Incidental Mutation 'R8862:Acin1'
| ID |
675737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acin1
|
| Ensembl Gene |
ENSMUSG00000022185 |
| Gene Name |
apoptotic chromatin condensation inducer 1 |
| Synonyms |
2610036I19Rik, 2610510L13Rik, Acinus |
| MMRRC Submission |
068741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R8862 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
54879618-54924388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 54901172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 685
(G685R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022793]
[ENSMUST00000111484]
[ENSMUST00000125265]
|
| AlphaFold |
Q9JIX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022793
AA Change: G685R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: G685R
| 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: ENSMUST00000111484
AA Change: G645R
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: G645R
| 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: ENSMUST00000125265
|
| SMART Domains |
Protein: ENSMUSP00000120445
Gene: ENSMUSG00000022185
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRLZ
|
1 |
27 |
3e-9 |
BLAST |
|
coiled coil region
|
32 |
66 |
N/A |
INTRINSIC |
|
coiled coil region
|
113 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: G630R
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,791,129 (GRCm39) |
F790S |
possibly damaging |
Het |
| Alg10b |
T |
C |
15: 90,109,893 (GRCm39) |
Y69H |
probably damaging |
Het |
| Amer3 |
A |
T |
1: 34,626,465 (GRCm39) |
S235C |
probably damaging |
Het |
| Ankfy1 |
G |
T |
11: 72,644,469 (GRCm39) |
S722I |
probably benign |
Het |
| Baz1a |
T |
C |
12: 55,032,624 (GRCm39) |
|
probably benign |
Het |
| Ccdc177 |
A |
G |
12: 80,804,208 (GRCm39) |
S689P |
unknown |
Het |
| Cdh24 |
C |
A |
14: 54,869,874 (GRCm39) |
R681L |
probably damaging |
Het |
| Cdk14 |
T |
G |
5: 5,060,862 (GRCm39) |
I338L |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,308,494 (GRCm39) |
T12A |
probably benign |
Het |
| Col18a1 |
G |
T |
10: 76,949,044 (GRCm39) |
S156* |
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,663,348 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cytip |
G |
A |
2: 58,037,887 (GRCm39) |
T159M |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,459,502 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,855,927 (GRCm39) |
Y744C |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,406,404 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,029,934 (GRCm39) |
D385E |
probably damaging |
Het |
| Efhc1 |
A |
C |
1: 21,037,573 (GRCm39) |
D250A |
|
Het |
| Epha3 |
T |
A |
16: 63,431,348 (GRCm39) |
T519S |
probably benign |
Het |
| Gas2l3 |
A |
G |
10: 89,250,282 (GRCm39) |
Y279H |
probably damaging |
Het |
| Gatd3a |
A |
G |
10: 78,005,461 (GRCm39) |
S35P |
probably damaging |
Het |
| Gemin6 |
G |
A |
17: 80,535,432 (GRCm39) |
V131I |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gnai2 |
C |
A |
9: 107,512,326 (GRCm39) |
A31S |
|
Het |
| Greb1l |
A |
G |
18: 10,555,042 (GRCm39) |
D1696G |
possibly damaging |
Het |
| Itfg2 |
T |
C |
6: 128,394,668 (GRCm39) |
E35G |
probably damaging |
Het |
| Kctd10 |
A |
G |
5: 114,503,921 (GRCm39) |
F244L |
probably damaging |
Het |
| Kif19b |
C |
A |
5: 140,472,534 (GRCm39) |
P686Q |
probably damaging |
Het |
| Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
G |
T |
11: 78,860,716 (GRCm39) |
|
probably benign |
Het |
| Lrriq4 |
A |
T |
3: 30,705,088 (GRCm39) |
N372I |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,910,574 (GRCm39) |
N248S |
probably damaging |
Het |
| Mipep |
T |
A |
14: 61,080,689 (GRCm39) |
C560* |
probably null |
Het |
| Myo1a |
G |
A |
10: 127,548,653 (GRCm39) |
V396M |
probably benign |
Het |
| Myod1 |
A |
G |
7: 46,026,487 (GRCm39) |
T131A |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,647,199 (GRCm39) |
D558V |
possibly damaging |
Het |
| Odf2l |
T |
A |
3: 144,833,758 (GRCm39) |
|
probably benign |
Het |
| Or6d13 |
G |
A |
6: 116,518,186 (GRCm39) |
M257I |
probably benign |
Het |
| Plbd2 |
A |
T |
5: 120,624,728 (GRCm39) |
M480K |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,631,235 (GRCm39) |
F465L |
possibly damaging |
Het |
| Ppp1r15b |
A |
T |
1: 133,064,506 (GRCm39) |
I659F |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 17,097,510 (GRCm39) |
L1005F |
probably benign |
Het |
| Pter |
T |
C |
2: 12,985,341 (GRCm39) |
S224P |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,266,731 (GRCm39) |
I615T |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,191,715 (GRCm39) |
|
probably null |
Het |
| Rps2 |
A |
G |
17: 24,940,662 (GRCm39) |
T259A |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| S1pr4 |
G |
A |
10: 81,334,533 (GRCm39) |
R314C |
probably damaging |
Het |
| Sema4f |
A |
T |
6: 82,891,081 (GRCm39) |
H575Q |
probably benign |
Het |
| Son |
A |
G |
16: 91,453,734 (GRCm39) |
D827G |
probably damaging |
Het |
| Sox8 |
A |
T |
17: 25,787,045 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Spink2 |
C |
T |
5: 77,357,615 (GRCm39) |
D24N |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,534,099 (GRCm39) |
D3452G |
probably benign |
Het |
| Syngr2 |
G |
T |
11: 117,703,507 (GRCm39) |
D108Y |
probably damaging |
Het |
| Tardbp |
G |
A |
4: 148,702,755 (GRCm39) |
S403L |
possibly damaging |
Het |
| Tomm70a |
T |
C |
16: 56,942,546 (GRCm39) |
S108P |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,351,515 (GRCm39) |
T661A |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 89,006,824 (GRCm39) |
V66A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,235,207 (GRCm39) |
L477Q |
probably damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,776,060 (GRCm39) |
C279S |
probably benign |
Het |
| Vmn2r79 |
T |
C |
7: 86,645,712 (GRCm39) |
S14P |
probably benign |
Het |
| Zan |
T |
C |
5: 137,472,674 (GRCm39) |
T72A |
probably benign |
Het |
| Zcchc2 |
A |
G |
1: 105,958,998 (GRCm39) |
*1156W |
probably null |
Het |
| Zfp354c |
A |
T |
11: 50,708,718 (GRCm39) |
D26E |
probably benign |
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 |
|
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 |
|
|
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'- TCTCTGAATTTGATGGTGAAGACAC -3'
(R):5'- AAAAGACCCAGACTGGACTG -3'
Sequencing Primer
(F):5'- AACCATTAGTCTGACGCTGG -3'
(R):5'- AGACTGGACTGGGTCACC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation