Incidental Mutation 'R5575:Acin1'
| ID |
437186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acin1
|
| Ensembl Gene |
ENSMUSG00000022185 |
| Gene Name |
apoptotic chromatin condensation inducer 1 |
| Synonyms |
2610036I19Rik, 2610510L13Rik, Acinus |
| MMRRC Submission |
043130-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R5575 (G1)
|
| Quality Score |
165 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
54879618-54924388 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 54916195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022793]
[ENSMUST00000111484]
[ENSMUST00000125265]
|
| AlphaFold |
Q9JIX8 |
| Predicted Effect |
probably null
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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000132242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134808
|
| Predicted Effect |
probably null
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (57/59) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1 |
T |
G |
2: 179,817,509 (GRCm39) |
D325E |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,013,213 (GRCm39) |
V433E |
probably damaging |
Het |
| Aplf |
A |
C |
6: 87,623,129 (GRCm39) |
C338G |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,991,149 (GRCm39) |
T681A |
probably benign |
Het |
| B9d2 |
A |
G |
7: 25,382,757 (GRCm39) |
T44A |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,405,015 (GRCm39) |
K81R |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,702,066 (GRCm39) |
H286Q |
probably damaging |
Het |
| Cfap61 |
G |
A |
2: 145,859,313 (GRCm39) |
V434I |
probably benign |
Het |
| Col5a2 |
A |
T |
1: 45,417,642 (GRCm39) |
I1311N |
probably damaging |
Het |
| Col9a3 |
A |
T |
2: 180,240,639 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,168,447 (GRCm39) |
C671S |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,508,740 (GRCm39) |
V245A |
probably damaging |
Het |
| Epha5 |
G |
A |
5: 84,564,361 (GRCm39) |
R2W |
probably damaging |
Het |
| Gabrb2 |
G |
A |
11: 42,420,365 (GRCm39) |
|
probably benign |
Het |
| Gm3453 |
A |
G |
14: 5,978,205 (GRCm38) |
V66A |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,359,707 (GRCm39) |
I28V |
probably damaging |
Het |
| Hk3 |
A |
T |
13: 55,162,583 (GRCm39) |
D88E |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,060,613 (GRCm39) |
T375A |
probably benign |
Het |
| Ibsp |
A |
T |
5: 104,457,925 (GRCm39) |
E154V |
possibly damaging |
Het |
| Il7r |
A |
G |
15: 9,508,273 (GRCm39) |
S350P |
probably benign |
Het |
| Isx |
T |
C |
8: 75,619,429 (GRCm39) |
L207P |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,985,450 (GRCm39) |
E197G |
probably damaging |
Het |
| Krt78 |
G |
A |
15: 101,855,787 (GRCm39) |
Q675* |
probably null |
Het |
| Marchf1 |
T |
A |
8: 66,920,962 (GRCm39) |
V217E |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,578,485 (GRCm39) |
I157T |
probably damaging |
Het |
| Mmab |
A |
T |
5: 114,574,832 (GRCm39) |
L147Q |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,231,479 (GRCm39) |
V16D |
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,593,991 (GRCm39) |
H892L |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,047,804 (GRCm39) |
L18P |
possibly damaging |
Het |
| Pikfyve |
A |
C |
1: 65,312,889 (GRCm39) |
H2089P |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,301,523 (GRCm39) |
L1501Q |
possibly damaging |
Het |
| Ppp2r5c |
T |
C |
12: 110,519,266 (GRCm39) |
F246S |
probably damaging |
Het |
| Ptbp2 |
A |
T |
3: 119,514,432 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
G |
A |
3: 119,514,438 (GRCm39) |
P463L |
possibly damaging |
Het |
| Rad51 |
A |
G |
2: 118,964,914 (GRCm39) |
D274G |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,328,405 (GRCm39) |
V2807A |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
C |
T |
14: 64,268,433 (GRCm39) |
H1340Y |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,778,118 (GRCm39) |
H2133L |
possibly damaging |
Het |
| Scgb1c1 |
G |
A |
7: 140,426,024 (GRCm39) |
G40E |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,963,871 (GRCm39) |
I703T |
probably damaging |
Het |
| Spag17 |
G |
A |
3: 99,961,138 (GRCm39) |
A975T |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,119,787 (GRCm39) |
D400G |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,378 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
C |
17: 84,723,827 (GRCm39) |
|
probably null |
Het |
| Themis3 |
A |
G |
17: 66,862,321 (GRCm39) |
S546P |
possibly damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,631 (GRCm39) |
D286G |
probably benign |
Het |
| Tmem67 |
A |
T |
4: 12,047,886 (GRCm39) |
V815D |
possibly damaging |
Het |
| Trpm1 |
T |
C |
7: 63,870,018 (GRCm39) |
L441P |
possibly damaging |
Het |
| Vapa |
A |
G |
17: 65,920,247 (GRCm39) |
V16A |
probably benign |
Het |
| Vmn2r38 |
A |
T |
7: 9,078,635 (GRCm39) |
Y582* |
probably null |
Het |
| Vps13b |
A |
T |
15: 35,930,065 (GRCm39) |
K3934I |
probably damaging |
Het |
| Wrn |
G |
A |
8: 33,826,158 (GRCm39) |
T168I |
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 |
|
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'- TACTGACTTGTAAGACACCAAGC -3'
(R):5'- TTACTGCTGTGAGTTCCCACATG -3'
Sequencing Primer
(F):5'- GACACCAAGCAATTAACATGTTAGC -3'
(R):5'- TGAGTTCCCACATGCTGAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation