Incidental Mutation 'R1549:Zswim2'
| ID |
169764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim2
|
| Ensembl Gene |
ENSMUSG00000034552 |
| Gene Name |
zinc finger SWIM-type containing 2 |
| Synonyms |
4933437F18Rik, MEX, 1700025P14Rik |
| MMRRC Submission |
039588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R1549 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
83745423-83771572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83754092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 189
(D189E)
|
| 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: D189E
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000044913
Gene: ENSMUSG00000034552
AA Change: D189E
| 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: D189E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000119439
Gene: ENSMUSG00000034552
AA Change: D189E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155127
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,210,441 (GRCm39) |
I157K |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,837,812 (GRCm39) |
N727Y |
probably benign |
Het |
| Atg16l1 |
A |
G |
1: 87,701,910 (GRCm39) |
T251A |
probably benign |
Het |
| Bcl11b |
T |
A |
12: 107,883,422 (GRCm39) |
I226F |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,969,737 (GRCm39) |
H4260R |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,670,920 (GRCm39) |
I85T |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,853,373 (GRCm39) |
|
probably benign |
Het |
| Ccnd1 |
T |
G |
7: 144,491,073 (GRCm39) |
I178L |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,294,681 (GRCm39) |
V329A |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,637,349 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,785,034 (GRCm39) |
T254A |
unknown |
Het |
| Ctif |
C |
A |
18: 75,698,096 (GRCm39) |
R188L |
probably damaging |
Het |
| Cyp2c69 |
A |
T |
19: 39,831,430 (GRCm39) |
L461Q |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,796,656 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
T |
A |
1: 123,269,109 (GRCm39) |
|
probably null |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
T |
C |
5: 31,350,265 (GRCm39) |
E19G |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,832,308 (GRCm39) |
L269P |
possibly damaging |
Het |
| Gm2381 |
T |
A |
7: 42,471,825 (GRCm39) |
H18L |
probably benign |
Het |
| Gpbp1 |
G |
T |
13: 111,573,113 (GRCm39) |
D326E |
probably benign |
Het |
| Gpr162 |
C |
T |
6: 124,837,051 (GRCm39) |
R331H |
probably damaging |
Het |
| Iigp1 |
G |
A |
18: 60,522,948 (GRCm39) |
G22D |
probably benign |
Het |
| Kcns3 |
T |
C |
12: 11,142,084 (GRCm39) |
H205R |
probably damaging |
Het |
| Klk1b26 |
C |
T |
7: 43,665,826 (GRCm39) |
|
probably benign |
Het |
| Lime1 |
A |
G |
2: 181,025,169 (GRCm39) |
Y242C |
probably benign |
Het |
| Manba |
A |
G |
3: 135,250,567 (GRCm39) |
D398G |
probably damaging |
Het |
| Mapk3 |
A |
T |
7: 126,362,684 (GRCm39) |
K219* |
probably null |
Het |
| Mdfic |
G |
T |
6: 15,799,844 (GRCm39) |
G324C |
probably damaging |
Het |
| Mdga1 |
G |
A |
17: 30,056,972 (GRCm39) |
H837Y |
probably damaging |
Het |
| Nck1 |
T |
A |
9: 100,379,925 (GRCm39) |
M109L |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,256,076 (GRCm39) |
I194V |
probably benign |
Het |
| Or2w1b |
T |
C |
13: 21,300,288 (GRCm39) |
V142A |
probably benign |
Het |
| Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
| Phf3 |
C |
T |
1: 30,843,923 (GRCm39) |
V1679I |
probably benign |
Het |
| Pou4f1 |
T |
C |
14: 104,705,076 (GRCm39) |
I32V |
probably benign |
Het |
| Pspc1 |
T |
G |
14: 56,986,398 (GRCm39) |
H351P |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,883,578 (GRCm39) |
E829G |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,777,378 (GRCm39) |
Y164C |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,033,596 (GRCm39) |
W141R |
probably damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,267 (GRCm39) |
E446G |
possibly damaging |
Het |
| Stim2 |
G |
A |
5: 54,262,667 (GRCm39) |
R303Q |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,451,579 (GRCm39) |
I550V |
probably benign |
Het |
| Tmed3 |
A |
C |
9: 89,581,998 (GRCm39) |
L155R |
probably damaging |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,284,799 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Usp16 |
G |
T |
16: 87,261,722 (GRCm39) |
V113F |
probably damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,240,696 (GRCm39) |
Y139S |
probably benign |
Het |
| Vmn2r5 |
G |
T |
3: 64,411,421 (GRCm39) |
D382E |
probably damaging |
Het |
| Zfp1010 |
T |
C |
2: 176,957,378 (GRCm39) |
E40G |
probably damaging |
Het |
| Zfp217 |
A |
C |
2: 169,956,390 (GRCm39) |
N869K |
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 |
|
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 |
|
R7955:Zswim2
|
UTSW |
2 |
83,747,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GAGACTTACTTGTAGCACCTCCCCT -3'
(R):5'- CTCCCACAGAGATTGCTCACATGTT -3'
Sequencing Primer
(F):5'- CCTCGATTGGCAGTTGGTTAC -3'
(R):5'- GAAGCTACACTTATTCTGGCCTTATG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation