Incidental Mutation 'R1006:Zswim2'
ID |
95718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim2
|
Ensembl Gene |
ENSMUSG00000034552 |
Gene Name |
zinc finger SWIM-type containing 2 |
Synonyms |
4933437F18Rik, MEX, 1700025P14Rik |
MMRRC Submission |
039116-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R1006 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
83745423-83771572 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 83745737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 567
(S567L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044913
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038223]
[ENSMUST00000152829]
|
AlphaFold |
Q9D9X6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038223
AA Change: S567L
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044913 Gene: ENSMUSG00000034552 AA Change: S567L
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 |
|
Meta Mutation Damage Score |
0.0835 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.8%
- 10x: 93.4%
- 20x: 82.9%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
A |
T |
8: 71,911,085 (GRCm39) |
I282N |
probably benign |
Het |
Akr1c18 |
T |
C |
13: 4,186,654 (GRCm39) |
I265V |
probably benign |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,210,706 (GRCm39) |
I1788V |
probably benign |
Het |
Cacng7 |
T |
A |
7: 3,415,445 (GRCm39) |
I270N |
possibly damaging |
Het |
Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
Cnbd2 |
A |
G |
2: 156,170,328 (GRCm39) |
I138V |
possibly damaging |
Het |
Cntnap5b |
A |
G |
1: 100,311,342 (GRCm39) |
K983E |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,383,331 (GRCm39) |
S1770P |
probably benign |
Het |
Cpsf6 |
A |
T |
10: 117,201,973 (GRCm39) |
|
probably benign |
Het |
Ctsc |
G |
A |
7: 87,959,037 (GRCm39) |
R439H |
probably damaging |
Het |
Dcun1d1 |
A |
G |
3: 35,951,930 (GRCm39) |
|
probably benign |
Het |
Flg2 |
A |
G |
3: 93,108,514 (GRCm39) |
I181V |
probably benign |
Het |
Gbp2 |
A |
T |
3: 142,343,183 (GRCm39) |
S567C |
probably damaging |
Het |
Gm5114 |
A |
G |
7: 39,058,510 (GRCm39) |
S370P |
probably damaging |
Het |
Kcnh7 |
A |
G |
2: 62,546,527 (GRCm39) |
V1018A |
probably benign |
Het |
Kmt2a |
G |
A |
9: 44,758,993 (GRCm39) |
A952V |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,756,326 (GRCm39) |
E340K |
possibly damaging |
Het |
Lim2 |
T |
A |
7: 43,084,826 (GRCm39) |
I141N |
probably damaging |
Het |
Nlrp4a |
T |
C |
7: 26,152,892 (GRCm39) |
V654A |
probably benign |
Het |
Or5b24 |
T |
A |
19: 12,912,638 (GRCm39) |
C179S |
probably damaging |
Het |
Prr14l |
T |
C |
5: 32,986,826 (GRCm39) |
S890G |
probably benign |
Het |
Psmd14 |
T |
A |
2: 61,627,726 (GRCm39) |
|
probably null |
Het |
Ptpn13 |
A |
G |
5: 103,734,655 (GRCm39) |
D2129G |
probably benign |
Het |
Pum1 |
C |
T |
4: 130,499,199 (GRCm39) |
T760M |
probably damaging |
Het |
Rif1 |
A |
G |
2: 51,975,041 (GRCm39) |
I317V |
probably damaging |
Het |
Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
Slfn8 |
A |
T |
11: 82,894,337 (GRCm39) |
H767Q |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,184,114 (GRCm39) |
G114D |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Tenm3 |
A |
T |
8: 48,681,577 (GRCm39) |
D2684E |
probably damaging |
Het |
Tet2 |
T |
C |
3: 133,182,362 (GRCm39) |
T1201A |
possibly damaging |
Het |
Vax2 |
T |
C |
6: 83,714,759 (GRCm39) |
S225P |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,833,196 (GRCm39) |
|
probably null |
Het |
Washc5 |
T |
A |
15: 59,241,035 (GRCm39) |
Q100L |
probably benign |
Het |
Washc5 |
G |
T |
15: 59,241,036 (GRCm39) |
Q100K |
probably benign |
Het |
Zc3h13 |
A |
G |
14: 75,567,989 (GRCm39) |
D1094G |
probably damaging |
Het |
Zmiz1 |
A |
G |
14: 25,663,404 (GRCm39) |
Y1051C |
unknown |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTAGTCTCCCACGTAGCAGGAA -3'
(R):5'- ACAATGGACGACCTATGCTCAGTCA -3'
Sequencing Primer
(F):5'- TAGCAGGAAGACTTCTGTAAGCAC -3'
(R):5'- GACGACCTATGCTCAGTCAAATTAG -3'
|
Posted On |
2014-01-05 |