Incidental Mutation 'IGL01324:Camsap1'
ID 74188
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 # IGL01324
Quality Score
Status
Chromosome 2
Chromosomal Location 25816850-25873294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25823635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 1472 (V1472L)
Ref Sequence ENSEMBL: ENSMUSP00000139028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000183461]
AlphaFold A2AHC3
Predicted Effect possibly damaging
Transcript: ENSMUST00000091268
AA Change: V1472L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: V1472L

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 possibly damaging
Transcript: ENSMUST00000114167
AA Change: V1472L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: V1472L

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: 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 noncoding transcript
Transcript: ENSMUST00000134970
Predicted Effect probably benign
Transcript: ENSMUST00000143977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148146
Predicted Effect possibly damaging
Transcript: ENSMUST00000183461
AA Change: V1472L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: V1472L

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 8,980,396 (GRCm39) G560D probably damaging Het
Ap1g1 T A 8: 110,559,414 (GRCm39) D239E possibly damaging Het
Ap2a1 T A 7: 44,555,120 (GRCm39) T482S probably damaging Het
BC004004 T C 17: 29,501,225 (GRCm39) L58P probably damaging Het
Ces3b A T 8: 105,819,884 (GRCm39) E569V probably damaging Het
Commd6 G A 14: 101,877,738 (GRCm39) probably benign Het
Ddx54 A G 5: 120,761,703 (GRCm39) D493G probably benign Het
Dync1h1 C T 12: 110,593,299 (GRCm39) R1189C probably damaging Het
Ern2 T A 7: 121,782,413 (GRCm39) I68F possibly damaging Het
Eya4 A G 10: 22,992,449 (GRCm39) probably null Het
Gda A T 19: 21,387,250 (GRCm39) I325K probably damaging Het
Gmnn T C 13: 24,936,105 (GRCm39) T190A probably benign Het
Hdac4 G A 1: 91,887,137 (GRCm39) P801S probably damaging Het
Hnrnph3 A T 10: 62,853,903 (GRCm39) *72K probably null Het
Hoxd12 A T 2: 74,505,480 (GRCm39) N17I probably damaging Het
Incenp G A 19: 9,861,092 (GRCm39) R497C unknown Het
Iqsec1 C A 6: 90,666,685 (GRCm39) R584L probably damaging Het
Kcnip1 A G 11: 33,595,603 (GRCm39) M1T probably null Het
Kcnu1 T A 8: 26,339,735 (GRCm39) S18T probably benign Het
Lepr T A 4: 101,625,265 (GRCm39) D473E probably benign Het
Nfkbiz T C 16: 55,636,167 (GRCm39) T564A probably damaging Het
Nsd3 C T 8: 26,152,836 (GRCm39) T392I probably damaging Het
Or10a5 T C 7: 106,636,054 (GRCm39) S231P probably damaging Het
Or10w1 T C 19: 13,632,297 (GRCm39) I163T probably damaging Het
P4ha2 A G 11: 54,010,984 (GRCm39) D333G probably damaging Het
Parg T C 14: 32,018,142 (GRCm39) probably benign Het
Psmc2 G A 5: 22,005,007 (GRCm39) probably null Het
Rnf213 A G 11: 119,338,063 (GRCm39) Y3354C probably damaging Het
Siglec1 T G 2: 130,927,461 (GRCm39) D115A probably damaging Het
Slit3 G T 11: 35,501,529 (GRCm39) G421V probably damaging Het
Srgap3 T A 6: 112,716,358 (GRCm39) H590L probably damaging Het
Stk36 A C 1: 74,664,769 (GRCm39) T628P possibly damaging Het
Stx12 A T 4: 132,590,576 (GRCm39) M107K probably benign Het
Syne2 G T 12: 76,090,526 (GRCm39) V5105F probably damaging Het
Tecta T C 9: 42,256,727 (GRCm39) S1650G probably damaging Het
Tlr1 T C 5: 65,082,522 (GRCm39) N685S probably damaging Het
Trio A G 15: 27,905,409 (GRCm39) V60A probably benign Het
Ttyh3 G A 5: 140,617,268 (GRCm39) R334W probably benign Het
Ube2u A G 4: 100,336,422 (GRCm39) E15G possibly damaging Het
Ush2a G T 1: 188,581,189 (GRCm39) V3690L probably benign Het
Xab2 A G 8: 3,671,232 (GRCm39) V16A possibly damaging Het
Other mutations in Camsap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-10-07