Incidental Mutation 'R8766:Zswim5'
ID |
667873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim5
|
Ensembl Gene |
ENSMUSG00000033948 |
Gene Name |
zinc finger SWIM-type containing 5 |
Synonyms |
4933426E21Rik |
MMRRC Submission |
068600-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8766 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116734573-116846461 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116816004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 364
(L364P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044823]
|
AlphaFold |
Q80TC6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044823
AA Change: L364P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049474 Gene: ENSMUSG00000033948 AA Change: L364P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr10 |
T |
G |
12: 71,001,430 (GRCm39) |
|
probably null |
Het |
Amz1 |
A |
G |
5: 140,733,921 (GRCm39) |
N166D |
probably benign |
Het |
Armh4 |
T |
A |
14: 50,011,497 (GRCm39) |
N70I |
probably damaging |
Het |
Asah2 |
A |
G |
19: 32,035,280 (GRCm39) |
F15S |
possibly damaging |
Het |
Axin2 |
A |
G |
11: 108,814,657 (GRCm39) |
M182V |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,002,881 (GRCm39) |
L326P |
probably damaging |
Het |
Ccdc169 |
T |
C |
3: 55,058,245 (GRCm39) |
|
probably null |
Het |
Cct8 |
A |
T |
16: 87,285,756 (GRCm39) |
V234D |
probably damaging |
Het |
Cdh19 |
T |
C |
1: 110,817,844 (GRCm39) |
R633G |
probably benign |
Het |
Clca3a1 |
A |
T |
3: 144,714,939 (GRCm39) |
|
probably benign |
Het |
Crat |
G |
A |
2: 30,297,075 (GRCm39) |
P293S |
probably benign |
Het |
Crybg3 |
G |
A |
16: 59,375,696 (GRCm39) |
R139C |
probably benign |
Het |
Ctbs |
A |
G |
3: 146,165,588 (GRCm39) |
N301S |
possibly damaging |
Het |
Cyp4x1 |
T |
C |
4: 114,967,262 (GRCm39) |
H438R |
probably damaging |
Het |
Dglucy |
C |
A |
12: 100,837,706 (GRCm39) |
H616Q |
probably benign |
Het |
Dync1i1 |
T |
A |
6: 5,767,142 (GRCm39) |
L74Q |
possibly damaging |
Het |
Epn1 |
T |
C |
7: 5,095,860 (GRCm39) |
S167P |
possibly damaging |
Het |
Fbxw28 |
T |
C |
9: 109,155,749 (GRCm39) |
E341G |
probably benign |
Het |
Gk2 |
T |
A |
5: 97,604,110 (GRCm39) |
M243L |
probably benign |
Het |
Grhl3 |
T |
A |
4: 135,300,724 (GRCm39) |
E4D |
probably benign |
Het |
Hsd17b13 |
T |
C |
5: 104,125,009 (GRCm39) |
K58R |
probably benign |
Het |
Ighd5-7 |
G |
A |
12: 113,428,148 (GRCm39) |
Q9* |
probably null |
Het |
Izumo1 |
G |
A |
7: 45,276,496 (GRCm39) |
S353N |
probably benign |
Het |
Klhl31 |
T |
C |
9: 77,557,445 (GRCm39) |
S54P |
possibly damaging |
Het |
Lonp2 |
T |
C |
8: 87,363,198 (GRCm39) |
M272T |
probably benign |
Het |
Ltbp1 |
T |
A |
17: 75,603,250 (GRCm39) |
C682* |
probably null |
Het |
Magi2 |
A |
G |
5: 20,400,123 (GRCm39) |
K52E |
probably benign |
Het |
Nab2 |
C |
T |
10: 127,502,417 (GRCm39) |
|
probably benign |
Het |
Ncapg2 |
T |
A |
12: 116,390,356 (GRCm39) |
V435D |
probably damaging |
Het |
Nid2 |
A |
G |
14: 19,802,340 (GRCm39) |
D87G |
probably benign |
Het |
Or10a3 |
A |
G |
7: 108,480,453 (GRCm39) |
M120T |
probably benign |
Het |
Or9a7 |
T |
C |
6: 40,521,485 (GRCm39) |
M143V |
probably benign |
Het |
Pamr1 |
T |
C |
2: 102,380,538 (GRCm39) |
M1T |
probably null |
Het |
Pard3b |
T |
C |
1: 62,198,637 (GRCm39) |
C242R |
probably benign |
Het |
Pcif1 |
T |
A |
2: 164,727,346 (GRCm39) |
V106E |
probably benign |
Het |
Pitx2 |
T |
A |
3: 129,012,223 (GRCm39) |
F218I |
probably damaging |
Het |
Ppip5k1 |
G |
T |
2: 121,166,919 (GRCm39) |
Y877* |
probably null |
Het |
Prkch |
A |
G |
12: 73,749,312 (GRCm39) |
N354S |
probably benign |
Het |
Psen2 |
T |
A |
1: 180,073,201 (GRCm39) |
D40V |
probably benign |
Het |
Rfx7 |
T |
A |
9: 72,524,021 (GRCm39) |
S404T |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,683,855 (GRCm39) |
T3070S |
probably damaging |
Het |
Slc24a4 |
A |
G |
12: 102,196,711 (GRCm39) |
D263G |
probably benign |
Het |
Tox |
T |
C |
4: 6,823,047 (GRCm39) |
E90G |
probably damaging |
Het |
Unc13b |
C |
T |
4: 43,174,722 (GRCm39) |
S1850L |
unknown |
Het |
Vmn1r5 |
T |
A |
6: 56,963,100 (GRCm39) |
D258E |
possibly damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,222,241 (GRCm39) |
V660M |
probably damaging |
Het |
Yju2b |
C |
T |
8: 84,988,423 (GRCm39) |
R68H |
probably damaging |
Het |
Zfp592 |
A |
T |
7: 80,674,353 (GRCm39) |
H439L |
probably benign |
Het |
Zfp775 |
A |
T |
6: 48,597,113 (GRCm39) |
H329L |
probably damaging |
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 |
R6043: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 |
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'- AGTGGCAAAGCACTGACTATC -3'
(R):5'- TGTAGTGCACACAGTTCATCTATC -3'
Sequencing Primer
(F):5'- AGCACTGACTATCTACATCTATGTGC -3'
(R):5'- GTGCACACAGTTCATCTATCATTTGG -3'
|
Posted On |
2021-03-08 |