Incidental Mutation 'R5260:Acin1'
| ID |
401397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acin1
|
| Ensembl Gene |
ENSMUSG00000022185 |
| Gene Name |
apoptotic chromatin condensation inducer 1 |
| Synonyms |
2610036I19Rik, 2610510L13Rik, Acinus |
| MMRRC Submission |
042829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R5260 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
54879618-54924388 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 54880279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022793]
[ENSMUST00000022794]
[ENSMUST00000067784]
[ENSMUST00000111484]
[ENSMUST00000123875]
[ENSMUST00000141453]
[ENSMUST00000150371]
[ENSMUST00000126166]
[ENSMUST00000167015]
[ENSMUST00000148754]
[ENSMUST00000169818]
|
| AlphaFold |
Q9JIX8 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022793
AA Change: D1308G
|
| SMART Domains |
Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: D1308G
| 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 |
unknown
Transcript: ENSMUST00000022794
AA Change: D550G
|
| SMART Domains |
Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185
AA Change: D550G
| 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 |
probably benign
Transcript: ENSMUST00000067784
|
| SMART Domains |
Protein: ENSMUSP00000066005
Gene: ENSMUSG00000059674
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
67 |
148 |
7.85e-18 |
SMART |
|
CA
|
172 |
257 |
3.23e-28 |
SMART |
|
CA
|
281 |
369 |
4.24e-14 |
SMART |
|
CA
|
396 |
477 |
1.48e-22 |
SMART |
|
Blast:CA
|
500 |
581 |
3e-31 |
BLAST |
|
transmembrane domain
|
602 |
624 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
627 |
775 |
2e-48 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000111484
AA Change: D1268G
|
| SMART Domains |
Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: D1268G
| 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: ENSMUST00000123875
|
| SMART Domains |
Protein: ENSMUSP00000117210
Gene: ENSMUSG00000022185
| 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 |
unknown
Transcript: ENSMUST00000141453
AA Change: D522G
|
| SMART Domains |
Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185
AA Change: D522G
| 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 |
unknown
Transcript: ENSMUST00000150371
AA Change: D604G
|
| SMART Domains |
Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185
AA Change: D604G
| 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 |
unknown
Transcript: ENSMUST00000126166
AA Change: D535G
|
| SMART Domains |
Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185
AA Change: D535G
| 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 |
unknown
Transcript: ENSMUST00000147714
AA Change: D1241G
|
| SMART Domains |
Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: D1241G
| 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 |
unknown
Transcript: ENSMUST00000167015
AA Change: D551G
|
| SMART Domains |
Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185
AA Change: D551G
| 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: ENSMUST00000148754
AA Change: D551G
|
| SMART Domains |
Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185
AA Change: D551G
| 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 |
noncoding transcript
Transcript: ENSMUST00000196776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152773
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167495
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0752 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
T |
7: 132,461,003 (GRCm39) |
I14F |
probably damaging |
Het |
| Adamts9 |
C |
A |
6: 92,784,118 (GRCm39) |
V1579L |
probably benign |
Het |
| Adra2a |
T |
A |
19: 54,035,039 (GRCm39) |
C132S |
probably damaging |
Het |
| Aif1 |
T |
A |
17: 35,390,917 (GRCm39) |
|
probably null |
Het |
| Atf5 |
A |
T |
7: 44,464,510 (GRCm39) |
Y27* |
probably null |
Het |
| Atm |
A |
G |
9: 53,417,911 (GRCm39) |
S799P |
probably damaging |
Het |
| Bmp2k |
T |
G |
5: 97,235,210 (GRCm39) |
|
probably benign |
Het |
| Chaf1a |
C |
T |
17: 56,372,000 (GRCm39) |
H723Y |
probably damaging |
Het |
| Clint1 |
T |
C |
11: 45,798,769 (GRCm39) |
W493R |
probably damaging |
Het |
| Cyb561a3 |
T |
A |
19: 10,565,230 (GRCm39) |
V198D |
possibly damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,389,301 (GRCm39) |
E174G |
possibly damaging |
Het |
| Cyp4v3 |
C |
T |
8: 45,760,017 (GRCm39) |
G512S |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,919,393 (GRCm39) |
V1122D |
probably benign |
Het |
| Doc2b |
C |
A |
11: 75,676,989 (GRCm39) |
G128V |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,127,016 (GRCm39) |
V1378A |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 77,028,477 (GRCm39) |
S421T |
possibly damaging |
Het |
| Efcab6 |
T |
G |
15: 83,829,324 (GRCm39) |
D672A |
probably benign |
Het |
| Eif2ak3 |
C |
A |
6: 70,870,113 (GRCm39) |
H933Q |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,738,120 (GRCm39) |
N574K |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,387,069 (GRCm39) |
|
probably benign |
Het |
| Faxc |
A |
G |
4: 21,948,744 (GRCm39) |
Y152C |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,543,585 (GRCm39) |
Y354F |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,883,046 (GRCm39) |
I2526N |
possibly damaging |
Het |
| Gm5424 |
A |
T |
10: 61,907,374 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
T |
C |
6: 136,463,701 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
T |
16: 36,733,503 (GRCm39) |
S917C |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,942,062 (GRCm39) |
|
probably benign |
Het |
| Gusb |
A |
T |
5: 130,028,829 (GRCm39) |
Y220* |
probably null |
Het |
| Gvin3 |
A |
G |
7: 106,198,411 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,471,612 (GRCm39) |
V4914A |
possibly damaging |
Het |
| Iars2 |
C |
A |
1: 185,055,931 (GRCm39) |
C211F |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,211,058 (GRCm39) |
L802P |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,625,602 (GRCm39) |
E624G |
probably damaging |
Het |
| Kmt2d |
G |
T |
15: 98,740,741 (GRCm39) |
|
probably benign |
Het |
| Krt82 |
C |
A |
15: 101,456,823 (GRCm39) |
G186C |
possibly damaging |
Het |
| Lca5 |
G |
A |
9: 83,305,276 (GRCm39) |
R177C |
probably damaging |
Het |
| Mab21l4 |
A |
T |
1: 93,087,700 (GRCm39) |
V51E |
probably damaging |
Het |
| Mier1 |
T |
C |
4: 103,019,907 (GRCm39) |
S318P |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,894,195 (GRCm39) |
I1207N |
probably damaging |
Het |
| Oog4 |
C |
T |
4: 143,164,424 (GRCm39) |
G369D |
probably benign |
Het |
| Or4c126 |
A |
G |
2: 89,824,526 (GRCm39) |
D263G |
probably damaging |
Het |
| Or4k52 |
A |
G |
2: 111,611,526 (GRCm39) |
Y287C |
probably damaging |
Het |
| Or52d13 |
A |
G |
7: 103,109,822 (GRCm39) |
F198L |
probably benign |
Het |
| Or5d35 |
A |
C |
2: 87,855,818 (GRCm39) |
I251L |
probably benign |
Het |
| Plec |
T |
C |
15: 76,060,824 (GRCm39) |
T3060A |
probably damaging |
Het |
| Plekhh2 |
C |
T |
17: 84,884,593 (GRCm39) |
T769I |
probably damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,190,149 (GRCm39) |
S65C |
probably damaging |
Het |
| Psma3 |
T |
C |
12: 71,031,416 (GRCm39) |
|
probably benign |
Het |
| Ptpn18 |
T |
A |
1: 34,502,591 (GRCm39) |
|
probably benign |
Het |
| Ptprv |
T |
C |
1: 135,039,998 (GRCm39) |
|
noncoding transcript |
Het |
| Rac1 |
C |
A |
5: 143,493,886 (GRCm39) |
V104L |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,362,479 (GRCm39) |
N61I |
possibly damaging |
Het |
| Sirt7 |
A |
C |
11: 120,511,347 (GRCm39) |
|
probably benign |
Het |
| Srl |
G |
A |
16: 4,300,759 (GRCm39) |
R333* |
probably null |
Het |
| Srprb |
A |
T |
9: 103,079,119 (GRCm39) |
L756Q |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,378,102 (GRCm39) |
S269P |
probably damaging |
Het |
| Tdo2 |
C |
T |
3: 81,882,630 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
C |
1: 153,767,646 (GRCm39) |
Y37H |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,689,890 (GRCm39) |
Y1899C |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,076,088 (GRCm39) |
T1681A |
probably benign |
Het |
| Timm44 |
G |
T |
8: 4,325,919 (GRCm39) |
|
probably null |
Het |
| Trp73 |
A |
G |
4: 154,147,059 (GRCm39) |
V322A |
possibly damaging |
Het |
| Tsr1 |
A |
C |
11: 74,796,781 (GRCm39) |
E611A |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,685,746 (GRCm39) |
N2290S |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,276 (GRCm39) |
V4828A |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnt9b |
C |
A |
11: 103,622,875 (GRCm39) |
S176I |
possibly damaging |
Het |
| Zfp329 |
A |
G |
7: 12,540,453 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
T |
A |
4: 90,112,697 (GRCm39) |
V279D |
probably damaging |
Het |
| Zfp932 |
C |
T |
5: 110,157,501 (GRCm39) |
Q400* |
probably null |
Het |
| Zxdc |
T |
A |
6: 90,359,075 (GRCm39) |
L569Q |
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 |
|
|
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'- GTGGTGGTGACTGTACCTATCC -3'
(R):5'- ACTGTGACACACTTCTCTGC -3'
Sequencing Primer
(F):5'- GTGACTGTACCTATCCCTCTGTGG -3'
(R):5'- TCTGACCACAGATTGTTCAGAAGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation