Incidental Mutation 'R9332:Camta1'
ID 706910
Institutional Source Beutler Lab
Gene Symbol Camta1
Ensembl Gene ENSMUSG00000014592
Gene Name calmodulin binding transcription activator 1
Synonyms 2310058O09Rik, 1810059M14Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R9332 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 151143980-151946225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151228474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 786 (E786G)
Ref Sequence ENSEMBL: ENSMUSP00000054804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000169423]
AlphaFold A2A891
Predicted Effect possibly damaging
Transcript: ENSMUST00000049790
AA Change: E786G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: E786G

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: E786G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: E786G

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 possibly damaging
Transcript: ENSMUST00000169423
AA Change: E786G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: E786G

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: 99.7%
  • 20x: 99.0%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd55 T G 13: 112,459,677 (GRCm39) D90E probably damaging Het
Arid1b C A 17: 5,045,584 (GRCm39) P124Q unknown Het
Atxn2 C T 5: 121,923,425 (GRCm39) P698L probably damaging Het
Bend7 T C 2: 4,757,531 (GRCm39) V191A probably benign Het
Bltp1 G A 3: 37,104,989 (GRCm39) D1485N Het
C2cd4a T G 9: 67,738,779 (GRCm39) H88P probably damaging Het
Cacna1s C T 1: 136,020,452 (GRCm39) Q830* probably null Het
Caprin1 A G 2: 103,603,390 (GRCm39) S443P probably benign Het
Cass4 T G 2: 172,269,806 (GRCm39) F629L probably benign Het
Ccdc149 T A 5: 52,562,399 (GRCm39) D209V probably damaging Het
Ccdc150 T C 1: 54,316,910 (GRCm39) V263A probably damaging Het
Cfc1 C T 1: 34,576,453 (GRCm39) R145C probably damaging Het
Cnn1 C A 9: 22,019,350 (GRCm39) D239E probably damaging Het
Cobll1 C T 2: 64,933,516 (GRCm39) S493N probably benign Het
Cox20 A T 1: 178,146,771 (GRCm39) K13* probably null Het
Dclk1 G A 3: 55,370,500 (GRCm39) S340N probably damaging Het
Dennd2c T A 3: 103,038,877 (GRCm39) D8E probably benign Het
Dnajc10 A T 2: 80,175,327 (GRCm39) K571N probably benign Het
Dock7 T A 4: 98,896,280 (GRCm39) I58F Het
Dpy19l4 A G 4: 11,304,298 (GRCm39) probably null Het
Eef2k A G 7: 120,483,918 (GRCm39) D218G probably benign Het
Eya4 G T 10: 22,989,845 (GRCm39) T504K probably damaging Het
Fam222a T C 5: 114,749,398 (GRCm39) I198T probably damaging Het
Fbxw10 T A 11: 62,748,585 (GRCm39) F404Y probably benign Het
Fbxw24 A T 9: 109,452,681 (GRCm39) Y105N probably damaging Het
Fzd10 T G 5: 128,678,316 (GRCm39) L12R possibly damaging Het
Gm14443 A G 2: 175,017,610 (GRCm39) probably benign Het
Gm21028 A T 7: 42,227,904 (GRCm39) C37S probably damaging Het
Gpr179 G T 11: 97,229,551 (GRCm39) A868E probably damaging Het
Greb1l T A 18: 10,532,796 (GRCm39) Y897N possibly damaging Het
Grid1 A T 14: 35,045,360 (GRCm39) Y401F probably benign Het
Heatr5a G A 12: 51,946,068 (GRCm39) T1181I probably benign Het
Herc4 G A 10: 63,144,125 (GRCm39) V753I probably damaging Het
Htra1 A T 7: 130,563,851 (GRCm39) K241* probably null Het
Kat6b A G 14: 21,720,093 (GRCm39) I1482V probably benign Het
Kif19a G T 11: 114,680,033 (GRCm39) R790L possibly damaging Het
Lmf2 G A 15: 89,239,577 (GRCm39) L26F probably damaging Het
Lpcat1 T C 13: 73,659,462 (GRCm39) L408S probably damaging Het
Lrrc69 T A 4: 14,774,987 (GRCm39) R94W probably damaging Het
Map4 A G 9: 109,864,223 (GRCm39) T483A probably benign Het
Mettl3 C A 14: 52,534,125 (GRCm39) C483F probably damaging Het
Myh13 A G 11: 67,254,109 (GRCm39) D1543G possibly damaging Het
Myh2 G A 11: 67,070,209 (GRCm39) V414I probably damaging Het
Myh7b C T 2: 155,470,722 (GRCm39) R1057C probably damaging Het
Myo9b A G 8: 71,812,246 (GRCm39) S2006G probably benign Het
Nelfcd A G 2: 174,264,978 (GRCm39) K239R probably benign Het
Nlrp4a T C 7: 26,159,077 (GRCm39) S786P probably damaging Het
Or5g23 T A 2: 85,438,331 (GRCm39) K308* probably null Het
Or6c205 A G 10: 129,086,972 (GRCm39) T190A probably damaging Het
Pdzrn4 G T 15: 92,295,216 (GRCm39) V141L probably benign Het
Phip G T 9: 82,757,412 (GRCm39) R1587S probably damaging Het
Plce1 A G 19: 38,726,377 (GRCm39) E1448G probably damaging Het
Plrg1 T C 3: 82,976,308 (GRCm39) S326P possibly damaging Het
Pom121l2 T A 13: 22,165,852 (GRCm39) V41E probably damaging Het
Pramel17 C T 4: 101,695,144 (GRCm39) V56M probably damaging Het
Preb G T 5: 31,113,673 (GRCm39) S311* probably null Het
Prss33 T A 17: 24,053,723 (GRCm39) D118V probably damaging Het
Pum1 C A 4: 130,499,209 (GRCm39) Y1008* probably null Het
Rassf2 G A 2: 131,846,326 (GRCm39) R144C probably damaging Het
Rnf123 A T 9: 107,944,704 (GRCm39) M429K probably benign Het
Rtl1 T A 12: 109,557,291 (GRCm39) H1516L probably benign Het
Scyl3 T A 1: 163,764,007 (GRCm39) N124K probably damaging Het
Sec24b A G 3: 129,801,220 (GRCm39) S488P probably benign Het
Shc4 T A 2: 125,520,618 (GRCm39) D277V probably damaging Het
Sorl1 T A 9: 41,912,814 (GRCm39) D1389V probably damaging Het
Srcap T A 7: 127,158,812 (GRCm39) I2896N unknown Het
Steap3 T A 1: 120,155,564 (GRCm39) Y465F probably benign Het
Tecta C A 9: 42,284,193 (GRCm39) C964F probably damaging Het
Thap1 AGCAGCATCTGCTCG AG 8: 26,650,882 (GRCm39) probably null Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmem178b G A 6: 39,981,181 (GRCm39) W72* probably null Het
Tmem235 T G 11: 117,751,665 (GRCm39) Y30D probably damaging Het
Tpst1 C A 5: 130,163,301 (GRCm39) T366K probably benign Het
Trdv2-1 C A 14: 54,183,848 (GRCm39) P27T probably benign Het
Trim37 G T 11: 87,058,328 (GRCm39) L335F possibly damaging Het
Usp9y G A Y: 1,341,873 (GRCm39) R1331W probably damaging Het
Vmn1r1 T G 1: 181,985,002 (GRCm39) H221P probably damaging Het
Vmn2r6 A T 3: 64,454,671 (GRCm39) S543T probably benign Het
Wdpcp C T 11: 21,661,522 (GRCm39) P265S probably benign Het
Wdr64 T C 1: 175,599,871 (GRCm39) L566P possibly damaging Het
Zfp248 A G 6: 118,405,891 (GRCm39) I566T possibly damaging Het
Zfp595 T A 13: 67,465,463 (GRCm39) I270F probably damaging Het
Zfp715 A G 7: 42,948,847 (GRCm39) L371P 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
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
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
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'- CTGAAGGGAATGAGGTCCTC -3'

Sequencing Primer
(F):5'- CATGTAGGCCATGGTGCTG -3'
(R):5'- AGGTCCTCCTCAAGTCTGG -3'
Posted On 2022-04-18