Incidental Mutation 'R4435:Zswim3'
| ID |
329472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim3
|
| Ensembl Gene |
ENSMUSG00000045822 |
| Gene Name |
zinc finger SWIM-type containing 3 |
| Synonyms |
4921517A06Rik |
| MMRRC Submission |
041149-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R4435 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164647034-164664047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 164662563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 348
(C348S)
|
| 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 benign
Transcript: ENSMUST00000052107
AA Change: C348S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822
AA Change: C348S
| 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
|
| Meta Mutation Damage Score |
0.0630 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,822,900 (GRCm39) |
S523L |
probably damaging |
Het |
| Arap1 |
C |
A |
7: 101,039,461 (GRCm39) |
R574S |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,439,920 (GRCm39) |
I576V |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,597,981 (GRCm39) |
V1283D |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,387,232 (GRCm39) |
|
probably null |
Het |
| Asrgl1 |
C |
T |
19: 9,096,563 (GRCm39) |
V125I |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,320,942 (GRCm39) |
R239G |
probably benign |
Het |
| Cdyl |
T |
C |
13: 36,042,233 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
C |
7: 55,549,789 (GRCm39) |
I650T |
probably damaging |
Het |
| Dennd4c |
C |
A |
4: 86,716,312 (GRCm39) |
Q506K |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,320,588 (GRCm39) |
D1313G |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Gm5134 |
T |
G |
10: 75,831,658 (GRCm39) |
S366A |
probably damaging |
Het |
| Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
| Gpn3 |
A |
G |
5: 122,520,115 (GRCm39) |
D223G |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,111,623 (GRCm39) |
Y713H |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,476,234 (GRCm39) |
L14P |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,519,875 (GRCm39) |
N2078K |
possibly damaging |
Het |
| Maf |
T |
A |
8: 116,433,592 (GRCm39) |
E4V |
unknown |
Het |
| Mbtd1 |
T |
A |
11: 93,823,048 (GRCm39) |
D489E |
probably benign |
Het |
| Myrip |
C |
T |
9: 120,164,680 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,345,896 (GRCm39) |
D816G |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,414,764 (GRCm39) |
V934A |
possibly damaging |
Het |
| Or2a12 |
T |
A |
6: 42,905,023 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,229 (GRCm39) |
M81V |
probably benign |
Het |
| Psd |
A |
T |
19: 46,302,933 (GRCm39) |
I158N |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,520,916 (GRCm39) |
V752A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Senp2 |
T |
A |
16: 21,832,991 (GRCm39) |
V93E |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,906,899 (GRCm39) |
S280G |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,661,473 (GRCm39) |
E666G |
possibly damaging |
Het |
| Strip2 |
T |
C |
6: 29,925,049 (GRCm39) |
V129A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,219 (GRCm39) |
E4610G |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,223,636 (GRCm39) |
E212G |
probably damaging |
Het |
| Zc3h18 |
T |
C |
8: 123,140,691 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCTGATTGGCCCAAGGTC -3'
(R):5'- AAGAGGCTTGACACCTTGC -3'
Sequencing Primer
(F):5'- CCGAGCGATCTTACAGGAGATCTTC -3'
(R):5'- CTGGTGACTATGTCTAGGCTGTCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation