Incidental Mutation 'IGL02396:Acin1'
ID 294363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acin1
Ensembl Gene ENSMUSG00000022185
Gene Name apoptotic chromatin condensation inducer 1
Synonyms 2610036I19Rik, 2610510L13Rik, Acinus
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # IGL02396
Quality Score
Status
Chromosome 14
Chromosomal Location 54879618-54924388 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 54882256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022793] [ENSMUST00000022794] [ENSMUST00000067784] [ENSMUST00000111484] [ENSMUST00000123875] [ENSMUST00000126166] [ENSMUST00000141453] [ENSMUST00000150371] [ENSMUST00000148754] [ENSMUST00000167015] [ENSMUST00000169818]
AlphaFold Q9JIX8
Predicted Effect probably benign
Transcript: ENSMUST00000022793
SMART Domains Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
SAP 72 106 1.29e-8 SMART
coiled coil region 138 175 N/A INTRINSIC
low complexity region 205 220 N/A INTRINSIC
coiled coil region 259 300 N/A INTRINSIC
low complexity region 378 396 N/A INTRINSIC
low complexity region 414 423 N/A INTRINSIC
low complexity region 573 603 N/A INTRINSIC
low complexity region 631 662 N/A INTRINSIC
low complexity region 734 743 N/A INTRINSIC
low complexity region 760 773 N/A INTRINSIC
low complexity region 778 792 N/A INTRINSIC
low complexity region 803 813 N/A INTRINSIC
internal_repeat_1 817 892 1.63e-6 PROSPERO
low complexity region 927 952 N/A INTRINSIC
RRM 1012 1081 8.3e-2 SMART
Pfam:RSB_motif 1139 1246 5.7e-30 PFAM
low complexity region 1275 1329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000022794
SMART Domains Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 21 35 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
low complexity region 169 194 N/A INTRINSIC
RRM 254 323 8.3e-2 SMART
low complexity region 355 405 N/A INTRINSIC
low complexity region 412 450 N/A INTRINSIC
PDB:4A8X|B 451 475 4e-6 PDB
low complexity region 477 512 N/A INTRINSIC
low complexity region 517 571 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067784
SMART Domains Protein: ENSMUSP00000066005
Gene: ENSMUSG00000059674

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CA 67 148 7.85e-18 SMART
CA 172 257 3.23e-28 SMART
CA 281 369 4.24e-14 SMART
CA 396 477 1.48e-22 SMART
Blast:CA 500 581 3e-31 BLAST
transmembrane domain 602 624 N/A INTRINSIC
Pfam:Cadherin_C 627 775 2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111484
SMART Domains Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
SAP 72 106 1.29e-8 SMART
coiled coil region 138 172 N/A INTRINSIC
coiled coil region 219 260 N/A INTRINSIC
low complexity region 338 356 N/A INTRINSIC
low complexity region 374 383 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
low complexity region 591 622 N/A INTRINSIC
low complexity region 694 703 N/A INTRINSIC
low complexity region 720 733 N/A INTRINSIC
low complexity region 738 752 N/A INTRINSIC
low complexity region 763 773 N/A INTRINSIC
internal_repeat_1 777 852 1.21e-6 PROSPERO
low complexity region 887 912 N/A INTRINSIC
RRM 972 1041 8.3e-2 SMART
low complexity region 1073 1123 N/A INTRINSIC
low complexity region 1130 1168 N/A INTRINSIC
coiled coil region 1188 1253 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123875
SMART Domains Protein: ENSMUSP00000117210
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
low complexity region 87 101 N/A INTRINSIC
low complexity region 112 122 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124271
Predicted Effect probably benign
Transcript: ENSMUST00000126166
SMART Domains Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
low complexity region 30 40 N/A INTRINSIC
low complexity region 154 179 N/A INTRINSIC
RRM 239 308 8.3e-2 SMART
low complexity region 340 390 N/A INTRINSIC
low complexity region 397 435 N/A INTRINSIC
PDB:4A8X|B 436 460 4e-6 PDB
low complexity region 462 497 N/A INTRINSIC
low complexity region 502 556 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141453
SMART Domains Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
low complexity region 30 40 N/A INTRINSIC
low complexity region 141 166 N/A INTRINSIC
RRM 226 295 8.3e-2 SMART
low complexity region 327 377 N/A INTRINSIC
low complexity region 384 422 N/A INTRINSIC
PDB:4A8X|B 423 447 4e-6 PDB
low complexity region 449 484 N/A INTRINSIC
low complexity region 489 543 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147714
SMART Domains Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
SAP 18 52 1.29e-8 SMART
coiled coil region 83 120 N/A INTRINSIC
low complexity region 151 166 N/A INTRINSIC
coiled coil region 204 245 N/A INTRINSIC
low complexity region 324 342 N/A INTRINSIC
low complexity region 360 369 N/A INTRINSIC
low complexity region 519 549 N/A INTRINSIC
low complexity region 577 608 N/A INTRINSIC
low complexity region 680 689 N/A INTRINSIC
low complexity region 706 719 N/A INTRINSIC
low complexity region 724 738 N/A INTRINSIC
low complexity region 749 759 N/A INTRINSIC
low complexity region 861 886 N/A INTRINSIC
RRM 946 1015 8.3e-2 SMART
Pfam:RSB_motif 1065 1180 1.1e-29 PFAM
low complexity region 1209 1263 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150371
SMART Domains Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
low complexity region 74 88 N/A INTRINSIC
low complexity region 99 109 N/A INTRINSIC
low complexity region 223 248 N/A INTRINSIC
RRM 308 377 8.3e-2 SMART
low complexity region 409 459 N/A INTRINSIC
low complexity region 466 504 N/A INTRINSIC
PDB:4A8X|B 505 529 3e-6 PDB
low complexity region 531 566 N/A INTRINSIC
low complexity region 571 625 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148754
SMART Domains Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 21 35 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
low complexity region 170 195 N/A INTRINSIC
RRM 255 324 8.3e-2 SMART
low complexity region 356 406 N/A INTRINSIC
low complexity region 413 451 N/A INTRINSIC
PDB:4A8X|B 452 476 4e-6 PDB
low complexity region 478 513 N/A INTRINSIC
low complexity region 518 572 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151487
Predicted Effect probably benign
Transcript: ENSMUST00000167015
SMART Domains Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
low complexity region 21 35 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
low complexity region 170 195 N/A INTRINSIC
RRM 255 324 8.3e-2 SMART
low complexity region 356 406 N/A INTRINSIC
low complexity region 413 451 N/A INTRINSIC
PDB:4A8X|B 452 476 4e-6 PDB
low complexity region 478 513 N/A INTRINSIC
low complexity region 518 572 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152773
Predicted Effect probably benign
Transcript: ENSMUST00000138321
SMART Domains Protein: ENSMUSP00000119326
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
Pfam:RSB_motif 20 128 4.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196776
Predicted Effect probably benign
Transcript: ENSMUST00000169818
SMART Domains Protein: ENSMUSP00000131860
Gene: ENSMUSG00000091306

DomainStartEndE-ValueType
low complexity region 1 61 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bhmt1b A G 18: 87,774,780 (GRCm39) E101G possibly damaging Het
Bmp3 C A 5: 99,020,578 (GRCm39) Q334K possibly damaging Het
Bnc2 G T 4: 84,194,246 (GRCm39) S1026R probably benign Het
Bsn C T 9: 107,993,245 (GRCm39) G836S possibly damaging Het
Cand2 A G 6: 115,768,149 (GRCm39) probably benign Het
Ccdc24 T C 4: 117,726,826 (GRCm39) T296A possibly damaging Het
Ccdc38 A G 10: 93,409,994 (GRCm39) N271S possibly damaging Het
Ccdc81 T G 7: 89,530,857 (GRCm39) I362L probably benign Het
Cdhr3 T A 12: 33,095,195 (GRCm39) I625F possibly damaging Het
Col12a1 T A 9: 79,569,865 (GRCm39) R1568S probably benign Het
Cpeb4 T A 11: 31,875,441 (GRCm39) S547T probably benign Het
Dennd4c T A 4: 86,743,237 (GRCm39) N1075K probably damaging Het
Esrra C A 19: 6,889,373 (GRCm39) V339L probably benign Het
Ghr A T 15: 3,487,480 (GRCm39) M1K probably null Het
Gm4987 T A X: 45,544,991 (GRCm39) noncoding transcript Het
Golga2 G T 2: 32,188,656 (GRCm39) probably benign Het
Gys1 T A 7: 45,089,012 (GRCm39) I137N probably damaging Het
Hs3st5 A T 10: 36,704,699 (GRCm39) M1L probably benign Het
Hsd3b5 T A 3: 98,529,343 (GRCm39) T96S probably benign Het
Ighv6-3 T C 12: 114,355,356 (GRCm39) D111G probably damaging Het
Immp1l T A 2: 105,767,351 (GRCm39) I70N probably damaging Het
Ints4 G A 7: 97,187,107 (GRCm39) V866I possibly damaging Het
Large2 G T 2: 92,196,668 (GRCm39) Y529* probably null Het
Maf1 C A 15: 76,237,457 (GRCm39) Y166* probably null Het
Manba T A 3: 135,250,525 (GRCm39) M384K probably damaging Het
Mapk4 C A 18: 74,067,068 (GRCm39) probably null Het
Mc5r T C 18: 68,472,537 (GRCm39) S299P possibly damaging Het
Mdn1 T A 4: 32,700,120 (GRCm39) N1404K probably damaging Het
Milr1 C A 11: 106,656,065 (GRCm39) Y212* probably null Het
Ncor2 A G 5: 125,114,978 (GRCm39) S1115P probably damaging Het
Or10ag57 A T 2: 87,218,049 (GRCm39) probably benign Het
Or4f61 C A 2: 111,922,812 (GRCm39) C78F probably benign Het
Osbpl7 T G 11: 96,946,377 (GRCm39) L158R probably damaging Het
Psmd4 A T 3: 94,943,221 (GRCm39) L61Q probably damaging Het
Rassf9 A T 10: 102,381,554 (GRCm39) N310I possibly damaging Het
Rpl21-ps6 A G 17: 56,222,400 (GRCm39) noncoding transcript Het
Slc31a2 T C 4: 62,215,310 (GRCm39) I119T probably damaging Het
Srgap2 C A 1: 131,220,413 (GRCm39) C187F probably damaging Het
Tekt5 C A 16: 10,196,931 (GRCm39) A307S probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Ttn A G 2: 76,775,432 (GRCm39) V1916A unknown Het
Wee1 T G 7: 109,741,300 (GRCm39) V641G probably damaging Het
Zfand6 G A 7: 84,267,111 (GRCm39) P157L probably damaging Het
Other mutations in Acin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:Acin1 APN 14 54,884,257 (GRCm39) missense probably damaging 1.00
