Incidental Mutation 'IGL00988:Acin1'
| ID |
29011 |
| 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)
|
| Stock # |
IGL00988
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
54879618-54924388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54884257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 67
(T67I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022793]
[ENSMUST00000022794]
[ENSMUST00000111484]
[ENSMUST00000123875]
[ENSMUST00000126166]
[ENSMUST00000150371]
[ENSMUST00000141453]
[ENSMUST00000167015]
[ENSMUST00000148754]
[ENSMUST00000169818]
|
| AlphaFold |
Q9JIX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022793
AA Change: T840I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: T840I
| 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 damaging
Transcript: ENSMUST00000022794
AA Change: T82I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185
AA Change: T82I
| 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 |
possibly damaging
Transcript: ENSMUST00000111484
AA Change: T800I
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: T800I
| 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 damaging
Transcript: ENSMUST00000123875
AA Change: T149I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117210
Gene: ENSMUSG00000022185
AA Change: T149I
| 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 |
noncoding transcript
Transcript: ENSMUST00000124271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125767
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126166
AA Change: T67I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185
AA Change: T67I
| 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 |
probably damaging
Transcript: ENSMUST00000150371
AA Change: T136I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185
AA Change: T136I
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141453
AA Change: T66I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185
AA Change: T66I
| 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 damaging
Transcript: ENSMUST00000167015
AA Change: T83I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185
AA Change: T83I
| 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 damaging
Transcript: ENSMUST00000148754
AA Change: T83I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185
AA Change: T83I
| 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 |
unknown
Transcript: ENSMUST00000147714
AA Change: T785I
|
| SMART Domains |
Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: T785I
| 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 |
noncoding transcript
Transcript: ENSMUST00000151487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152773
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149713
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138321
|
| SMART Domains |
Protein: ENSMUSP00000119326
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSB_motif
|
20 |
128 |
4.7e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169818
|
| SMART Domains |
Protein: ENSMUSP00000131860
Gene: ENSMUSG00000091306
| Domain | Start | End | E-Value | Type |
|---|
|
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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,215,937 (GRCm39) |
|
probably null |
Het |
| Agmo |
T |
C |
12: 37,407,716 (GRCm39) |
I200T |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,697,220 (GRCm39) |
T248A |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,234,441 (GRCm39) |
V216M |
possibly damaging |
Het |
| Gas6 |
T |
G |
8: 13,526,171 (GRCm39) |
T256P |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,272,559 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
G |
A |
11: 100,347,110 (GRCm39) |
V435I |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 27,245,011 (GRCm39) |
K257* |
probably null |
Het |
| Lrriq1 |
A |
T |
10: 102,997,757 (GRCm39) |
V1286E |
probably damaging |
Het |
| Mtbp |
T |
A |
15: 55,421,894 (GRCm39) |
|
probably benign |
Het |
| Nedd1 |
A |
G |
10: 92,525,548 (GRCm39) |
V587A |
possibly damaging |
Het |
| Srbd1 |
T |
C |
17: 86,437,698 (GRCm39) |
E215G |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,426,338 (GRCm39) |
V490A |
probably benign |
Het |
| Vmn2r124 |
A |
G |
17: 18,282,932 (GRCm39) |
M209V |
probably benign |
Het |
|
| Other mutations in Acin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-04-17 |
Incidental Mutation