Incidental Mutation 'R8057:Camta1'
ID 619438
Institutional Source Beutler Lab
Gene Symbol Camta1
Ensembl Gene ENSMUSG00000014592
Gene Name calmodulin binding transcription activator 1
Synonyms 2310058O09Rik, 1810059M14Rik
MMRRC Submission 067494-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R8057 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 151143980-151946225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151228489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 781 (D781G)
Ref Sequence ENSEMBL: ENSMUSP00000054804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000169423]
AlphaFold A2A891
Predicted Effect probably damaging
Transcript: ENSMUST00000049790
AA Change: D781G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: D781G

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 damaging
Transcript: ENSMUST00000097774
AA Change: D781G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: D781G

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 damaging
Transcript: ENSMUST00000169423
AA Change: D781G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: D781G

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (81/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 159,902,826 (GRCm39) L32P probably damaging Het
4930563M21Rik T C 9: 55,916,564 (GRCm39) T38A unknown Het
Abcb6 T C 1: 75,151,002 (GRCm39) N563D probably damaging Het
Ak4 T C 4: 101,317,850 (GRCm39) F140S probably damaging Het
Arhgap27 T A 11: 103,229,519 (GRCm39) R296S probably damaging Het
Atxn7l1 A C 12: 33,376,001 (GRCm39) K98N probably damaging Het
Bex6 G T 16: 32,005,224 (GRCm39) D11Y probably damaging Het
Capn7 A G 14: 31,092,936 (GRCm39) D800G probably benign Het
Carmil2 G A 8: 106,419,008 (GRCm39) V716I probably benign Het
Cdk5 C A 5: 24,625,782 (GRCm39) D144Y probably damaging Het
Cep85 T C 4: 133,880,925 (GRCm39) probably benign Het
Chd5 T A 4: 152,450,829 (GRCm39) L651Q probably damaging Het
Cimap1d T A 10: 79,475,835 (GRCm39) H243L probably damaging Het
Clcn7 C T 17: 25,368,233 (GRCm39) Q261* probably null Het
Cntnap2 T A 6: 46,324,079 (GRCm39) F576Y probably damaging Het
Col11a1 G A 3: 113,925,263 (GRCm39) G815D unknown Het
Col4a4 T A 1: 82,501,591 (GRCm39) R387S unknown Het
Cse1l T A 2: 166,781,845 (GRCm39) V663D probably damaging Het
Csf2rb2 G T 15: 78,169,206 (GRCm39) Q650K probably damaging Het
Ctnnd2 A G 15: 30,847,497 (GRCm39) D696G possibly damaging Het
Dnah7c T A 1: 46,728,112 (GRCm39) C2937S possibly damaging Het
Epha10 A T 4: 124,796,476 (GRCm39) Q395L Het
Fam167a T A 14: 63,689,769 (GRCm39) V22E probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Gabra4 A G 5: 71,781,295 (GRCm39) I372T probably benign Het
Gpt A G 15: 76,580,972 (GRCm39) probably benign Het
H2-K2 C T 17: 34,215,833 (GRCm39) G336D possibly damaging Het
Hapstr1 C T 16: 8,648,232 (GRCm39) probably benign Het
Hoxd8 T C 2: 74,535,070 (GRCm39) probably null Het
Ilrun C T 17: 27,986,863 (GRCm39) A288T unknown Het
Kdm5d T G Y: 927,355 (GRCm39) D658E possibly damaging Het
Krt25 G A 11: 99,208,169 (GRCm39) T353M probably benign Het
Lonp2 T C 8: 87,440,717 (GRCm39) L778P probably damaging Het
Lrrc66 G A 5: 73,764,875 (GRCm39) Q723* probably null Het
