Incidental Mutation 'R4357:Camkv'
ID 324617
Institutional Source Beutler Lab
Gene Symbol Camkv
Ensembl Gene ENSMUSG00000032936
Gene Name CaM kinase-like vesicle-associated
Synonyms
MMRRC Submission 041109-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4357 (G1)
Quality Score 116
Status Not validated
Chromosome 9
Chromosomal Location 107813097-107826882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107825145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 354 (G354E)
Ref Sequence ENSEMBL: ENSMUSP00000141444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035700] [ENSMUST00000049348] [ENSMUST00000193533] [ENSMUST00000194206] [ENSMUST00000194271] [ENSMUST00000195219]
AlphaFold Q3UHL1
Predicted Effect probably benign
Transcript: ENSMUST00000035700
AA Change: G382E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000040430
Gene: ENSMUSG00000032936
AA Change: G382E

DomainStartEndE-ValueType
S_TKc 24 286 4.21e-81 SMART
low complexity region 332 385 N/A INTRINSIC
internal_repeat_1 392 425 3.43e-15 PROSPERO
internal_repeat_1 416 449 3.43e-15 PROSPERO
low complexity region 461 478 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000049348
SMART Domains Protein: ENSMUSP00000040001
Gene: ENSMUSG00000032586

DomainStartEndE-ValueType
RING 7 49 6.68e-6 SMART
coiled coil region 70 278 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192567
Predicted Effect probably benign
Transcript: ENSMUST00000193533
Predicted Effect probably benign
Transcript: ENSMUST00000194206
AA Change: G354E

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141444
Gene: ENSMUSG00000032936
AA Change: G354E

DomainStartEndE-ValueType
STYKc 24 258 2.3e-8 SMART
low complexity region 304 357 N/A INTRINSIC
internal_repeat_1 364 397 2.93e-15 PROSPERO
internal_repeat_1 388 421 2.93e-15 PROSPERO
low complexity region 433 450 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194538
Predicted Effect probably benign
Transcript: ENSMUST00000194271
SMART Domains Protein: ENSMUSP00000141689
Gene: ENSMUSG00000032586

