Incidental Mutation 'R5838:Cdkal1'
ID 449753
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 044058-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5838 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 29375729-30039657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29875669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 183 (D183G)
Ref Sequence ENSEMBL: ENSMUSP00000122249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006353] [ENSMUST00000137225] [ENSMUST00000140278]
AlphaFold Q91WE6
Predicted Effect probably benign
Transcript: ENSMUST00000006353
AA Change: D183G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006353
Gene: ENSMUSG00000006191
AA Change: D183G

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
AA Change: D183G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117404
Gene: ENSMUSG00000006191
AA Change: D183G

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:UPF0004 64 152 9.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140278
AA Change: D183G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122249
Gene: ENSMUSG00000006191
AA Change: D183G

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,863,706 (GRCm39) V385I probably benign Het
Apmap T C 2: 150,427,777 (GRCm39) Y315C probably damaging Het
Arhgef12 G A 9: 42,916,904 (GRCm39) T414I probably damaging Het
Cd200r1 C A 16: 44,586,397 (GRCm39) A9D possibly damaging Het
Clk1 C A 1: 58,451,819 (GRCm39) C432F probably damaging Het
Col27a1 G T 4: 63,143,765 (GRCm39) L484F probably damaging Het
Col7a1 A G 9: 108,807,211 (GRCm39) E2480G unknown Het
Dnah5 A G 15: 28,290,341 (GRCm39) I1244V probably benign Het
Dock3 G T 9: 106,772,687 (GRCm39) P522Q possibly damaging Het
Drc1 T A 5: 30,523,857 (GRCm39) probably null Het
Epas1 C T 17: 87,131,114 (GRCm39) T298I possibly damaging Het
Epha1 A T 6: 42,338,580 (GRCm39) I699N probably damaging Het
Ephb3 T C 16: 21,040,437 (GRCm39) S558P probably damaging Het
Epn1 T A 7: 5,100,165 (GRCm39) L426* probably null Het
Fam234b T C 6: 135,202,265 (GRCm39) V329A probably benign Het
Fasn G T 11: 120,706,950 (GRCm39) R901S probably damaging Het
Fbln2 T C 6: 91,248,830 (GRCm39) M1165T possibly damaging Het
Fer1l4 T C 2: 155,893,913 (GRCm39) R103G probably benign Het
G6pd2 T A 5: 61,966,568 (GRCm39) D114E probably benign Het
Galnt10 A G 11: 57,671,882 (GRCm39) K391E probably damaging Het
Gpr150 C A 13: 76,204,045 (GRCm39) C300F probably benign Het
Hhipl2 A G 1: 183,204,479 (GRCm39) T151A probably damaging Het
Hmcn2 C A 2: 31,347,819 (GRCm39) L4822M probably damaging Het
Ifi207 T A 1: 173,559,953 (GRCm39) Q173L unknown Het
Inca1 T C 11: 70,580,707 (GRCm39) E86G probably damaging Het
Iqca1 A G 1: 90,072,667 (GRCm39) L71P probably benign Het
Kank2 G T 9: 21,706,689 (GRCm39) Q110K probably damaging Het
Katnip A T 7: 125,466,827 (GRCm39) M1361L possibly damaging Het
Kif13b A T 14: 64,975,004 (GRCm39) M407L probably damaging Het
Kif5a A C 10: 127,081,310 (GRCm39) I208S probably damaging Het
Kmt2c T C 5: 25,489,469 (GRCm39) K4490R probably damaging Het
Ltbp2 C T 12: 84,835,875 (GRCm39) R1352H probably benign Het
Macf1 T C 4: 123,345,947 (GRCm39) Q2061R possibly damaging Het
Marcks A G 10: 37,012,163 (GRCm39) S291P probably benign Het
Mccc1 A G 3: 36,039,231 (GRCm39) V254A possibly damaging Het
Mdn1 C T 4: 32,754,547 (GRCm39) R4683W probably damaging Het
Mon2 A G 10: 122,846,397 (GRCm39) probably null Het
Ndrg4 A T 8: 96,433,421 (GRCm39) H134L probably damaging Het
Nek7 C A 1: 138,462,101 (GRCm39) probably null Het
Nlrc3 C T 16: 3,771,859 (GRCm39) S151N probably damaging Het
Nsl1 C A 1: 190,802,310 (GRCm39) A146E probably benign Het
Or10a3n A T 7: 108,493,292 (GRCm39) F107L probably benign Het
Or2y1e A C 11: 49,218,760 (GRCm39) N174T probably damaging Het
Or52ac1 A G 7: 104,246,104 (GRCm39) Y95H probably benign Het
Or5b120 T A 19: 13,479,922 (GRCm39) Y72N probably damaging Het
Or6c210 A T 10: 129,495,907 (GRCm39) R77S probably benign Het
Pde4d A C 13: 109,876,976 (GRCm39) S41R probably damaging Het
Phlpp1 T A 1: 106,274,862 (GRCm39) L875* probably null Het
Pkd1 T A 17: 24,799,186 (GRCm39) S2802T possibly damaging Het
Polr3b A G 10: 84,510,454 (GRCm39) T500A probably benign Het
Ppp2r2c T C 5: 37,097,531 (GRCm39) V239A probably benign Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Reln T A 5: 22,104,111 (GRCm39) I3287F probably damaging Het
Scube2 T C 7: 109,407,651 (GRCm39) D763G probably damaging Het
Setd5 T C 6: 113,096,396 (GRCm39) V534A probably benign Het
Slc10a4 T A 5: 73,169,373 (GRCm39) C333S probably benign Het
Slc15a1 G A 14: 121,722,283 (GRCm39) A206V probably damaging Het
Snx14 A G 9: 88,273,829 (GRCm39) L654P probably damaging Het
Sowahc G A 10: 59,059,012 (GRCm39) A383T possibly damaging Het
Taf1b A G 12: 24,550,448 (GRCm39) D11G possibly damaging Het
Tap1 C T 17: 34,412,279 (GRCm39) Q164* probably null Het
Tbcel T A 9: 42,327,168 (GRCm39) R430W probably damaging Het
Trappc11 A T 8: 47,965,594 (GRCm39) probably null Het
Trim15 T C 17: 37,173,732 (GRCm39) I259V probably damaging Het
Trpt1 T C 19: 6,975,668 (GRCm39) S141P probably damaging Het
Tsc2 T A 17: 24,832,190 (GRCm39) Q732L probably benign Het
Tstd3 C A 4: 21,759,622 (GRCm39) probably null Het
Unc13d T C 11: 115,955,451 (GRCm39) K914R possibly damaging Het
Unk A G 11: 115,940,157 (GRCm39) E170G probably damaging Het
Uqcc2 T A 17: 27,344,860 (GRCm39) K62* probably null Het
Vim A G 2: 13,585,001 (GRCm39) D394G probably damaging Het
Wdr47 G A 3: 108,532,052 (GRCm39) probably null 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
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
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'- CGTGGCATCAGATGTCCAAG -3'
(R):5'- GGCAGATAGAGTCAGTCCTTAAAAC -3'

Sequencing Primer
(F):5'- GCATCAGATGTCCAAGGGCATAC -3'
(R):5'- TGTGTTCAAATGATCACATCTTCTC -3'
Posted On 2016-12-20