Incidental Mutation 'R2081:Camta1'
ID 229471
Institutional Source Beutler Lab
Gene Symbol Camta1
Ensembl Gene ENSMUSG00000014592
Gene Name calmodulin binding transcription activator 1
Synonyms 2310058O09Rik, 1810059M14Rik
MMRRC Submission 040086-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R2081 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 151143980-151946225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151228699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 711 (E711G)
Ref Sequence ENSEMBL: ENSMUSP00000127916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000169423]
AlphaFold A2A891
Predicted Effect probably benign
Transcript: ENSMUST00000049790
AA Change: E711G

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: E711G

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: E711G

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: E711G

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 noncoding transcript
Transcript: ENSMUST00000143434
Predicted Effect probably benign
Transcript: ENSMUST00000169423
AA Change: E711G

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: E711G

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,211,085 (GRCm39) T28A possibly damaging Het
Actl11 G A 9: 107,807,396 (GRCm39) G573D probably benign Het
Adam39 T A 8: 41,279,879 (GRCm39) *757K probably null Het
Agpat4 T C 17: 12,370,771 (GRCm39) I38T possibly damaging Het
Ap3d1 A C 10: 80,568,770 (GRCm39) I36S probably damaging Het
Arhgap45 T C 10: 79,863,508 (GRCm39) F784L probably damaging Het
Atg5lrt T C 10: 95,972,601 (GRCm39) I46T possibly damaging Het
Atp10b T A 11: 43,092,955 (GRCm39) I430N probably damaging Het
Atrip T A 9: 108,901,807 (GRCm39) probably null Het
C2cd4b G T 9: 67,667,859 (GRCm39) R285L probably damaging Het
Clcn6 T C 4: 148,095,525 (GRCm39) Y685C probably damaging Het
Col18a1 T A 10: 76,890,019 (GRCm39) D1447V probably damaging Het
Crispld1 T A 1: 17,832,403 (GRCm39) V463D probably damaging Het
Crybg2 T G 4: 133,816,131 (GRCm39) F1612V possibly damaging Het
Dclk1 T C 3: 55,429,346 (GRCm39) probably null Het
Ddx46 G T 13: 55,821,829 (GRCm39) V834L probably benign Het
Dnah10 A G 5: 124,852,045 (GRCm39) D1734G possibly damaging Het
Dpep1 T C 8: 123,926,117 (GRCm39) V152A probably damaging Het
Ect2l T C 10: 18,041,275 (GRCm39) E301G probably damaging Het
Elf3 C T 1: 135,184,814 (GRCm39) C124Y probably benign Het
Eno2 A G 6: 124,740,088 (GRCm39) V316A probably damaging Het
Erap1 A G 13: 74,823,426 (GRCm39) E820G possibly damaging Het
Evpl A T 11: 116,125,092 (GRCm39) H123Q probably damaging Het
Fat2 T A 11: 55,200,503 (GRCm39) Y857F possibly damaging Het
Fbrsl1 T A 5: 110,519,491 (GRCm39) probably null Het
Fbxw7 A G 3: 84,881,820 (GRCm39) D432G probably damaging Het
Flt1 A T 5: 147,576,232 (GRCm39) L592Q probably damaging Het
Gm14496 T A 2: 181,642,272 (GRCm39) C648S probably damaging Het
Gm5150 A T 3: 16,045,109 (GRCm39) S39T probably benign Het
Gse1 C A 8: 121,293,219 (GRCm39) P177Q probably damaging Het
Heatr4 G A 12: 84,027,096 (GRCm39) R54W probably damaging Het
Hpgd C A 8: 56,760,677 (GRCm39) Q125K probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Mast2 A T 4: 116,187,671 (GRCm39) probably null Het
Mfsd11 A G 11: 116,752,381 (GRCm39) T177A possibly damaging Het
Mlx T C 11: 100,978,257 (GRCm39) S36P probably benign Het
Mlxipl T A 5: 135,142,492 (GRCm39) V102D probably damaging Het
Mms22l T C 4: 24,536,150 (GRCm39) Y540H probably damaging Het
Msc T C 1: 14,825,941 (GRCm39) D11G probably benign Het
Muc4 C G 16: 32,574,020 (GRCm39) S699R probably benign Het
Nckap1l T C 15: 103,405,881 (GRCm39) S1106P probably damaging Het
Obscn T C 11: 58,925,008 (GRCm39) E5703G possibly damaging Het
Or2ag1 A G 7: 106,313,405 (GRCm39) M161T probably benign Het
Pabpn1 A G 14: 55,133,115 (GRCm39) K38E probably damaging Het
Padi3 A T 4: 140,526,290 (GRCm39) L141Q probably damaging Het
Pakap G A 4: 57,855,927 (GRCm39) E419K possibly damaging Het
Pde3b A G 7: 114,122,657 (GRCm39) N742D probably benign Het
Pex1 T A 5: 3,674,132 (GRCm39) probably null Het
Pkd2 T C 5: 104,608,077 (GRCm39) V192A probably benign Het
Ppp6r2 T A 15: 89,166,332 (GRCm39) M750K probably benign Het
Prdm15 A T 16: 97,604,980 (GRCm39) Y783* probably null Het
Prox2 T A 12: 85,141,782 (GRCm39) Q140H probably damaging Het
Psg27 A T 7: 18,290,883 (GRCm39) I440K probably damaging Het
Pzp A G 6: 128,496,383 (GRCm39) M283T probably benign Het
Sec23a G A 12: 59,045,067 (GRCm39) Q192* probably null Het
Sh2b1 A G 7: 126,071,862 (GRCm39) S108P possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tkfc G A 19: 10,574,742 (GRCm39) A166V probably damaging Het
Tomm70a T C 16: 56,961,121 (GRCm39) V358A probably damaging Het
Trim47 A G 11: 115,997,239 (GRCm39) F505S probably damaging Het
Tti2 T C 8: 31,641,337 (GRCm39) F154L possibly damaging Het
Ubap2l C T 3: 89,946,271 (GRCm39) G111D possibly damaging Het
Usp9y A T Y: 1,381,277 (GRCm39) I848N possibly damaging Het
Veph1 T C 3: 65,968,523 (GRCm39) Y740C probably damaging Het
Vmn2r114 T A 17: 23,510,083 (GRCm39) H799L possibly damaging Het
Wdr31 T A 4: 62,374,180 (GRCm39) M270L probably benign Het
Zfp26 A G 9: 20,347,913 (GRCm39) S884P probably benign Het
Zswim6 T A 13: 107,909,930 (GRCm39) noncoding transcript 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
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
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'- AGGTCTGAGAACTGATTGCTG -3'
(R):5'- TGATGCCCACGGTGAAAACG -3'

Sequencing Primer
(F):5'- AACTGATTGCTGAAGGAAATGTC -3'
(R):5'- TGAAAACGGAGGCCTCGTC -3'
Posted On 2014-09-17