Incidental Mutation 'R9035:Camta1'
ID 687290
Institutional Source Beutler Lab
Gene Symbol Camta1
Ensembl Gene ENSMUSG00000014592
Gene Name calmodulin binding transcription activator 1
Synonyms 2310058O09Rik, 1810059M14Rik
MMRRC Submission 068864-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R9035 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 151143980-151946225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 151229159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 558 (S558A)
Ref Sequence ENSEMBL: ENSMUSP00000054804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000169423]
AlphaFold A2A891
Predicted Effect probably benign
Transcript: ENSMUST00000049790
AA Change: S558A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: S558A

DomainStartEndE-ValueType
CG-1 67 183 1.39e-91 SMART
low complexity region 550 583 N/A INTRINSIC
low complexity region 677 688 N/A INTRINSIC
Pfam:TIG 874 954 3e-13 PFAM
low complexity region 997 1030 N/A INTRINSIC
ANK 1066 1095 1.7e2 SMART
ANK 1111 1141 4.73e2 SMART
low complexity region 1301 1319 N/A INTRINSIC
IQ 1548 1564 2.38e2 SMART
IQ 1578 1600 5.42e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097774
AA Change: S558A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: S558A

DomainStartEndE-ValueType
CG-1 67 183 1.39e-91 SMART
low complexity region 550 583 N/A INTRINSIC
low complexity region 677 688 N/A INTRINSIC
Pfam:TIG 874 954 3.1e-11 PFAM
low complexity region 997 1030 N/A INTRINSIC
ANK 1066 1095 1.7e2 SMART
ANK 1111 1141 4.73e2 SMART
low complexity region 1301 1319 N/A INTRINSIC
IQ 1548 1570 5.45e1 SMART
IQ 1571 1593 5.42e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169423
AA Change: S558A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: S558A

DomainStartEndE-ValueType
CG-1 67 183 1.39e-91 SMART
low complexity region 550 583 N/A INTRINSIC
low complexity region 677 688 N/A INTRINSIC
Pfam:TIG 874 954 3.1e-11 PFAM
low complexity region 997 1030 N/A INTRINSIC
ANK 1066 1095 1.7e2 SMART
ANK 1111 1141 4.73e2 SMART
low complexity region 1301 1319 N/A INTRINSIC
IQ 1548 1564 2.38e2 SMART
IQ 1578 1600 5.42e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 99% (90/91)
MGI Phenotype PHENOTYPE: Global or nervous system deletion of this gene results in decreased body size, severe ataxia, progressive Purkinje cell degeneration, and cerebellar atrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,021,461 (GRCm39) L1083P probably damaging Het
Anxa7 G T 14: 20,510,460 (GRCm39) T356K probably damaging Het
Atg16l1 T C 1: 87,693,167 (GRCm39) probably null Het
Bptf A G 11: 106,963,842 (GRCm39) V1784A probably damaging Het
Cabs1 T C 5: 88,128,309 (GRCm39) V320A probably damaging Het
Ccdc180 A T 4: 45,906,922 (GRCm39) K466* probably null Het
Cdhr1 G A 14: 36,810,924 (GRCm39) P279L possibly damaging Het
Cenpe A G 3: 134,976,572 (GRCm39) N2393S probably benign Het
Cep104 T C 4: 154,063,462 (GRCm39) V8A probably benign Het
Chaf1a T A 17: 56,371,110 (GRCm39) V665E probably damaging Het
Clasp1 T A 1: 118,431,583 (GRCm39) D404E probably damaging Het
Clnk G A 5: 38,907,751 (GRCm39) T169I possibly damaging Het
Cnst G A 1: 179,437,587 (GRCm39) A384T possibly damaging Het
Ctnnd2 T A 15: 30,332,162 (GRCm39) M15K possibly damaging Het
Dlgap1 T A 17: 70,823,855 (GRCm39) L280Q possibly damaging Het
Dll1 T C 17: 15,588,959 (GRCm39) K572R probably benign Het
Dnai4 T A 4: 102,905,499 (GRCm39) K761* probably null Het
Dolk C A 2: 30,174,542 (GRCm39) W501L probably damaging Het
Ednrb G A 14: 104,080,665 (GRCm39) P83L probably benign Het
Edrf1 T C 7: 133,245,431 (GRCm39) W190R probably damaging Het
Epha5 T A 5: 84,255,886 (GRCm39) D468V probably damaging Het
Fat2 G T 11: 55,194,547 (GRCm39) P1164Q probably damaging Het
Fbln5 A T 12: 101,717,041 (GRCm39) V436E probably damaging Het
Fbxw10 G T 11: 62,758,449 (GRCm39) R558L possibly damaging Het
Fhod3 C A 18: 25,161,140 (GRCm39) S557R probably benign Het
Gmip A T 8: 70,273,298 (GRCm39) H863L probably damaging Het
Grm3 A T 5: 9,620,464 (GRCm39) I260N probably damaging Het
Gtpbp8 G A 16: 44,566,511 (GRCm39) P64S probably benign Het
Hand1 A C 11: 57,722,548 (GRCm39) M22R probably benign Het
Ift70b T C 2: 75,767,596 (GRCm39) T386A probably benign Het
Igsf21 A G 4: 139,884,782 (GRCm39) V58A probably damaging Het
Ikzf2 G A 1: 69,578,637 (GRCm39) R291* probably null Het
Itih4 C G 14: 30,618,650 (GRCm39) P687R probably benign Het
Kifc3 C T 8: 95,853,195 (GRCm39) D54N possibly damaging Het
Kmt2c G T 5: 25,524,010 (GRCm39) Q1739K probably damaging Het
Krtap4-1 G T 11: 99,518,708 (GRCm39) R101S unknown Het
L3mbtl2 T A 15: 81,560,744 (GRCm39) probably benign Het
Lcor A T 19: 41,573,399 (GRCm39) H718L probably benign Het
Lrrc73 T C 17: 46,565,293 (GRCm39) I8T probably damaging Het
Med19 C A 2: 84,516,532 (GRCm39) probably benign Het
Mgarp C T 3: 51,296,264 (GRCm39) S246N unknown Het
Mkrn2 T C 6: 115,594,681 (GRCm39) S414P possibly damaging Het
Mucl2 C T 15: 103,926,279 (GRCm39) R137H unknown Het
Myo1g A G 11: 6,464,916 (GRCm39) Y453H probably damaging Het
Nacc2 C A 2: 25,951,605 (GRCm39) R410L probably damaging Het
Ndufs3 C T 2: 90,725,217 (GRCm39) R210H probably damaging Het
Nlgn1 G T 3: 25,488,595 (GRCm39) T580K probably damaging Het
Nobox A T 6: 43,284,522 (GRCm39) D41E probably damaging Het
Nsd1 A G 13: 55,393,667 (GRCm39) R526G possibly damaging Het
Nt5e A G 9: 88,246,873 (GRCm39) M370V probably benign Het
Olfm5 T A 7: 103,803,099 (GRCm39) N455Y probably damaging Het
Or2g7 T C 17: 38,378,179 (GRCm39) V39A probably benign Het
Or4c101 T A 2: 88,389,863 (GRCm39) F6I probably damaging Het
Or52e19 T C 7: 102,959,186 (GRCm39) I86T probably damaging Het
Or8g50 G A 9: 39,648,886 (GRCm39) M258I probably benign Het
Or8k33 T A 2: 86,384,021 (GRCm39) Y149F probably damaging Het
Pcdhac2 T C 18: 37,277,758 (GRCm39) V246A probably damaging Het
Pclo A T 5: 14,763,192 (GRCm39) Q603H Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,573,176 (GRCm39) Q1910L probably damaging Het
Plg C A 17: 12,609,107 (GRCm39) Y137* probably null Het
Prkra T C 2: 76,460,856 (GRCm39) I281V probably benign Het
Prrc2c A C 1: 162,503,295 (GRCm39) L2722R possibly damaging Het
Prss12 A G 3: 123,279,149 (GRCm39) T409A probably damaging Het
Rnaseh1 A G 12: 28,708,290 (GRCm39) Q256R probably benign Het
Rpp14 T A 14: 8,083,772 (GRCm38) Y17N possibly damaging Het
Ryr1 A T 7: 28,790,422 (GRCm39) H1468Q probably damaging Het
Scp2 C T 4: 107,912,717 (GRCm39) V463M probably damaging Het
Sf3b4 C A 3: 96,080,381 (GRCm39) H43Q probably damaging Het
Sgpp1 T C 12: 75,782,238 (GRCm39) S34G probably benign Het
Shisa9 T A 16: 11,802,902 (GRCm39) I153N probably damaging Het
Sin3b C A 8: 73,450,092 (GRCm39) P3H unknown Het
Slc15a2 C A 16: 36,602,719 (GRCm39) K47N possibly damaging Het
Slc30a6 T A 17: 74,726,586 (GRCm39) F297L probably benign Het
Slc45a3 TGGGG TGGGGG 1: 131,909,187 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,476 (GRCm39) D88V probably benign Het
Tgs1 C A 4: 3,593,491 (GRCm39) Q460K probably benign Het
Tlr11 A T 14: 50,598,434 (GRCm39) D140V probably benign Het