IGL01530:Acin1 APN 14 54,881,443 (GRCm39) missense probably damaging 1.00
IGL02967:Acin1 APN 14 54,880,210 (GRCm39) missense possibly damaging 0.80
Protuberant UTSW 14 54,882,740 (GRCm39) missense probably damaging 1.00
R0411:Acin1 UTSW 14 54,884,231 (GRCm39) missense probably damaging 1.00
R0723:Acin1 UTSW 14 54,902,908 (GRCm39) missense probably damaging 0.98
R0755:Acin1 UTSW 14 54,889,292 (GRCm39) start codon destroyed probably null 0.93
R0784:Acin1 UTSW 14 54,890,985 (GRCm39) unclassified probably benign
R1600:Acin1 UTSW 14 54,881,174 (GRCm39) intron probably benign
R1682:Acin1 UTSW 14 54,901,175 (GRCm39) missense probably damaging 1.00
R1721:Acin1 UTSW 14 54,901,995 (GRCm39) missense probably benign 0.01
R1756:Acin1 UTSW 14 54,902,661 (GRCm39) missense probably benign 0.30
R1867:Acin1 UTSW 14 54,881,718 (GRCm39) missense probably damaging 1.00
R1997:Acin1 UTSW 14 54,884,156 (GRCm39) splice site probably null
R2067:Acin1 UTSW 14 54,902,711 (GRCm39) missense probably damaging 1.00
R3947:Acin1 UTSW 14 54,916,790 (GRCm39) missense possibly damaging 0.89
R4374:Acin1 UTSW 14 54,891,351 (GRCm39) unclassified probably benign
R4476:Acin1 UTSW 14 54,882,787 (GRCm39) missense probably damaging 1.00
R4501:Acin1 UTSW 14 54,924,044 (GRCm39) missense probably damaging 1.00
R4547:Acin1 UTSW 14 54,883,124 (GRCm39) missense probably benign 0.01
R4621:Acin1 UTSW 14 54,890,900 (GRCm39) unclassified probably benign
R4657:Acin1 UTSW 14 54,880,504 (GRCm39) missense possibly damaging 0.93
R4680:Acin1 UTSW 14 54,924,215 (GRCm39) missense probably benign 0.00
R4696:Acin1 UTSW 14 54,880,474 (GRCm39) intron probably benign
R4806:Acin1 UTSW 14 54,916,685 (GRCm39) splice site probably benign
R4826:Acin1 UTSW 14 54,902,074 (GRCm39) missense probably damaging 0.97
R5096:Acin1 UTSW 14 54,916,679 (GRCm39) intron probably benign
R5153:Acin1 UTSW 14 54,883,070 (GRCm39) missense probably benign 0.25
R5223:Acin1 UTSW 14 54,880,398 (GRCm39) frame shift probably null
R5260:Acin1 UTSW 14 54,880,279 (GRCm39) intron probably benign
R5525:Acin1 UTSW 14 54,901,848 (GRCm39) missense possibly damaging 0.94
R5575:Acin1 UTSW 14 54,916,195 (GRCm39) splice site probably null
R5902:Acin1 UTSW 14 54,901,130 (GRCm39) missense probably benign 0.01
R6211:Acin1 UTSW 14 54,881,503 (GRCm39) missense probably damaging 1.00
R6524:Acin1 UTSW 14 54,882,740 (GRCm39) missense probably damaging 1.00
R6560:Acin1 UTSW 14 54,916,290 (GRCm39) missense probably benign 0.24
R6916:Acin1 UTSW 14 54,902,873 (GRCm39) missense probably benign 0.27
R7201:Acin1 UTSW 14 54,902,356 (GRCm39) missense possibly damaging 0.83
R7833:Acin1 UTSW 14 54,902,059 (GRCm39) missense possibly damaging 0.83
R8096:Acin1 UTSW 14 54,882,726 (GRCm39) missense possibly damaging 0.80
R8167:Acin1 UTSW 14 54,902,337 (GRCm39) missense probably benign 0.01
R8421:Acin1 UTSW 14 54,880,486 (GRCm39) missense unknown
R8771:Acin1 UTSW 14 54,880,496 (GRCm39) missense unknown
R8862:Acin1 UTSW 14 54,901,172 (GRCm39) missense probably benign 0.00
R9645:Acin1 UTSW 14 54,901,913 (GRCm39) missense probably benign 0.16
R9755:Acin1 UTSW 14 54,889,292 (GRCm39) missense probably damaging 0.99
X0021:Acin1 UTSW 14 54,904,558 (GRCm39) missense probably damaging 1.00
Z1177:Acin1 UTSW 14 54,880,207 (GRCm39) missense unknown
Posted On 2015-04-16