Incidental Mutation 'R9354:Zswim5'
| ID |
708253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim5
|
| Ensembl Gene |
ENSMUSG00000033948 |
| Gene Name |
zinc finger SWIM-type containing 5 |
| Synonyms |
4933426E21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9354 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
116734573-116846461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116844232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 1090
(G1090D)
|
| 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: G1090D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
AA Change: G1090D
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,436,873 (GRCm39) |
Q181R |
unknown |
Het |
| Acsl1 |
T |
G |
8: 46,966,753 (GRCm39) |
C242G |
probably benign |
Het |
| Agap2 |
A |
C |
10: 126,923,104 (GRCm39) |
N646T |
unknown |
Het |
| Ankrd44 |
A |
T |
1: 54,687,438 (GRCm39) |
*994R |
probably null |
Het |
| Apol7c |
C |
T |
15: 77,410,112 (GRCm39) |
R278H |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,921,401 (GRCm39) |
E2166G |
probably benign |
Het |
| Caskin2 |
G |
A |
11: 115,693,468 (GRCm39) |
T528M |
probably damaging |
Het |
| Ccdc30 |
G |
T |
4: 119,230,850 (GRCm39) |
P15Q |
possibly damaging |
Het |
| Cemip2 |
A |
G |
19: 21,779,389 (GRCm39) |
S400G |
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,379,114 (GRCm39) |
T45I |
|
Het |
| Cep68 |
T |
C |
11: 20,188,569 (GRCm39) |
E612G |
probably damaging |
Het |
| Chpf2 |
T |
C |
5: 24,796,392 (GRCm39) |
L446P |
probably damaging |
Het |
| Ctsl |
A |
T |
13: 64,516,850 (GRCm39) |
Y40N |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,221,922 (GRCm39) |
N496S |
probably benign |
Het |
| Espnl |
A |
T |
1: 91,272,323 (GRCm39) |
D561V |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,818,411 (GRCm38) |
L87Q |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,232,825 (GRCm39) |
I276F |
possibly damaging |
Het |
| Gid4 |
G |
T |
11: 60,308,618 (GRCm39) |
R46L |
probably benign |
Het |
| Gper1 |
G |
A |
5: 139,412,029 (GRCm39) |
D125N |
possibly damaging |
Het |
| Gpr146 |
A |
G |
5: 139,378,366 (GRCm39) |
N56S |
probably benign |
Het |
| Grhpr |
G |
T |
4: 44,981,465 (GRCm39) |
R5L |
probably benign |
Het |
| Gstm6 |
A |
T |
3: 107,850,018 (GRCm39) |
N59K |
probably damaging |
Het |
| Hdac7 |
A |
T |
15: 97,694,769 (GRCm39) |
F802L |
probably damaging |
Het |
| Igfbpl1 |
A |
T |
4: 45,816,348 (GRCm39) |
V159D |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,237,668 (GRCm39) |
S351G |
possibly damaging |
Het |
| Itgad |
C |
A |
7: 127,785,146 (GRCm39) |
H354Q |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,059,875 (GRCm39) |
S641P |
probably damaging |
Het |
| Klhl33 |
T |
C |
14: 51,130,385 (GRCm39) |
T110A |
probably benign |
Het |
| Lcorl |
T |
A |
5: 45,890,968 (GRCm39) |
K545* |
probably null |
Het |
| Lilra6 |
A |
G |
7: 3,914,628 (GRCm39) |
S546P |
probably damaging |
Het |
| Ly6c1 |
T |
A |
15: 74,916,471 (GRCm39) |
I124F |
probably benign |
Het |
| Map4 |
A |
G |
9: 109,897,847 (GRCm39) |
T858A |
probably benign |
Het |
| Marchf5 |
G |
T |
19: 37,185,264 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,307,157 (GRCm39) |
K769E |
|
Het |
| Myh6 |
T |
A |
14: 55,200,992 (GRCm39) |
I157F |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,563,994 (GRCm39) |
V389A |
probably benign |
Het |
| Or52b3 |
G |
A |
7: 102,204,397 (GRCm39) |
R302H |
possibly damaging |
Het |
| Pcdhgc4 |
A |
G |
18: 37,949,640 (GRCm39) |
H352R |
probably benign |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pick1 |
T |
C |
15: 79,123,848 (GRCm39) |
V73A |
probably damaging |
Het |
| Ppwd1 |
C |
T |
13: 104,342,080 (GRCm39) |
V625I |
probably benign |
Het |
| Prss59 |
A |
G |
6: 40,905,473 (GRCm39) |
V61A |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,099,986 (GRCm39) |
E1830G |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,279,313 (GRCm39) |
N445S |
possibly damaging |
Het |
| Rapgef6 |
G |
T |
11: 54,510,749 (GRCm39) |
R222L |
possibly damaging |
Het |
| Rorc |
A |
T |
3: 94,280,170 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
A |
C |
4: 133,594,432 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,725,757 (GRCm39) |
Y1164C |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,902 (GRCm39) |
Y304* |
probably null |
Het |
| Slc26a4 |
A |
T |
12: 31,585,255 (GRCm39) |
V513D |
possibly damaging |
Het |
| Slf2 |
T |
A |
19: 44,936,471 (GRCm39) |
D705E |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,934,905 (GRCm39) |
T704A |
probably benign |
Het |
| Tex15 |
C |
G |
8: 34,063,344 (GRCm39) |
Q925E |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,969,875 (GRCm39) |
T145S |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,425,696 (GRCm39) |
C17Y |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,701,027 (GRCm39) |
Y999H |
probably benign |
Het |
| Vat1 |
A |
C |
11: 101,351,441 (GRCm39) |
M300R |
probably benign |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,725 (GRCm39) |
I140F |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,049,663 (GRCm39) |
I695M |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,942,660 (GRCm39) |
R789Q |
unknown |
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 |
|
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 |
|
R9639:Zswim5
|
UTSW |
4 |
116,836,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGAGCCATCTTAACCTGG -3'
(R):5'- ATTGCAAGTGACCATCCTGGG -3'
Sequencing Primer
(F):5'- ATCTTAACCTGGCCTACAACC -3'
(R):5'- AGGTCTCACGAGCTTTGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation