Incidental Mutation 'R7955:Zswim2'
| ID |
649752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim2
|
| Ensembl Gene |
ENSMUSG00000034552 |
| Gene Name |
zinc finger SWIM-type containing 2 |
| Synonyms |
4933437F18Rik, MEX, 1700025P14Rik |
| MMRRC Submission |
045999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R7955 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
83745423-83771572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 83747227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 353
(F353V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038223]
[ENSMUST00000152829]
|
| AlphaFold |
Q9D9X6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038223
AA Change: F353V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044913
Gene: ENSMUSG00000034552
AA Change: F353V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIM
|
54 |
87 |
1.4e-7 |
PFAM |
|
RING
|
147 |
198 |
8.3e-5 |
SMART |
|
ZnF_ZZ
|
229 |
273 |
1.8e-5 |
SMART |
|
RING
|
344 |
385 |
1.3e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152829
AA Change: F353V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119439
Gene: ENSMUSG00000034552
AA Change: F353V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIM
|
54 |
87 |
1.6e-10 |
PFAM |
|
RING
|
147 |
198 |
1.69e-2 |
SMART |
|
ZnF_ZZ
|
229 |
273 |
3.65e-3 |
SMART |
|
Blast:RING
|
344 |
365 |
3e-6 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
T |
A |
17: 33,764,613 (GRCm39) |
V711D |
probably damaging |
Het |
| Adgrg5 |
G |
A |
8: 95,664,325 (GRCm39) |
V312M |
|
Het |
| Ankrd53 |
A |
G |
6: 83,744,845 (GRCm39) |
T352A |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,831,088 (GRCm39) |
M512L |
probably null |
Het |
| AW551984 |
A |
G |
9: 39,507,960 (GRCm39) |
F392S |
probably damaging |
Het |
| Chrna7 |
T |
G |
7: 62,753,541 (GRCm39) |
K326T |
possibly damaging |
Het |
| Cldnd2 |
G |
T |
7: 43,091,120 (GRCm39) |
L17F |
possibly damaging |
Het |
| Clvs2 |
T |
C |
10: 33,471,808 (GRCm39) |
N166D |
possibly damaging |
Het |
| Cox10 |
A |
T |
11: 63,884,750 (GRCm39) |
N218K |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
| Daxx |
T |
A |
17: 34,131,229 (GRCm39) |
Y385* |
probably null |
Het |
| Dnmbp |
T |
C |
19: 43,890,762 (GRCm39) |
E335G |
probably benign |
Het |
| Erich3 |
C |
T |
3: 154,444,951 (GRCm39) |
Q376* |
probably null |
Het |
| Flot2 |
A |
G |
11: 77,949,769 (GRCm39) |
|
probably null |
Het |
| Ganc |
A |
G |
2: 120,261,181 (GRCm39) |
T289A |
probably damaging |
Het |
| Gm19668 |
G |
A |
10: 77,634,630 (GRCm39) |
T113I |
unknown |
Het |
| Gpm6a |
A |
G |
8: 55,511,840 (GRCm39) |
N238S |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,759,221 (GRCm39) |
T124A |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,186,816 (GRCm39) |
V48A |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,594,070 (GRCm39) |
H205R |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,452,875 (GRCm39) |
S588R |
probably damaging |
Het |
| Mocos |
A |
G |
18: 24,799,216 (GRCm39) |
D150G |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,979,354 (GRCm39) |
D576G |
possibly damaging |
Het |
| Mybpc3 |
A |
G |
2: 90,956,401 (GRCm39) |
|
probably null |
Het |
| Myo3b |
A |
T |
2: 69,925,623 (GRCm39) |
Y58F |
probably benign |
Het |
| Ndst3 |
T |
G |
3: 123,400,586 (GRCm39) |
K440T |
probably benign |
Het |
| Ndst4 |
T |
A |
3: 125,231,831 (GRCm39) |
Y133* |
probably null |
Het |
| Nrcam |
G |
A |
12: 44,631,737 (GRCm39) |
V1097M |
probably benign |
Het |
| Or6z1 |
A |
G |
7: 6,505,078 (GRCm39) |
I49T |
possibly damaging |
Het |
| Rabep1 |
A |
G |
11: 70,808,267 (GRCm39) |
T408A |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,507,322 (GRCm39) |
D609E |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,781,907 (GRCm39) |
K172E |
probably benign |
Het |
| Slc12a9 |
A |
C |
5: 137,323,808 (GRCm39) |
L369R |
probably damaging |
Het |
| Slc30a1 |
T |
C |
1: 191,639,395 (GRCm39) |
C93R |
probably damaging |
Het |
| Tex35 |
C |
T |
1: 156,927,742 (GRCm39) |
D143N |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,880,400 (GRCm39) |
Y402F |
probably benign |
Het |
| Tmem17 |
T |
A |
11: 22,468,490 (GRCm39) |
I143K |
possibly damaging |
Het |
| Tmprss11f |
A |
C |
5: 86,692,682 (GRCm39) |
S81A |
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,066,225 (GRCm39) |
P834S |
possibly damaging |
Het |
| Trpm4 |
C |
A |
7: 44,968,683 (GRCm39) |
G417W |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,831,654 (GRCm39) |
R1506S |
probably benign |
Het |
| Tspan18 |
A |
G |
2: 93,040,305 (GRCm39) |
V150A |
possibly damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,352 (GRCm39) |
F4L |
probably benign |
Het |
| Zdhhc4 |
A |
T |
5: 143,307,619 (GRCm39) |
L134H |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,577,416 (GRCm39) |
S1232R |
probably benign |
Het |
|
| Other mutations in Zswim2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00844:Zswim2
|
APN |
2 |
83,754,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01140:Zswim2
|
APN |
2 |
83,745,672 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01362:Zswim2
|
APN |
2 |
83,745,690 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01768:Zswim2
|
APN |
2 |
83,748,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02166:Zswim2
|
APN |
2 |
83,745,750 (GRCm39) |
nonsense |
probably null |
|
|
IGL02187:Zswim2
|
APN |
2 |
83,753,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02239:Zswim2
|
APN |
2 |
83,769,107 (GRCm39) |
nonsense |
probably null |
|
|
IGL02629:Zswim2
|
APN |
2 |
83,755,553 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0609:Zswim2
|
UTSW |
2 |
83,754,003 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0943:Zswim2
|
UTSW |
2 |
83,748,342 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0946:Zswim2
|
UTSW |
2 |
83,754,103 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1006:Zswim2
|
UTSW |
2 |
83,745,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1191:Zswim2
|
UTSW |
2 |
83,754,039 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1309:Zswim2
|
UTSW |
2 |
83,769,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1549:Zswim2
|
UTSW |
2 |
83,754,092 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1563:Zswim2
|
UTSW |
2 |
83,745,626 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1739:Zswim2
|
UTSW |
2 |
83,745,684 (GRCm39) |
nonsense |
probably null |
|
|
R1994:Zswim2
|
UTSW |
2 |
83,746,007 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4039:Zswim2
|
UTSW |
2 |
83,746,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4645:Zswim2
|
UTSW |
2 |
83,745,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4738:Zswim2
|
UTSW |
2 |
83,745,739 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4855:Zswim2
|
UTSW |
2 |
83,747,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4933:Zswim2
|
UTSW |
2 |
83,755,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Zswim2
|
UTSW |
2 |
83,755,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Zswim2
|
UTSW |
2 |
83,770,010 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5401:Zswim2
|
UTSW |
2 |
83,755,589 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5698:Zswim2
|
UTSW |
2 |
83,755,527 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6002:Zswim2
|
UTSW |
2 |
83,746,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6396:Zswim2
|
UTSW |
2 |
83,754,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6447:Zswim2
|
UTSW |
2 |
83,745,457 (GRCm39) |
splice site |
probably null |
|
|
R6646:Zswim2
|
UTSW |
2 |
83,746,128 (GRCm39) |
nonsense |
probably null |
|
|
R6717:Zswim2
|
UTSW |
2 |
83,745,753 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6735:Zswim2
|
UTSW |
2 |
83,754,105 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6830:Zswim2
|
UTSW |
2 |
83,770,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7056:Zswim2
|
UTSW |
2 |
83,751,092 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7088:Zswim2
|
UTSW |
2 |
83,746,071 (GRCm39) |
nonsense |
probably null |
|
|
R7383:Zswim2
|
UTSW |
2 |
83,745,672 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7440:Zswim2
|
UTSW |
2 |
83,751,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Zswim2
|
UTSW |
2 |
83,745,951 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7983:Zswim2
|
UTSW |
2 |
83,753,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8765:Zswim2
|
UTSW |
2 |
83,771,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9295:Zswim2
|
UTSW |
2 |
83,748,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9465:Zswim2
|
UTSW |
2 |
83,746,275 (GRCm39) |
missense |
probably benign |
0.21 |
|
X0018:Zswim2
|
UTSW |
2 |
83,771,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCAAGATACCTCCTCTGCAG -3'
(R):5'- GCCAATCTGTGCTCTGGATTAC -3'
Sequencing Primer
(F):5'- GTCCACCTGTGTTGTGCCAG -3'
(R):5'- GTGCTCTGGATTACTTTCTAATCTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation