Incidental Mutation 'R8892:Camkv'
ID 677764
Institutional Source Beutler Lab
Gene Symbol Camkv
Ensembl Gene ENSMUSG00000032936
Gene Name CaM kinase-like vesicle-associated
Synonyms
MMRRC Submission 068695-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8892 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 107813097-107826882 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 107823333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 120 (R120*)
Ref Sequence ENSEMBL: ENSMUSP00000040430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035700] [ENSMUST00000049348] [ENSMUST00000193533] [ENSMUST00000194206] [ENSMUST00000194271] [ENSMUST00000195219]
AlphaFold Q3UHL1
Predicted Effect probably null
Transcript: ENSMUST00000035700
AA Change: R120*
SMART Domains Protein: ENSMUSP00000040430
Gene: ENSMUSG00000032936
AA Change: R120*

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 probably benign
Transcript: ENSMUST00000193533
Predicted Effect probably null
Transcript: ENSMUST00000194206
AA Change: R120*
SMART Domains Protein: ENSMUSP00000141444
Gene: ENSMUSG00000032936
AA Change: R120*

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 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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.6%
Validation Efficiency 100% (76/76)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,815,606 (GRCm39) L285I probably damaging Het
Abcc2 T G 19: 43,795,571 (GRCm39) S442R possibly damaging Het
Adgrl3 A T 5: 81,874,516 (GRCm39) I938F probably damaging Het
Adpgk A G 9: 59,217,623 (GRCm39) Y212C probably damaging Het
Ahcyl1 C T 3: 107,579,378 (GRCm39) D219N probably benign Het
Ap3b1 G A 13: 94,679,348 (GRCm39) V997M unknown Het
Bbs1 A C 19: 4,942,954 (GRCm39) S479A probably benign Het
Bean1 A T 8: 104,943,610 (GRCm39) D231V probably damaging Het
Cacnb1 A T 11: 97,901,192 (GRCm39) V220E probably damaging Het
Ccny T G 18: 9,345,235 (GRCm39) S180R probably damaging Het
Cdh23 G T 10: 60,143,284 (GRCm39) H3012Q probably damaging Het
Chd9 A G 8: 91,660,468 (GRCm39) N476S unknown Het
Clasp2 T A 9: 113,709,251 (GRCm39) L680Q probably damaging Het
Clip1 A T 5: 123,717,565 (GRCm39) S1241R probably benign Het
Cramp1 C T 17: 25,202,114 (GRCm39) G456D probably damaging Het
Csmd3 T A 15: 47,604,634 (GRCm39) K1036N Het
Ctnna1 G A 18: 35,372,586 (GRCm39) V514I possibly damaging Het
Ddr1 A C 17: 35,993,556 (GRCm39) I852S probably benign Het
Dhrs1 G A 14: 55,977,404 (GRCm39) A238V possibly damaging Het
Echs1 A C 7: 139,688,031 (GRCm39) L258R probably damaging Het
Epha8 G T 4: 136,661,850 (GRCm39) H582N probably benign Het
Fhod3 G A 18: 25,189,452 (GRCm39) probably null Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr179 T C 11: 97,226,590 (GRCm39) D1855G possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ipo9 T C 1: 135,314,544 (GRCm39) N904S possibly damaging Het
Itih3 A G 14: 30,637,635 (GRCm39) V508A probably benign Het
Klhl14 T G 18: 21,691,220 (GRCm39) T437P possibly damaging Het
Krt5 T C 15: 101,619,185 (GRCm39) M268V probably benign Het
Lama4 T A 10: 38,973,194 (GRCm39) L1587Q probably damaging Het
Lhx4 T C 1: 155,581,013 (GRCm39) T171A possibly damaging Het
Lrfn2 A C 17: 49,377,376 (GRCm39) E152D probably damaging Het
Ltn1 A T 16: 87,229,230 (GRCm39) probably benign Het
Ly9 A T 1: 171,421,465 (GRCm39) D595E possibly damaging Het
Macf1 A G 4: 123,249,036 (GRCm39) L7165P probably damaging Het
Magi3 C T 3: 103,958,141 (GRCm39) G648D probably damaging Het
Mgll T A 6: 88,743,306 (GRCm39) C109S unknown Het
Micall2 T A 5: 139,703,254 (GRCm39) H194L probably damaging Het
Mindy4 T C 6: 55,255,223 (GRCm39) L567P probably benign Het
Mmp16 T A 4: 18,051,820 (GRCm39) Y270N probably damaging Het
Naa16 A T 14: 79,628,016 (GRCm39) F14I probably benign Het
Nme6 T G 9: 109,668,706 (GRCm39) F41V probably damaging Het
Npffr1 A G 10: 61,449,939 (GRCm39) N71S possibly damaging Het
Or1b1 C A 2: 36,995,523 (GRCm39) L46F probably damaging Het
Or1p4-ps1 T C 11: 74,207,949 (GRCm39) W33R probably damaging Het
Or4k41 A G 2: 111,279,967 (GRCm39) I161V probably benign Het
Pard3b T A 1: 62,677,026 (GRCm39) Y1186N probably damaging Het
Pou2f1 A T 1: 165,708,027 (GRCm39) S552T unknown Het
Ppp2r3c A T 12: 55,336,453 (GRCm39) L233Q possibly damaging Het
Prl8a1 G A 13: 27,766,069 (GRCm39) H9Y possibly damaging Het
Rnf135 C T 11: 80,074,957 (GRCm39) T72I probably benign Het
Rsf1 A T 7: 97,328,171 (GRCm39) I1058F Het
Slc39a6 A T 18: 24,729,386 (GRCm39) Y442* probably null Het
Slc44a2 G A 9: 21,253,153 (GRCm39) probably benign Het
Slc4a11 T G 2: 130,529,140 (GRCm39) S437R probably damaging Het
Spc24 G A 9: 21,668,994 (GRCm39) Q98* probably null Het
Spock3 T A 8: 63,404,986 (GRCm39) Y51* probably null Het
Sptbn1 A G 11: 30,067,800 (GRCm39) Y1805H probably benign Het
Tango6 A G 8: 107,468,845 (GRCm39) I780M probably benign Het
Tcerg1l C T 7: 137,999,260 (GRCm39) W41* probably null Het
Tdrd9 A G 12: 111,979,718 (GRCm39) Y401C probably benign Het
Tex47 A T 5: 7,355,115 (GRCm39) I99F probably damaging Het
Tlr9 G A 9: 106,099,834 (GRCm39) probably benign Het
Tmem209 T A 6: 30,497,942 (GRCm39) S276C possibly damaging Het
Tmprss11f A C 5: 86,687,618 (GRCm39) S97A possibly damaging Het
Top6bl A G 19: 4,699,721 (GRCm39) V494A possibly damaging Het
Ttc7 T A 17: 87,637,520 (GRCm39) M425K probably damaging Het
Ttn C T 2: 76,739,466 (GRCm39) G3737D unknown Het
Tyk2 T C 9: 21,027,463 (GRCm39) H503R probably benign Het
Unc13b A T 4: 43,176,484 (GRCm39) R2437S unknown Het
Uqcrc1 C T 9: 108,766,186 (GRCm39) R58C probably damaging Het
Vmn1r160 G A 7: 22,571,474 (GRCm39) V276I probably benign Het
Vmn2r112 A G 17: 22,837,612 (GRCm39) Y691C probably damaging Het
Vmn2r87 A C 10: 130,308,105 (GRCm39) I711S probably damaging Het
Vmn2r94 A G 17: 18,464,335 (GRCm39) S652P possibly damaging Het
Vps50 T A 6: 3,536,967 (GRCm39) C313S probably damaging Het
Xrcc5 T G 1: 72,382,190 (GRCm39) D455E possibly damaging Het
Zdhhc6 T A 19: 55,290,987 (GRCm39) probably benign Het
Zfp964 G A 8: 70,116,405 (GRCm39) G335D probably damaging 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
R4357:Camkv UTSW 9 107,825,145 (GRCm39) missense probably benign 0.27
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
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'- ACCCACTTTTGAAACCCTTTGG -3'
(R):5'- ACTAGGTTTTCCAGCTGTTCG -3'

Sequencing Primer
(F):5'- TTTGGGTCCCAAGGCCCTG -3'
(R):5'- TCCAGCTGTTCGGGAGAGAATG -3'
Posted On 2021-08-02