Incidental Mutation 'R5153:Acin1'
| ID |
395559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acin1
|
| Ensembl Gene |
ENSMUSG00000022185 |
| Gene Name |
apoptotic chromatin condensation inducer 1 |
| Synonyms |
2610036I19Rik, 2610510L13Rik, Acinus |
| MMRRC Submission |
042735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R5153 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
54879618-54924388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54883070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 194
(V194A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022793]
[ENSMUST00000022794]
[ENSMUST00000067784]
[ENSMUST00000111484]
[ENSMUST00000123875]
[ENSMUST00000141453]
[ENSMUST00000150371]
[ENSMUST00000126166]
[ENSMUST00000148754]
[ENSMUST00000167015]
[ENSMUST00000169818]
|
| AlphaFold |
Q9JIX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022793
AA Change: V967A
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: V967A
| 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: ENSMUST00000022794
AA Change: V209A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185
AA Change: V209A
| 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 |
probably benign
Transcript: ENSMUST00000111484
AA Change: V927A
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: V927A
| 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 |
noncoding transcript
Transcript: ENSMUST00000151487
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141453
AA Change: V181A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185
AA Change: V181A
| 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 |
probably benign
Transcript: ENSMUST00000150371
AA Change: V263A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185
AA Change: V263A
| 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 |
noncoding transcript
Transcript: ENSMUST00000167495
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147714
AA Change: V900A
|
| SMART Domains |
Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: V900A
| 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 |
probably benign
Transcript: ENSMUST00000126166
AA Change: V194A
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185
AA Change: V194A
| 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 |
probably benign
Transcript: ENSMUST00000148754
AA Change: V210A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185
AA Change: V210A
| 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 |
probably benign
Transcript: ENSMUST00000167015
AA Change: V210A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185
AA Change: V210A
| 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: ENSMUST00000167763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152773
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133706
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196776
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
T |
11: 99,728,073 (GRCm39) |
C257S |
unknown |
Het |
| 4930596D02Rik |
C |
A |
14: 35,532,212 (GRCm39) |
R121L |
probably benign |
Het |
| Aadacl4fm1 |
T |
A |
4: 144,248,837 (GRCm39) |
M68K |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,239,950 (GRCm39) |
I298T |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,885,681 (GRCm39) |
N729D |
probably benign |
Het |
| Apobr |
C |
T |
7: 126,186,904 (GRCm39) |
T20I |
possibly damaging |
Het |
| Arsb |
A |
G |
13: 94,077,106 (GRCm39) |
E491G |
probably benign |
Het |
| AW209491 |
C |
G |
13: 14,811,764 (GRCm39) |
Q206E |
probably benign |
Het |
| Camsap1 |
A |
T |
2: 25,823,630 (GRCm39) |
N1473K |
probably damaging |
Het |
| Casp8 |
A |
G |
1: 58,884,004 (GRCm39) |
Q457R |
probably benign |
Het |
| Ccdc154 |
G |
A |
17: 25,387,315 (GRCm39) |
A350T |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,711,521 (GRCm39) |
E183G |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,268,925 (GRCm39) |
S39T |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,811,692 (GRCm39) |
I416K |
probably damaging |
Het |
| Cidea |
C |
T |
18: 67,500,490 (GRCm39) |
T184M |
probably damaging |
Het |
| Cnot10 |
G |
A |
9: 114,442,803 (GRCm39) |
A468V |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,360 (GRCm39) |
Q98R |
probably benign |
Het |
| Defb22 |
A |
T |
2: 152,327,722 (GRCm39) |
N154K |
unknown |
Het |
| Dnah17 |
A |
T |
11: 117,973,800 (GRCm39) |
C1915* |
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,411,759 (GRCm39) |
T288A |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,570,891 (GRCm39) |
M1512K |
probably damaging |
Het |
| Dsp |
T |
G |
13: 38,366,282 (GRCm39) |
I572S |
probably damaging |
Het |
| Eepd1 |
A |
G |
9: 25,498,049 (GRCm39) |
H378R |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,380,063 (GRCm39) |
Y349N |
possibly damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,497 (GRCm39) |
