Incidental Mutation 'IGL02285:Camsap1'
ID 289963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camsap1
Ensembl Gene ENSMUSG00000026933
Gene Name calmodulin regulated spectrin-associated protein 1
Synonyms 9530003A05Rik, PRO2405
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # IGL02285
Quality Score
Status
Chromosome 2
Chromosomal Location 25816850-25873294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25819814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1557 (D1557G)
Ref Sequence ENSEMBL: ENSMUSP00000139028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000183461]
AlphaFold A2AHC3
Predicted Effect probably damaging
Transcript: ENSMUST00000091268
AA Change: D1557G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: D1557G

DomainStartEndE-ValueType
Pfam:CAMSAP_CH 228 311 3.3e-35 PFAM
low complexity region 732 747 N/A INTRINSIC
low complexity region 792 807 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
Pfam:CAMSAP_CC1 859 917 3.8e-29 PFAM
coiled coil region 1010 1037 N/A INTRINSIC
coiled coil region 1267 1336 N/A INTRINSIC
low complexity region 1341 1353 N/A INTRINSIC
low complexity region 1373 1390 N/A INTRINSIC
low complexity region 1429 1439 N/A INTRINSIC
CAMSAP_CKK 1442 1570 3.6e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114167
AA Change: D1558G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: D1558G

DomainStartEndE-ValueType
Pfam:CH 185 330 5.4e-34 PFAM
Pfam:CAMSAP_CH 228 311 2.3e-34 PFAM
low complexity region 732 747 N/A INTRINSIC
low complexity region 792 807 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
coiled coil region 869 905 N/A INTRINSIC
coiled coil region 1010 1037 N/A INTRINSIC
coiled coil region 1267 1336 N/A INTRINSIC
low complexity region 1341 1353 N/A INTRINSIC
low complexity region 1373 1390 N/A INTRINSIC
low complexity region 1429 1439 N/A INTRINSIC
CAMSAP_CKK 1442 1570 3.6e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134970
Predicted Effect probably benign
Transcript: ENSMUST00000143977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148146
Predicted Effect probably damaging
Transcript: ENSMUST00000183461
AA Change: D1557G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: D1557G

DomainStartEndE-ValueType
Pfam:CH 185 330 5.4e-34 PFAM
Pfam:CAMSAP_CH 228 311 2.3e-34 PFAM
low complexity region 732 747 N/A INTRINSIC
low complexity region 792 807 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
coiled coil region 869 905 N/A INTRINSIC
coiled coil region 1010 1037 N/A INTRINSIC
coiled coil region 1267 1336 N/A INTRINSIC
low complexity region 1341 1353 N/A INTRINSIC
low complexity region 1373 1390 N/A INTRINSIC
low complexity region 1429 1439 N/A INTRINSIC
CAMSAP_CKK 1442 1570 3.6e-85 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,244,670 (GRCm39) V672A possibly damaging Het
Arhgef28 A T 13: 98,187,536 (GRCm39) V253D possibly damaging Het
Atg3 G A 16: 44,998,680 (GRCm39) probably benign Het
Cdh20 A G 1: 110,065,921 (GRCm39) T732A probably damaging Het
Cert1 A G 13: 96,752,990 (GRCm39) H348R probably benign Het
Cyp3a13 T A 5: 137,908,229 (GRCm39) I207F probably benign Het
Dock1 T G 7: 134,683,649 (GRCm39) probably null Het
Drc7 A T 8: 95,797,861 (GRCm39) probably benign Het
Drosha C A 15: 12,833,950 (GRCm39) P18H unknown Het
Fbxl5 A G 5: 43,922,690 (GRCm39) S243P possibly damaging Het
Filip1 A G 9: 79,727,408 (GRCm39) C404R probably damaging Het
Gm5745 G A 9: 73,082,780 (GRCm39) noncoding transcript Het
Gm7808 T G 9: 19,839,347 (GRCm39) probably benign Het
Gpi-ps C T 8: 5,690,373 (GRCm39) noncoding transcript Het
Hcn3 T C 3: 89,060,119 (GRCm39) D175G probably damaging Het
Igkv1-117 A T 6: 68,098,519 (GRCm39) M23L probably benign Het
Kif26a A G 12: 112,123,941 (GRCm39) D182G probably damaging Het
Lmbr1 A G 5: 29,459,233 (GRCm39) probably benign Het
Lypd4 T A 7: 24,564,865 (GRCm39) Q91L probably damaging Het
Ncoa5 C T 2: 164,844,760 (GRCm39) A37T probably damaging Het
Or52ad1 G A 7: 102,995,245 (GRCm39) R297* probably null Het
Or56b1 A G 7: 104,284,932 (GRCm39) E17G probably benign Het
Or7g17 T A 9: 18,768,286 (GRCm39) C122S possibly damaging Het
Ppp1r18 A G 17: 36,178,148 (GRCm39) K8E probably damaging Het
Ppp3ca A G 3: 136,634,387 (GRCm39) probably benign Het
Ptpn12 T A 5: 21,260,711 (GRCm39) Q12L probably benign Het
Rpgrip1l A G 8: 91,959,535 (GRCm39) F1122L possibly damaging Het
Rps15 G T 10: 80,129,596 (GRCm39) M43I probably benign Het
Rrp15 T C 1: 186,453,592 (GRCm39) probably benign Het
Sash1 A T 10: 8,616,098 (GRCm39) M588K probably damaging Het
Slc12a7 A G 13: 73,943,714 (GRCm39) probably benign Het
Slc25a13 A G 6: 6,042,643 (GRCm39) V587A possibly damaging Het
Sugct T C 13: 17,847,181 (GRCm39) D34G possibly damaging Het
Tdpoz2 T A 3: 93,559,598 (GRCm39) I125F probably damaging Het
Trim52 T A 14: 106,344,702 (GRCm39) L120Q probably damaging Het
Vmn1r85 T C 7: 12,818,711 (GRCm39) I144M probably damaging Het
Vmn2r107 T C 17: 20,595,823 (GRCm39) F792S probably damaging Het
Vsnl1 A G 12: 11,436,878 (GRCm39) F34L probably damaging Het
Other mutations in Camsap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Camsap1 APN 2 25,823,635 (GRCm39) missense possibly damaging 0.95
IGL01555:Camsap1 APN 2 25,829,405 (GRCm39) missense possibly damaging 0.81
IGL01667:Camsap1 APN 2 25,835,293 (GRCm39) splice site probably benign
IGL02167:Camsap1 APN 2 25,824,312 (GRCm39) missense probably damaging 1.00
IGL02191:Camsap1 APN 2 25,819,892 (GRCm39) missense probably damaging 0.97
IGL02393:Camsap1 APN 2 25,828,334 (GRCm39) missense probably benign 0.10
3-1:Camsap1 UTSW 2 25,835,190 (GRCm39) missense probably damaging 1.00
R0631:Camsap1 UTSW 2 25,823,659 (GRCm39) missense probably damaging 0.98
R0828:Camsap1 UTSW 2 25,829,097 (GRCm39) missense probably damaging 1.00
R1434:Camsap1 UTSW 2 25,835,190 (GRCm39) missense probably damaging 1.00
R1687:Camsap1 UTSW 2 25,829,627 (GRCm39) missense probably damaging 1.00
R2027:Camsap1 UTSW 2 25,828,538 (GRCm39) missense possibly damaging 0.51
R2048:Camsap1 UTSW 2 25,819,755 (GRCm39) missense probably benign 0.00
R3732:Camsap1 UTSW 2 25,828,356 (GRCm39) missense probably damaging 1.00
R4437:Camsap1 UTSW 2 25,828,658 (GRCm39) missense possibly damaging 0.89
R4494:Camsap1 UTSW 2 25,842,770 (GRCm39) missense probably damaging 1.00
R4888:Camsap1 UTSW 2 25,825,562 (GRCm39) missense probably benign 0.03
R5028:Camsap1 UTSW 2 25,834,568 (GRCm39) missense probably damaging 1.00
R5058:Camsap1 UTSW 2 25,829,375 (GRCm39) missense probably benign 0.01
R5105:Camsap1 UTSW 2 25,830,941 (GRCm39) missense probably damaging 1.00
R5121:Camsap1 UTSW 2 25,825,562 (GRCm39) missense probably benign 0.03
R5153:Camsap1 UTSW 2 25,823,630 (GRCm39) missense probably damaging 1.00
R5323:Camsap1 UTSW 2 25,855,823 (GRCm39) missense probably damaging 0.98
R6043:Camsap1 UTSW 2 25,819,937 (GRCm39) missense probably benign 0.00
R6479:Camsap1 UTSW 2 25,825,874 (GRCm39) missense possibly damaging 0.88
R6502:Camsap1 UTSW 2 25,846,320 (GRCm39) missense probably damaging 1.00
R6571:Camsap1 UTSW 2 25,829,512 (GRCm39) missense possibly damaging 0.89
R7046:Camsap1 UTSW 2 25,835,201 (GRCm39) missense probably damaging 0.99
R7251:Camsap1 UTSW 2 25,828,898 (GRCm39) missense probably damaging 0.99
R8026:Camsap1 UTSW 2 25,828,214 (GRCm39) missense probably benign 0.17
R8133:Camsap1 UTSW 2 25,824,309 (GRCm39) missense probably damaging 0.99
R8152:Camsap1 UTSW 2 25,830,253 (GRCm39) missense probably damaging 1.00
R8158:Camsap1 UTSW 2 25,834,440 (GRCm39) nonsense probably null
R8325:Camsap1 UTSW 2 25,829,375 (GRCm39) missense probably benign 0.01
R8339:Camsap1 UTSW 2 25,872,817 (GRCm39) missense possibly damaging 0.74
R9187:Camsap1 UTSW 2 25,820,028 (GRCm39) missense probably damaging 1.00
R9379:Camsap1 UTSW 2 25,846,318 (GRCm39) missense
R9419:Camsap1 UTSW 2 25,845,304 (GRCm39) missense
R9525:Camsap1 UTSW 2 25,843,962 (GRCm39) missense probably benign
R9526:Camsap1 UTSW 2 25,843,962 (GRCm39) missense probably benign
R9776:Camsap1 UTSW 2 25,828,166 (GRCm39) missense probably benign 0.00
Z1176:Camsap1 UTSW 2 25,830,893 (GRCm39) missense probably benign 0.01
Z1176:Camsap1 UTSW 2 25,826,651 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16