DomainStartEndE-ValueType
RING 7 49 3.2e-8 SMART
coiled coil region 54 143 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195219
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,248,084 (GRCm39) T65A possibly damaging Het
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Ap4m1 A G 5: 138,171,311 (GRCm39) E125G probably damaging Het
Atp13a2 C A 4: 140,729,215 (GRCm39) D599E probably benign Het
Brme1 T C 8: 84,886,221 (GRCm39) L59P probably benign Het
Casp8ap2 T A 4: 32,646,150 (GRCm39) M1741K probably benign Het
Chtf18 T C 17: 25,938,106 (GRCm39) D119G probably benign Het
Cnga1 T A 5: 72,775,595 (GRCm39) D42V probably damaging Het
Cysltr2 T C 14: 73,267,084 (GRCm39) I209V probably benign Het
Defa27 A T 8: 21,805,608 (GRCm39) Q16L probably null Het
Dnaja3 T C 16: 4,517,731 (GRCm39) I321T probably damaging Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eif2ak3 T A 6: 70,861,859 (GRCm39) I467N probably damaging Het
Eif5b T A 1: 38,089,339 (GRCm39) V1105E probably damaging Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Gm10803 A G 2: 93,394,350 (GRCm39) R41G unknown Het
Gm38392 A T 3: 88,154,741 (GRCm39) I221N probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hsd17b6 G T 10: 127,829,637 (GRCm39) probably null Het
Ids C A X: 69,389,950 (GRCm39) G506C probably damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Lats2 A G 14: 57,936,840 (GRCm39) S550P probably damaging Het
Lmo7 A G 14: 102,125,091 (GRCm39) R406G probably null Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Lrrfip2 A G 9: 111,028,755 (GRCm39) E326G probably damaging Het
Megf8 T A 7: 25,055,174 (GRCm39) I1969N probably benign Het
Mib1 A G 18: 10,751,844 (GRCm39) N242S probably benign Het
Ngf A G 3: 102,427,521 (GRCm39) E94G probably benign Het
Oas2 C T 5: 120,876,734 (GRCm39) probably null Het
Odf2 A G 2: 29,782,256 (GRCm39) T75A probably benign Het
Or4f60 A G 2: 111,902,583 (GRCm39) L115P probably damaging Het
Or5w11 T A 2: 87,458,810 (GRCm39) M1K probably null Het
Pi4ka T A 16: 17,185,303 (GRCm39) I266F probably benign Het
Prps2 T A X: 166,146,545 (GRCm39) K176* probably null Het
Psmd2 T G 16: 20,475,402 (GRCm39) D393E probably benign Het
Rabep2 A G 7: 126,047,397 (GRCm39) I753T probably damaging Het
Rara A C 11: 98,858,937 (GRCm39) I129L probably damaging Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Spmip4 T C 6: 50,551,190 (GRCm39) T420A probably benign Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Sptlc1 A T 13: 53,528,068 (GRCm39) I32K probably damaging Het
Srd5a3 T A 5: 76,295,547 (GRCm39) F79Y probably damaging Het
Ssrp1 A T 2: 84,871,495 (GRCm39) M306L probably benign Het
Sulf2 T C 2: 165,919,497 (GRCm39) E817G probably benign Het
Tiam2 C A 17: 3,501,128 (GRCm39) D922E probably damaging Het
Tle4 A G 19: 14,445,625 (GRCm39) V207A probably benign Het
Ttll12 A T 15: 83,465,958 (GRCm39) C413S probably damaging Het
Usp45 T A 4: 21,834,350 (GRCm39) Y809* probably null Het
Vmn2r59 G A 7: 41,661,644 (GRCm39) P724S probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Other mutations in Camkv
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0288:Camkv UTSW 9 107,823,555 (GRCm39) missense probably damaging 1.00
R0834:Camkv UTSW 9 107,823,045 (GRCm39) missense probably damaging 1.00
R1919:Camkv UTSW 9 107,824,287 (GRCm39) missense possibly damaging 0.89
R1996:Camkv UTSW 9 107,824,320 (GRCm39) missense probably damaging 1.00
R2165:Camkv UTSW 9 107,822,799 (GRCm39) missense possibly damaging 0.48
R3943:Camkv UTSW 9 107,825,182 (GRCm39) missense possibly damaging 0.70
R4006:Camkv UTSW 9 107,823,840 (GRCm39) missense probably damaging 1.00
R4406:Camkv UTSW 9 107,823,418 (GRCm39) critical splice donor site probably null
R4601:Camkv UTSW 9 107,823,295 (GRCm39) missense probably damaging 0.99
R5078:Camkv UTSW 9 107,822,572 (GRCm39) missense probably damaging 0.99
R5175:Camkv UTSW 9 107,824,581 (GRCm39) missense probably damaging 1.00
R5373:Camkv UTSW 9 107,824,088 (GRCm39) missense probably benign 0.05
R5379:Camkv UTSW 9 107,822,545 (GRCm39) missense probably damaging 0.99
R5480:Camkv UTSW 9 107,824,074 (GRCm39) missense probably damaging 1.00
R5484:Camkv UTSW 9 107,823,345 (GRCm39) missense probably damaging 1.00
R6335:Camkv UTSW 9 107,823,894 (GRCm39) critical splice donor site probably null
R6730:Camkv UTSW 9 107,825,516 (GRCm39) missense possibly damaging 0.73
R8430:Camkv UTSW 9 107,824,968 (GRCm39) missense probably damaging 0.99
R8701:Camkv UTSW 9 107,825,240 (GRCm39) missense possibly damaging 0.53
R8889:Camkv UTSW 9 107,823,333 (GRCm39) nonsense probably null
R8892:Camkv UTSW 9 107,823,333 (GRCm39) nonsense probably null
R8948:Camkv UTSW 9 107,824,296 (GRCm39) missense probably damaging 0.97
R8950:Camkv UTSW 9 107,824,296 (GRCm39) missense probably damaging 0.97
R9265:Camkv UTSW 9 107,825,262 (GRCm39) missense possibly damaging 0.53
R9631:Camkv UTSW 9 107,822,990 (GRCm39) missense probably benign 0.37
RF010:Camkv UTSW 9 107,825,059 (GRCm39) unclassified probably benign
RF039:Camkv UTSW 9 107,825,059 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGAAGCTCACCACGAACCTTTC -3'
(R):5'- TGTAGCGCTTCTGTCAGTAGC -3'

Sequencing Primer
(F):5'- AGTGACCACTCTCATGAAGCGG -3'
(R):5'- TCAGTAGCTGGAGTGACACTC -3'
Posted On 2015-06-24