Incidental Mutation 'R1448:Camk1d'
ID 159005
Institutional Source Beutler Lab
Gene Symbol Camk1d
Ensembl Gene ENSMUSG00000039145
Gene Name calcium/calmodulin-dependent protein kinase ID
Synonyms E030025C11Rik, CKLiK, A630059D12Rik, CaMKIdelta
MMRRC Submission 039503-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1448 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 5298268-5719326 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 5366836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 126 (Y126*)
Ref Sequence ENSEMBL: ENSMUSP00000110638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044009] [ENSMUST00000114987]
AlphaFold Q8BW96
Predicted Effect probably null
Transcript: ENSMUST00000044009
AA Change: Y134*
SMART Domains Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
AA Change: Y134*

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 probably null
Transcript: ENSMUST00000114987
AA Change: Y126*
SMART Domains Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
AA Change: Y126*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.0%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417H12Rik T A 7: 107,223,952 (GRCm39) probably benign Het
A1cf A T 19: 31,886,196 (GRCm39) N35I possibly damaging Het
Abca2 T C 2: 25,330,542 (GRCm39) I1106T possibly damaging Het
Abca4 G A 3: 121,956,577 (GRCm39) probably null Het
Adgrv1 T C 13: 81,581,632 (GRCm39) D4804G probably benign Het
Adk T A 14: 21,102,708 (GRCm39) M1K probably null Het
Aff3 T C 1: 38,230,364 (GRCm39) N1006D probably damaging Het
Akap12 A G 10: 4,305,475 (GRCm39) T762A probably benign Het
Atosa C G 9: 74,917,456 (GRCm39) S685* probably null Het
Atp12a T A 14: 56,623,296 (GRCm39) M843K probably damaging Het
Bbx T A 16: 50,086,633 (GRCm39) K169* probably null Het
Bicra A T 7: 15,722,284 (GRCm39) V411E possibly damaging Het
Cel T C 2: 28,446,338 (GRCm39) Y511C probably damaging Het
Celf4 G T 18: 25,636,140 (GRCm39) probably null Het
Clasp1 A G 1: 118,436,646 (GRCm39) N310S probably benign Het
Col6a3 T C 1: 90,709,577 (GRCm39) K1873R unknown Het
Cstf1 A G 2: 172,217,795 (GRCm39) D136G probably damaging Het
Cwc22 T A 2: 77,741,899 (GRCm39) E470D probably damaging Het
Cxcr2 A T 1: 74,197,527 (GRCm39) D7V probably benign Het
Cytip A G 2: 58,035,192 (GRCm39) I168T probably damaging Het
D5Ertd579e A G 5: 36,760,083 (GRCm39) L1359P probably benign Het
Ddx25 A C 9: 35,469,034 (GRCm39) V26G probably benign Het
Dennd4a T A 9: 64,813,327 (GRCm39) S1429T possibly damaging Het
Dmd A G X: 83,892,306 (GRCm39) D2990G probably damaging Het
Dop1a C A 9: 86,424,785 (GRCm39) probably null Het
Eps8 T C 6: 137,499,852 (GRCm39) Q209R possibly damaging Het
Fabp6 T A 11: 43,486,992 (GRCm39) I112F probably benign Het
Fbxw10 T C 11: 62,738,418 (GRCm39) V104A possibly damaging Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Grin3a T C 4: 49,702,804 (GRCm39) Y894C probably damaging Het
Hydin C T 8: 111,173,217 (GRCm39) H967Y probably benign Het
Ip6k3 T C 17: 27,364,242 (GRCm39) K269E possibly damaging Het
Jup T C 11: 100,274,026 (GRCm39) K172E probably damaging Het
Katnal1 T C 5: 148,841,486 (GRCm39) D126G probably benign Het
Knl1 A T 2: 118,898,788 (GRCm39) K163M probably damaging Het
Krt17 C T 11: 100,148,365 (GRCm39) E359K possibly damaging Het
Lct T A 1: 128,235,559 (GRCm39) I483F probably damaging Het