M743T |
possibly damaging |
Het |
| Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
| F2rl2 |
A |
G |
13: 95,833,620 (GRCm39) |
T17A |
probably benign |
Het |
| Fbxl8 |
T |
G |
8: 105,993,739 (GRCm39) |
C32G |
probably damaging |
Het |
| Fbxw17 |
A |
G |
13: 50,573,897 (GRCm39) |
T38A |
probably damaging |
Het |
| Flii |
A |
T |
11: 60,607,512 (GRCm39) |
L882Q |
possibly damaging |
Het |
| Focad |
T |
G |
4: 88,278,121 (GRCm39) |
S1197A |
unknown |
Het |
| H1f11-ps |
A |
G |
19: 47,159,356 (GRCm39) |
V73A |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,102,536 (GRCm39) |
R1281* |
probably null |
Het |
| Khdc3 |
A |
G |
9: 73,010,720 (GRCm39) |
Q190R |
probably benign |
Het |
| Krt9 |
T |
A |
11: 100,082,068 (GRCm39) |
D244V |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,724 (GRCm39) |
E463G |
probably benign |
Het |
| Lig4 |
A |
T |
8: 10,023,003 (GRCm39) |
V259E |
possibly damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,186,806 (GRCm39) |
|
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,563,579 (GRCm39) |
E22G |
probably damaging |
Het |
| Mmp23 |
T |
G |
4: 155,735,797 (GRCm39) |
D258A |
probably damaging |
Het |
| Msantd2 |
C |
T |
9: 37,434,509 (GRCm39) |
R250* |
probably null |
Het |
| Mynn |
T |
C |
3: 30,665,738 (GRCm39) |
S457P |
probably benign |
Het |
| Nectin1 |
C |
T |
9: 43,714,795 (GRCm39) |
H50Y |
probably damaging |
Het |
| Or10a3b |
T |
C |
7: 108,444,906 (GRCm39) |
I104V |
probably benign |
Het |
| Or2d3c |
C |
T |
7: 106,525,776 (GRCm39) |
V297M |
possibly damaging |
Het |
| Or4a47 |
G |
A |
2: 89,665,578 (GRCm39) |
T237I |
possibly damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,026 (GRCm39) |
N93S |
probably benign |
Het |
| Pfkfb2 |
G |
A |
1: 130,629,527 (GRCm39) |
T303M |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,368,705 (GRCm39) |
D841G |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,201,094 (GRCm39) |
|
probably null |
Het |
| Podnl1 |
C |
T |
8: 84,857,272 (GRCm39) |
H294Y |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,579,994 (GRCm39) |
D509E |
unknown |
Het |
| Ppp1r16a |
T |
A |
15: 76,578,596 (GRCm39) |
Y433* |
probably null |
Het |
| Prdm1 |
A |
C |
10: 44,326,221 (GRCm39) |
V134G |
possibly damaging |
Het |
| Prx |
T |
C |
7: 27,217,901 (GRCm39) |
S940P |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,930,339 (GRCm39) |
V731I |
probably damaging |
Het |
| Qki |
A |
G |
17: 10,457,820 (GRCm39) |
|
probably null |
Het |
| Rassf6 |
T |
C |
5: 90,754,699 (GRCm39) |
K206R |
possibly damaging |
Het |
| Rdh16f2 |
G |
A |
10: 127,712,124 (GRCm39) |
E194K |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,522,328 (GRCm39) |
G457* |
probably null |
Het |
| Ripk1 |
T |
G |
13: 34,197,279 (GRCm39) |
I123R |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,383,422 (GRCm39) |
S170R |
probably benign |
Het |
| Shc3 |
A |
T |
13: 51,615,413 (GRCm39) |
F181L |
probably damaging |
Het |
| Siglec1 |
A |
C |
2: 130,927,497 (GRCm39) |
V103G |
probably damaging |
Het |
| Slc26a11 |
G |
T |
11: 119,268,085 (GRCm39) |
A488S |
possibly damaging |
Het |
| Smoc2 |
A |
T |
17: 14,556,841 (GRCm39) |
T97S |
probably damaging |
Het |
| Son |
T |
C |
16: 91,451,910 (GRCm39) |
I219T |
possibly damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,071,510 (GRCm39) |
I1474N |
possibly damaging |
Het |
| Syt16 |
A |
T |
12: 74,269,542 (GRCm39) |
D127V |
possibly damaging |
Het |
| Tet1 |
G |
T |
10: 62,714,357 (GRCm39) |
N479K |
possibly damaging |
Het |
| Thsd7a |
G |
A |
6: 12,338,654 (GRCm39) |
A1192V |
probably benign |
Het |
| Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
| Traj57 |
A |
G |
14: 54,396,016 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
G |
T |
11: 73,129,342 (GRCm39) |
R86S |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,343,673 (GRCm39) |
F434L |
possibly damaging |
Het |
| Vmn2r59 |
A |
C |
7: 41,691,834 (GRCm39) |
|
probably null |
Het |
| Vmn2r71 |
T |
A |
7: 85,268,430 (GRCm39) |
I211N |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,422,599 (GRCm39) |
D186E |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,696,691 (GRCm39) |
S321P |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,133,670 (GRCm39) |
D19E |
probably benign |
Het |
| Zc3h12c |
A |
G |
9: 52,037,947 (GRCm39) |
F278L |
probably damaging |
Het |
| Zpld1 |
T |
C |
16: 55,067,007 (GRCm39) |
T183A |
probably damaging |
Het |
| Zswim2 |
G |
T |
2: 83,770,010 (GRCm39) |
T68K |
possibly 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 |
|
|
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'- AGCTTTCAGTCGCAGCACTG -3'
(R):5'- ATGTGATCGCCGTCTCTCTG -3'
Sequencing Primer
(F):5'- AGCACTGCTGGCTCCCTTC -3'
(R):5'- GATCGCCGTCTCTCTGGGATC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation