Incidental Mutation 'IGL02826:Camk1d'
ID 361204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camk1d
Ensembl Gene ENSMUSG00000039145
Gene Name calcium/calmodulin-dependent protein kinase ID
Synonyms E030025C11Rik, CKLiK, A630059D12Rik, CaMKIdelta
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02826
Quality Score
Status
Chromosome 2
Chromosomal Location 5298268-5719326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5570571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 30 (V30A)
Ref Sequence ENSEMBL: ENSMUSP00000110638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044009] [ENSMUST00000114987]
AlphaFold Q8BW96
Predicted Effect possibly damaging
Transcript: ENSMUST00000044009
AA Change: V38A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
AA Change: V38A

DomainStartEndE-ValueType
S_TKc 23 279 5.87e-112 SMART
low complexity region 326 343 N/A INTRINSIC
low complexity region 358 368 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114987
AA Change: V30A

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
AA Change: V30A

DomainStartEndE-ValueType
S_TKc 23 271 1.35e-102 SMART
low complexity region 318 335 N/A INTRINSIC
low complexity region 350 360 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155927
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,655,302 (GRCm39) probably benign Het
Alk C T 17: 72,176,531 (GRCm39) G1591D probably damaging Het
Angptl2 T C 2: 33,118,327 (GRCm39) S34P probably benign Het
Atp2a2 A G 5: 122,627,354 (GRCm39) V137A probably benign Het
Atp8b5 A G 4: 43,366,770 (GRCm39) M845V probably damaging Het
Ceacam19 G A 7: 19,616,535 (GRCm39) T193I probably benign Het
Cfap298 A C 16: 90,722,950 (GRCm39) D261E probably benign Het
Chst15 T A 7: 131,868,475 (GRCm39) D315V probably damaging Het
Cux1 G T 5: 136,336,857 (GRCm39) P885Q probably damaging Het
Cyth1 C T 11: 118,076,307 (GRCm39) E88K possibly damaging Het
Dido1 A G 2: 180,325,751 (GRCm39) V479A probably benign Het
Dlc1 G T 8: 37,037,429 (GRCm39) probably benign Het
H2-Ab1 G A 17: 34,483,885 (GRCm39) R82Q probably damaging Het
Hps6 T A 19: 45,994,480 (GRCm39) *806K probably null Het
Ilf3 T C 9: 21,309,340 (GRCm39) S486P probably benign Het
Kdm1b C A 13: 47,233,943 (GRCm39) T759K probably damaging Het
Kirrel1 C A 3: 86,995,792 (GRCm39) V381F probably damaging Het
Kmt2b A T 7: 30,276,569 (GRCm39) V1701E probably damaging Het
Lrmda T C 14: 22,878,805 (GRCm39) Y100H probably damaging Het
Mastl T C 2: 23,035,421 (GRCm39) I169V probably damaging Het
Mroh2b A G 15: 4,991,630 (GRCm39) E1576G probably damaging Het
Nek3 A T 8: 22,650,384 (GRCm39) probably null Het
Nipal3 G T 4: 135,195,861 (GRCm39) Y247* probably null Het
Nt5e A C 9: 88,237,758 (GRCm39) K229N probably damaging Het
Opa1 A G 16: 29,429,705 (GRCm39) M290V probably null Het
Or2a14 A G 6: 43,130,511 (GRCm39) I91V possibly damaging Het
Or8d6 G T 9: 39,854,254 (GRCm39) G233C probably damaging Het
Parp2 T A 14: 51,052,872 (GRCm39) I155K probably benign Het
Pde4dip G T 3: 97,674,403 (GRCm39) A171E probably damaging Het
Prom2 C T 2: 127,373,036 (GRCm39) E678K probably benign Het
Rab12 A G 17: 66,805,111 (GRCm39) probably benign Het
Rgs8 A T 1: 153,546,545 (GRCm39) T13S probably damaging Het
Setd3 A G 12: 108,078,383 (GRCm39) probably benign Het
Shisal1 A G 15: 84,304,330 (GRCm39) probably benign Het
Slx4ip G A 2: 136,846,893 (GRCm39) V53I probably damaging Het
Stil A G 4: 114,881,295 (GRCm39) D613G probably benign Het
Tektip1 A G 10: 81,200,570 (GRCm39) probably benign Het
Tjp3 T A 10: 81,109,523 (GRCm39) S858C probably damaging Het
Tmem215 A G 4: 40,474,632 (GRCm39) *236W probably null Het
Ttbk1 A G 17: 46,781,586 (GRCm39) V389A probably benign Het
Wdfy4 A G 14: 32,693,707 (GRCm39) F2706S possibly damaging Het
Xpo4 C A 14: 57,866,877 (GRCm39) V222L possibly damaging Het
Zfc3h1 A G 10: 115,236,809 (GRCm39) S428G probably benign Het
Zfp286 T C 11: 62,678,786 (GRCm39) Q47R probably damaging Het
Zfp318 A G 17: 46,709,680 (GRCm39) K468E probably damaging Het
Other mutations in Camk1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Camk1d APN 2 5,315,884 (GRCm39) splice site probably benign
IGL02138:Camk1d APN 2 5,449,895 (GRCm39) nonsense probably null
IGL02999:Camk1d APN 2 5,359,516 (GRCm39) missense probably benign 0.44
R0432:Camk1d UTSW 2 5,449,946 (GRCm39) missense probably damaging 1.00
R1180:Camk1d UTSW 2 5,366,836 (GRCm39) nonsense probably null
R1448:Camk1d UTSW 2 5,366,836 (GRCm39) nonsense probably null
R1628:Camk1d UTSW 2 5,315,848 (GRCm39) missense probably damaging 0.99
R1850:Camk1d UTSW 2 5,366,826 (GRCm39) missense probably benign 0.08
R1998:Camk1d UTSW 2 5,366,836 (GRCm39) nonsense probably null
R2000:Camk1d UTSW 2 5,366,836 (GRCm39) nonsense probably null
R2513:Camk1d UTSW 2 5,719,047 (GRCm39) start codon destroyed probably null 0.15
R4065:Camk1d UTSW 2 5,570,584 (GRCm39) missense probably damaging 1.00
R4201:Camk1d UTSW 2 5,359,587 (GRCm39) missense probably benign 0.03
R4581:Camk1d UTSW 2 5,359,515 (GRCm39) missense probably benign 0.21
R4760:Camk1d UTSW 2 5,366,867 (GRCm39) missense probably damaging 1.00
R4894:Camk1d UTSW 2 5,359,539 (GRCm39) missense probably damaging 1.00
R5001:Camk1d UTSW 2 5,317,912 (GRCm39) missense possibly damaging 0.50
R5394:Camk1d UTSW 2 5,308,177 (GRCm39) missense probably benign 0.10
R5754:Camk1d UTSW 2 5,449,910 (GRCm39) missense probably damaging 1.00
R5754:Camk1d UTSW 2 5,449,908 (GRCm39) missense probably benign 0.10
R5877:Camk1d UTSW 2 5,570,476 (GRCm39) missense probably benign 0.00
R6444:Camk1d UTSW 2 5,317,956 (GRCm39) missense probably damaging 1.00
R7315:Camk1d UTSW 2 5,344,041 (GRCm39) missense probably damaging 1.00
R9177:Camk1d UTSW 2 5,303,901 (GRCm39) missense probably benign 0.21
R9268:Camk1d UTSW 2 5,303,901 (GRCm39) missense probably benign 0.21
R9329:Camk1d UTSW 2 5,449,954 (GRCm39) missense probably benign
R9433:Camk1d UTSW 2 5,680,777 (GRCm39) missense unknown
Posted On 2015-12-18