Incidental Mutation 'R4374:Acin1'
ID |
325044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acin1
|
Ensembl Gene |
ENSMUSG00000022185 |
Gene Name |
apoptotic chromatin condensation inducer 1 |
Synonyms |
2610036I19Rik, 2610510L13Rik, Acinus |
MMRRC Submission |
041118-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R4374 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
54879618-54924388 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 54891351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022793]
[ENSMUST00000022794]
[ENSMUST00000111484]
[ENSMUST00000123875]
[ENSMUST00000126166]
[ENSMUST00000141453]
[ENSMUST00000148754]
[ENSMUST00000167015]
[ENSMUST00000150371]
|
AlphaFold |
Q9JIX8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022793
|
SMART Domains |
Protein: ENSMUSP00000022793 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: ENSMUST00000111484
|
SMART Domains |
Protein: ENSMUSP00000107109 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
probably benign
Transcript: ENSMUST00000126166
|
SMART Domains |
Protein: ENSMUSP00000114546 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
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 |
noncoding transcript
Transcript: ENSMUST00000129700
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167495
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149713
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170299
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137763
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147714
|
SMART Domains |
Protein: ENSMUSP00000119080 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
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: ENSMUST00000141453
|
SMART Domains |
Protein: ENSMUSP00000116664 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
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: ENSMUST00000148754
|
SMART Domains |
Protein: ENSMUSP00000122003 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
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: ENSMUST00000167015
|
SMART Domains |
Protein: ENSMUSP00000125776 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
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: ENSMUST00000150371
|
SMART Domains |
Protein: ENSMUSP00000118069 Gene: ENSMUSG00000022185
Domain | Start | End | E-Value | Type |
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (38/39) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd2 |
A |
G |
7: 78,973,278 (GRCm39) |
M86V |
probably benign |
Het |
Aebp2 |
T |
A |
6: 140,599,984 (GRCm39) |
|
probably benign |
Het |
Akap13 |
A |
G |
7: 75,258,732 (GRCm39) |
E452G |
probably damaging |
Het |
Amz1 |
T |
C |
5: 140,738,194 (GRCm39) |
S184P |
possibly damaging |
Het |
Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
Ccdc83 |
A |
T |
7: 89,875,986 (GRCm39) |
L295* |
probably null |
Het |
Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
Cpsf7 |
A |
T |
19: 10,517,001 (GRCm39) |
I368F |
probably damaging |
Het |
Csf1r |
G |
A |
18: 61,252,078 (GRCm39) |
C520Y |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,867,498 (GRCm39) |
D235G |
probably benign |
Het |
Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
Fktn |
T |
C |
4: 53,720,201 (GRCm39) |
S72P |
probably damaging |
Het |
Frem2 |
C |
A |
3: 53,452,923 (GRCm39) |
V2189F |
possibly damaging |
Het |
Gm10845 |
G |
T |
14: 80,100,563 (GRCm39) |
|
noncoding transcript |
Het |
Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,111,513 (GRCm39) |
M2255V |
probably benign |
Het |
Lrsam1 |
G |
T |
2: 32,845,203 (GRCm39) |
T104K |
possibly damaging |
Het |
Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
Myo7a |
G |
A |
7: 97,751,881 (GRCm39) |
T54M |
probably damaging |
Het |
Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
Or5k15 |
A |
C |
16: 58,710,242 (GRCm39) |
C114G |
probably benign |
Het |
Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
Pfkp |
A |
G |
13: 6,671,025 (GRCm39) |
S135P |
probably damaging |
Het |
Phf20l1 |
C |
T |
15: 66,476,686 (GRCm39) |
T260I |
possibly damaging |
Het |
Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
Ppp6r2 |
T |
G |
15: 89,149,361 (GRCm39) |
C216W |
probably damaging |
Het |
Pramel7 |
C |
T |
2: 87,320,415 (GRCm39) |
A293T |
probably benign |
Het |
Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
Setbp1 |
T |
C |
18: 78,903,137 (GRCm39) |
R177G |
probably damaging |
Het |
Sh2b3 |
G |
T |
5: 121,966,549 (GRCm39) |
|
probably benign |
Het |
Tbc1d30 |
A |
G |
10: 121,130,617 (GRCm39) |
F271S |
probably damaging |
Het |
Tpo |
T |
C |
12: 30,153,151 (GRCm39) |
E401G |
possibly damaging |
Het |
Zdhhc13 |
T |
C |
7: 48,458,589 (GRCm39) |
Y308H |
probably damaging |
Het |
Zfp112 |
C |
T |
7: 23,825,798 (GRCm39) |
H589Y |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
probably damaging |
Het |
|
Other mutations in Acin1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGAGCCATCTTGCCACTTAC -3'
(R):5'- ATGGGCACATAAGAAAATGCTGTC -3'
Sequencing Primer
(F):5'- TTGCCACTTACCCAGCAG -3'
(R):5'- AGAAAATGCTGTCTTGATGTTCTGAG -3'
|
Posted On |
2015-07-06 |