Tmem215 T A 4: 40,473,945 (GRCm39) N7K probably damaging Het
Tmem245 T C 4: 56,922,384 (GRCm39) probably benign Het
Tnfsf10 G A 3: 27,389,379 (GRCm39) D147N probably benign Het
Tpm1 A G 9: 66,955,138 (GRCm39) L57P possibly damaging Het
Trappc10 T C 10: 78,043,723 (GRCm39) probably benign Het
Trmt9b C T 8: 36,978,954 (GRCm39) R186* probably null Het
Ttn T C 2: 76,593,061 (GRCm39) T20730A possibly damaging Het
Uap1 A T 1: 169,977,013 (GRCm39) Y395* probably null Het
Usp2 A T 9: 43,987,176 (GRCm39) D158V probably damaging Het
Usp30 A G 5: 114,243,877 (GRCm39) M149V probably benign Het
Vmn2r2 T C 3: 64,024,172 (GRCm39) N803S probably damaging Het
Vmn2r85 A G 10: 130,261,479 (GRCm39) V286A probably benign Het
Xdh T C 17: 74,217,222 (GRCm39) H682R probably benign Het
Zbed3 T A 13: 95,472,999 (GRCm39) L141Q probably damaging Het
Zfp623 T C 15: 75,820,162 (GRCm39) C373R possibly damaging Het
Other mutations in Camta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Camta1 APN 4 151,155,881 (GRCm39) critical splice donor site probably null
IGL00823:Camta1 APN 4 151,169,058 (GRCm39) missense probably benign 0.02
IGL01361:Camta1 APN 4 151,229,149 (GRCm39) missense probably damaging 1.00
IGL01523:Camta1 APN 4 151,229,507 (GRCm39) missense possibly damaging 0.73
IGL01730:Camta1 APN 4 151,147,302 (GRCm39) missense probably damaging 0.99
IGL02045:Camta1 APN 4 151,158,442 (GRCm39) splice site probably null
IGL02541:Camta1 APN 4 151,169,112 (GRCm39) missense probably benign 0.12
IGL02839:Camta1 APN 4 151,228,969 (GRCm39) missense probably damaging 1.00
IGL03012:Camta1 APN 4 151,537,756 (GRCm39) missense probably damaging 1.00
Bonus UTSW 4 151,222,832 (GRCm39) missense probably damaging 1.00
BB010:Camta1 UTSW 4 151,168,214 (GRCm39) missense probably damaging 0.99
BB020:Camta1 UTSW 4 151,168,214 (GRCm39) missense probably damaging 0.99
PIT4449001:Camta1 UTSW 4 151,216,043 (GRCm39) missense probably benign 0.00
R0136:Camta1 UTSW 4 151,163,426 (GRCm39) missense probably damaging 0.99
R0239:Camta1 UTSW 4 151,228,187 (GRCm39) missense probably damaging 1.00
R0239:Camta1 UTSW 4 151,228,187 (GRCm39) missense probably damaging 1.00
R0276:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0346:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0347:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0348:Camta1 UTSW 4 151,670,888 (GRCm39) missense possibly damaging 0.64
R0385:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0386:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0388:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0410:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0456:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0478:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0510:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0511:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0683:Camta1 UTSW 4 151,159,597 (GRCm39) missense probably damaging 1.00
R0724:Camta1 UTSW 4 151,162,349 (GRCm39) missense probably damaging 1.00
R0732:Camta1 UTSW 4 151,670,941 (GRCm39) critical splice acceptor site probably null
R1549:Camta1 UTSW 4 151,670,920 (GRCm39) missense probably damaging 1.00
R1670:Camta1 UTSW 4 151,164,228 (GRCm39) missense probably benign 0.00
R1704:Camta1 UTSW 4 151,159,681 (GRCm39) missense probably damaging 1.00
R1718:Camta1 UTSW 4 151,168,481 (GRCm39) missense probably benign 0.00
R1941:Camta1 UTSW 4 151,159,612 (GRCm39) missense probably damaging 1.00
R1967:Camta1 UTSW 4 151,173,430 (GRCm39) missense probably damaging 0.99
R1998:Camta1 UTSW 4 151,162,337 (GRCm39) missense probably damaging 1.00
R2081:Camta1 UTSW 4 151,228,699 (GRCm39) missense probably benign 0.24
R2104:Camta1 UTSW 4 151,537,751 (GRCm39) missense probably damaging 0.99
R2240:Camta1 UTSW 4 151,169,032 (GRCm39) missense possibly damaging 0.66
R4516:Camta1 UTSW 4 151,229,177 (GRCm39) missense possibly damaging 0.90
R4539:Camta1 UTSW 4 151,169,269 (GRCm39) missense probably benign 0.03
R4552:Camta1 UTSW 4 151,876,959 (GRCm39) missense probably damaging 0.96
R4610:Camta1 UTSW 4 151,169,284 (GRCm39) missense probably damaging 1.00
R4658:Camta1 UTSW 4 151,228,367 (GRCm39) missense probably damaging 1.00
R4725:Camta1 UTSW 4 151,232,953 (GRCm39) missense probably benign 0.11
R4786:Camta1 UTSW 4 151,374,496 (GRCm39) missense probably damaging 1.00
R4812:Camta1 UTSW 4 151,215,999 (GRCm39) missense probably null 0.25
R4840:Camta1 UTSW 4 151,228,864 (GRCm39) missense probably benign 0.23
R5038:Camta1 UTSW 4 151,229,926 (GRCm39) missense probably damaging 1.00
R5112:Camta1 UTSW 4 151,158,511 (GRCm39) missense probably damaging 1.00
R5251:Camta1 UTSW 4 151,248,341 (GRCm39) missense probably damaging 1.00
R5388:Camta1 UTSW 4 151,159,695 (GRCm39) missense probably damaging 1.00
R5487:Camta1 UTSW 4 151,229,211 (GRCm39) missense possibly damaging 0.73
R6343:Camta1 UTSW 4 151,164,306 (GRCm39) missense probably damaging 0.98
R6462:Camta1 UTSW 4 151,170,621 (GRCm39) missense probably damaging 0.98
R6550:Camta1 UTSW 4 151,222,832 (GRCm39) missense probably damaging 1.00
R6990:Camta1 UTSW 4 151,229,501 (GRCm39) missense probably damaging 0.97
R7165:Camta1 UTSW 4 151,169,157 (GRCm39) missense possibly damaging 0.63
R7190:Camta1 UTSW 4 151,232,980 (GRCm39) missense possibly damaging 0.57
R7215:Camta1 UTSW 4 151,229,194 (GRCm39) missense probably damaging 1.00
R7264:Camta1 UTSW 4 151,537,856 (GRCm39) missense probably damaging 1.00
R7403:Camta1 UTSW 4 151,537,752 (GRCm39) nonsense probably null
R7445:Camta1 UTSW 4 151,228,748 (GRCm39) missense possibly damaging 0.94
R7447:Camta1 UTSW 4 151,168,327 (GRCm39) missense probably benign 0.31
R7585:Camta1 UTSW 4 151,229,287 (GRCm39) missense probably damaging 1.00
R7751:Camta1 UTSW 4 151,232,863 (GRCm39) splice site probably null
R7881:Camta1 UTSW 4 151,920,333 (GRCm39) missense probably damaging 0.99
R7933:Camta1 UTSW 4 151,168,214 (GRCm39) missense probably damaging 0.99
R7960:Camta1 UTSW 4 151,232,990 (GRCm39) missense probably benign 0.01
R8057:Camta1 UTSW 4 151,228,489 (GRCm39) missense probably damaging 1.00
R8073:Camta1 UTSW 4 151,163,281 (GRCm39) missense probably damaging 1.00
R8241:Camta1 UTSW 4 151,168,282 (GRCm39) missense probably benign 0.00
R8247:Camta1 UTSW 4 151,159,721 (GRCm39) missense probably damaging 1.00
R8466:Camta1 UTSW 4 151,170,577 (GRCm39) nonsense probably null
R9332:Camta1 UTSW 4 151,228,474 (GRCm39) missense possibly damaging 0.95
R9358:Camta1 UTSW 4 151,222,881 (GRCm39) missense probably damaging 1.00
R9626:Camta1 UTSW 4 151,168,287 (GRCm39) missense probably damaging 0.99
R9649:Camta1 UTSW 4 151,216,004 (GRCm39) missense possibly damaging 0.82
X0063:Camta1 UTSW 4 151,229,704 (GRCm39) missense probably damaging 1.00
Z1176:Camta1 UTSW 4 151,228,842 (GRCm39) missense probably benign 0.06
Z1177:Camta1 UTSW 4 151,162,382 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACCGTGGGCATCACAAAG -3'
(R):5'- ATAATCCAAAGCAGGGCCAG -3'

Sequencing Primer
(F):5'- CTGACTCGCTTAGGCTGCTG -3'
(R):5'- GCAGGGCCAGACATACG -3'
Posted On 2021-11-19