Incidental Mutation 'R6560:Acin1'
| ID |
522035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acin1
|
| Ensembl Gene |
ENSMUSG00000022185 |
| Gene Name |
apoptotic chromatin condensation inducer 1 |
| Synonyms |
2610036I19Rik, 2610510L13Rik, Acinus |
| MMRRC Submission |
044684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R6560 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
54879618-54924388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54916290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 174
(T174A)
|
| 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: T174A
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: T174A
| 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 |
unknown
Transcript: ENSMUST00000147714
AA Change: T119A
|
| SMART Domains |
Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: T119A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,843,230 (GRCm39) |
L1235Q |
probably damaging |
Het |
| Adamtsl1 |
G |
A |
4: 86,255,130 (GRCm39) |
R733H |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Arsk |
A |
T |
13: 76,223,105 (GRCm39) |
I164N |
probably benign |
Het |
| Bbs5 |
T |
A |
2: 69,487,300 (GRCm39) |
N194K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,723,119 (GRCm39) |
T133A |
possibly damaging |
Het |
| Card6 |
G |
A |
15: 5,128,367 (GRCm39) |
P1010S |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,339,790 (GRCm39) |
N778K |
probably benign |
Het |
| Cept1 |
T |
C |
3: 106,412,594 (GRCm39) |
I240V |
possibly damaging |
Het |
| Crip3 |
A |
G |
17: 46,741,962 (GRCm39) |
R150G |
probably damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,085,299 (GRCm39) |
T320A |
probably benign |
Het |
| Dio2 |
G |
C |
12: 90,696,607 (GRCm39) |
S127* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,801,161 (GRCm39) |
E99G |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,626,935 (GRCm39) |
S325G |
probably benign |
Het |
| Exosc4 |
A |
G |
15: 76,211,813 (GRCm39) |
I41V |
probably benign |
Het |
| Glb1l3 |
C |
T |
9: 26,739,720 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm3072 |
T |
A |
14: 41,345,510 (GRCm39) |
D89V |
unknown |
Het |
| Gosr2 |
T |
C |
11: 103,577,508 (GRCm39) |
H79R |
probably damaging |
Het |
| Has2 |
T |
A |
15: 56,531,660 (GRCm39) |
T352S |
probably damaging |
Het |
| Insig1 |
T |
A |
5: 28,276,531 (GRCm39) |
C32* |
probably null |
Het |
| Klf9 |
A |
G |
19: 23,119,314 (GRCm39) |
S66G |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,623,665 (GRCm39) |
I263T |
probably damaging |
Het |
| Myl2 |
G |
A |
5: 122,240,834 (GRCm39) |
G38R |
probably null |
Het |
| Negr1 |
A |
G |
3: 157,018,494 (GRCm39) |
T332A |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,787,884 (GRCm39) |
S1417P |
possibly damaging |
Het |
| Or52ab4 |
T |
C |
7: 102,987,945 (GRCm39) |
F228S |
probably benign |
Het |
| Or7e168 |
G |
A |
9: 19,720,412 (GRCm39) |
S266N |
probably benign |
Het |
| Pcgf3 |
C |
A |
5: 108,621,768 (GRCm39) |
H35Q |
probably damaging |
Het |
| Plppr5 |
A |
G |
3: 117,465,639 (GRCm39) |
I297V |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
| Prx |
A |
T |
7: 27,214,746 (GRCm39) |
Q85H |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,388,688 (GRCm39) |
M305R |
possibly damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,467 (GRCm39) |
V92A |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,954 (GRCm39) |
E995K |
probably damaging |
Het |
| Zfp90 |
A |
G |
8: 107,142,379 (GRCm39) |
R4G |
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 |
|
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 |
|
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'- ACTTTCATGGAGGCTTAGCATG -3'
(R):5'- AGTTAGAAATAAGTCGTGGCCCC -3'
Sequencing Primer
(F):5'- CTTTCATGGAGGCTTAGCATGAAAGG -3'
(R):5'- TAGAAATAAGTCGTGGCCCCCTTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation