damaging Het
Myo5a G A 9: 75,061,048 (GRCm39) G518D probably damaging Het
Nalcn A T 14: 123,521,123 (GRCm39) I1594N probably benign Het
Nav1 C G 1: 135,398,299 (GRCm39) G761A probably benign Het
Ncoa2 A T 1: 13,251,445 (GRCm39) L276H probably damaging Het
Ndufaf7 T C 17: 79,245,051 (GRCm39) Y57H probably damaging Het
Nfkb2 A G 19: 46,299,847 (GRCm39) Y807C probably damaging Het
Nid2 A T 14: 19,852,535 (GRCm39) Q1081L probably damaging Het
Nkain2 T A 10: 31,827,189 (GRCm39) I134F probably damaging Het
Nmu A C 5: 76,497,979 (GRCm39) S69A probably damaging Het
Or4c15b A T 2: 89,112,817 (GRCm39) I220N probably damaging Het
Or5t7 T C 2: 86,507,225 (GRCm39) I151V probably benign Het
Pard3 A G 8: 128,153,086 (GRCm39) R886G probably damaging Het
Pde6b G T 5: 108,571,317 (GRCm39) Q423H probably benign Het
Pip5k1b A T 19: 24,327,505 (GRCm39) D450E probably damaging Het
Plcg1 T C 2: 160,595,275 (GRCm39) probably null Het
Pnpt1 T C 11: 29,103,246 (GRCm39) S504P possibly damaging Het
Pomt2 A T 12: 87,175,797 (GRCm39) D312E probably damaging Het
Ppp1r1b T C 11: 98,246,228 (GRCm39) L70P probably damaging Het
Prr5 C A 15: 84,587,096 (GRCm39) P282Q probably benign Het
Reln A T 5: 22,176,883 (GRCm39) W1928R possibly damaging Het
Sacm1l A T 9: 123,415,419 (GRCm39) R465* probably null Het
Sema7a A G 9: 57,863,046 (GRCm39) Y239C probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Svep1 T C 4: 58,044,054 (GRCm39) T3531A possibly damaging Het
Tjp1 A T 7: 65,004,609 (GRCm39) W19R probably damaging Het
Tmc2 T A 2: 130,083,564 (GRCm39) M507K possibly damaging Het
Unc13a A G 8: 72,095,795 (GRCm39) Y1241H probably damaging Het
Upp1 C T 11: 9,081,771 (GRCm39) P103S probably damaging Het
Vldlr A G 19: 27,221,624 (GRCm39) E663G probably damaging Het
Vmn2r68 G A 7: 84,886,767 (GRCm39) T49I possibly damaging Het
Xirp2 A T 2: 67,335,465 (GRCm39) M95L probably benign 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
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
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'- CTTATTTGGAGATGCAAAGAGGGC -3'
(R):5'- CAAACCGGATCTGACCAGAG -3'

Sequencing Primer
(F):5'- TGTGCACACTGTGGCACATG -3'
(R):5'- GGTAAGCACTTGCACAGT -3'
Posted On 2016-11-08