Incidental Mutation 'IGL01449:Cap1'
ID 84571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cap1
Ensembl Gene ENSMUSG00000028656
Gene Name cyclase associated actin cytoskeleton regulatory protein 1
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # IGL01449
Quality Score
Status
Chromosome 4
Chromosomal Location 122752840-122779849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122753980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 458 (T458A)
Ref Sequence ENSEMBL: ENSMUSP00000101864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030412] [ENSMUST00000069533] [ENSMUST00000106255] [ENSMUST00000106257] [ENSMUST00000120157]
AlphaFold P40124
Predicted Effect probably benign
Transcript: ENSMUST00000030412
SMART Domains Protein: ENSMUSP00000030412
Gene: ENSMUSG00000028657

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Palm_thioest 28 306 3.6e-208 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000069533
AA Change: T458A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068260
Gene: ENSMUSG00000028656
AA Change: T458A

DomainStartEndE-ValueType
Pfam:CAP_N 4 304 1e-129 PFAM
CARP 355 392 2.09e-9 SMART
CARP 393 430 1.18e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106255
AA Change: T458A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101862
Gene: ENSMUSG00000028656
AA Change: T458A

DomainStartEndE-ValueType
Pfam:CAP_N 5 294 4.2e-116 PFAM
CARP 355 392 2.09e-9 SMART
CARP 393 430 1.18e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106257
AA Change: T458A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101864
Gene: ENSMUSG00000028656
AA Change: T458A

DomainStartEndE-ValueType
Pfam:CAP_N 4 304 1e-129 PFAM
CARP 355 392 2.09e-9 SMART
CARP 393 430 1.18e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120157
SMART Domains Protein: ENSMUSP00000113258
Gene: ENSMUSG00000028657

