Incidental Mutation 'R8341:Zswim5'
ID |
644883 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim5
|
Ensembl Gene |
ENSMUSG00000033948 |
Gene Name |
zinc finger SWIM-type containing 5 |
Synonyms |
4933426E21Rik |
MMRRC Submission |
067865-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8341 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116734573-116846461 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116843989 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1009
(Y1009C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030446]
[ENSMUST00000044823]
[ENSMUST00000130273]
|
AlphaFold |
Q80TC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030446
|
SMART Domains |
Protein: ENSMUSP00000030446 Gene: ENSMUSG00000028684
Domain | Start | End | E-Value | Type |
Pfam:URO-D
|
14 |
360 |
2.4e-135 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044823
AA Change: Y1009C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049474 Gene: ENSMUSG00000033948 AA Change: Y1009C
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130273
|
SMART Domains |
Protein: ENSMUSP00000116154 Gene: ENSMUSG00000028684
Domain | Start | End | E-Value | Type |
Pfam:URO-D
|
1 |
64 |
1.2e-18 |
PFAM |
Pfam:URO-D
|
60 |
120 |
4e-12 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,845,876 (GRCm39) |
I915F |
probably damaging |
Het |
Adam11 |
C |
A |
11: 102,667,362 (GRCm39) |
H641N |
probably damaging |
Het |
Amfr |
A |
G |
8: 94,725,806 (GRCm39) |
S192P |
probably damaging |
Het |
Ano9 |
T |
A |
7: 140,682,247 (GRCm39) |
N676I |
possibly damaging |
Het |
Arfgef1 |
C |
T |
1: 10,224,553 (GRCm39) |
V1428I |
probably benign |
Het |
B3gnt9 |
C |
T |
8: 105,980,497 (GRCm39) |
R297H |
probably benign |
Het |
Bace2 |
C |
T |
16: 97,158,108 (GRCm39) |
A36V |
possibly damaging |
Het |
C1s1 |
C |
T |
6: 124,508,115 (GRCm39) |
A625T |
probably damaging |
Het |
Camkmt |
T |
C |
17: 85,747,008 (GRCm39) |
L251P |
probably damaging |
Het |
Ceacam15 |
C |
A |
7: 16,405,928 (GRCm39) |
V208F |
probably benign |
Het |
Clp1 |
T |
C |
2: 84,554,117 (GRCm39) |
K351E |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,561,547 (GRCm39) |
Y1343C |
|
Het |
Cubn |
C |
A |
2: 13,433,535 (GRCm39) |
G1125V |
probably damaging |
Het |
Dpp4 |
C |
T |
2: 62,178,234 (GRCm39) |
V633I |
probably benign |
Het |
Eif2ak1 |
A |
T |
5: 143,821,755 (GRCm39) |
D357V |
probably benign |
Het |
Fez1 |
T |
C |
9: 36,787,605 (GRCm39) |
M370T |
possibly damaging |
Het |
Frk |
G |
A |
10: 34,462,279 (GRCm39) |
E257K |
probably damaging |
Het |
Gm7579 |
T |
A |
7: 141,765,856 (GRCm39) |
C87* |
probably null |
Het |
Henmt1 |
T |
C |
3: 108,865,908 (GRCm39) |
V211A |
probably damaging |
Het |
Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
Ints9 |
T |
A |
14: 65,273,863 (GRCm39) |
V556E |
probably benign |
Het |
Itprid2 |
A |
T |
2: 79,488,062 (GRCm39) |
K715I |
probably damaging |
Het |
Klhl41 |
T |
C |
2: 69,500,868 (GRCm39) |
S110P |
probably benign |
Het |
Klrk1 |
T |
C |
6: 129,599,663 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
A |
T |
5: 23,704,451 (GRCm39) |
S1215C |
probably damaging |
Het |
Lyn |
T |
C |
4: 3,743,304 (GRCm39) |
|
probably null |
Het |
Map2k5 |
T |
A |
9: 63,246,380 (GRCm39) |
N116Y |
probably damaging |
Het |
Map3k13 |
G |
T |
16: 21,740,334 (GRCm39) |
E554* |
probably null |
Het |
Map6 |
A |
G |
7: 98,917,647 (GRCm39) |
E140G |
possibly damaging |
Het |
Mpv17 |
A |
C |
5: 31,311,447 (GRCm39) |
|
probably null |
Het |
Myo1c |
C |
T |
11: 75,562,253 (GRCm39) |
P883S |
probably benign |
Het |
Myo7b |
T |
C |
18: 32,116,979 (GRCm39) |
M914V |
probably benign |
Het |
Olfm2 |
C |
T |
9: 20,583,918 (GRCm39) |
|
probably null |
Het |
Or2b4 |
G |
A |
17: 38,116,543 (GRCm39) |
C169Y |
probably damaging |
Het |
Osbpl7 |
T |
G |
11: 96,950,989 (GRCm39) |
L612R |
probably damaging |
Het |
Polq |
A |
T |
16: 36,892,133 (GRCm39) |
M2012L |
possibly damaging |
Het |
Ppp1r7 |
G |
A |
1: 93,274,000 (GRCm39) |
D59N |
probably benign |
Het |
Ppp4r3c2 |
A |
T |
X: 88,798,322 (GRCm39) |
K718M |
probably damaging |
Het |
Ptbp1 |
A |
C |
10: 79,699,045 (GRCm39) |
E534D |
probably benign |
Het |
Qser1 |
A |
G |
2: 104,619,820 (GRCm39) |
Y241H |
probably damaging |
Het |
Rbx1 |
T |
C |
15: 81,358,078 (GRCm39) |
L88P |
probably damaging |
Het |
Rft1 |
T |
C |
14: 30,411,838 (GRCm39) |
L462P |
probably damaging |
Het |
Serpinb9f |
T |
A |
13: 33,511,290 (GRCm39) |
L77* |
probably null |
Het |
Shisa9 |
T |
C |
16: 11,815,015 (GRCm39) |
M221T |
possibly damaging |
Het |
Slc12a2 |
T |
G |
18: 58,012,281 (GRCm39) |
F135V |
possibly damaging |
Het |
Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
Slc44a2 |
T |
C |
9: 21,253,495 (GRCm39) |
F88L |
probably benign |
Het |
Snx21 |
A |
G |
2: 164,633,805 (GRCm39) |
E197G |
probably damaging |
Het |
Srarp |
T |
C |
4: 141,160,707 (GRCm39) |
D42G |
possibly damaging |
Het |
St6galnac1 |
T |
A |
11: 116,659,714 (GRCm39) |
M200L |
probably benign |
Het |
Stambpl1 |
A |
T |
19: 34,211,401 (GRCm39) |
Q154L |
probably benign |
Het |
Szt2 |
G |
T |
4: 118,250,033 (GRCm39) |
R492S |
possibly damaging |
Het |
Thbs3 |
G |
A |
3: 89,132,698 (GRCm39) |
R880Q |
probably benign |
Het |
Tnks |
A |
T |
8: 35,340,199 (GRCm39) |
L473H |
probably damaging |
Het |
Ttc4 |
A |
G |
4: 106,522,893 (GRCm39) |
S342P |
probably benign |
Het |
Uckl1 |
T |
A |
2: 181,211,512 (GRCm39) |
M463L |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,688,192 (GRCm39) |
S2397P |
possibly damaging |
Het |
Vmn2r73 |
T |
A |
7: 85,507,128 (GRCm39) |
H728L |
probably benign |
Het |
Vsig10l |
T |
C |
7: 43,113,378 (GRCm39) |
V110A |
probably damaging |
Het |
Zgrf1 |
T |
A |
3: 127,354,564 (GRCm39) |
L61* |
probably null |
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 |
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'- TCAGCCTTGACTACCCACAG -3'
(R):5'- CGCAGGATATCAGAAAGCACTG -3'
Sequencing Primer
(F):5'- AGGAACTGGCTAGCTGTGCTC -3'
(R):5'- TATCAGAAAGCACTGTGGCAC -3'
|
Posted On |
2020-09-02 |