Incidental Mutation 'R8771:Acin1'
ID 664425
Institutional Source Beutler Lab
Gene Symbol Acin1
Ensembl Gene ENSMUSG00000022185
Gene Name apoptotic chromatin condensation inducer 1
Synonyms 2610036I19Rik, 2610510L13Rik, Acinus
MMRRC Submission 068602-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R8771 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 54879618-54924388 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54880496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1236 (K1236E)
Ref Sequence ENSEMBL: ENSMUSP00000022793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022793] [ENSMUST00000022794] [ENSMUST00000067784] [ENSMUST00000111484] [ENSMUST00000123875] [ENSMUST00000126166] [ENSMUST00000141453] [ENSMUST00000148754] [ENSMUST00000150371] [ENSMUST00000167015] [ENSMUST00000169818]
AlphaFold Q9JIX8
Predicted Effect unknown
Transcript: ENSMUST00000022793
AA Change: K1236E
SMART Domains Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: K1236E

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 unknown
Transcript: ENSMUST00000022794
AA Change: K478E
SMART Domains Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185
AA Change: K478E

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 unknown
Transcript: ENSMUST00000111484
AA Change: K1196E
SMART Domains Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: K1196E

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 unknown
Transcript: ENSMUST00000126166
AA Change: K463E
SMART Domains Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185
AA Change: K463E

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: ENSMUST00000138321
SMART Domains Protein: ENSMUSP00000119326
Gene: ENSMUSG00000022185

DomainStartEndE-ValueType
Pfam:RSB_motif 20 128 4.7e-23 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000141453
AA Change: K450E
SMART Domains Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185
AA Change: K450E

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
SMART Domains Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: K1169E

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 unknown
Transcript: ENSMUST00000148754
AA Change: K479E
SMART Domains Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185
AA Change: K479E

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 unknown
Transcript: ENSMUST00000150371
AA Change: K532E
SMART Domains Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185
AA Change: K532E

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 unknown
Transcript: ENSMUST00000167015
AA Change: K479E
SMART Domains Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185
AA Change: K479E

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 probably benign
Transcript: ENSMUST00000169818
SMART Domains Protein: ENSMUSP00000131860
Gene: ENSMUSG00000091306

DomainStartEndE-ValueType
low complexity region 1 61 N/A INTRINSIC
Meta Mutation Damage Score 0.0748 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (47/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,880,320 (GRCm39) I451T probably damaging Het
AI661453 T C 17: 47,777,683 (GRCm39) S470P unknown Het
Ano5 C A 7: 51,216,095 (GRCm39) N357K probably damaging Het
Ano5 C T 7: 51,220,047 (GRCm39) Q396* probably null Het
Baz1b T A 5: 135,273,151 (GRCm39) M1425K probably benign Het
Cdh22 A T 2: 164,988,689 (GRCm39) V222E possibly damaging Het
Celsr1 A T 15: 85,788,175 (GRCm39) S2692R probably benign Het
Ces5a A G 8: 94,255,249 (GRCm39) I144T possibly damaging Het
D5Ertd579e T A 5: 36,761,940 (GRCm39) N1309I probably damaging Het
Dnmt3b C T 2: 153,504,734 (GRCm39) T112M possibly damaging Het
Eif4g3 C T 4: 137,907,848 (GRCm39) Q1283* probably null Het
Etnppl T A 3: 130,414,024 (GRCm39) M41K probably damaging Het
Hhatl G A 9: 121,617,776 (GRCm39) T271I possibly damaging Het
Igkv5-37 A G 6: 69,940,423 (GRCm39) S74P probably damaging Het
Krt87 A G 15: 101,385,779 (GRCm39) V272A probably benign Het
Lgr6 A T 1: 134,933,429 (GRCm39) L262* probably null Het
Lrriq3 G A 3: 154,899,270 (GRCm39) V590I probably damaging Het
Mfsd13a T C 19: 46,360,668 (GRCm39) V382A probably damaging Het
Minar2 T C 18: 59,200,052 (GRCm39) probably benign Het
Mrc2 A G 11: 105,240,596 (GRCm39) T1429A probably benign Het
Mroh5 A T 15: 73,693,203 (GRCm39) M79K possibly damaging Het
Myo1c A G 11: 75,556,709 (GRCm39) K553R probably benign Het
Nbeal1 A G 1: 60,300,743 (GRCm39) T1488A probably benign Het
Or4c12 T C 2: 89,773,565 (GRCm39) K298R probably benign Het
Or5aq6 T C 2: 86,923,294 (GRCm39) Y149C probably benign Het
Or5m10b T G 2: 85,699,712 (GRCm39) Y259D probably damaging Het
Or5p76 T A 7: 108,122,632 (GRCm39) N175I possibly damaging Het
Prl7a1 A T 13: 27,819,811 (GRCm39) W148R probably damaging Het
Ptpn2 G T 18: 67,805,659 (GRCm39) T402K probably benign Het
Ptprf A G 4: 118,068,987 (GRCm39) M1665T possibly damaging Het
Raet1e G T 10: 22,057,041 (GRCm39) V122F probably damaging Het
Serpina3m A G 12: 104,357,841 (GRCm39) E255G probably damaging Het
Sorcs2 T C 5: 36,188,624 (GRCm39) Y828C probably damaging Het
Sprr1a T A 3: 92,391,989 (GRCm39) H4L probably benign Het
Sptssa A G 12: 54,703,211 (GRCm39) Y20H probably damaging Het
Synpo2l A G 14: 20,710,491 (GRCm39) S939P probably damaging Het
Tdrd7 T C 4: 46,010,800 (GRCm39) V568A probably damaging Het
Tmem132c C T 5: 127,437,192 (GRCm39) P227L probably benign Het
Tmtc3 A G 10: 100,286,180 (GRCm39) S548P possibly damaging Het
Trip12 A T 1: 84,721,018 (GRCm39) probably benign Het
Ttll6 A G 11: 96,042,762 (GRCm39) Y436C probably damaging Het
Unc80 A G 1: 66,685,554 (GRCm39) D2226G possibly damaging Het
Vmn1r142 T C 7: 21,862,737 (GRCm39) M242V probably benign Het
Vmn2r12 T G 5: 109,239,952 (GRCm39) T204P possibly damaging Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r61 C A 7: 41,916,194 (GRCm39) A269D probably damaging Het
Zfp148 A G 16: 33,317,656 (GRCm39) D776G possibly damaging Het
Zfp775 A T 6: 48,596,906 (GRCm39) Q260L probably benign 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
IGL02396:Acin1 APN 14 54,882,256 (GRCm39) intron probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TACAGGTGTGCTTCGACTCC -3'
(R):5'- AGCCCTACCATGCATTAAGGATG -3'

Sequencing Primer
(F):5'- GACTCCGGCTTCTGCTGTG -3'
(R):5'- CCTACCATGCATTAAGGATGTTGGTG -3'
Posted On 2021-03-08