Incidental Mutation 'R6043:Zswim5'
| ID |
483657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim5
|
| Ensembl Gene |
ENSMUSG00000033948 |
| Gene Name |
zinc finger SWIM-type containing 5 |
| Synonyms |
4933426E21Rik |
| MMRRC Submission |
044211-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6043 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
116734573-116846461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 116819818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 408
(S408R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044823]
|
| AlphaFold |
Q80TC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044823
AA Change: S408R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
AA Change: S408R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
995 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts4 |
T |
C |
1: 171,080,170 (GRCm39) |
F44S |
probably damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,613,501 (GRCm39) |
T667S |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,819,937 (GRCm39) |
Y1516C |
probably benign |
Het |
| Ccl17 |
A |
G |
8: 95,537,100 (GRCm39) |
M1V |
probably null |
Het |
| Cfhr1 |
T |
A |
1: 139,478,606 (GRCm39) |
T255S |
probably benign |
Het |
| Clcn6 |
T |
C |
4: 148,093,245 (GRCm39) |
N812D |
probably damaging |
Het |
| Cyp2b10 |
T |
C |
7: 25,616,764 (GRCm39) |
F402L |
probably damaging |
Het |
| Dgkz |
A |
C |
2: 91,766,234 (GRCm39) |
S776A |
probably benign |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,122 (GRCm39) |
L313Q |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,878,924 (GRCm39) |
G2728S |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,178,949 (GRCm39) |
M874K |
probably benign |
Het |
| Eef1akmt3 |
A |
T |
10: 126,869,147 (GRCm39) |
L109Q |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,530,434 (GRCm39) |
S243P |
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,974,607 (GRCm39) |
I304M |
possibly damaging |
Het |
| Fcgr4 |
T |
C |
1: 170,847,699 (GRCm39) |
V99A |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,356,193 (GRCm39) |
E417G |
probably damaging |
Het |
| Flnc |
G |
T |
6: 29,446,607 (GRCm39) |
G939V |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,315,436 (GRCm39) |
M1173V |
probably benign |
Het |
| Hspa2 |
C |
T |
12: 76,453,096 (GRCm39) |
H597Y |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,870,212 (GRCm39) |
T64I |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,553,820 (GRCm39) |
S993P |
probably damaging |
Het |
| Kitl |
T |
A |
10: 99,899,947 (GRCm39) |
V84E |
probably damaging |
Het |
| Klra17 |
A |
G |
6: 129,849,150 (GRCm39) |
|
probably null |
Het |
| Map2k3 |
A |
G |
11: 60,837,572 (GRCm39) |
D224G |
probably benign |
Het |
| Medag |
T |
G |
5: 149,345,672 (GRCm39) |
F4V |
probably benign |
Het |
| Mob3b |
C |
T |
4: 34,985,993 (GRCm39) |
V182I |
probably benign |
Het |
| Mvb12b |
G |
T |
2: 33,764,402 (GRCm39) |
T49K |
probably damaging |
Het |
| Naaladl2 |
A |
G |
3: 24,112,378 (GRCm39) |
V568A |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,693,896 (GRCm39) |
E2174G |
probably benign |
Het |
| Nmd3 |
T |
C |
3: 69,652,580 (GRCm39) |
Y389H |
probably benign |
Het |
| Or13g1 |
A |
G |
7: 85,955,547 (GRCm39) |
I258T |
probably damaging |
Het |
| Or4p19 |
C |
T |
2: 88,242,589 (GRCm39) |
E138K |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,057,037 (GRCm39) |
D880G |
probably damaging |
Het |
| Pcdh1 |
T |
A |
18: 38,336,327 (GRCm39) |
N103Y |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,781,815 (GRCm39) |
D1905G |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,667 (GRCm39) |
F619S |
probably damaging |
Het |
| Ptdss1 |
T |
A |
13: 67,111,433 (GRCm39) |
D166E |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,332,927 (GRCm39) |
V2713A |
probably damaging |
Het |
| Sema4f |
T |
C |
6: 82,896,634 (GRCm39) |
N200D |
probably damaging |
Het |
| Tjp1 |
A |
T |
7: 64,973,837 (GRCm39) |
N472K |
probably damaging |
Het |
| Trav6n-5 |
T |
C |
14: 53,342,608 (GRCm39) |
Y49H |
probably benign |
Het |
| Trbv2 |
A |
G |
6: 41,024,904 (GRCm39) |
T107A |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,643,933 (GRCm39) |
N1177S |
possibly damaging |
Het |
| Vmn1r212 |
A |
G |
13: 23,068,258 (GRCm39) |
V25A |
probably damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,468,487 (GRCm39) |
S2882A |
probably benign |
Het |
|
| Other mutations in Zswim5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00753:Zswim5
|
APN |
4 |
116,842,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01700:Zswim5
|
APN |
4 |
116,843,658 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01975:Zswim5