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150919
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The product of this gene plays a role in regulating actin dynamics by binding actin monomers and promoting the turnover of actin filaments. Reduced expression of this gene causes a reduction in actin filament turnover rates, causing multiple defects, including an increase in cell size, stress-fiber alterations, and defects in endocytosis and cell motility. A pseudogene of this gene is found on chromosome 14. Alternative splicing results in multiple transcript variants, but does not affect the protein. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,198,693 (GRCm39) L33F probably benign Het
Actr8 T C 14: 29,712,927 (GRCm39) probably null Het
Aldh16a1 C A 7: 44,791,391 (GRCm39) A105S probably damaging Het
Angpt2 T C 8: 18,760,641 (GRCm39) T154A probably benign Het
BC051665 A G 13: 60,930,518 (GRCm39) V278A probably damaging Het
Clcn3 A T 8: 61,387,632 (GRCm39) S179T probably damaging Het
Cyp2a22 T C 7: 26,632,978 (GRCm39) D408G probably benign Het
Fam217b T A 2: 178,062,943 (GRCm39) S302R probably damaging Het
Fcho2 A T 13: 98,926,315 (GRCm39) D89E probably benign Het
Fnip1 C T 11: 54,390,334 (GRCm39) R434C probably damaging Het
Gga3 G A 11: 115,479,928 (GRCm39) T261M probably damaging Het
Gm21985 T C 2: 112,169,741 (GRCm39) F292L probably damaging Het
Gm43638 A T 5: 87,634,074 (GRCm39) S178T possibly damaging Het
Igkv10-95 G A 6: 68,657,748 (GRCm39) G68E probably damaging Het
Katnip T A 7: 125,469,857 (GRCm39) V1442D probably damaging Het
Lpcat2 G A 8: 93,597,775 (GRCm39) R180Q possibly damaging Het
Muc6 C T 7: 141,218,527 (GRCm39) A1984T possibly damaging Het
Npy4r T A 14: 33,868,322 (GRCm39) Y322F probably damaging Het
Nwd2 T A 5: 63,962,937 (GRCm39) H840Q probably damaging Het
Or7g26 G A 9: 19,230,529 (GRCm39) G233D probably damaging Het
Osbpl2 G T 2: 179,786,987 (GRCm39) probably benign Het
Pclo T A 5: 14,728,530 (GRCm39) probably benign Het
Pold4 T C 19: 4,282,921 (GRCm39) probably benign Het
Ppp1r16a A G 15: 76,578,494 (GRCm39) probably benign Het
Pprc1 C T 19: 46,053,671 (GRCm39) probably benign Het
Prkcg A G 7: 3,368,135 (GRCm39) D343G probably benign Het
Scaf11 A C 15: 96,317,007 (GRCm39) S852R probably benign Het
Slc31a2 C T 4: 62,210,933 (GRCm39) T22I probably damaging Het
Sox30 T A 11: 45,872,169 (GRCm39) D341E probably damaging Het
Tle4 A G 19: 14,442,704 (GRCm39) S339P probably benign Het
Tsg101 A T 7: 46,558,673 (GRCm39) Y78N probably damaging Het
Ttc1 T A 11: 43,629,630 (GRCm39) S179C probably damaging Het
Txnrd3 T A 6: 89,631,129 (GRCm39) S142T probably benign Het
Ubr4 C A 4: 139,140,047 (GRCm39) A1210E probably damaging Het
Uroc1 C A 6: 90,315,635 (GRCm39) P172Q probably damaging Het
Usp12 T C 5: 146,691,250 (GRCm39) D168G probably benign Het
Vmn1r32 T A 6: 66,529,916 (GRCm39) M287L probably benign Het
Vwa8 C T 14: 79,420,428 (GRCm39) Q1710* probably null Het
Wdfy4 T A 14: 32,825,994 (GRCm39) Q1219L probably damaging Het
Zbtb17 A G 4: 141,190,616 (GRCm39) T145A probably benign Het
Zfp697 T C 3: 98,334,846 (GRCm39) C204R probably damaging Het
Other mutations in Cap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02163:Cap1 APN 4 122,756,209 (GRCm39) missense probably benign 0.00
Twotones UTSW 4 122,761,445 (GRCm39) critical splice donor site probably null
wingtips UTSW 4 122,761,516 (GRCm39) missense probably damaging 0.97
R0115:Cap1 UTSW 4 122,756,868 (GRCm39) missense possibly damaging 0.94
R0119:Cap1 UTSW 4 122,761,492 (GRCm39) missense probably damaging 1.00
R0481:Cap1 UTSW 4 122,756,868 (GRCm39) missense possibly damaging 0.94
R0534:Cap1 UTSW 4 122,756,512 (GRCm39) missense probably benign 0.07
R0602:Cap1 UTSW 4 122,766,202 (GRCm39) missense probably damaging 1.00
R0846:Cap1 UTSW 4 122,756,692 (GRCm39) critical splice donor site probably null
R1311:Cap1 UTSW 4 122,759,007 (GRCm39) missense possibly damaging 0.89
R2027:Cap1 UTSW 4 122,756,686 (GRCm39) unclassified probably benign
R2446:Cap1 UTSW 4 122,758,401 (GRCm39) missense probably benign 0.22
R2860:Cap1 UTSW 4 122,758,518 (GRCm39) missense probably benign 0.01
R2861:Cap1 UTSW 4 122,758,518 (GRCm39) missense probably benign 0.01
R2862:Cap1 UTSW 4 122,758,518 (GRCm39) missense probably benign 0.01
R3690:Cap1 UTSW 4 122,758,419 (GRCm39) missense probably damaging 0.98
R3691:Cap1 UTSW 4 122,758,419 (GRCm39) missense probably damaging 0.98
R4089:Cap1 UTSW 4 122,756,202 (GRCm39) missense probably benign 0.05
R4362:Cap1 UTSW 4 122,756,780 (GRCm39) missense probably benign 0.00
R5511:Cap1 UTSW 4 122,756,583 (GRCm39) unclassified probably benign
R6252:Cap1 UTSW 4 122,766,193 (GRCm39) missense probably benign 0.37
R7001:Cap1 UTSW 4 122,758,408 (GRCm39) missense probably benign 0.12
R7709:Cap1 UTSW 4 122,756,467 (GRCm39) missense probably damaging 1.00
R8913:Cap1 UTSW 4 122,761,445 (GRCm39) critical splice donor site probably null
R9121:Cap1 UTSW 4 122,761,516 (GRCm39) missense probably damaging 0.97
R9281:Cap1 UTSW 4 122,766,226 (GRCm39) missense probably benign 0.02
R9563:Cap1 UTSW 4 122,758,505 (GRCm39) missense probably benign
R9565:Cap1 UTSW 4 122,758,505 (GRCm39) missense probably benign
Posted On 2013-11-11