Incidental Mutation 'IGL02285:Camsap1'
ID289963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camsap1
Ensembl Gene ENSMUSG00000026933
Gene Namecalmodulin regulated spectrin-associated protein 1
Synonyms9530003A05Rik, PRO2405
Accession Numbers

Genbank: NM_001115076; MGI: 3036242

Is this an essential gene? Probably non essential (E-score: 0.219) question?
Stock #IGL02285
Quality Score
Status
Chromosome2
Chromosomal Location25926838-25983282 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25929802 bp
ZygosityHeterozygous
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]
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: 126,350,877 V672A possibly damaging Het
Arhgef28 A T 13: 98,051,028 V253D possibly damaging Het
Atg3 G A 16: 45,178,317 probably benign Het
Cdh7 A G 1: 110,138,191 T732A probably damaging Het
Col4a3bp A G 13: 96,616,482 H348R probably benign Het
Cyp3a13 T A 5: 137,909,967 I207F probably benign Het
Dock1 T G 7: 135,081,920 probably null Het
Drc7 A T 8: 95,071,233 probably benign Het
Drosha C A 15: 12,833,864 P18H unknown Het
Fbxl5 A G 5: 43,765,348 S243P possibly damaging Het
Filip1 A G 9: 79,820,126 C404R probably damaging Het
Gm1840 C T 8: 5,640,373 noncoding transcript Het
Gm5745 G A 9: 73,175,498 noncoding transcript Het
Gm7808 T G 9: 19,928,051 probably benign Het
Hcn3 T C 3: 89,152,812 D175G probably damaging Het
Igkv1-117 A T 6: 68,121,535 M23L probably benign Het
Kif26a A G 12: 112,157,507 D182G probably damaging Het
Lmbr1 A G 5: 29,254,235 probably benign Het
Lypd4 T A 7: 24,865,440 Q91L probably damaging Het
Ncoa5 C T 2: 165,002,840 A37T probably damaging Het
Olfr600 G A 7: 103,346,038 R297* probably null Het
Olfr657 A G 7: 104,635,725 E17G probably benign Het
Olfr829 T A 9: 18,856,990 C122S possibly damaging Het
Ppp1r18 A G 17: 35,867,256 K8E probably damaging Het
Ppp3ca A G 3: 136,928,626 probably benign Het
Ptpn12 T A 5: 21,055,713 Q12L probably benign Het
Rpgrip1l A G 8: 91,232,907 F1122L possibly damaging Het
Rps15 G T 10: 80,293,762 M43I probably benign Het
Rrp15 T C 1: 186,721,395 probably benign Het
Sash1 A T 10: 8,740,334 M588K probably damaging Het
Slc12a7 A G 13: 73,795,595 probably benign Het
Slc25a13 A G 6: 6,042,643 V587A possibly damaging Het
Sugct T C 13: 17,672,596 D34G possibly damaging Het
Tdpoz2 T A 3: 93,652,291 I125F probably damaging Het
Trim52 T A 14: 106,107,268 L120Q probably damaging Het
Vmn1r85 T C 7: 13,084,784 I144M probably damaging Het
Vmn2r107 T C 17: 20,375,561 F792S probably damaging Het
Vsnl1 A G 12: 11,386,877 F34L probably damaging Het
Other mutations in Camsap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Camsap1 APN 2 25933623 missense possibly damaging 0.95
IGL01555:Camsap1 APN 2 25939393 missense possibly damaging 0.81
IGL01667:Camsap1 APN 2 25945281 splice site probably benign
IGL02167:Camsap1 APN 2 25934300 missense probably damaging 1.00
IGL02191:Camsap1 APN 2 25929880 missense probably damaging 0.97
IGL02393:Camsap1 APN 2 25938322 missense probably benign 0.10
3-1:Camsap1 UTSW 2 25945178 missense probably damaging 1.00
R0631:Camsap1 UTSW 2 25933647 missense probably damaging 0.98
R0828:Camsap1 UTSW 2 25939085 missense probably damaging 1.00
R1434:Camsap1 UTSW 2 25945178 missense probably damaging 1.00
R1687:Camsap1 UTSW 2 25939615 missense probably damaging 1.00
R2027:Camsap1 UTSW 2 25938526 missense possibly damaging 0.51
R2048:Camsap1 UTSW 2 25929743 missense probably benign 0.00
R3732:Camsap1 UTSW 2 25938344 missense probably damaging 1.00
R4437:Camsap1 UTSW 2 25938646 missense possibly damaging 0.89
R4494:Camsap1 UTSW 2 25952758 missense probably damaging 1.00
R4888:Camsap1 UTSW 2 25935550 missense probably benign 0.03
R5028:Camsap1 UTSW 2 25944556 missense probably damaging 1.00
R5058:Camsap1 UTSW 2 25939363 missense probably benign 0.01
R5105:Camsap1 UTSW 2 25940929 missense probably damaging 1.00
R5121:Camsap1 UTSW 2 25935550 missense probably benign 0.03
R5153:Camsap1 UTSW 2 25933618 missense probably damaging 1.00
R5323:Camsap1 UTSW 2 25965811 missense probably damaging 0.98
R6043:Camsap1 UTSW 2 25929925 missense probably benign 0.00
R6479:Camsap1 UTSW 2 25935862 missense possibly damaging 0.88
R6502:Camsap1 UTSW 2 25956308 missense probably damaging 1.00
R6571:Camsap1 UTSW 2 25939500 missense possibly damaging 0.89
R7046:Camsap1 UTSW 2 25945189 missense probably damaging 0.99
R7251:Camsap1 UTSW 2 25938886 missense probably damaging 0.99
Posted On2015-04-16