Incidental Mutation 'R7447:Camta1'
ID 577348
Institutional Source Beutler Lab
Gene Symbol Camta1
Ensembl Gene ENSMUSG00000014592
Gene Name calmodulin binding transcription activator 1
Synonyms 2310058O09Rik, 1810059M14Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R7447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 151143980-151946225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151168327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1332 (V1332E)
Ref Sequence ENSEMBL: ENSMUSP00000054804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000105668] [ENSMUST00000105668] [ENSMUST00000105670] [ENSMUST00000105670] [ENSMUST00000131948] [ENSMUST00000140030] [ENSMUST00000169423]
AlphaFold A2A891
Predicted Effect probably benign
Transcript: ENSMUST00000049790
AA Change: V1332E

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: V1332E

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 possibly damaging
Transcript: ENSMUST00000097774
AA Change: V1332E

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: V1332E

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 null
Transcript: ENSMUST00000105668
SMART Domains Protein: ENSMUSP00000101293
Gene: ENSMUSG00000014592

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 probably null
Transcript: ENSMUST00000105668
SMART Domains Protein: ENSMUSP00000101293
Gene: ENSMUSG00000014592

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 probably null
Transcript: ENSMUST00000105670
SMART Domains Protein: ENSMUSP00000101295
Gene: ENSMUSG00000014592

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 null
Transcript: ENSMUST00000105670
SMART Domains Protein: ENSMUSP00000101295
Gene: ENSMUSG00000014592

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: ENSMUST00000131948
SMART Domains Protein: ENSMUSP00000118969
Gene: ENSMUSG00000014592

DomainStartEndE-ValueType
low complexity region 19 52 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140030
SMART Domains Protein: ENSMUSP00000119067
Gene: ENSMUSG00000014592

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: V1332E

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: V1332E

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: 99.8%
  • 20x: 99.4%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A T 15: 76,479,396 (GRCm39) I484F possibly damaging Het
Ago2 A T 15: 73,009,881 (GRCm39) N100K probably benign Het
Appl1 T A 14: 26,681,409 (GRCm39) K130* probably null Het
Arhgap39 G A 15: 76,649,797 (GRCm39) probably benign Het
Axdnd1 A G 1: 156,245,802 (GRCm39) probably null Het
Cd3g A G 9: 44,884,857 (GRCm39) L129P probably damaging Het
Cd80 T G 16: 38,294,251 (GRCm39) S45A probably benign Het
Cdk12 A T 11: 98,136,106 (GRCm39) Q1120L unknown Het
Clip1 G A 5: 123,791,696 (GRCm39) S158F probably benign Het
Cntn3 C A 6: 102,255,416 (GRCm39) E161* probably null Het
Cyp3a59 A C 5: 146,024,215 (GRCm39) K67T probably benign Het
Dmxl1 T C 18: 49,997,681 (GRCm39) L623P probably damaging Het
Drd3 T A 16: 43,637,426 (GRCm39) Y208* probably null Het
Dusp10 A T 1: 183,801,153 (GRCm39) M307L probably benign Het
Dync2li1 A T 17: 84,955,141 (GRCm39) I267L possibly damaging Het
Dynlt2b T A 16: 32,244,089 (GRCm39) V95E probably damaging Het
Edn3 C A 2: 174,603,544 (GRCm39) C97* probably null Het
Ehbp1l1 T A 19: 5,769,456 (GRCm39) T616S possibly damaging Het
Eif2a C T 3: 58,452,963 (GRCm39) T246I probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Errfi1 A G 4: 150,951,108 (GRCm39) T179A probably damaging Het
Esyt3 G A 9: 99,203,615 (GRCm39) L450F probably damaging Het
Evx2 A G 2: 74,489,448 (GRCm39) S106P probably benign Het
Fam83a T G 15: 57,873,086 (GRCm39) V305G probably benign Het
Fem1al T C 11: 29,774,122 (GRCm39) D445G probably benign Het
Gpr171 T A 3: 59,005,860 (GRCm39) probably null Het
Grip1 A G 10: 119,922,871 (GRCm39) T1106A probably benign Het
Hecw1 A G 13: 14,531,789 (GRCm39) Y162H probably damaging Het
Hephl1 C T 9: 15,009,178 (GRCm39) probably null Het
Hsp90aa1 A G 12: 110,658,562 (GRCm39) I693T possibly damaging Het
Ifit1bl2 T A 19: 34,596,974 (GRCm39) D214V probably damaging Het
Igsf10 T C 3: 59,239,222 (GRCm39) M320V probably benign Het
Kcnq2 A G 2: 180,754,887 (GRCm39) L220P probably damaging Het
Kpna1 C A 16: 35,850,009 (GRCm39) Q372K probably damaging Het
Lilrb4a T G 10: 51,367,149 (GRCm39) probably null Het
Ly75 C A 2: 60,164,818 (GRCm39) E787* probably null Het
Magi1 T G 6: 93,722,562 (GRCm39) S666R possibly damaging Het
Mif C A 10: 75,695,687 (GRCm39) A39S possibly damaging Het
Mob4 G A 1: 55,170,625 (GRCm39) probably benign Het
Mtmr4 G T 11: 87,502,727 (GRCm39) C927F probably damaging Het
Myh1 A G 11: 67,110,006 (GRCm39) K1398R probably benign Het
Myo3a T C 2: 22,436,464 (GRCm39) V873A probably benign Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nckap5l G A 15: 99,325,357 (GRCm39) P382L probably damaging Het
Ngly1 T C 14: 16,290,844 (GRCm38) I442T probably damaging Het
Nhsl3 C A 4: 129,115,835 (GRCm39) R988L possibly damaging Het
Nlrp1a T C 11: 70,983,237 (GRCm39) Y1243C probably damaging Het
Or8k53 T A 2: 86,177,150 (GRCm39) H320L possibly damaging Het
Pcsk5 C T 19: 17,487,600 (GRCm39) G1027D probably benign Het
Pla2g2c T A 4: 138,458,927 (GRCm39) I11N probably benign Het
Polr3d A G 14: 70,677,240 (GRCm39) I331T probably damaging Het
Ppp4r4 A G 12: 103,551,985 (GRCm39) I293M possibly damaging Het
Prkce G T 17: 86,866,687 (GRCm39) V516F probably damaging Het
Prss27 T A 17: 24,264,683 (GRCm39) L282Q probably damaging Het
Pxdn A G 12: 30,034,926 (GRCm39) Y261C probably damaging Het
R3hcc1l T C 19: 42,551,101 (GRCm39) S33P probably benign Het
Rab11fip3 G C 17: 26,287,848 (GRCm39) R102G possibly damaging Het
Rabggta A T 14: 55,956,773 (GRCm39) N310K probably null Het
Rbbp8 T A 18: 11,793,934 (GRCm39) D15E probably benign Het
Rbm5 T C 9: 107,623,378 (GRCm39) Y486C probably damaging Het
Rptor T A 11: 119,775,805 (GRCm39) F992Y probably benign Het
Slc29a2 T G 19: 5,076,445 (GRCm39) L111R probably damaging Het
Slc39a11 T A 11: 113,452,849 (GRCm39) I31L probably benign Het
Slc6a20a T A 9: 123,485,289 (GRCm39) N311I possibly damaging Het
Slc8a1 A G 17: 81,956,435 (GRCm39) F201S probably damaging Het
Smtn C A 11: 3,480,196 (GRCm39) V342L probably benign Het
Syne2 A G 12: 76,074,853 (GRCm39) T4598A probably benign Het
Tchp A G 5: 114,853,716 (GRCm39) T267A probably benign Het
Tes3-ps A G 13: 49,647,508 (GRCm39) E128G possibly damaging Het
Tigar C T 6: 127,065,129 (GRCm39) G173E probably benign Het
Tmem171 T C 13: 98,824,862 (GRCm39) N256S probably benign Het
Tmem204 A G 17: 25,277,270 (GRCm39) I205T probably damaging Het
Tmem63a A G 1: 180,785,588 (GRCm39) K240R probably benign Het
Tns2 C T 15: 102,019,351 (GRCm39) T446M probably damaging Het
Tnxb A T 17: 34,937,444 (GRCm39) N2931I probably damaging Het
Trrap G T 5: 144,776,284 (GRCm39) R2941L probably damaging Het
Ttc8 A T 12: 98,910,131 (GRCm39) R179S probably damaging Het
Ttll12 G T 15: 83,471,176 (GRCm39) T234N probably damaging Het
Ttn G T 2: 76,577,576 (GRCm39) T24439K probably damaging Het
Ube2z A T 11: 95,946,736 (GRCm39) I246N possibly damaging Het
Usp15 A G 10: 123,011,786 (GRCm39) Y104H probably damaging Het
Usp29 A C 7: 6,964,219 (GRCm39) T21P possibly damaging Het
Usp5 G A 6: 124,798,077 (GRCm39) A436V probably damaging Het
Utp20 A G 10: 88,608,354 (GRCm39) L1561S probably damaging Het
Xrn1 A G 9: 95,927,547 (GRCm39) M1444V probably benign Het
Zfp236 G T 18: 82,651,815 (GRCm39) Q885K probably damaging Het
Zfp831 C A 2: 174,487,896 (GRCm39) P857Q 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
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'- TTACCTGAATATCATCCATGGGCTG -3'
(R):5'- TCTGCACTGCACTGAGTCTG -3'

Sequencing Primer
(F):5'- ATGGGCTGGGGGCAATC -3'
(R):5'- ACTGCACTGAGTCTGGAGCAG -3'
Posted On 2019-10-07