Incidental Mutation 'R6830:Zswim2'
| ID |
534330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim2
|
| Ensembl Gene |
ENSMUSG00000034552 |
| Gene Name |
zinc finger SWIM-type containing 2 |
| Synonyms |
4933437F18Rik, MEX, 1700025P14Rik |
| MMRRC Submission |
044940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6830 (G1)
|
| Quality Score |
222.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
83745423-83771572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83770028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 62
(H62L)
|
| 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: H62L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044913
Gene: ENSMUSG00000034552
AA Change: H62L
| 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 |
possibly damaging
Transcript: ENSMUST00000152829
AA Change: H62L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119439
Gene: ENSMUSG00000034552
AA Change: H62L
| 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 |
0.4344 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
C |
3: 146,356,716 (GRCm39) |
D64G |
possibly damaging |
Het |
| Amtn |
T |
C |
5: 88,525,956 (GRCm39) |
L40P |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,792,342 (GRCm39) |
R90G |
probably damaging |
Het |
| Arfgef3 |
A |
C |
10: 18,540,637 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
C |
T |
18: 22,658,445 (GRCm39) |
P2152S |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,512,381 (GRCm39) |
V494E |
probably damaging |
Het |
| Bik |
T |
A |
15: 83,428,409 (GRCm39) |
Y146N |
probably benign |
Het |
| C1qtnf7 |
A |
T |
5: 43,766,436 (GRCm39) |
I12F |
possibly damaging |
Het |
| Cacna1e |
A |
G |
1: 154,289,720 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
A |
G |
1: 44,095,890 (GRCm39) |
V1736A |
probably benign |
Het |
| Ccnj |
A |
G |
19: 40,833,636 (GRCm39) |
E231G |
probably damaging |
Het |
| Cd101 |
T |
C |
3: 100,901,012 (GRCm39) |
K1020R |
probably benign |
Het |
| Cdh6 |
C |
A |
15: 13,044,860 (GRCm39) |
V421L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,205,668 (GRCm39) |
S135P |
probably benign |
Het |
| Decr1 |
T |
C |
4: 15,924,355 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Dock9 |
G |
A |
14: 121,860,330 (GRCm39) |
P866L |
probably damaging |
Het |
| Epx |
A |
G |
11: 87,759,452 (GRCm39) |
F546L |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,035,966 (GRCm39) |
M3206K |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,952,332 (GRCm39) |
D179G |
probably benign |
Het |
| Gbgt1 |
A |
G |
2: 28,395,220 (GRCm39) |
D286G |
probably damaging |
Het |
| Gpn1 |
T |
A |
5: 31,664,832 (GRCm39) |
S285R |
probably benign |
Het |
| Htt |
T |
A |
5: 34,991,670 (GRCm39) |
Y1212N |
possibly damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,314,745 (GRCm39) |
K159R |
probably damaging |
Het |
| Ldb2 |
T |
A |
5: 44,699,199 (GRCm39) |
I80F |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,294,602 (GRCm39) |
N89K |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,769,775 (GRCm39) |
R173C |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,903,935 (GRCm39) |
F26L |
probably benign |
Het |
| Neil3 |
G |
T |
8: 54,052,514 (GRCm39) |
N361K |
probably benign |
Het |
| Nepro |
A |
G |
16: 44,551,720 (GRCm39) |
R193G |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,447 (GRCm39) |
I198N |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,731,113 (GRCm39) |
Q3205L |
unknown |
Het |
| Plekhm1 |
A |
T |
11: 103,267,715 (GRCm39) |
I752N |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,878,614 (GRCm39) |
T273A |
possibly damaging |
Het |
| Prep |
T |
A |
10: 44,973,597 (GRCm39) |
M235K |
probably benign |
Het |
| Ptprc |
A |
T |
1: 137,999,993 (GRCm39) |
|
probably null |
Het |
| Reg2 |
A |
G |
6: 78,384,625 (GRCm39) |
H119R |
possibly damaging |
Het |
| Rpe65 |
T |
C |
3: 159,319,805 (GRCm39) |
V225A |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,398,373 (GRCm39) |
D79G |
probably damaging |
Het |
| Slc25a23 |
G |
A |
17: 57,360,804 (GRCm39) |
R9* |
probably null |
Het |
| Snai3 |
A |
G |
8: 123,183,212 (GRCm39) |
L111P |
probably damaging |
Het |
| Stk38 |
A |
G |
17: 29,218,981 (GRCm39) |
|
probably null |
Het |
| Stk38l |
A |
T |
6: 146,668,269 (GRCm39) |
I115F |
possibly damaging |
Het |
| Tmco6 |
T |
A |
18: 36,871,406 (GRCm39) |
|
probably null |
Het |
| Tollip |
A |
T |
7: 141,452,451 (GRCm39) |
M1K |
probably null |
Het |
| Trim40 |
T |
C |
17: 37,199,742 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Ttc27 |
T |
A |
17: 75,163,550 (GRCm39) |
Y719* |
probably null |
Het |
| Ubald1 |
T |
C |
16: 4,697,584 (GRCm39) |
D6G |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,693,171 (GRCm39) |
S476R |
probably benign |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zbtb21 |
C |
T |
16: 97,753,161 (GRCm39) |
G402D |
probably damaging |
Het |
| Zfp84 |
A |
G |
7: 29,475,911 (GRCm39) |
Y201C |
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 |
|
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'- CAAGTGACCTAAGACACATGCTG -3'
(R):5'- ACCCAGTTTCCAATGTTAAGAGAG -3'
Sequencing Primer
(F):5'- TGACCTAAGACACATGCTGGTAAG -3'
(R):5'- GAGAGAATATTTTTCAGAAGGCCCTG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation