Incidental Mutation 'IGL00517:Zswim3'
| ID |
6971 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zswim3
|
| Ensembl Gene |
ENSMUSG00000045822 |
| Gene Name |
zinc finger SWIM-type containing 3 |
| Synonyms |
4921517A06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL00517
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164647034-164664047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164663011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 497
(L497S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017908]
[ENSMUST00000052107]
[ENSMUST00000132282]
|
| AlphaFold |
Q8CFL8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017908
|
| SMART Domains |
Protein: ENSMUSP00000017908
Gene: ENSMUSG00000017764
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIM
|
342 |
375 |
2e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052107
AA Change: L497S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822
AA Change: L497S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
436 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
489 |
N/A |
INTRINSIC |
|
ZnF_PMZ
|
546 |
573 |
2.09e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132282
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
C |
T |
7: 101,037,256 (GRCm39) |
R180W |
probably damaging |
Het |
| Atg4a |
T |
A |
X: 139,945,488 (GRCm39) |
M345K |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,015,077 (GRCm39) |
V408A |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,884,988 (GRCm39) |
G551D |
probably damaging |
Het |
| Cdh2 |
A |
C |
18: 16,760,693 (GRCm39) |
V558G |
possibly damaging |
Het |
| Col9a1 |
T |
A |
1: 24,234,615 (GRCm39) |
|
probably benign |
Het |
| Fbxo15 |
T |
A |
18: 84,977,225 (GRCm39) |
F46I |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,653,478 (GRCm39) |
I497T |
probably damaging |
Het |
| Gtf2f2 |
A |
G |
14: 76,232,941 (GRCm39) |
V75A |
probably benign |
Het |
| Hpse |
T |
C |
5: 100,839,196 (GRCm39) |
H384R |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 27,073,326 (GRCm39) |
T1044S |
probably benign |
Het |
| Lamp2 |
T |
C |
X: 37,545,186 (GRCm39) |
|
probably benign |
Het |
| Lipe |
C |
A |
7: 25,087,985 (GRCm39) |
|
probably null |
Het |
| Marf1 |
T |
C |
16: 13,933,606 (GRCm39) |
E1594G |
possibly damaging |
Het |
| Mettl24 |
T |
C |
10: 40,686,496 (GRCm39) |
V291A |
probably benign |
Het |
| Patj |
G |
T |
4: 98,329,308 (GRCm39) |
V521F |
possibly damaging |
Het |
| Prkg1 |
A |
T |
19: 30,872,068 (GRCm39) |
D242E |
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,112,267 (GRCm39) |
I92V |
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,852,534 (GRCm39) |
Y367H |
probably damaging |
Het |
| Rpl21-ps4 |
T |
C |
14: 11,227,544 (GRCm38) |
|
noncoding transcript |
Het |
| Sigirr |
T |
C |
7: 140,672,147 (GRCm39) |
E266G |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,988,547 (GRCm39) |
T387A |
probably benign |
Het |
| Smim22 |
T |
C |
16: 4,825,860 (GRCm39) |
L54P |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,566,206 (GRCm39) |
|
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,259,967 (GRCm39) |
V363A |
possibly damaging |
Het |
|
| Other mutations in Zswim3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01345:Zswim3
|
APN |
2 |
164,662,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Zswim3
|
APN |
2 |
164,663,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01621:Zswim3
|
APN |
2 |
164,663,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01634:Zswim3
|
APN |
2 |
164,661,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02165:Zswim3
|
APN |
2 |
164,663,035 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02173:Zswim3
|
APN |
2 |
164,662,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02336:Zswim3
|
APN |
2 |
164,662,297 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02379:Zswim3
|
APN |
2 |
164,662,602 (GRCm39) |
splice site |
probably null |
|
|
R0321:Zswim3
|
UTSW |
2 |
164,662,279 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1489:Zswim3
|
UTSW |
2 |
164,661,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Zswim3
|
UTSW |
2 |
164,661,913 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2176:Zswim3
|
UTSW |
2 |
164,662,614 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2859:Zswim3
|
UTSW |
2 |
164,662,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3853:Zswim3
|
UTSW |
2 |
164,662,777 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4434:Zswim3
|
UTSW |
2 |
164,662,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4435:Zswim3
|
UTSW |
2 |
164,662,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4436:Zswim3
|
UTSW |
2 |
164,662,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4438:Zswim3
|
UTSW |
2 |
164,662,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4805:Zswim3
|
UTSW |
2 |
164,662,099 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5874:Zswim3
|
UTSW |
2 |
164,662,032 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6417:Zswim3
|
UTSW |
2 |
164,662,653 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6420:Zswim3
|
UTSW |
2 |
164,662,653 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6722:Zswim3
|
UTSW |
2 |
164,662,544 (GRCm39) |
splice site |
probably null |
|
|
R6786:Zswim3
|
UTSW |
2 |
164,662,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7266:Zswim3
|
UTSW |
2 |
164,662,402 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7467:Zswim3
|
UTSW |
2 |
164,661,795 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7487:Zswim3
|
UTSW |
2 |
164,662,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7788:Zswim3
|
UTSW |
2 |
164,661,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Zswim3
|
UTSW |
2 |
164,662,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8308:Zswim3
|
UTSW |
2 |
164,663,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Zswim3
|
UTSW |
2 |
164,662,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9353:Zswim3
|
UTSW |
2 |
164,662,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9527:Zswim3
|
UTSW |
2 |
164,662,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation