Incidental Mutation 'R5838:Cdkal1'
ID449753
Institutional Source Beutler Lab
Gene Symbol Cdkal1
Ensembl Gene ENSMUSG00000006191
Gene NameCDK5 regulatory subunit associated protein 1-like 1
Synonyms
MMRRC Submission 044058-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5838 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location29191746-29855674 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29691686 bp
ZygosityHeterozygous
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]
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: 105,972,880 V385I probably benign Het
Apmap T C 2: 150,585,857 Y315C probably damaging Het
Arhgef12 G A 9: 43,005,608 T414I probably damaging Het
Cd200r1 C A 16: 44,766,034 A9D possibly damaging Het
Clk1 C A 1: 58,412,660 C432F probably damaging Het
Col27a1 G T 4: 63,225,528 L484F probably damaging Het
Col7a1 A G 9: 108,978,143 E2480G unknown Het
D430042O09Rik A T 7: 125,867,655 M1361L possibly damaging Het
Dnah5 A G 15: 28,290,195 I1244V probably benign Het
Dock3 G T 9: 106,895,488 P522Q possibly damaging Het
Drc1 T A 5: 30,366,513 probably null Het
Epas1 C T 17: 86,823,686 T298I possibly damaging Het
Epha1 A T 6: 42,361,646 I699N probably damaging Het
Ephb3 T C 16: 21,221,687 S558P probably damaging Het
Epn1 T A 7: 5,097,166 L426* probably null Het
Fam234b T C 6: 135,225,267 V329A probably benign Het
Fasn G T 11: 120,816,124 R901S probably damaging Het
Fbln2 T C 6: 91,271,848 M1165T possibly damaging Het
Fer1l4 T C 2: 156,051,993 R103G probably benign Het
G6pd2 T A 5: 61,809,225 D114E probably benign Het
Galnt10 A G 11: 57,781,056 K391E probably damaging Het
Gpr150 C A 13: 76,055,926 C300F probably benign Het
Hhipl2 A G 1: 183,423,571 T151A probably damaging Het
Hmcn2 C A 2: 31,457,807 L4822M probably damaging Het
Ifi207 T A 1: 173,732,387 Q173L unknown Het
Inca1 T C 11: 70,689,881 E86G probably damaging Het
Iqca A G 1: 90,144,945 L71P probably benign Het
Kank2 G T 9: 21,795,393 Q110K probably damaging Het
Kif13b A T 14: 64,737,555 M407L probably damaging Het
Kif5a A C 10: 127,245,441 I208S probably damaging Het
Kmt2c T C 5: 25,284,471 K4490R probably damaging Het
Ltbp2 C T 12: 84,789,101 R1352H probably benign Het
Macf1 T C 4: 123,452,154 Q2061R possibly damaging Het
Marcks A G 10: 37,136,167 S291P probably benign Het
Mccc1 A G 3: 35,985,082 V254A possibly damaging Het
Mdn1 C T 4: 32,754,547 R4683W probably damaging Het
Mon2 A G 10: 123,010,492 probably null Het
Ndrg4 A T 8: 95,706,793 H134L probably damaging Het
Nek7 C A 1: 138,534,363 probably null Het
Nlrc3 C T 16: 3,953,995 S151N probably damaging Het
Nsl1 C A 1: 191,070,113 A146E probably benign Het
Olfr1391 A C 11: 49,327,933 N174T probably damaging Het
Olfr1477 T A 19: 13,502,558 Y72N probably damaging Het
Olfr519 A T 7: 108,894,085 F107L probably benign Het
Olfr655 A G 7: 104,596,897 Y95H probably benign Het
Olfr800 A T 10: 129,660,038 R77S probably benign Het
Pde4d A C 13: 109,740,442 S41R probably damaging Het
Phlpp1 T A 1: 106,347,132 L875* probably null Het
Pkd1 T A 17: 24,580,212 S2802T possibly damaging Het
Polr3b A G 10: 84,674,590 T500A probably benign Het
Ppp2r2c T C 5: 36,940,187 V239A probably benign Het
Pramef6 A G 4: 143,896,920 V228A probably benign Het
Reln T A 5: 21,899,113 I3287F probably damaging Het
Scube2 T C 7: 109,808,444 D763G probably damaging Het
Setd5 T C 6: 113,119,435 V534A probably benign Het
Slc10a4 T A 5: 73,012,030 C333S probably benign Het
Slc15a1 G A 14: 121,484,871 A206V probably damaging Het
Snx14 A G 9: 88,391,776 L654P probably damaging Het
Sowahc G A 10: 59,223,190 A383T possibly damaging Het
Taf1b A G 12: 24,500,449 D11G possibly damaging Het
Tap1 C T 17: 34,193,305 Q164* probably null Het
Tbcel T A 9: 42,415,872 R430W probably damaging Het
Trappc11 A T 8: 47,512,559 probably null Het
Trim15 T C 17: 36,862,840 I259V probably damaging Het
Trpt1 T C 19: 6,998,300 S141P probably damaging Het
Tsc2 T A 17: 24,613,216 Q732L probably benign Het
Tstd3 C A 4: 21,759,622 probably null Het
Unc13d T C 11: 116,064,625 K914R possibly damaging Het
Unk A G 11: 116,049,331 E170G probably damaging Het
Uqcc2 T A 17: 27,125,886 K62* probably null Het
Vim A G 2: 13,580,190 D394G probably damaging Het
Wdr47 G A 3: 108,624,736 probably null 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
R2964:Cdkal1 UTSW 13 29444035 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
R6729:Cdkal1 UTSW 13 29474695 missense probably damaging 1.00
Z1088:Cdkal1 UTSW 13 29777236 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 On2016-12-20