|
APN |
4 |
116,822,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02334:Zswim5
|
APN |
4 |
116,843,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02505:Zswim5
|
APN |
4 |
116,819,749 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02712:Zswim5
|
APN |
4 |
116,842,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4243001:Zswim5
|
UTSW |
4 |
116,841,975 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0324:Zswim5
|
UTSW |
4 |
116,844,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Zswim5
|
UTSW |
4 |
116,843,874 (GRCm39) |
splice site |
probably null |
|
|
R0730:Zswim5
|
UTSW |
4 |
116,842,943 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1663:Zswim5
|
UTSW |
4 |
116,844,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Zswim5
|
UTSW |
4 |
116,734,896 (GRCm39) |
missense |
unknown |
|
|
R2070:Zswim5
|
UTSW |
4 |
116,837,109 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2176:Zswim5
|
UTSW |
4 |
116,830,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3715:Zswim5
|
UTSW |
4 |
116,819,755 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4044:Zswim5
|
UTSW |
4 |
116,843,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4063:Zswim5
|
UTSW |
4 |
116,735,177 (GRCm39) |
missense |
unknown |
|
|
R4118:Zswim5
|
UTSW |
4 |
116,844,016 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4612:Zswim5
|
UTSW |
4 |
116,843,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Zswim5
|
UTSW |
4 |
116,830,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4799:Zswim5
|
UTSW |
4 |
116,830,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4983:Zswim5
|
UTSW |
4 |
116,842,883 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5294:Zswim5
|
UTSW |
4 |
116,836,774 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5836:Zswim5
|
UTSW |
4 |
116,842,000 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6025:Zswim5
|
UTSW |
4 |
116,808,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Zswim5
|
UTSW |
4 |
116,819,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6042:Zswim5
|
UTSW |
4 |
116,819,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6159:Zswim5
|
UTSW |
4 |
116,836,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Zswim5
|
UTSW |
4 |
116,735,204 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6415:Zswim5
|
UTSW |
4 |
116,838,063 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6442:Zswim5
|
UTSW |
4 |
116,808,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Zswim5
|
UTSW |
4 |
116,844,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6616:Zswim5
|
UTSW |
4 |
116,843,938 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6745:Zswim5
|
UTSW |
4 |
116,832,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Zswim5
|
UTSW |
4 |
116,833,173 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7260:Zswim5
|
UTSW |
4 |
116,819,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Zswim5
|
UTSW |
4 |
116,833,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Zswim5
|
UTSW |
4 |
116,841,885 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7326:Zswim5
|
UTSW |
4 |
116,838,031 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7429:Zswim5
|
UTSW |
4 |
116,833,054 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7430:Zswim5
|
UTSW |
4 |
116,833,054 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7607:Zswim5
|
UTSW |
4 |
116,843,939 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7811:Zswim5
|
UTSW |
4 |
116,734,673 (GRCm39) |
missense |
unknown |
|
|
R7993:Zswim5
|
UTSW |
4 |
116,808,291 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8221:Zswim5
|
UTSW |
4 |
116,735,219 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8341:Zswim5
|
UTSW |
4 |
116,843,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8433:Zswim5
|
UTSW |
4 |
116,844,007 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8690:Zswim5
|
UTSW |
4 |
116,842,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8766:Zswim5
|
UTSW |
4 |
116,816,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8808:Zswim5
|
UTSW |
4 |
116,822,887 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9175:Zswim5
|
UTSW |
4 |
116,822,941 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9354:Zswim5
|
UTSW |
4 |
116,844,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9639:Zswim5
|
UTSW |
4 |
116,836,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACTATGCAAGCACATCATCTCC -3'
(R):5'- AAGGCTCACTGCTGCAGAAG -3'
Sequencing Primer
(F):5'- AGCACATCATCTCCTCAATCTG -3'
(R):5'- GCAATGAAGTGAGATTAGGAAACTTC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation