Incidental Mutation 'IGL02166:Zswim2'
ID |
282698 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zswim2
|
Ensembl Gene |
ENSMUSG00000034552 |
Gene Name |
zinc finger SWIM-type containing 2 |
Synonyms |
4933437F18Rik, MEX, 1700025P14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL02166
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
83745423-83771572 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 83745750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 563
(Q563*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044913
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038223]
[ENSMUST00000152829]
|
AlphaFold |
Q9D9X6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038223
AA Change: Q563*
|
SMART Domains |
Protein: ENSMUSP00000044913 Gene: ENSMUSG00000034552 AA Change: Q563*
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
|
SMART Domains |
Protein: ENSMUSP00000119439 Gene: ENSMUSG00000034552
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aopep |
A |
G |
13: 63,163,267 (GRCm39) |
H96R |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cdh8 |
T |
C |
8: 99,917,083 (GRCm39) |
D344G |
probably damaging |
Het |
Ciao3 |
A |
G |
17: 25,999,294 (GRCm39) |
D236G |
possibly damaging |
Het |
Cltc |
T |
C |
11: 86,594,914 (GRCm39) |
I1399V |
probably benign |
Het |
Col4a1 |
A |
T |
8: 11,294,509 (GRCm39) |
|
probably benign |
Het |
Crtc3 |
C |
T |
7: 80,327,147 (GRCm39) |
G60R |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,594,999 (GRCm39) |
V701M |
probably damaging |
Het |
Eif3b |
T |
A |
5: 140,425,705 (GRCm39) |
C632S |
possibly damaging |
Het |
Ephb3 |
G |
A |
16: 21,039,499 (GRCm39) |
R417Q |
probably damaging |
Het |
Fpr3 |
T |
C |
17: 18,190,726 (GRCm39) |
|
probably benign |
Het |
Hpdl |
A |
G |
4: 116,678,149 (GRCm39) |
V104A |
probably damaging |
Het |
Ighv1-55 |
T |
C |
12: 115,171,840 (GRCm39) |
S76G |
probably benign |
Het |
Ikbip |
T |
C |
10: 90,931,652 (GRCm39) |
S99P |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,360,061 (GRCm39) |
E318G |
probably damaging |
Het |
Lrrc66 |
G |
A |
5: 73,764,634 (GRCm39) |
T803M |
probably damaging |
Het |
Nxf2 |
C |
A |
X: 133,857,878 (GRCm39) |
W89L |
possibly damaging |
Het |
Or2y11 |
A |
G |
11: 49,442,757 (GRCm39) |
Y61C |
probably damaging |
Het |
Or5d46 |
A |
T |
2: 88,170,022 (GRCm39) |
I38F |
probably damaging |
Het |
Or6c3b |
T |
A |
10: 129,527,782 (GRCm39) |
I43F |
probably benign |
Het |
Osbp2 |
A |
T |
11: 3,667,983 (GRCm39) |
C5S |
probably damaging |
Het |
Ovol2 |
T |
C |
2: 144,147,650 (GRCm39) |
N200S |
possibly damaging |
Het |
Ppp4r1 |
A |
G |
17: 66,120,487 (GRCm39) |
D207G |
probably benign |
Het |
Prdm11 |
C |
T |
2: 92,843,208 (GRCm39) |
V84M |
probably damaging |
Het |
Rspo3 |
T |
A |
10: 29,411,275 (GRCm39) |
E17V |
possibly damaging |
Het |
Scarf2 |
A |
G |
16: 17,621,620 (GRCm39) |
N357D |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,323,447 (GRCm39) |
D1447E |
possibly damaging |
Het |
Sdad1 |
G |
A |
5: 92,439,621 (GRCm39) |
T433I |
probably benign |
Het |
Seh1l |
A |
G |
18: 67,918,093 (GRCm39) |
N149S |
probably damaging |
Het |
Sigirr |
T |
C |
7: 140,672,140 (GRCm39) |
I268M |
probably benign |
Het |
Slc35d2 |
A |
G |
13: 64,246,162 (GRCm39) |
F282S |
probably damaging |
Het |
Slc4a1 |
A |
T |
11: 102,245,159 (GRCm39) |
M596K |
probably damaging |
Het |
Spta1 |
G |
A |
1: 174,017,797 (GRCm39) |
E494K |
probably damaging |
Het |
Stk32b |
C |
A |
5: 37,656,374 (GRCm39) |
|
probably benign |
Het |
Tex13b |
T |
C |
X: 139,713,475 (GRCm39) |
E122G |
probably damaging |
Het |
Tmem35a |
A |
G |
X: 133,205,357 (GRCm39) |
N91S |
probably damaging |
Het |
Tmem67 |
A |
G |
4: 12,047,313 (GRCm39) |
V841A |
possibly damaging |
Het |
Trdv2-1 |
A |
G |
14: 54,184,068 (GRCm39) |
D100G |
probably benign |
Het |
Tshz3 |
T |
C |
7: 36,468,346 (GRCm39) |
S112P |
probably benign |
Het |
Tssc4 |
T |
C |
7: 142,623,938 (GRCm39) |
M82T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,562,723 (GRCm39) |
S28744P |
probably damaging |
Het |
Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
Vim |
T |
C |
2: 13,579,405 (GRCm39) |
S55P |
probably damaging |
Het |
Zmat5 |
T |
A |
11: 4,687,363 (GRCm39) |
Y139N |
possibly damaging |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |