Incidental Mutation 'R3769:Cdkal1'
ID 273184
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 040746-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3769 (G1)
Quality Score 166
Status Validated
Chromosome 13
Chromosomal Location 29375729-30039657 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 29736386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006353] [ENSMUST00000137225] [ENSMUST00000140278]
AlphaFold Q91WE6
Predicted Effect probably null
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 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 benign
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 noncoding transcript
Transcript: ENSMUST00000153086
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (47/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Ccer1 G A 10: 97,530,414 (GRCm39) G359E probably damaging Het
Celf1 T C 2: 90,828,993 (GRCm39) V20A probably damaging Het
Cep350 G A 1: 155,828,950 (GRCm39) T318I probably damaging Het
Chn2 A G 6: 54,267,396 (GRCm39) D159G probably damaging Het
Chst5 T A 8: 112,616,513 (GRCm39) D369V possibly damaging Het
Cmya5 A T 13: 93,233,201 (GRCm39) I629K possibly damaging Het
Cplx4 T C 18: 66,102,998 (GRCm39) T41A probably benign Het
Ddx3x T C X: 13,156,808 (GRCm39) probably benign Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Dpy19l4 T C 4: 11,276,868 (GRCm39) probably null Het
Fgf10 G T 13: 118,918,083 (GRCm39) V124F probably damaging Het
Gm6356 C A 14: 6,971,774 (GRCm38) M120I probably benign Het
Gm7964 T A 7: 83,405,338 (GRCm39) V76D probably damaging Het
Gm826 A G 2: 160,169,165 (GRCm39) V48A unknown Het
Hoxb5 A G 11: 96,194,795 (GRCm39) D119G possibly damaging Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Itgb2 T C 10: 77,385,802 (GRCm39) V255A possibly damaging Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Pdia6 T C 12: 17,320,457 (GRCm39) V32A probably damaging Het
Pex6 G T 17: 47,035,311 (GRCm39) probably null Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Polr2c G A 8: 95,586,928 (GRCm39) A65T probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Scn5a G A 9: 119,381,142 (GRCm39) probably benign Het
Sh3rf3 A G 10: 58,820,013 (GRCm39) T275A probably benign Het
Slc27a2 A G 2: 126,409,718 (GRCm39) D300G possibly damaging Het
Slc35e1 A T 8: 73,245,714 (GRCm39) I155N possibly damaging Het
Slco1a4 A G 6: 141,785,357 (GRCm39) Y78H probably damaging Het
Snx15 T A 19: 6,173,984 (GRCm39) probably benign Het
Top1 A T 2: 160,563,442 (GRCm39) I758F probably damaging Het
U2surp A G 9: 95,375,750 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ulk4 A G 9: 121,092,766 (GRCm39) V157A probably benign Het
Urgcp T C 11: 5,667,000 (GRCm39) Y446C probably damaging Het
Vps51 T C 19: 6,126,378 (GRCm39) T125A possibly damaging Het
Ypel1 T C 16: 16,927,532 (GRCm39) H20R probably benign Het
Zfp458 T A 13: 67,405,546 (GRCm39) I298F probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) 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
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
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'- TCCTGAGGCTATCACATGGTC -3'
(R):5'- CATGGTTGAAACTCTCTGGTGTTC -3'

Sequencing Primer
(F):5'- ACATGTGTTAGCGTGTCAATG -3'
(R):5'- TGAAACTCTCTGGTGTTCATAAAATG -3'
Posted On 2015-03-25