Incidental Mutation 'R0723:Acin1'
| ID |
63631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acin1
|
| Ensembl Gene |
ENSMUSG00000022185 |
| Gene Name |
apoptotic chromatin condensation inducer 1 |
| Synonyms |
2610036I19Rik, 2610510L13Rik, Acinus |
| MMRRC Submission |
038905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R0723 (G1)
|
| Quality Score |
153 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
54879618-54924388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54902908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 255
(S255T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022793]
[ENSMUST00000111484]
[ENSMUST00000125265]
|
| AlphaFold |
Q9JIX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022793
AA Change: S295T
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: S295T
| 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: ENSMUST00000111484
AA Change: S255T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: S255T
| 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
AA Change: S149T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120445
Gene: ENSMUSG00000022185
AA Change: S149T
| 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: ENSMUST00000129700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141993
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147714
AA Change: S240T
|
| SMART Domains |
Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: S240T
| 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 |
0.0594 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
99% (69/70) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Acbd5 |
T |
G |
2: 22,959,608 (GRCm39) |
V54G |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 69,147,248 (GRCm39) |
L56P |
probably damaging |
Het |
| Akap6 |
G |
T |
12: 53,188,685 (GRCm39) |
C2033F |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,237,506 (GRCm39) |
I777V |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,075,987 (GRCm39) |
V1349A |
probably benign |
Het |
| Atosa |
G |
A |
9: 74,916,733 (GRCm39) |
G444E |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,760,164 (GRCm39) |
|
probably null |
Het |
| C2cd5 |
T |
C |
6: 142,987,281 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,287,697 (GRCm39) |
V1161A |
probably damaging |
Het |
| Car8 |
A |
T |
4: 8,169,703 (GRCm39) |
D268E |
probably benign |
Het |
| Ciao3 |
G |
A |
17: 26,000,795 (GRCm39) |
V406M |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,385,676 (GRCm39) |
S175T |
probably damaging |
Het |
| Clk4 |
T |
A |
11: 51,166,320 (GRCm39) |
Y67* |
probably null |
Het |
| Copg2 |
T |
C |
6: 30,792,917 (GRCm39) |
I473V |
possibly damaging |
Het |
| Cstdc1 |
T |
C |
2: 148,625,282 (GRCm39) |
I72T |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,508,973 (GRCm39) |
V43I |
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,761,703 (GRCm39) |
D493G |
probably benign |
Het |
| Efemp2 |
T |
C |
19: 5,530,078 (GRCm39) |
S140P |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,479,786 (GRCm39) |
T2944K |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,047,784 (GRCm39) |
D43E |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,419,825 (GRCm39) |
A996T |
probably damaging |
Het |
| Fyb2 |
G |
A |
4: 104,873,063 (GRCm39) |
V784I |
probably benign |
Het |
| Gm6507 |
T |
A |
6: 89,162,144 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
T |
C |
7: 83,405,374 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2c |
T |
C |
6: 136,704,799 (GRCm39) |
|
probably null |
Het |
| Hdac10 |
A |
T |
15: 89,010,621 (GRCm39) |
L259Q |
probably damaging |
Het |
| Hoxd9 |
A |
T |
2: 74,529,172 (GRCm39) |
D258V |
probably damaging |
Het |
| Hs3st3b1 |
T |
C |
11: 63,812,401 (GRCm39) |
T105A |
probably benign |
Het |
| Hsd17b7 |
A |
G |
1: 169,783,595 (GRCm39) |
L271P |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,428,524 (GRCm39) |
|
probably benign |
Het |
| Kif22 |
A |
T |
7: 126,633,078 (GRCm39) |
M121K |
probably damaging |
Het |
| Kl |
G |
A |
5: 150,876,566 (GRCm39) |
D129N |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,361,999 (GRCm39) |
I648N |
probably damaging |
Het |
| Mlh1 |
C |
T |
9: 111,100,540 (GRCm39) |
R18H |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,247,473 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
C |
A |
11: 60,369,803 (GRCm39) |
N854K |
possibly damaging |
Het |
| Myo1h |
T |
C |
5: 114,457,741 (GRCm39) |
I84T |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,778,383 (GRCm39) |
S1380C |
probably benign |
Het |
| Myof |
A |
G |
19: 37,969,708 (GRCm39) |
V318A |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,585,897 (GRCm39) |
S28P |
probably damaging |
Het |
| Nbr1 |
C |
T |
11: 101,467,145 (GRCm39) |
Q570* |
probably null |
Het |
| Nhp2 |
C |
T |
11: 51,510,750 (GRCm39) |
Q36* |
probably null |
Het |
| Or1e17 |
T |
G |
11: 73,831,096 (GRCm39) |
V8G |
probably benign |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,965,457 (GRCm39) |
W129R |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,146,936 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
C |
T |
3: 78,986,481 (GRCm39) |
E1018K |
probably benign |
Het |
| Rgs12 |
T |
C |
5: 35,181,710 (GRCm39) |
|
probably benign |
Het |
| Rufy2 |
G |
A |
10: 62,833,873 (GRCm39) |
V280I |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,444 (GRCm39) |
I281V |
probably benign |
Het |
| Spag5 |
C |
A |
11: 78,210,410 (GRCm39) |
|
probably benign |
Het |
| Spata31g1 |
T |
A |
4: 42,971,691 (GRCm39) |
N341K |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,644,617 (GRCm39) |
I961N |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,173,045 (GRCm39) |
E1739G |
probably benign |
Het |
| Tmod2 |
A |
G |
9: 75,502,337 (GRCm39) |
F50S |
possibly damaging |
Het |
| Tnfsf13b |
T |
G |
8: 10,057,166 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,616,679 (GRCm39) |
K16525E |
possibly damaging |
Het |
| Txnrd2 |
T |
C |
16: 18,259,629 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,711,582 (GRCm39) |
Y1437* |
probably null |
Het |
| Vwf |
C |
A |
6: 125,543,225 (GRCm39) |
D170E |
probably benign |
Het |
| Wdr95 |
C |
G |
5: 149,497,513 (GRCm39) |
I230M |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,342,559 (GRCm39) |
S1600F |
probably damaging |
Het |
| Zfp12 |
A |
G |
5: 143,230,638 (GRCm39) |
K322E |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGATCTAGTAACTCGCCCTCC -3'
(R):5'- AAGCAGCTTCCTTACCGTGCTC -3'
Sequencing Primer
(F):5'- GTAACTCGCCCTCCTTTCTCTAAC -3'
(R):5'- TTCCCAAGAGTGCCTTGAGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation