Incidental Mutation 'R4044:Zswim5'
ID |
313976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim5
|
Ensembl Gene |
ENSMUSG00000033948 |
Gene Name |
zinc finger SWIM-type containing 5 |
Synonyms |
4933426E21Rik |
MMRRC Submission |
040967-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4044 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116734573-116846461 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116843899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 979
(D979G)
|
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: D979G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049474 Gene: ENSMUSG00000033948 AA Change: D979G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150370
|
Meta Mutation Damage Score |
0.3203 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
T |
A |
9: 89,044,347 (GRCm39) |
|
noncoding transcript |
Het |
Ada |
A |
T |
2: 163,577,380 (GRCm39) |
I36N |
probably damaging |
Het |
Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
Atg7 |
T |
C |
6: 114,678,939 (GRCm39) |
V384A |
probably benign |
Het |
Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
Cep70 |
T |
A |
9: 99,144,662 (GRCm39) |
C66S |
possibly damaging |
Het |
D16Ertd472e |
A |
T |
16: 78,372,894 (GRCm39) |
D14E |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 66,024,461 (GRCm39) |
K278E |
probably benign |
Het |
Dsg1a |
C |
A |
18: 20,457,087 (GRCm39) |
N153K |
probably damaging |
Het |
Galnt5 |
T |
A |
2: 57,888,472 (GRCm39) |
I24N |
probably damaging |
Het |
Grid1 |
A |
T |
14: 35,172,358 (GRCm39) |
|
probably benign |
Het |
Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,839,810 (GRCm39) |
T706A |
possibly damaging |
Het |
Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
Jam3 |
C |
A |
9: 27,013,159 (GRCm39) |
|
probably null |
Het |
Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
Klk1b4 |
A |
G |
7: 43,860,179 (GRCm39) |
M98V |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
Ksr2 |
C |
T |
5: 117,693,127 (GRCm39) |
R192* |
probably null |
Het |
L3mbtl4 |
T |
C |
17: 69,084,909 (GRCm39) |
S607P |
possibly damaging |
Het |
Map6 |
T |
C |
7: 98,917,256 (GRCm39) |
C10R |
probably damaging |
Het |
Myo3a |
A |
G |
2: 22,467,712 (GRCm39) |
E322G |
probably damaging |
Het |
Nell1 |
A |
G |
7: 49,869,367 (GRCm39) |
N214S |
probably damaging |
Het |
Npm3 |
T |
C |
19: 45,736,692 (GRCm39) |
E149G |
possibly damaging |
Het |
Or4k35 |
C |
T |
2: 111,099,927 (GRCm39) |
V262I |
probably benign |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Orc3 |
G |
A |
4: 34,587,055 (GRCm39) |
Q345* |
probably null |
Het |
Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
Pals1 |
G |
A |
12: 78,871,613 (GRCm39) |
E398K |
probably benign |
Het |
Pramel26 |
T |
A |
4: 143,538,170 (GRCm39) |
N267I |
probably benign |
Het |
Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
Reln |
A |
T |
5: 22,333,630 (GRCm39) |
V264D |
possibly damaging |
Het |
Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
Scaf1 |
G |
A |
7: 44,655,798 (GRCm39) |
|
probably benign |
Het |
Sncaip |
A |
G |
18: 53,040,475 (GRCm39) |
T890A |
probably benign |
Het |
Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
Thada |
A |
G |
17: 84,749,135 (GRCm39) |
V612A |
probably benign |
Het |
Tsnaxip1 |
G |
A |
8: 106,560,177 (GRCm39) |
|
probably null |
Het |
Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
Vrtn |
T |
C |
12: 84,695,844 (GRCm39) |
I198T |
probably damaging |
Het |
Wnt9b |
T |
C |
11: 103,622,824 (GRCm39) |
D193G |
probably damaging |
Het |
Znrd2 |
T |
C |
19: 5,780,431 (GRCm39) |
E189G |
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 |
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 |
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'- AGAGCTGGTACACACTCTTCAC -3'
(R):5'- ACATCATTGATGGCTGGATGGG -3'
Sequencing Primer
(F):5'- CCCGACTGAGGCTACAAGTATTG -3'
(R):5'- ATGGCTGGATGGGTGTCC -3'
|
Posted On |
2015-04-30 |