Incidental Mutation 'R9035:Camta1'
ID 687290
Institutional Source Beutler Lab
Gene Symbol Camta1
Ensembl Gene ENSMUSG00000014592
Gene Name calmodulin binding transcription activator 1
Synonyms 1810059M14Rik, 2310058O09Rik
MMRRC Submission 068864-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.692) question?
Stock # R9035 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 150917322-151861876 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 151144702 bp (GRCm38)
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
6430573F11Rik C T 8: 36,511,800 (GRCm38) R186* probably null Het
Abca9 A G 11: 110,130,635 (GRCm38) L1083P probably damaging Het
Anxa7 G T 14: 20,460,392 (GRCm38) T356K probably damaging Het
Atg16l1 T C 1: 87,765,445 (GRCm38) probably null Het
Bptf A G 11: 107,073,016 (GRCm38) V1784A probably damaging Het
Cabs1 T C 5: 87,980,450 (GRCm38) V320A probably damaging Het
Ccdc180 A T 4: 45,906,922 (GRCm38) K466* probably null Het
Cdhr1 G A 14: 37,088,967 (GRCm38) P279L possibly damaging Het
Cenpe A G 3: 135,270,811 (GRCm38) N2393S probably benign Het
Cep104 T C 4: 153,979,005 (GRCm38) V8A probably benign Het
Chaf1a T A 17: 56,064,110 (GRCm38) V665E probably damaging Het
Clasp1 T A 1: 118,503,853 (GRCm38) D404E probably damaging Het
Clnk G A 5: 38,750,408 (GRCm38) T169I possibly damaging Het
Cnst G A 1: 179,610,022 (GRCm38) A384T possibly damaging Het
Ctnnd2 T A 15: 30,332,016 (GRCm38) M15K possibly damaging Het
Dlgap1 T A 17: 70,516,860 (GRCm38) L280Q possibly damaging Het
Dll1 T C 17: 15,368,697 (GRCm38) K572R probably benign Het
Dolk C A 2: 30,284,530 (GRCm38) W501L probably damaging Het
Ednrb G A 14: 103,843,229 (GRCm38) P83L probably benign Het
Edrf1 T C 7: 133,643,702 (GRCm38) W190R probably damaging Het
Epha5 T A 5: 84,108,027 (GRCm38) D468V probably damaging Het
Fat2 G T 11: 55,303,721 (GRCm38) P1164Q probably damaging Het
Fbln5 A T 12: 101,750,782 (GRCm38) V436E probably damaging Het
Fbxw10 G T 11: 62,867,623 (GRCm38) R558L possibly damaging Het
Fhod3 C A 18: 25,028,083 (GRCm38) S557R probably benign Het
Gm340 A T 19: 41,584,960 (GRCm38) H718L probably benign Het
Gmip A T 8: 69,820,648 (GRCm38) H863L probably damaging Het
Grm3 A T 5: 9,570,464 (GRCm38) I260N probably damaging Het
Gtpbp8 G A 16: 44,746,148 (GRCm38) P64S probably benign Het
Hand1 A C 11: 57,831,722 (GRCm38) M22R probably benign Het
Igsf21 A G 4: 140,157,471 (GRCm38) V58A probably damaging Het
Ikzf2 G A 1: 69,539,478 (GRCm38) R291* probably null Het
Itih4 C G 14: 30,896,693 (GRCm38) P687R probably benign Het
Kifc3 C T 8: 95,126,567 (GRCm38) D54N possibly damaging Het
Kmt2c G T 5: 25,319,012 (GRCm38) Q1739K probably damaging Het
Krtap4-1 G T 11: 99,627,882 (GRCm38) R101S unknown Het
L3mbtl2 T A 15: 81,676,543 (GRCm38) probably benign Het
Lrrc73 T C 17: 46,254,367 (GRCm38) I8T probably damaging Het
Med19 C A 2: 84,686,188 (GRCm38) probably benign Het
Mgarp C T 3: 51,388,843 (GRCm38) S246N unknown Het
Mkrn2 T C 6: 115,617,720 (GRCm38) S414P possibly damaging Het
Mucl2 C T 15: 103,896,013 (GRCm38) R137H unknown Het
Myo1g A G 11: 6,514,916 (GRCm38) Y453H probably damaging Het
Nacc2 C A 2: 26,061,593 (GRCm38) R410L probably damaging Het
Ndufs3 C T 2: 90,894,873 (GRCm38) R210H probably damaging Het
Nlgn1 G T 3: 25,434,431 (GRCm38) T580K probably damaging Het
Nobox A T 6: 43,307,588 (GRCm38) D41E probably damaging Het
Nsd1 A G 13: 55,245,854 (GRCm38) R526G possibly damaging Het
Nt5e A G 9: 88,364,820 (GRCm38) M370V probably benign Het
Olfm5 T A 7: 104,153,892 (GRCm38) N455Y probably damaging Het
Olfr1080 T A 2: 86,553,677 (GRCm38) Y149F probably damaging Het
Olfr1188 T A 2: 88,559,519 (GRCm38) F6I probably damaging Het
Olfr130 T C 17: 38,067,288 (GRCm38) V39A probably benign Het
Olfr150 G A 9: 39,737,590 (GRCm38) M258I probably benign Het
Olfr596 T C 7: 103,309,979 (GRCm38) I86T probably damaging Het
Pcdhac2 T C 18: 37,144,705 (GRCm38) V246A probably damaging Het
Pclo A T 5: 14,713,178 (GRCm38) Q603H Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 109,624,195 (GRCm38) probably benign Het
Pkhd1 T A 1: 20,502,952 (GRCm38) Q1910L probably damaging Het
Plg C A 17: 12,390,220 (GRCm38) Y137* probably null Het
Prkra T C 2: 76,630,512 (GRCm38) I281V probably benign Het
Prrc2c A C 1: 162,675,726 (GRCm38) L2722R possibly damaging Het
Prss12 A G 3: 123,485,500 (GRCm38) T409A probably damaging Het
Rnaseh1 A G 12: 28,658,291 (GRCm38) Q256R probably benign Het
Rpp14 T A 14: 8,083,772 (GRCm38) Y17N possibly damaging Het
Ryr1 A T 7: 29,090,997 (GRCm38) H1468Q probably damaging Het
Scp2 C T 4: 108,055,520 (GRCm38) V463M probably damaging Het
Sf3b4 C A 3: 96,173,065 (GRCm38) H43Q probably damaging Het
Sgpp1 T C 12: 75,735,464 (GRCm38) S34G probably benign Het
Shisa9 T A 16: 11,985,038 (GRCm38) I153N probably damaging Het
Sin3b C A 8: 72,723,464 (GRCm38) P3H unknown Het
Slc15a2 C A 16: 36,782,357 (GRCm38) K47N possibly damaging Het
Slc30a6 T A 17: 74,419,591 (GRCm38) F297L probably benign Het
Slc45a3 TGGGG TGGGGG 1: 131,981,449 (GRCm38) probably null Het
Slfn4 A T 11: 83,186,650 (GRCm38) D88V probably benign Het
Tgs1 C A 4: 3,593,491 (GRCm38) Q460K probably benign Het
Tlr11 A T 14: 50,360,977 (GRCm38) D140V probably benign Het
Tmem215 T A 4: 40,473,945 (GRCm38) N7K probably damaging Het
Tmem245 T C 4: 56,922,384 (GRCm38) probably benign Het
Tnfsf10 G A 3: 27,335,230 (GRCm38) D147N probably benign Het
Tpm1 A G 9: 67,047,856 (GRCm38) L57P possibly damaging Het
Trappc10 T C 10: 78,207,889 (GRCm38) probably benign Het
Ttc30b T C 2: 75,937,252 (GRCm38) T386A probably benign Het
Ttn T C 2: 76,762,717 (GRCm38) T20730A possibly damaging Het
Uap1 A T 1: 170,149,444 (GRCm38) Y395* probably null Het
Usp2 A T 9: 44,075,879 (GRCm38) D158V probably damaging Het
Usp30 A G 5: 114,105,816 (GRCm38) M149V probably benign Het
Vmn2r2 T C 3: 64,116,751 (GRCm38) N803S probably damaging Het
Vmn2r85 A G 10: 130,425,610 (GRCm38) V286A probably benign Het
Wdr78 T A 4: 103,048,302 (GRCm38) K761* probably null Het
Xdh T C 17: 73,910,227 (GRCm38) H682R probably benign Het
Zbed3 T A 13: 95,336,491 (GRCm38) L141Q probably damaging Het
