Incidental Mutation 'R0410:Camta1'
ID 36567
Institutional Source Beutler Lab
Gene Symbol Camta1
Ensembl Gene ENSMUSG00000014592
Gene Name calmodulin binding transcription activator 1
Synonyms 2310058O09Rik, 1810059M14Rik
MMRRC Submission 038612-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R0410 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 151143980-151946225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 151159597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1614 (R1614L)
Ref Sequence ENSEMBL: ENSMUSP00000095381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000105668] [ENSMUST00000105670] [ENSMUST00000140030] [ENSMUST00000169423]
AlphaFold A2A891
Predicted Effect probably benign
Transcript: ENSMUST00000049790
AA Change: R1621L

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: R1621L

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: R1614L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: R1614L

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: ENSMUST00000105668
AA Change: R530L

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101293
Gene: ENSMUSG00000014592
AA Change: R530L

DomainStartEndE-ValueType
low complexity region 19 52 N/A INTRINSIC
ANK 88 117 1.7e2 SMART
ANK 133 163 4.73e2 SMART
Blast:ANK 167 197 6e-10 BLAST
IQ 457 473 2.38e2 SMART
IQ 487 509 5.42e0 SMART
Pfam:IQ 512 527 5.1e-4 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105670
AA Change: R523L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101295
Gene: ENSMUSG00000014592
AA Change: R523L

DomainStartEndE-ValueType
low complexity region 19 52 N/A INTRINSIC
ANK 88 117 1.7e2 SMART
ANK 133 163 4.73e2 SMART
Blast:ANK 167 197 5e-10 BLAST
IQ 457 479 5.45e1 SMART
IQ 480 502 5.42e0 SMART
Pfam:IQ 505 520 5.1e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140030
AA Change: R177L

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119067
Gene: ENSMUSG00000014592
AA Change: R177L

DomainStartEndE-ValueType
IQ 111 133 5.45e1 SMART
IQ 134 156 5.42e0 SMART
Pfam:IQ 159 174 8.5e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169423
AA Change: R1621L

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: R1621L

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,606,268 (GRCm39) D170G probably benign Het
Actrt3 C T 3: 30,652,273 (GRCm39) G274S probably benign Het
Adamts18 G T 8: 114,440,990 (GRCm39) C889* probably null Het
Alkbh6 C T 7: 30,012,031 (GRCm39) P104S probably damaging Het
Alms1 A T 6: 85,564,785 (GRCm39) E53V unknown Het
Ap3s1 T C 18: 46,912,279 (GRCm39) C100R probably benign Het
Apbb2 G T 5: 66,609,149 (GRCm39) A166E possibly damaging Het
Asph A G 4: 9,595,415 (GRCm39) V174A probably damaging Het
Cacna2d2 T C 9: 107,401,819 (GRCm39) L758P probably damaging Het
Cacng5 A G 11: 107,768,195 (GRCm39) S271P possibly damaging Het
Chn1 A T 2: 73,462,094 (GRCm39) C236* probably null Het
Coro1b T C 19: 4,199,362 (GRCm39) V7A probably damaging Het
Dhx16 A G 17: 36,201,859 (GRCm39) Y962C probably damaging Het
Dixdc1 T C 9: 50,596,153 (GRCm39) D152G probably damaging Het
Dmrt1 T C 19: 25,483,467 (GRCm39) S84P probably damaging Het
Dnah10 A G 5: 124,832,799 (GRCm39) D844G probably benign Het
Edn3 C T 2: 174,603,482 (GRCm39) P77S possibly damaging Het
Efcab7 T C 4: 99,735,487 (GRCm39) probably null Het
Fam83g A G 11: 61,594,218 (GRCm39) D584G probably damaging Het
Fbxo7 T A 10: 85,865,102 (GRCm39) probably null Het
Ffar1 T C 7: 30,560,055 (GRCm39) T281A probably benign Het
Fntb T C 12: 76,934,826 (GRCm39) V201A probably benign Het
Gart C A 16: 91,438,215 (GRCm39) A101S probably damaging Het
Gbp9 T C 5: 105,232,939 (GRCm39) T238A probably benign Het
Hectd4 T C 5: 121,424,329 (GRCm39) L663S possibly damaging Het
Helz2 A T 2: 180,872,386 (GRCm39) V2512E probably damaging Het
Hip1 A C 5: 135,487,009 (GRCm39) L66R probably damaging Het
Iigp1 T A 18: 60,523,375 (GRCm39) D164E probably benign Het
Kcnip3 A G 2: 127,301,986 (GRCm39) S193P probably damaging Het
Klra9 T A 6: 130,165,707 (GRCm39) T103S probably benign Het
Meis2 T C 2: 115,694,709 (GRCm39) *471W probably null Het
Minar1 T G 9: 89,484,256 (GRCm39) E380D probably damaging Het
Mrpl21 T C 19: 3,334,792 (GRCm39) S45P possibly damaging Het
Mterf1b A G 5: 4,246,488 (GRCm39) E43G probably benign Het
Mycbp2 G T 14: 103,372,569 (GRCm39) S4092R probably damaging Het
Nfatc3 A T 8: 106,822,828 (GRCm39) N538I probably damaging Het
Nphp4 T C 4: 152,641,503 (GRCm39) C1095R probably benign Het
Npm2 T A 14: 70,889,993 (GRCm39) T13S probably benign Het
Or1m1 C A 9: 18,666,137 (GRCm39) V265F probably damaging Het
Or7e176 T A 9: 20,171,797 (GRCm39) F220L probably benign Het
Plcg2 A T 8: 118,342,112 (GRCm39) I1158F probably damaging Het
Popdc3 T C 10: 45,193,829 (GRCm39) V210A possibly damaging Het
Postn T C 3: 54,292,698 (GRCm39) L755S possibly damaging Het
Prdx6b T C 2: 80,123,373 (GRCm39) F61L probably damaging Het
Rars1 C T 11: 35,716,847 (GRCm39) R223H probably damaging Het
Robo1 G A 16: 72,768,872 (GRCm39) G479D possibly damaging Het
Scaf4 A G 16: 90,057,058 (GRCm39) Y98H unknown Het
Scn4a A G 11: 106,214,775 (GRCm39) I1274T probably damaging Het
Senp2 G T 16: 21,828,444 (GRCm39) R18L probably damaging Het
Six5 T A 7: 18,830,381 (GRCm39) V336D probably damaging Het
Slc31a2 G A 4: 62,210,890 (GRCm39) E8K probably benign Het
Slc4a7 A T 14: 14,738,299 (GRCm38) T184S probably damaging Het
Slco2a1 T A 9: 102,950,513 (GRCm39) probably null Het
Smr3a T G 5: 88,156,070 (GRCm39) probably benign Het
Sqor T C 2: 122,629,442 (GRCm39) V100A probably benign Het
Srarp T C 4: 141,160,459 (GRCm39) N125D possibly damaging Het
Stam T C 2: 14,143,802 (GRCm39) V364A probably benign Het
Tgm5 T C 2: 120,908,039 (GRCm39) I46V possibly damaging Het
Tie1 A T 4: 118,337,766 (GRCm39) V443E probably damaging Het
Tipin T C 9: 64,195,397 (GRCm39) M1T probably null Het
Tnc T C 4: 63,925,931 (GRCm39) T950A probably benign Het
Tns3 T C 11: 8,385,852 (GRCm39) D1382G probably benign Het
Tor1aip1 A G 1: 155,911,686 (GRCm39) V99A possibly damaging Het
Trim16 C T 11: 62,711,297 (GRCm39) probably benign Het
Ttn G T 2: 76,618,701 (GRCm39) N14448K possibly damaging Het
Ttn C T 2: 76,717,204 (GRCm39) probably benign Het
Tut4 A G 4: 108,343,752 (GRCm39) R255G probably benign Het
Vmn1r23 A G 6: 57,903,175 (GRCm39) I201T probably benign Het
Vmn2r13 T A 5: 109,321,679 (GRCm39) K339N probably benign Het
Yap1 A G 9: 8,001,468 (GRCm39) Y173H probably 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
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
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'- AATCACTGAGCCCTGAGCCCTATG -3'
(R):5'- ACTGGAAGCTTGCTGTTGGCATC -3'

Sequencing Primer
(F):5'- CTCTCCTGAAGTAATTAGGGAGTC -3'
(R):5'- TTGGCTCCCAGCAGAGATTAG -3'
Posted On 2013-05-09