Incidental Mutation 'IGL01345:Zswim3'
| ID |
75011 |
| 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 # |
IGL01345
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164647034-164664047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 164662057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 179
(L179H)
|
| 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: L179H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822
AA Change: L179H
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
| Atr |
G |
A |
9: 95,823,002 (GRCm39) |
C2323Y |
probably damaging |
Het |
| Ccdc107 |
T |
A |
4: 43,493,453 (GRCm39) |
L8* |
probably null |
Het |
| Erc1 |
T |
A |
6: 119,738,224 (GRCm39) |
K240* |
probably null |
Het |
| Gcat |
T |
C |
15: 78,918,265 (GRCm39) |
|
probably benign |
Het |
| Gm4847 |
A |
T |
1: 166,462,541 (GRCm39) |
D316E |
probably damaging |
Het |
| Gm8267 |
A |
G |
14: 44,962,412 (GRCm39) |
S3P |
probably damaging |
Het |
| Gpr26 |
T |
C |
7: 131,569,161 (GRCm39) |
F169L |
possibly damaging |
Het |
| Itgal |
T |
A |
7: 126,900,128 (GRCm39) |
F129I |
possibly damaging |
Het |
| Kcnk1 |
T |
A |
8: 126,752,146 (GRCm39) |
C251S |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,300,742 (GRCm39) |
D608G |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,320,491 (GRCm39) |
E882G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,266,947 (GRCm39) |
K385E |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,387,020 (GRCm39) |
D854N |
possibly damaging |
Het |
| Rnf220 |
G |
A |
4: 117,130,467 (GRCm39) |
R253* |
probably null |
Het |
| Slc22a15 |
A |
C |
3: 101,787,492 (GRCm39) |
S259R |
probably benign |
Het |
| Tln1 |
G |
A |
4: 43,536,281 (GRCm39) |
L2004F |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,532,054 (GRCm39) |
S126P |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,037,228 (GRCm39) |
T587A |
possibly damaging |
Het |
| Vasn |
A |
G |
16: 4,466,232 (GRCm39) |
I60V |
probably benign |
Het |
| Vps33a |
G |
T |
5: 123,711,006 (GRCm39) |
N13K |
probably benign |
Het |
| Zmiz2 |
A |
G |
11: 6,355,015 (GRCm39) |
D862G |
possibly damaging |
Het |
|
| Other mutations in Zswim3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Zswim3
|
APN |
2 |
164,663,011 (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 |
2013-10-07 |
Incidental Mutation