Incidental Mutation 'IGL01667:Camsap1'
ID 103357
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 # IGL01667
Quality Score
Status
Chromosome 2
Chromosomal Location 25816850-25873294 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 25835293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000183461]
AlphaFold A2AHC3
Predicted Effect probably benign
Transcript: ENSMUST00000091268
SMART Domains Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933

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 benign
Transcript: ENSMUST00000114167
SMART Domains Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933

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 probably benign
Transcript: ENSMUST00000134054
SMART Domains Protein: ENSMUSP00000121689
Gene: ENSMUSG00000026933

DomainStartEndE-ValueType
Blast:Beach 40 100 5e-6 BLAST
Pfam:CAMSAP_CH 170 253 1.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134882
SMART Domains Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933

DomainStartEndE-ValueType
Pfam:CH 185 350 1.3e-33 PFAM
Pfam:CAMSAP_CH 248 331 2.6e-34 PFAM
low complexity region 752 767 N/A INTRINSIC
low complexity region 812 827 N/A INTRINSIC
low complexity region 846 857 N/A INTRINSIC
coiled coil region 889 925 N/A INTRINSIC
coiled coil region 1030 1057 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142028
SMART Domains Protein: ENSMUSP00000119296
Gene: ENSMUSG00000026933

DomainStartEndE-ValueType
Pfam:CAMSAP_CH 101 164 7.5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143977
Predicted Effect probably benign
Transcript: ENSMUST00000151593
SMART Domains Protein: ENSMUSP00000123541
Gene: ENSMUSG00000026933

DomainStartEndE-ValueType
Pfam:CAMSAP_CH 88 171 5.7e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183461
SMART Domains Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,219,767 (GRCm39) T57A probably damaging Het
Akna G T 4: 63,297,396 (GRCm39) T886N probably benign Het
Aqp9 A G 9: 71,045,495 (GRCm39) V38A probably benign Het
Awat2 C T X: 99,447,860 (GRCm39) G124D probably damaging Het
Catsperg2 T C 7: 29,409,558 (GRCm39) Y545C probably damaging Het
Cldn23 A G 8: 36,293,074 (GRCm39) F138S possibly damaging Het
Clec4a3 A C 6: 122,929,819 (GRCm39) probably benign Het
Dlgap3 C A 4: 127,127,690 (GRCm39) T786K probably benign Het
Dnah2 A C 11: 69,435,221 (GRCm39) S50A probably benign Het
Dnah2 A T 11: 69,411,767 (GRCm39) I285N probably damaging Het
Dnah7a A G 1: 53,586,451 (GRCm39) Y1467H probably damaging Het
Fgf22 C T 10: 79,592,588 (GRCm39) P115L probably damaging Het
Fzd2 G T 11: 102,496,608 (GRCm39) V351L possibly damaging Het
Gapdhs T A 7: 30,436,062 (GRCm39) E174V possibly damaging Het
Gjc2 A C 11: 59,068,344 (GRCm39) I46S probably damaging Het
Gm5581 T C 6: 131,144,735 (GRCm39) noncoding transcript Het
Krt1c C A 15: 101,724,765 (GRCm39) V282L possibly damaging Het
Myh15 G A 16: 49,015,942 (GRCm39) V1873M probably benign Het
Myo1b T C 1: 51,799,536 (GRCm39) T931A probably damaging Het
Myo6 A T 9: 80,197,175 (GRCm39) K965N unknown Het
Or5a3 T C 19: 12,400,120 (GRCm39) V149A probably benign Het
Pcnx3 T C 19: 5,736,658 (GRCm39) R160G probably benign Het
Slc22a16 T C 10: 40,461,014 (GRCm39) I272T probably damaging Het
Slc35b4 A G 6: 34,144,610 (GRCm39) Y82H possibly damaging Het
Spdya T C 17: 71,863,254 (GRCm39) M1T probably null Het
St6gal1 A G 16: 23,140,174 (GRCm39) N115S probably benign Het
Tbc1d12 A T 19: 38,902,744 (GRCm39) probably benign Het
Tfrc A G 16: 32,443,261 (GRCm39) probably benign Het
Trip11 A C 12: 101,845,121 (GRCm39) F1539C probably damaging Het
Ttn A T 2: 76,611,422 (GRCm39) I15624N possibly damaging Het
Vmn1r169 A T 7: 23,277,225 (GRCm39) M206L probably benign Het
Zfp362 A G 4: 128,680,902 (GRCm39) L141P probably damaging Het
Zfp692 A G 11: 58,202,379 (GRCm39) H378R probably damaging Het
Zfp799 T C 17: 33,040,794 (GRCm39) Q52R possibly 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
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
IGL02285:Camsap1 APN 2 25,819,814 (GRCm39) missense probably damaging 1.00
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 2014-01-21