Incidental Mutation 'IGL01926:Zswim9'
| ID |
180288 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zswim9
|
| Ensembl Gene |
ENSMUSG00000070814 |
| Gene Name |
zinc finger SWIM-type containing 9 |
| Synonyms |
6330408A02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL01926
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
12992894-13012647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12994248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 636
(V636D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108532]
[ENSMUST00000119139]
[ENSMUST00000119558]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108532
AA Change: V636D
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104172
Gene: ENSMUSG00000070814
AA Change: V636D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119139
|
| SMART Domains |
Protein: ENSMUSP00000112652
Gene: ENSMUSG00000070814
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119558
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
T |
11: 110,026,155 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
C |
T |
7: 144,164,612 (GRCm39) |
V671M |
possibly damaging |
Het |
| Atf7ip2 |
G |
T |
16: 10,059,749 (GRCm39) |
D430Y |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,501,797 (GRCm39) |
D740E |
probably damaging |
Het |
| Bbs1 |
A |
C |
19: 4,952,891 (GRCm39) |
S191A |
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,777,679 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,791,099 (GRCm39) |
I244T |
probably benign |
Het |
| Dsg1a |
G |
T |
18: 20,466,641 (GRCm39) |
D504Y |
possibly damaging |
Het |
| Eif3a |
T |
C |
19: 60,758,399 (GRCm39) |
D793G |
unknown |
Het |
| Exoc4 |
C |
A |
6: 33,839,077 (GRCm39) |
D704E |
probably damaging |
Het |
| Fmo5 |
A |
C |
3: 97,544,797 (GRCm39) |
T109P |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,439,935 (GRCm39) |
I179V |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Irs1 |
G |
T |
1: 82,267,680 (GRCm39) |
R179S |
probably damaging |
Het |
| Jmy |
A |
T |
13: 93,596,294 (GRCm39) |
V445E |
probably damaging |
Het |
| Jup |
C |
A |
11: 100,274,412 (GRCm39) |
V93F |
probably benign |
Het |
| Krt20 |
T |
C |
11: 99,328,652 (GRCm39) |
Y91C |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,013,063 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
C |
T |
2: 90,965,752 (GRCm39) |
T1188I |
possibly damaging |
Het |
| Myt1 |
T |
C |
2: 181,463,790 (GRCm39) |
L1032P |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,436,704 (GRCm39) |
N606K |
probably damaging |
Het |
| Nfrkb |
A |
T |
9: 31,325,475 (GRCm39) |
M973L |
probably benign |
Het |
| Or5aq6 |
C |
T |
2: 86,923,318 (GRCm39) |
C141Y |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,480,105 (GRCm39) |
T133S |
possibly damaging |
Het |
| Parp8 |
T |
C |
13: 116,998,838 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,471,642 (GRCm39) |
M131K |
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,133,484 (GRCm39) |
S207T |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,314,306 (GRCm39) |
M1K |
probably null |
Het |
| Prr15 |
A |
G |
6: 54,306,490 (GRCm39) |
K83E |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,504,123 (GRCm39) |
N5S |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,357,485 (GRCm39) |
H169L |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,910,823 (GRCm39) |
I85V |
probably benign |
Het |
| Tmc2 |
T |
C |
2: 130,102,160 (GRCm39) |
I775T |
possibly damaging |
Het |
| Trnau1ap |
A |
T |
4: 132,046,873 (GRCm39) |
F141L |
probably benign |
Het |
| Zscan4d |
A |
G |
7: 10,898,921 (GRCm39) |
C119R |
probably damaging |
Het |
|
| Other mutations in Zswim9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02063:Zswim9
|
APN |
7 |
12,994,608 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0568:Zswim9
|
UTSW |
7 |
12,994,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0680:Zswim9
|
UTSW |
7 |
12,994,248 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1438:Zswim9
|
UTSW |
7 |
13,011,144 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1600:Zswim9
|
UTSW |
7 |
13,003,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Zswim9
|
UTSW |
7 |
13,011,337 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1745:Zswim9
|
UTSW |
7 |
13,003,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Zswim9
|
UTSW |
7 |
12,994,141 (GRCm39) |
nonsense |
probably null |
|
|
R2025:Zswim9
|
UTSW |
7 |
13,003,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3149:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3150:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3176:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3177:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3276:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3277:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3950:Zswim9
|
UTSW |
7 |
12,995,503 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4554:Zswim9
|
UTSW |
7 |
13,011,088 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4866:Zswim9
|
UTSW |
7 |
12,995,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4953:Zswim9
|
UTSW |
7 |
13,003,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Zswim9
|
UTSW |
7 |
12,993,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5394:Zswim9
|
UTSW |
7 |
12,994,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Zswim9
|
UTSW |
7 |
12,994,753 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5654:Zswim9
|
UTSW |
7 |
12,995,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5810:Zswim9
|
UTSW |
7 |
12,994,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5859:Zswim9
|
UTSW |
7 |
12,995,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6235:Zswim9
|
UTSW |
7 |
12,995,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Zswim9
|
UTSW |
7 |
12,995,257 (GRCm39) |
nonsense |
probably null |
|
|
R6249:Zswim9
|
UTSW |
7 |
12,994,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6394:Zswim9
|
UTSW |
7 |
12,994,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7077:Zswim9
|
UTSW |
7 |
12,993,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Zswim9
|
UTSW |
7 |
12,993,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7178:Zswim9
|
UTSW |
7 |
12,993,924 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7595:Zswim9
|
UTSW |
7 |
12,994,998 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8005:Zswim9
|
UTSW |
7 |
12,995,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8138:Zswim9
|
UTSW |
7 |
12,995,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8282:Zswim9
|
UTSW |
7 |
12,995,536 (GRCm39) |
missense |
probably benign |
|
|
R8818:Zswim9
|
UTSW |
7 |
12,994,456 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9241:Zswim9
|
UTSW |
7 |
13,003,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9277:Zswim9
|
UTSW |
7 |
12,994,983 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9787:Zswim9
|
UTSW |
7 |
12,994,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation