Incidental Mutation 'R7881:Camta1'
ID 608746
Institutional Source Beutler Lab
Gene Symbol Camta1
Ensembl Gene ENSMUSG00000014592
Gene Name calmodulin binding transcription activator 1
Synonyms 2310058O09Rik, 1810059M14Rik
MMRRC Submission 045933-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.551) question?
Stock # R7881 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 151143980-151946225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 151920333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 18 (S18F)
Ref Sequence ENSEMBL: ENSMUSP00000149268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000153938] [ENSMUST00000169423] [ENSMUST00000214673]
AlphaFold A2A891
Predicted Effect probably damaging
Transcript: ENSMUST00000049790
AA Change: S18F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592
AA Change: S18F

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: S18F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592
AA Change: S18F

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: ENSMUST00000153938
AA Change: S18F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134684
Gene: ENSMUSG00000014592
AA Change: S18F

DomainStartEndE-ValueType
low complexity region 53 68 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169423
AA Change: S18F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592
AA Change: S18F

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
Predicted Effect probably damaging
Transcript: ENSMUST00000214673
AA Change: S18F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (63/65)
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
2210408I21Rik A G 13: 77,471,685 (GRCm39) N1030S possibly damaging Het
4930507D05Rik A G 10: 62,285,303 (GRCm39) H9R unknown Het
Anks1b T A 10: 90,802,880 (GRCm39) S398T probably benign Het
Bbox1 T A 2: 110,122,871 (GRCm39) K139N probably benign Het
Birc6 C A 17: 74,948,666 (GRCm39) H3047N probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccnb1ip1 T C 14: 51,031,277 (GRCm39) Y12C possibly damaging Het
Celsr3 G A 9: 108,705,271 (GRCm39) A585T probably benign Het
Col6a4 T C 9: 105,957,497 (GRCm39) N109S probably benign Het
Crisp4 A T 1: 18,198,893 (GRCm39) D180E probably benign Het
Dmxl1 T A 18: 49,997,450 (GRCm39) M546K probably damaging Het
Dnah11 C T 12: 117,951,237 (GRCm39) V3024I probably benign Het
Dnah2 T C 11: 69,322,064 (GRCm39) D3752G probably damaging Het
Dram1 G T 10: 88,160,609 (GRCm39) D237E probably benign Het
Ehbp1l1 T C 19: 5,769,426 (GRCm39) N626D probably benign Het
Elavl1 T G 8: 4,361,763 (GRCm39) N3T probably damaging Het
Fam184a A G 10: 53,574,589 (GRCm39) V340A probably benign Het
Fer1l5 C T 1: 36,446,117 (GRCm39) T876M not run Het
Foxp2 T A 6: 15,409,888 (GRCm39) V471E unknown Het
Fstl5 G A 3: 76,443,605 (GRCm39) G317R probably damaging Het
Gm32742 T C 9: 51,060,414 (GRCm39) E963G possibly damaging Het
Gpbp1 A T 13: 111,575,733 (GRCm39) S257T possibly damaging Het
Gsdmc4 C T 15: 63,769,568 (GRCm39) C218Y possibly damaging Het
Hmg20b T C 10: 81,182,442 (GRCm39) H298R probably damaging Het
Igf2r A T 17: 12,967,591 (GRCm39) C72S probably benign Het
Kcnip1 A G 11: 33,583,206 (GRCm39) M193T probably damaging Het
Khdc1c G T 1: 21,439,899 (GRCm39) C150F probably benign Het
Kmt2b A G 7: 30,279,208 (GRCm39) S1485P probably damaging Het
Lnpep A G 17: 17,787,001 (GRCm39) S533P probably benign Het
Megf8 T A 7: 25,040,060 (GRCm39) V997E possibly damaging Het
Mob2 T C 7: 141,563,177 (GRCm39) Y94C probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Npepl1 A G 2: 173,962,387 (GRCm39) D351G probably damaging Het
Nrg1 G A 8: 32,328,352 (GRCm39) Q213* probably null Het
Nrp2 A G 1: 62,810,990 (GRCm39) D677G probably benign Het
Or11h7 A G 14: 50,890,904 (GRCm39) E70G probably damaging Het
Or2b4 G T 17: 38,116,320 (GRCm39) G95C probably damaging Het
Or56a3 G T 7: 104,735,780 (GRCm39) V286F probably damaging Het
Or5aq7 G T 2: 86,938,401 (GRCm39) T110K probably damaging Het
Or5m3b C A 2: 85,871,814 (GRCm39) Q52K probably benign Het
Or8c8 T A 9: 38,165,406 (GRCm39) M228K probably benign Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Phaf1 C A 8: 105,976,084 (GRCm39) T347N probably benign Het
Prune2 G A 19: 17,100,393 (GRCm39) V1966I possibly damaging Het
Ptch2 A G 4: 116,967,585 (GRCm39) H751R probably benign Het
Ptges2 T A 2: 32,292,243 (GRCm39) M353K probably damaging Het
Pum3 G A 19: 27,373,728 (GRCm39) Q564* probably null Het
Qtrt1 A G 9: 21,330,637 (GRCm39) D279G probably damaging Het
Rftn1 C T 17: 50,354,463 (GRCm39) V300I probably benign Het
Robo2 T C 16: 73,717,585 (GRCm39) T1172A probably benign Het
Sdc3 A G 4: 130,544,244 (GRCm39) D74G unknown Het
Setd1b A G 5: 123,290,336 (GRCm39) M768V unknown Het
Shld2 A T 14: 33,989,724 (GRCm39) M394K possibly damaging Het
Siglech A T 7: 55,422,289 (GRCm39) H298L probably benign Het
Sipa1 A T 19: 5,701,704 (GRCm39) L977Q probably damaging Het
Slc9c1 G A 16: 45,403,332 (GRCm39) V800I probably benign Het
Spata31e1 A G 13: 49,943,547 (GRCm39) S44P possibly damaging Het
Spata31f1a C T 4: 42,851,586 (GRCm39) C190Y probably benign Het
Tbc1d8 C T 1: 39,425,104 (GRCm39) R582Q probably damaging Het
Tmem247 T A 17: 87,229,728 (GRCm39) F190I probably damaging Het
Trim42 C A 9: 97,245,070 (GRCm39) A577S possibly damaging Het
Ubiad1 G A 4: 148,528,726 (GRCm39) T61I probably benign Het
Usp40 G A 1: 87,923,435 (GRCm39) Q279* probably null Het
Usp48 A G 4: 137,360,766 (GRCm39) N733S probably benign Het
Vmn2r83 A T 10: 79,314,261 (GRCm39) I170F probably benign Het
Xkr4 G A 1: 3,286,487 (GRCm39) P568S probably damaging Het
Zc3h7b T C 15: 81,664,679 (GRCm39) W513R probably damaging Het
Zfp40 T C 17: 23,410,440 (GRCm39) probably benign Het
Zfp652 T A 11: 95,640,935 (GRCm39) S287T possibly damaging Het
Znrf3 G A 11: 5,394,533 (GRCm39) A49V unknown 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
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'- CTGTTTATGTTGCCTGAAAGAACC -3'
(R):5'- GGTCACAGATGGCTTTCAGTG -3'

Sequencing Primer
(F):5'- TGTTGCCTGAAAGAACCAAGTAACTC -3'
(R):5'- AACCTTGGCATGAGAGTTCC -3'
Posted On 2019-12-20