Zfp623 T C 15: 75,948,313 (GRCm38) C373R possibly damaging Het
Other mutations in Camta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Camta1 APN 4 151,071,424 (GRCm38) critical splice donor site probably null
IGL00823:Camta1 APN 4 151,084,601 (GRCm38) missense probably benign 0.02
IGL01361:Camta1 APN 4 151,144,692 (GRCm38) missense probably damaging 1.00
IGL01523:Camta1 APN 4 151,145,050 (GRCm38) missense possibly damaging 0.73
IGL01730:Camta1 APN 4 151,062,845 (GRCm38) missense probably damaging 0.99
IGL02045:Camta1 APN 4 151,073,985 (GRCm38) splice site probably null
IGL02541:Camta1 APN 4 151,084,655 (GRCm38) missense probably benign 0.12
IGL02839:Camta1 APN 4 151,144,512 (GRCm38) missense probably damaging 1.00
IGL03012:Camta1 APN 4 151,453,299 (GRCm38) missense probably damaging 1.00
Bonus UTSW 4 151,138,375 (GRCm38) missense probably damaging 1.00
BB010:Camta1 UTSW 4 151,083,757 (GRCm38) missense probably damaging 0.99
BB020:Camta1 UTSW 4 151,083,757 (GRCm38) missense probably damaging 0.99
PIT4449001:Camta1 UTSW 4 151,131,586 (GRCm38) missense probably benign 0.00
R0136:Camta1 UTSW 4 151,078,969 (GRCm38) missense probably damaging 0.99
R0239:Camta1 UTSW 4 151,143,730 (GRCm38) missense probably damaging 1.00
R0239:Camta1 UTSW 4 151,143,730 (GRCm38) missense probably damaging 1.00
R0276:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0346:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0347:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0348:Camta1 UTSW 4 151,586,431 (GRCm38) missense possibly damaging 0.64
R0385:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0386:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0388:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0410:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0456:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0478:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0510:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0511:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0683:Camta1 UTSW 4 151,075,140 (GRCm38) missense probably damaging 1.00
R0724:Camta1 UTSW 4 151,077,892 (GRCm38) missense probably damaging 1.00
R0732:Camta1 UTSW 4 151,586,484 (GRCm38) critical splice acceptor site probably null
R1549:Camta1 UTSW 4 151,586,463 (GRCm38) missense probably damaging 1.00
R1670:Camta1 UTSW 4 151,079,771 (GRCm38) missense probably benign 0.00
R1704:Camta1 UTSW 4 151,075,224 (GRCm38) missense probably damaging 1.00
R1718:Camta1 UTSW 4 151,084,024 (GRCm38) missense probably benign 0.00
R1941:Camta1 UTSW 4 151,075,155 (GRCm38) missense probably damaging 1.00
R1967:Camta1 UTSW 4 151,088,973 (GRCm38) missense probably damaging 0.99
R1998:Camta1 UTSW 4 151,077,880 (GRCm38) missense probably damaging 1.00
R2081:Camta1 UTSW 4 151,144,242 (GRCm38) missense probably benign 0.24
R2104:Camta1 UTSW 4 151,453,294 (GRCm38) missense probably damaging 0.99
R2240:Camta1 UTSW 4 151,084,575 (GRCm38) missense possibly damaging 0.66
