Incidental Mutation 'R3853:Zswim3'
ID |
275998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim3
|
Ensembl Gene |
ENSMUSG00000045822 |
Gene Name |
zinc finger SWIM-type containing 3 |
Synonyms |
4921517A06Rik |
MMRRC Submission |
040900-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R3853 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
164647034-164664047 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 164662777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 419
(Y419C)
|
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 |
possibly damaging
Transcript: ENSMUST00000052107
AA Change: Y419C
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000050970 Gene: ENSMUSG00000045822 AA Change: Y419C
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 |
0.0662 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,055,976 (GRCm39) |
H316L |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,509,090 (GRCm38) |
|
probably benign |
Het |
Cluh |
A |
G |
11: 74,547,279 (GRCm39) |
D44G |
probably benign |
Het |
Copb1 |
A |
G |
7: 113,822,551 (GRCm39) |
V726A |
probably damaging |
Het |
Dsg4 |
T |
C |
18: 20,582,291 (GRCm39) |
V79A |
probably benign |
Het |
Exo1 |
A |
T |
1: 175,720,554 (GRCm39) |
I291F |
probably benign |
Het |
Eya4 |
C |
T |
10: 22,992,574 (GRCm39) |
A460T |
probably damaging |
Het |
Gjd3 |
G |
T |
11: 102,690,952 (GRCm39) |
D350E |
probably benign |
Het |
Hcar2 |
T |
C |
5: 124,002,475 (GRCm39) |
M343V |
probably benign |
Het |
Ifna15 |
T |
C |
4: 88,476,046 (GRCm39) |
Y146C |
probably damaging |
Het |
Lce3e |
C |
T |
3: 92,875,139 (GRCm39) |
Q32* |
probably null |
Het |
Llgl1 |
T |
C |
11: 60,598,075 (GRCm39) |
L373P |
probably damaging |
Het |
Mark2 |
A |
G |
19: 7,254,655 (GRCm39) |
C642R |
probably damaging |
Het |
Mbd3l2 |
A |
G |
9: 18,356,092 (GRCm39) |
Q139R |
probably benign |
Het |
Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
Nynrin |
T |
A |
14: 56,101,562 (GRCm39) |
N410K |
probably benign |
Het |
Or10g7 |
A |
T |
9: 39,905,450 (GRCm39) |
T115S |
probably damaging |
Het |
Or4a71 |
A |
T |
2: 89,357,917 (GRCm39) |
M279K |
possibly damaging |
Het |
Or5b112 |
A |
G |
19: 13,319,862 (GRCm39) |
T247A |
possibly damaging |
Het |
Or7a38 |
T |
A |
10: 78,752,781 (GRCm39) |
Y36N |
probably damaging |
Het |
Or8b1 |
G |
T |
9: 38,400,247 (GRCm39) |
R307S |
probably benign |
Het |
Padi3 |
T |
C |
4: 140,518,580 (GRCm39) |
|
probably benign |
Het |
Prkce |
A |
G |
17: 86,476,277 (GRCm39) |
D86G |
probably damaging |
Het |
Pwwp3b |
C |
T |
X: 138,137,403 (GRCm39) |
|
probably null |
Het |
Rad21 |
T |
G |
15: 51,835,712 (GRCm39) |
I234L |
probably benign |
Het |
Scn4a |
A |
T |
11: 106,210,932 (GRCm39) |
M1695K |
possibly damaging |
Het |
Sdccag8 |
T |
C |
1: 176,681,361 (GRCm39) |
S325P |
probably damaging |
Het |
Sebox |
G |
A |
11: 78,394,975 (GRCm39) |
G106R |
probably benign |
Het |
Serpinb9 |
A |
G |
13: 33,199,503 (GRCm39) |
E266G |
possibly damaging |
Het |
Shoc1 |
T |
C |
4: 59,047,390 (GRCm39) |
N1410D |
possibly damaging |
Het |
Snx14 |
T |
C |
9: 88,289,372 (GRCm39) |
|
probably benign |
Het |
Tmc6 |
A |
T |
11: 117,663,884 (GRCm39) |
L474* |
probably null |
Het |
Tmem132c |
T |
C |
5: 127,436,933 (GRCm39) |
Y141H |
probably benign |
Het |
Trap1 |
G |
A |
16: 3,872,686 (GRCm39) |
R328C |
possibly damaging |
Het |
Trim36 |
C |
A |
18: 46,305,439 (GRCm39) |
|
probably benign |
Het |
Trmt2a |
A |
T |
16: 18,069,055 (GRCm39) |
Y299F |
possibly damaging |
Het |
Trrap |
A |
G |
5: 144,728,975 (GRCm39) |
K630E |
probably damaging |
Het |
Tsnaxip1 |
A |
T |
8: 106,567,333 (GRCm39) |
|
probably benign |
Het |
Ttc6 |
G |
T |
12: 57,775,335 (GRCm39) |
C1677F |
possibly damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,485,018 (GRCm39) |
V2D |
|
Het |
Usp9x |
A |
G |
X: 12,964,822 (GRCm39) |
D77G |
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
Zan |
A |
C |
5: 137,472,326 (GRCm39) |
L140R |
probably damaging |
Het |
Zc3h3 |
A |
T |
15: 75,709,346 (GRCm39) |
S508T |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTCCCAAGTCCTACTAGATGAG -3'
(R):5'- CTGTGGCAACTGAGACTGTG -3'
Sequencing Primer
(F):5'- AGGAACTCTTCAGTTTCCTCCAGG -3'
(R):5'- CAACTGAGACTGTGCTGAGTC -3'
|
Posted On |
2015-04-06 |