Mak T A 13: 41,202,813 (GRCm39) I212F probably damaging Het
Mastl T A 2: 23,023,566 (GRCm39) R386W possibly damaging Het
Mis18bp1 A G 12: 65,195,673 (GRCm39) I697T possibly damaging Het
Nek5 G A 8: 22,578,922 (GRCm39) T415I probably benign Het
Neu3 T A 7: 99,463,435 (GRCm39) N96I probably benign Het
Nxph2 T C 2: 23,290,107 (GRCm39) V153A possibly damaging Het
Or10a3 A T 7: 108,480,571 (GRCm39) F81I probably damaging Het
Or5b102 G A 19: 13,040,638 (GRCm39) probably benign Het
Or8b4 A G 9: 37,830,460 (GRCm39) D169G probably benign Het
Otogl T C 10: 107,644,476 (GRCm39) T1257A probably benign Het
Pcdh10 G A 3: 45,333,694 (GRCm39) V3M probably benign Het
Pitpnm1 G A 19: 4,162,145 (GRCm39) R1017Q probably null Het
Plcb3 A C 19: 6,932,463 (GRCm39) H1065Q probably benign Het
Plcb3 A T 19: 6,936,267 (GRCm39) M752K probably damaging Het
Plch1 T C 3: 63,605,557 (GRCm39) E1449G probably benign Het
Plekha4 T A 7: 45,198,695 (GRCm39) C573S probably benign Het
Plin2 T C 4: 86,575,638 (GRCm39) I304V possibly damaging Het
Pnp2 G A 14: 51,201,838 (GRCm39) V275I probably benign Het
Polr1a G A 6: 71,908,644 (GRCm39) A490T possibly damaging Het
Ppp1r12b A G 1: 134,883,354 (GRCm39) F56S probably damaging Het
Ptk2 GA G 15: 73,170,048 (GRCm39) probably null Het
Rb1cc1 C A 1: 6,315,443 (GRCm39) R473S probably damaging Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rdx T C 9: 51,976,946 (GRCm39) V65A probably damaging Het
Rpl27rt T C 18: 34,870,582 (GRCm39) F39L probably damaging Het
Rps6ka5 A G 12: 100,540,055 (GRCm39) probably null Het
Samd5 C T 10: 9,550,641 (GRCm39) V23M probably damaging Het
Scn9a T G 2: 66,345,774 (GRCm39) R1117S probably benign Het
Scrn1 T A 6: 54,497,758 (GRCm39) I278L probably benign Het
Sec31b G T 19: 44,507,804 (GRCm39) P747T probably damaging Het
Sipa1l2 A T 8: 126,195,269 (GRCm39) V823E probably damaging Het
Slc2a13 T C 15: 91,400,619 (GRCm39) N201S probably damaging Het
Slc30a3 C A 5: 31,247,395 (GRCm39) probably benign Het
Snx31 C A 15: 36,523,606 (GRCm39) V359F probably damaging Het
Sstr2 A G 11: 113,515,099 (GRCm39) E6G probably benign Het
Stc2 C A 11: 31,317,806 (GRCm39) E72* probably null Het
Tead1 C T 7: 112,358,721 (GRCm39) P11L probably benign Het
Tmem51 T C 4: 141,759,059 (GRCm39) T230A probably damaging Het
Tmem63c A T 12: 87,118,972 (GRCm39) K301* probably null Het
Tns3 G C 11: 8,442,773 (GRCm39) A530G probably benign Het
Trat1 T C 16: 48,562,600 (GRCm39) D70G probably damaging Het
Trex1 T A 9: 108,887,397 (GRCm39) E198V probably damaging Het
Ttn T G 2: 76,570,072 (GRCm39) R26940S probably damaging Het
Uba2 T C 7: 33,867,835 (GRCm39) K34R possibly damaging Het
Vps13d A C 4: 144,701,753 (GRCm39) M4376R Het
Zfp157 C A 5: 138,454,336 (GRCm39) T178K probably damaging Het
Zfp318 T A 17: 46,710,692 (GRCm39) V805D 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
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
R9035:Camta1 UTSW 4 151,229,159 (GRCm39) missense probably benign 0.03
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'- GAGACCACCTCTGCAACATG -3'
(R):5'- TTACCATGGAGACCTCACAGGC -3'

Sequencing Primer
(F):5'- CATGTAGGCCATGGTGCTG -3'
(R):5'- CTGAAGGGAATGAGGTCCTCC -3'
Posted On 2020-01-23