R4516:Camta1 UTSW 4 151,144,720 (GRCm38) missense possibly damaging 0.90
R4539:Camta1 UTSW 4 151,084,812 (GRCm38) missense probably benign 0.03
R4552:Camta1 UTSW 4 151,792,502 (GRCm38) missense probably damaging 0.96
R4610:Camta1 UTSW 4 151,084,827 (GRCm38) missense probably damaging 1.00
R4658:Camta1 UTSW 4 151,143,910 (GRCm38) missense probably damaging 1.00
R4725:Camta1 UTSW 4 151,148,496 (GRCm38) missense probably benign 0.11
R4786:Camta1 UTSW 4 151,290,039 (GRCm38) missense probably damaging 1.00
R4812:Camta1 UTSW 4 151,131,542 (GRCm38) missense probably null 0.25
R4840:Camta1 UTSW 4 151,144,407 (GRCm38) missense probably benign 0.23
R5038:Camta1 UTSW 4 151,145,469 (GRCm38) missense probably damaging 1.00
R5112:Camta1 UTSW 4 151,074,054 (GRCm38) missense probably damaging 1.00
R5251:Camta1 UTSW 4 151,163,884 (GRCm38) missense probably damaging 1.00
R5388:Camta1 UTSW 4 151,075,238 (GRCm38) missense probably damaging 1.00
R5487:Camta1 UTSW 4 151,144,754 (GRCm38) missense possibly damaging 0.73
R6343:Camta1 UTSW 4 151,079,849 (GRCm38) missense probably damaging 0.98
R6462:Camta1 UTSW 4 151,086,164 (GRCm38) missense probably damaging 0.98
R6550:Camta1 UTSW 4 151,138,375 (GRCm38) missense probably damaging 1.00
R6990:Camta1 UTSW 4 151,145,044 (GRCm38) missense probably damaging 0.97
R7165:Camta1 UTSW 4 151,084,700 (GRCm38) missense possibly damaging 0.63
R7190:Camta1 UTSW 4 151,148,523 (GRCm38) missense possibly damaging 0.57
R7215:Camta1 UTSW 4 151,144,737 (GRCm38) missense probably damaging 1.00
R7264:Camta1 UTSW 4 151,453,399 (GRCm38) missense probably damaging 1.00
R7403:Camta1 UTSW 4 151,453,295 (GRCm38) nonsense probably null
R7445:Camta1 UTSW 4 151,144,291 (GRCm38) missense possibly damaging 0.94
R7447:Camta1 UTSW 4 151,083,870 (GRCm38) missense probably benign 0.31
R7585:Camta1 UTSW 4 151,144,830 (GRCm38) missense probably damaging 1.00
R7751:Camta1 UTSW 4 151,148,406 (GRCm38) splice site probably null
R7881:Camta1 UTSW 4 151,835,876 (GRCm38) missense probably damaging 0.99
R7933:Camta1 UTSW 4 151,083,757 (GRCm38) missense probably damaging 0.99
R7960:Camta1 UTSW 4 151,148,533 (GRCm38) missense probably benign 0.01
R8057:Camta1 UTSW 4 151,144,032 (GRCm38) missense probably damaging 1.00
R8073:Camta1 UTSW 4 151,078,824 (GRCm38) missense probably damaging 1.00
R8241:Camta1 UTSW 4 151,083,825 (GRCm38) missense probably benign 0.00
R8247:Camta1 UTSW 4 151,075,264 (GRCm38) missense probably damaging 1.00
R8466:Camta1 UTSW 4 151,086,120 (GRCm38) nonsense probably null
R9332:Camta1 UTSW 4 151,144,017 (GRCm38) missense possibly damaging 0.95
R9358:Camta1 UTSW 4 151,138,424 (GRCm38) missense probably damaging 1.00
R9626:Camta1 UTSW 4 151,083,830 (GRCm38) missense probably damaging 0.99
R9649:Camta1 UTSW 4 151,131,547 (GRCm38) missense possibly damaging 0.82
X0063:Camta1 UTSW 4 151,145,247 (GRCm38) missense probably damaging 1.00
Z1176:Camta1 UTSW 4 151,144,385 (GRCm38) missense probably benign 0.06
Z1177:Camta1 UTSW 4 151,077,925 (GRCm38) 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