Loxl2 G A 14: 69,930,489 (GRCm39) G751D probably damaging Het
Ltbp4 G A 7: 27,006,002 (GRCm39) R1559C possibly damaging Het
Man2c1 T A 9: 57,042,503 (GRCm39) D183E probably benign Het
Med17 T C 9: 15,187,139 (GRCm39) probably null Het
Mrgpra9 A C 7: 46,885,561 (GRCm39) S34R probably benign Het
Mrpl44 T A 1: 79,755,677 (GRCm39) N94K probably damaging Het
Nat8f1 A G 6: 85,887,924 (GRCm39) V12A probably benign Het
Nr2e3 C A 9: 59,850,797 (GRCm39) G354V probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nup155 T C 15: 8,141,890 (GRCm39) V94A probably benign Het
Or14a256 A T 7: 86,265,569 (GRCm39) C95S probably damaging Het
Or52h2 C T 7: 103,839,082 (GRCm39) V111I possibly damaging Het
Or5p76 T C 7: 108,122,525 (GRCm39) I211V probably benign Het
Or9q2 A T 19: 13,772,140 (GRCm39) Y278* probably null Het
Pcdhb10 A T 18: 37,545,556 (GRCm39) I211F possibly damaging Het
Phip A C 9: 82,797,476 (GRCm39) I509S possibly damaging Het
Pkhd1 C T 1: 20,655,381 (GRCm39) probably null Het
Psme4 T G 11: 30,802,744 (GRCm39) L1487R probably damaging Het
Ptgdr2 A G 19: 10,917,857 (GRCm39) S125G probably damaging Het
Ptpro A G 6: 137,418,114 (GRCm39) K126E probably damaging Het
Rdh16f2 T A 10: 127,712,794 (GRCm39) V264E probably benign Het
Ric8b C T 10: 84,783,535 (GRCm39) A131V possibly damaging Het
Rock1 A T 18: 10,070,233 (GRCm39) I1280N probably damaging Het
Rprd2 A G 3: 95,725,888 (GRCm39) V59A possibly damaging Het
Ruvbl1 T A 6: 88,444,551 (GRCm39) C49S probably benign Het
Scn2a A G 2: 65,514,189 (GRCm39) N291S probably benign Het
Serbp1 T A 6: 67,254,904 (GRCm39) H325Q probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Shisal2b T C 13: 104,982,470 (GRCm39) I151V probably benign Het
Slitrk3 G A 3: 72,957,674 (GRCm39) T366I probably damaging Het
Spryd3 A T 15: 102,026,827 (GRCm39) H307Q possibly damaging Het
Spx A T 6: 142,364,239 (GRCm39) D100V probably benign Het
Surf4 A G 2: 26,814,476 (GRCm39) F142L probably damaging Het
Syne2 T A 12: 76,067,099 (GRCm39) probably null Het
Syne2 T C 12: 76,098,952 (GRCm39) M5278T possibly damaging Het
Thap12 T C 7: 98,365,230 (GRCm39) V466A probably benign Het
Thap3 T C 4: 152,067,673 (GRCm39) K135R possibly damaging Het
Tmem131 G T 1: 36,866,439 (GRCm39) D448E probably benign Het
Tmem63b C G 17: 45,989,904 (GRCm39) R88P possibly damaging Het
Trim43a G T 9: 88,464,146 (GRCm39) C19F probably damaging Het
Trp63 C T 16: 25,707,870 (GRCm39) P526L possibly damaging Het
Ubqln3 T C 7: 103,791,997 (GRCm39) D31G probably damaging Het
Utp14b C A 1: 78,643,162 (GRCm39) N353K probably damaging Het
Vmn1r40 A G 6: 89,691,558 (GRCm39) K125R probably damaging Het
Vmn2r1 A G 3: 64,008,734 (GRCm39) Y471C probably damaging Het
Vmn2r13 A G 5: 109,322,001 (GRCm39) I232T probably damaging Het
Zfp263 A C 16: 3,564,323 (GRCm39) E204D probably benign Het
Zfp865 A T 7: 5,032,278 (GRCm39) K88* probably null 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
IGL02826:Camk1d APN 2 5,570,571 (GRCm39) missense possibly damaging 0.56
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
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
Predicted Primers PCR Primer
(F):5'- CAAAACTGCACAACTGCTCTTTCCG -3'
(R):5'- TTAGCCAGGGAGGCCATTTTGAC -3'

Sequencing Primer
(F):5'- GCCTCTCTCTTCTCAAAACATATC -3'
(R):5'- ATTGCTGTGCCACAAAGCTTG -3'
Posted On 2014-03-14