Incidental Mutation 'IGL02542:Caap1'
ID 297713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Caap1
Ensembl Gene ENSMUSG00000028578
Gene Name caspase activity and apoptosis inhibitor 1
Synonyms 5830433M19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL02542
Quality Score
Status
Chromosome 4
Chromosomal Location 94388318-94445033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94438742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 149 (N149S)
Ref Sequence ENSEMBL: ENSMUSP00000030313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030313]
AlphaFold Q8VDY9
Predicted Effect probably benign
Transcript: ENSMUST00000030313
AA Change: N149S

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030313
Gene: ENSMUSG00000028578
AA Change: N149S

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
low complexity region 33 58 N/A INTRINSIC
low complexity region 60 78 N/A INTRINSIC
Pfam:CAAP1 113 175 3.2e-31 PFAM
low complexity region 254 271 N/A INTRINSIC
coiled coil region 276 303 N/A INTRINSIC
low complexity region 331 337 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153294
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsa2 T A 11: 23,440,559 (GRCm39) T231S possibly damaging Het
Arfgef1 A G 1: 10,243,067 (GRCm39) L1091P probably benign Het
Arhgap32 A T 9: 32,166,944 (GRCm39) K527M probably damaging Het
Cc2d2a A G 5: 43,846,252 (GRCm39) probably benign Het
Cdk13 A T 13: 17,902,763 (GRCm39) I929K probably damaging Het
Fan1 A G 7: 64,014,408 (GRCm39) Y608H probably damaging Het
Foxj3 A G 4: 119,477,540 (GRCm39) N416S unknown Het
Gm20547 T C 17: 35,076,236 (GRCm39) S1151G possibly damaging Het
Ighv1-80 A T 12: 115,876,199 (GRCm39) I39N probably damaging Het
Igkv11-125 A C 6: 67,890,991 (GRCm39) E102A probably damaging Het
Mdc1 C A 17: 36,164,048 (GRCm39) P1199T probably damaging Het
Negr1 T C 3: 156,267,862 (GRCm39) S11P probably damaging Het
Oxsr1 T C 9: 119,071,801 (GRCm39) R477G possibly damaging Het
Pappa T A 4: 65,094,518 (GRCm39) F514L probably damaging Het
Pde6c G T 19: 38,166,578 (GRCm39) D707Y probably damaging Het
Phtf1 T C 3: 103,901,222 (GRCm39) probably benign Het
Piezo2 T A 18: 63,165,995 (GRCm39) I2079F probably damaging Het
Ptprm T C 17: 67,227,145 (GRCm39) D668G probably benign Het
Ptprq T C 10: 107,498,416 (GRCm39) Y887C probably damaging Het
Rax T C 18: 66,071,701 (GRCm39) E62G possibly damaging Het
Rnf25 T C 1: 74,633,260 (GRCm39) E364G probably benign Het
Sipa1l3 A T 7: 29,087,490 (GRCm39) D578E probably damaging Het
Slc14a2 T G 18: 78,252,302 (GRCm39) D3A probably benign Het
Slc28a3 A G 13: 58,721,284 (GRCm39) Y294H probably damaging Het
Slit1 T C 19: 41,615,687 (GRCm39) T811A probably damaging Het
Sorcs2 T C 5: 36,183,286 (GRCm39) T996A probably damaging Het
Tmem132b A C 5: 125,699,558 (GRCm39) Q73P probably damaging Het
Tnrc6b T A 15: 80,786,553 (GRCm39) I1275N possibly damaging Het
Vasp A T 7: 18,998,705 (GRCm39) D17E probably damaging Het
Wdr19 A G 5: 65,388,414 (GRCm39) T700A probably benign Het
Ythdc2 T G 18: 44,973,308 (GRCm39) L315W probably damaging Het
Zfp385c A G 11: 100,520,742 (GRCm39) V306A probably damaging Het
Other mutations in Caap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02040:Caap1 APN 4 94,438,667 (GRCm39) missense probably damaging 0.98
IGL03162:Caap1 APN 4 94,389,261 (GRCm39) utr 3 prime probably benign
R0485:Caap1 UTSW 4 94,438,758 (GRCm39) splice site probably null
R1014:Caap1 UTSW 4 94,437,383 (GRCm39) missense probably benign 0.02
R1570:Caap1 UTSW 4 94,444,814 (GRCm39) missense probably benign 0.27
R3726:Caap1 UTSW 4 94,389,380 (GRCm39) missense probably damaging 0.99
R4745:Caap1 UTSW 4 94,444,751 (GRCm39) splice site probably null
R4815:Caap1 UTSW 4 94,389,497 (GRCm39) missense probably benign 0.01
R4970:Caap1 UTSW 4 94,409,297 (GRCm39) critical splice donor site probably null
R5143:Caap1 UTSW 4 94,389,619 (GRCm39) missense probably damaging 0.98
R5265:Caap1 UTSW 4 94,389,465 (GRCm39) nonsense probably null
R6513:Caap1 UTSW 4 94,389,640 (GRCm39) missense possibly damaging 0.90
R8936:Caap1 UTSW 4 94,389,332 (GRCm39) missense probably damaging 1.00
R9619:Caap1 UTSW 4 94,444,718 (GRCm39) missense possibly damaging 0.85
Posted On 2015-04-16