Incidental Mutation 'R0732:Camta1'
ID 67626
Institutional Source Beutler Lab
Gene Symbol Camta1
Ensembl Gene ENSMUSG00000014592
Gene Name calmodulin binding transcription activator 1
Synonyms 2310058O09Rik, 1810059M14Rik
MMRRC Submission 038913-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R0732 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 151143980-151946225 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 151670941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049790] [ENSMUST00000049790] [ENSMUST00000097774] [ENSMUST00000097774] [ENSMUST00000169423] [ENSMUST00000169423]
AlphaFold A2A891
Predicted Effect probably null
Transcript: ENSMUST00000049790
SMART Domains Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592

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 null
Transcript: ENSMUST00000049790
SMART Domains Protein: ENSMUSP00000054804
Gene: ENSMUSG00000014592

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 null
Transcript: ENSMUST00000097774
SMART Domains Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592

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: ENSMUST00000097774
SMART Domains Protein: ENSMUSP00000095381
Gene: ENSMUSG00000014592

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 noncoding transcript
Transcript: ENSMUST00000155685
Predicted Effect probably null
Transcript: ENSMUST00000169423
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592

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 null
Transcript: ENSMUST00000169423
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,523,411 (GRCm39) Y1175C probably damaging Het
Acsm3 T C 7: 119,373,057 (GRCm39) S187P probably benign Het
Adam28 T C 14: 68,874,796 (GRCm39) I294V probably benign Het
Adgrv1 T C 13: 81,651,123 (GRCm39) I3057M possibly damaging Het
Aff4 T C 11: 53,266,423 (GRCm39) V304A probably benign Het
Akr1b10 T C 6: 34,367,044 (GRCm39) Y108H probably benign Het
Ankib1 T C 5: 3,763,163 (GRCm39) N522S possibly damaging Het
Ano1 T A 7: 144,173,225 (GRCm39) probably null Het
Antxr2 G T 5: 98,108,567 (GRCm39) probably null Het
Arc G A 15: 74,543,044 (GRCm39) T393I probably damaging Het
Arhgef33 A G 17: 80,688,783 (GRCm39) D5G possibly damaging Het
Atf2 A T 2: 73,675,844 (GRCm39) M169K possibly damaging Het
BC005624 T A 2: 30,863,949 (GRCm39) T215S possibly damaging Het
Bmp8b G A 4: 122,999,199 (GRCm39) G19D unknown Het
Cacna1d T C 14: 29,764,877 (GRCm39) N1987S probably damaging Het
Catsperg2 C T 7: 29,400,121 (GRCm39) G316D probably damaging Het
Cbs G T 17: 31,844,003 (GRCm39) N209K probably benign Het
Ccdc122 T A 14: 77,329,199 (GRCm39) M84K probably damaging Het
Cd5 C T 19: 10,700,649 (GRCm39) C285Y probably damaging Het
Chpf2 T C 5: 24,795,419 (GRCm39) M1T probably null Het
Coch T A 12: 51,642,155 (GRCm39) D42E probably damaging Het
Crip2 C T 12: 113,104,178 (GRCm39) probably benign Het
Crlf2 G C 5: 109,705,004 (GRCm39) P67R probably damaging Het
Cxcl16 G T 11: 70,346,234 (GRCm39) P233H probably damaging Het
Cyfip1 T C 7: 55,536,529 (GRCm39) I319T probably damaging Het
Ddhd2 T C 8: 26,231,348 (GRCm39) Q364R probably damaging Het
Ephx2 A G 14: 66,324,412 (GRCm39) probably null Het
Exoc6b C A 6: 84,832,504 (GRCm39) V397L probably damaging Het
Fam83b T A 9: 76,400,210 (GRCm39) K298* probably null Het
Fbxo8 T A 8: 57,044,564 (GRCm39) I289N probably damaging Het
Fkbp9 T A 6: 56,855,089 (GRCm39) M536K probably benign Het
Flot1 C T 17: 36,136,416 (GRCm39) R190W possibly damaging Het
Gbp2b T A 3: 142,312,739 (GRCm39) V374E probably benign Het
Gna15 T A 10: 81,348,390 (GRCm39) S114C probably damaging Het
Gstt4 T A 10: 75,653,155 (GRCm39) T136S probably benign Het
Hcn3 C T 3: 89,056,093 (GRCm39) V524M probably damaging Het
Kctd16 A T 18: 40,391,616 (GRCm39) D68V probably damaging Het
Kics2 T C 10: 121,586,852 (GRCm39) V253A possibly damaging Het
Krt90 G T 15: 101,468,860 (GRCm39) F227L possibly damaging Het
Lrrc37 T C 11: 103,510,664 (GRCm39) T435A unknown Het
Maip1 A G 1: 57,450,994 (GRCm39) Y212C probably damaging Het
Mamdc2 C T 19: 23,356,233 (GRCm39) D72N probably damaging Het
Marveld3 A T 8: 110,675,115 (GRCm39) Y234N probably damaging Het
Mas1 A G 17: 13,060,634 (GRCm39) I263T probably benign Het
Matk T A 10: 81,094,140 (GRCm39) probably null Het
Mrgpre T A 7: 143,335,303 (GRCm39) I67F possibly damaging Het
Mthfd1 T A 12: 76,340,948 (GRCm39) I449N probably damaging Het
Nacc1 C T 8: 85,402,830 (GRCm39) R321Q probably damaging Het
Neb T C 2: 52,148,693 (GRCm39) D2618G probably damaging Het
Neb T C 2: 52,181,280 (GRCm39) Y1109C probably damaging Het
Nell1 T G 7: 50,506,135 (GRCm39) W781G probably damaging Het
Or4g16 T A 2: 111,137,325 (GRCm39) Y258* probably null Het
Or4x6 A G 2: 89,949,666 (GRCm39) V92A probably benign Het
Or52d1 T C 7: 103,755,501 (GRCm39) L5P probably damaging Het
Or55b4 T C 7: 102,133,650 (GRCm39) I226V probably benign Het
Or5p72 C A 7: 108,021,784 (GRCm39) A2D probably benign Het
Or6k4 A T 1: 173,964,981 (GRCm39) I224F possibly damaging Het
Or8s8 T C 15: 98,354,959 (GRCm39) L256S possibly damaging Het
Or8u10 A C 2: 85,915,928 (GRCm39) S64R probably benign Het
Pcdh7 C A 5: 57,878,657 (GRCm39) D737E probably damaging Het
Pdss1 T G 2: 22,791,324 (GRCm39) M55R probably benign Het
Pex6 C T 17: 47,035,626 (GRCm39) R889W probably damaging Het
Pigl T A 11: 62,349,307 (GRCm39) C8S possibly damaging Het
Plekha7 A T 7: 115,744,472 (GRCm39) M585K probably damaging Het
Ppp1r1a C T 15: 103,441,514 (GRCm39) M66I possibly damaging Het
Ptcd3 A T 6: 71,858,155 (GRCm39) probably benign Het
Rhov A T 2: 119,101,495 (GRCm39) V37E probably damaging Het
Rnf213 A T 11: 119,331,894 (GRCm39) M2368L probably damaging Het
Skida1 T C 2: 18,050,968 (GRCm39) probably benign Het
Slc25a28 T C 19: 43,655,392 (GRCm39) D161G probably benign Het
Smc6 T C 12: 11,340,818 (GRCm39) V490A probably damaging Het
Sohlh2 T A 3: 55,097,794 (GRCm39) probably null Het
Stk31 A G 6: 49,394,429 (GRCm39) T264A probably benign Het
Syngap1 T A 17: 27,173,962 (GRCm39) S190R possibly damaging Het
Tacr1 T A 6: 82,529,882 (GRCm39) V200E probably damaging Het
Tbrg4 C T 11: 6,570,812 (GRCm39) R220H probably benign Het
Tcf20 A G 15: 82,736,504 (GRCm39) L1649P probably benign Het
Tcirg1 A T 19: 3,947,866 (GRCm39) L523Q possibly damaging Het
Tinag T A 9: 76,908,936 (GRCm39) K335M possibly damaging Het
Tkt T G 14: 30,293,097 (GRCm39) probably null Het
Tnpo1 C T 13: 99,000,320 (GRCm39) R349H probably damaging Het
Trim26 T A 17: 37,163,510 (GRCm39) S230R possibly damaging Het
Trim8 T A 19: 46,503,178 (GRCm39) probably null Het
Trp53bp1 T C 2: 121,078,745 (GRCm39) R326G probably null Het
Ugt2a2 A T 5: 87,608,498 (GRCm39) I613N probably damaging Het
Vmn1r32 T C 6: 66,530,690 (GRCm39) I29V probably benign Het
Wnt5b C T 6: 119,423,543 (GRCm39) W27* probably null 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
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'- ACATGGCCCTGTCAACTCGTTAC -3'
(R):5'- CCGATGAATGGCATTTGGGACCTC -3'

Sequencing Primer
(F):5'- TACCCTGCATTGAGTGGC -3'
(R):5'- AAACCCAGGCTTTGATGGTG -3'
Posted On 2013-09-03