Incidental Mutation 'R5388:Camta1'
ID 425400
Institutional Source Beutler Lab
Gene Symbol Camta1
Ensembl Gene ENSMUSG00000014592
Gene Name calmodulin binding transcription activator 1
Synonyms 2310058O09Rik, 1810059M14Rik
MMRRC Submission 042960-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R5388 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 151143980-151946225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 151159695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 490 (S490R)
Ref Sequence ENSEMBL: ENSMUSP00000101295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000105668] [ENSMUST00000105670] [ENSMUST00000140030] [ENSMUST00000169423]
AlphaFold A2A891
Predicted Effect probably damaging
Transcript: ENSMUST00000049790
AA Change: S1588R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: S1588R

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: S1581R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: S1581R

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: ENSMUST00000105668
AA Change: S497R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101293
Gene: ENSMUSG00000014592
AA Change: S497R

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 damaging
Transcript: ENSMUST00000105670
AA Change: S490R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101295
Gene: ENSMUSG00000014592
AA Change: S490R

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 possibly damaging
Transcript: ENSMUST00000140030
AA Change: S144R

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119067
Gene: ENSMUSG00000014592
AA Change: S144R

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 damaging
Transcript: ENSMUST00000169423
AA Change: S1588R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: S1588R

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 0.3512 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (57/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,139,969 (GRCm39) probably null Het
Acap2 C A 16: 30,928,543 (GRCm39) C475F probably damaging Het
Ace C A 11: 105,879,284 (GRCm39) P603Q possibly damaging Het
Adamts20 C G 15: 94,243,659 (GRCm39) V657L possibly damaging Het
Antxr2 A G 5: 98,125,458 (GRCm39) probably null Het
Atp6v1b2 G A 8: 69,554,089 (GRCm39) V89I probably benign Het
Cacna1e G A 1: 154,353,542 (GRCm39) P676L probably damaging Het
Camsap3 A T 8: 3,654,276 (GRCm39) I649F probably damaging Het
Celsr1 A G 15: 85,809,719 (GRCm39) I2221T probably damaging Het
Cfd A T 10: 79,727,959 (GRCm39) D164V probably damaging Het
Cfdp1 T C 8: 112,495,384 (GRCm39) D278G probably damaging Het
Cntn6 A T 6: 104,809,523 (GRCm39) L519F probably damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Cybrd1 T C 2: 70,967,989 (GRCm39) probably null Het
Cyp2e1 T C 7: 140,343,906 (GRCm39) L48P probably damaging Het
Eddm13 T C 7: 6,269,346 (GRCm39) probably null Het
Ep400 G A 5: 110,849,594 (GRCm39) T1409I unknown Het
Exosc7 A T 9: 122,947,972 (GRCm39) D47V probably damaging Het
Fgr T C 4: 132,722,342 (GRCm39) F204L probably damaging Het
Gm10100 G A 10: 77,562,560 (GRCm39) V81M probably benign Het
Gm12367 T C 4: 35,235,690 (GRCm39) noncoding transcript Het
Grxcr1 C A 5: 68,323,538 (GRCm39) T272K probably damaging Het
Kcna5 C T 6: 126,511,859 (GRCm39) D90N probably benign Het
Kdm5b T A 1: 134,536,635 (GRCm39) Y618* probably null Het
Lama5 T A 2: 179,832,539 (GRCm39) H1670L possibly damaging Het
Mtus2 C T 5: 148,243,518 (GRCm39) Q113* probably null Het
Ncam1 A C 9: 49,456,054 (GRCm39) D521E probably benign Het
Nkapl T C 13: 21,651,740 (GRCm39) H291R possibly damaging Het
Nlrp1b T G 11: 71,062,967 (GRCm39) N695H probably damaging Het
Npc1l1 T A 11: 6,164,733 (GRCm39) Q1105H probably damaging Het
Paxip1 C G 5: 27,986,453 (GRCm39) probably benign Het
Pign A T 1: 105,583,695 (GRCm39) W136R probably damaging Het
Pira1 T C 7: 3,741,856 (GRCm39) T175A possibly damaging Het
Pkn3 T A 2: 29,971,086 (GRCm39) S222T probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppfibp1 T A 6: 146,898,338 (GRCm39) I98N probably damaging Het
Ppfibp1 T G 6: 146,917,828 (GRCm39) S484A probably damaging Het
Ppp1r7 T C 1: 93,280,312 (GRCm39) F127L probably damaging Het
Pramel1 T C 4: 143,123,954 (GRCm39) Y210H probably benign Het
Rad21l C T 2: 151,495,403 (GRCm39) V427I probably benign Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 138,680,599 (GRCm39) probably benign Het
Rnf225 A G 7: 12,661,932 (GRCm39) D37G probably damaging Het
Smpd2 A G 10: 41,363,967 (GRCm39) probably null Het
Spata31h1 T C 10: 82,119,561 (GRCm39) Q4483R probably damaging Het
Tmem38b C T 4: 53,859,945 (GRCm39) R242W probably benign Het
Topaz1 A T 9: 122,603,158 (GRCm39) K1035I possibly damaging Het
Trhr T C 15: 44,060,873 (GRCm39) I131T possibly damaging Het
Usp1 A G 4: 98,819,294 (GRCm39) D252G probably benign Het
Usp14 C T 18: 10,018,023 (GRCm39) E90K probably damaging Het
Yme1l1 T G 2: 23,052,569 (GRCm39) D74E probably benign Het
Ythdc2 T A 18: 44,990,092 (GRCm39) L732Q possibly damaging Het
Zbbx G T 3: 74,990,977 (GRCm39) A289D probably damaging Het
Zfhx3 G A 8: 109,673,446 (GRCm39) V1499I possibly damaging Het
Zfp622 T C 15: 25,996,285 (GRCm39) V184A 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
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'- AGGTCTAGGTACTGTGCCAG -3'
(R):5'- TGGAAAAGTACTGGAAGCTTGCTG -3'

Sequencing Primer
(F):5'- GAGCCTCTGCCACACCCTG -3'
(R):5'- ACTGGAAGCTTGCTGTTGGC -3'
Posted On 2016-08-04