Incidental Mutation 'R8158:Camsap1'
ID 633343
Institutional Source Beutler Lab
Gene Symbol Camsap1
Ensembl Gene ENSMUSG00000026933
Gene Name calmodulin regulated spectrin-associated protein 1
Synonyms 9530003A05Rik, PRO2405
MMRRC Submission 067584-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R8158 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25816850-25873294 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 25834440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 406 (C406*)
Ref Sequence ENSEMBL: ENSMUSP00000109804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091268] [ENSMUST00000114167] [ENSMUST00000134882] [ENSMUST00000183461]
AlphaFold A2AHC3
Predicted Effect probably null
Transcript: ENSMUST00000091268
AA Change: C406*
SMART Domains Protein: ENSMUSP00000088812
Gene: ENSMUSG00000026933
AA Change: C406*

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 null
Transcript: ENSMUST00000114167
AA Change: C406*
SMART Domains Protein: ENSMUSP00000109804
Gene: ENSMUSG00000026933
AA Change: C406*

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 null
Transcript: ENSMUST00000134882
AA Change: C426*
SMART Domains Protein: ENSMUSP00000117203
Gene: ENSMUSG00000026933
AA Change: C426*

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 null
Transcript: ENSMUST00000183461
AA Change: C406*
SMART Domains Protein: ENSMUSP00000139028
Gene: ENSMUSG00000026933
AA Change: C406*

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T A 1: 156,469,639 (GRCm39) S968T probably benign Het
Adcy8 T C 15: 64,655,655 (GRCm39) D608G probably benign Het
Adgb C T 10: 10,254,478 (GRCm39) V1162M probably benign Het
Agrn A G 4: 156,258,346 (GRCm39) V1040A probably benign Het
Amer3 A T 1: 34,626,741 (GRCm39) T327S possibly damaging Het
Apaf1 C T 10: 90,895,520 (GRCm39) C426Y probably benign Het
Bsn T C 9: 107,987,232 (GRCm39) D2840G unknown Het
Cbr2 A T 11: 120,621,123 (GRCm39) M158K probably damaging Het
Cgrrf1 T C 14: 47,091,192 (GRCm39) S239P probably benign Het
Clnk C A 5: 38,952,254 (GRCm39) probably null Het
Csad T C 15: 102,086,197 (GRCm39) M445V probably damaging Het
Dnajb7 T A 15: 81,291,600 (GRCm39) N246Y probably damaging Het
Dok6 T C 18: 89,492,071 (GRCm39) I169V probably benign Het
H2bc14 T C 13: 21,906,631 (GRCm39) Y122H probably benign Het
Il1f10 T G 2: 24,181,267 (GRCm39) I11R possibly damaging Het
Irs1 C T 1: 82,267,254 (GRCm39) V321M probably damaging Het
Itga9 T C 9: 118,706,211 (GRCm39) F938L probably damaging Het
Kif7 T C 7: 79,354,442 (GRCm39) D781G probably damaging Het
Klhl41 A T 2: 69,501,505 (GRCm39) N322I probably damaging Het
Krtap31-1 T G 11: 99,798,901 (GRCm39) C35G possibly damaging Het
Lsm11 A T 11: 45,824,824 (GRCm39) D234E probably benign Het
Med6 T C 12: 81,620,677 (GRCm39) K223R probably benign Het
Mfsd4b2 G A 10: 39,798,064 (GRCm39) T97I probably benign Het
Mrgpra1 A T 7: 46,985,204 (GRCm39) C158* probably null Het
Nr2e1 T C 10: 42,458,881 (GRCm39) T8A probably benign Het
Oas2 T C 5: 120,887,838 (GRCm39) M1V probably null Het
Or13a27 T C 7: 139,925,162 (GRCm39) I247V probably benign Het
Or14a260 T A 7: 85,984,885 (GRCm39) I240F probably benign Het
Or1e33 T A 11: 73,738,697 (GRCm39) M85L probably benign Het
Or8k17 T C 2: 86,066,504 (GRCm39) Y218C probably damaging Het
Or8w1 T A 2: 87,465,233 (GRCm39) N286I probably damaging Het
Otof C T 5: 30,537,538 (GRCm39) G1257D probably benign Het
Phf2 T C 13: 48,971,236 (GRCm39) T479A probably benign Het
Pik3c2a T C 7: 115,942,232 (GRCm39) N1516S probably benign Het
Qrich1 C A 9: 108,433,236 (GRCm39) T622K probably damaging Het
Rasip1 A G 7: 45,281,943 (GRCm39) K482R probably damaging Het
Rgl2 T C 17: 34,155,918 (GRCm39) F698L probably benign Het
Scarb1 T C 5: 125,380,201 (GRCm39) D124G probably benign Het
Sclt1 A G 3: 41,625,917 (GRCm39) I350T probably benign Het
Sec23ip T G 7: 128,369,364 (GRCm39) V696G probably damaging Het
Serpina1e G T 12: 103,917,354 (GRCm39) T105K probably benign Het
Sin3a A G 9: 57,020,828 (GRCm39) probably null Het
Slc34a2 A G 5: 53,218,182 (GRCm39) T154A probably damaging Het
Slc9a3 T C 13: 74,303,241 (GRCm39) L178P probably damaging Het
Smarca2 A C 19: 26,659,448 (GRCm39) I913L probably benign Het
Spaca7b T A 8: 11,715,056 (GRCm39) D46V probably damaging Het
Tcea3 G A 4: 136,001,027 (GRCm39) probably null Het
Tektl1 G C 10: 78,584,509 (GRCm39) Q338E probably benign Het
Tmcc1 T A 6: 116,020,435 (GRCm39) H339L Het
Trpm2 G T 10: 77,783,731 (GRCm39) H247Q probably damaging Het
Tyr T A 7: 87,121,724 (GRCm39) D356V probably damaging Het
Vmn2r54 A T 7: 12,349,888 (GRCm39) C565S probably damaging Het
Vmn2r82 A C 10: 79,213,636 (GRCm39) N74T probably benign Het
Zcchc4 T C 5: 52,973,260 (GRCm39) Y375H probably damaging Het
Zfhx3 T A 8: 109,675,353 (GRCm39) D2134E possibly damaging Het
Zfhx4 T A 3: 5,464,010 (GRCm39) Y1414* probably null Het
Zfp282 A T 6: 47,867,626 (GRCm39) E267D possibly damaging Het
Zfp442 A T 2: 150,251,096 (GRCm39) C269S possibly damaging Het
Zp3 T A 5: 136,014,418 (GRCm39) S246T probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AGACTGAGTGCTCCAGGAAC -3'
(R):5'- TTTCCATGGTTCTAAAGGCTATAGG -3'

Sequencing Primer
(F):5'- TGCTCCAGGAACAGGCAG -3'
(R):5'- CTGTAGCTAAAACAGTGTTACAGCAG -3'
Posted On 2020-06-30