Incidental Mutation 'R6745:Zswim5'
| ID |
530523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim5
|
| Ensembl Gene |
ENSMUSG00000033948 |
| Gene Name |
zinc finger SWIM-type containing 5 |
| Synonyms |
4933426E21Rik |
| MMRRC Submission |
044862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6745 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116734573-116846461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 116832401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Alanine
at position 543
(P543A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044823]
|
| AlphaFold |
Q80TC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044823
AA Change: P543A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
AA Change: P543A
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
G |
T |
10: 10,265,941 (GRCm39) |
T1040K |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,408,601 (GRCm39) |
V59A |
probably benign |
Het |
| Ankk1 |
G |
T |
9: 49,327,480 (GRCm39) |
H566Q |
probably benign |
Het |
| Avil |
A |
C |
10: 126,849,988 (GRCm39) |
D613A |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,582,132 (GRCm39) |
N613S |
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,607,429 (GRCm39) |
T326A |
probably benign |
Het |
| Clasp2 |
A |
T |
9: 113,704,338 (GRCm39) |
R558* |
probably null |
Het |
| Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
A |
T |
6: 53,581,517 (GRCm39) |
M172L |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,372,607 (GRCm39) |
V2291A |
possibly damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,513,604 (GRCm39) |
V181G |
probably damaging |
Het |
| Dclk1 |
T |
A |
3: 55,385,229 (GRCm39) |
S40T |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,885,876 (GRCm39) |
M3053I |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,428,383 (GRCm39) |
I268K |
probably damaging |
Het |
| Dock2 |
C |
G |
11: 34,596,669 (GRCm39) |
D396H |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,596,670 (GRCm39) |
K395N |
probably damaging |
Het |
| Gpbp1 |
G |
A |
13: 111,589,919 (GRCm39) |
R59C |
probably benign |
Het |
| Ifi47 |
T |
G |
11: 48,986,329 (GRCm39) |
I32S |
probably benign |
Het |
| Ighg3 |
A |
G |
12: 113,323,890 (GRCm39) |
V166A |
unknown |
Het |
| Katnip |
T |
C |
7: 125,369,822 (GRCm39) |
S137P |
probably benign |
Het |
| Kdm5d |
T |
A |
Y: 927,112 (GRCm39) |
C617S |
probably benign |
Homo |
| Kif20b |
T |
G |
19: 34,906,276 (GRCm39) |
S55A |
possibly damaging |
Het |
| Klhl1 |
C |
T |
14: 96,517,438 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
C |
T |
7: 139,500,892 (GRCm39) |
T727I |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,922,749 (GRCm39) |
I298N |
probably damaging |
Het |
| Ly75 |
C |
A |
2: 60,138,523 (GRCm39) |
R1448L |
probably damaging |
Het |
| Mup4 |
C |
T |
4: 59,960,091 (GRCm39) |
V58M |
possibly damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,026,526 (GRCm39) |
F467S |
probably damaging |
Het |
| Or14j9 |
T |
A |
17: 37,874,470 (GRCm39) |
H244L |
probably damaging |
Het |
| Pla2g4a |
G |
T |
1: 149,761,981 (GRCm39) |
Q151K |
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 22,167,868 (GRCm39) |
Q713L |
probably benign |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,080 (GRCm39) |
S210T |
probably damaging |
Het |
| Prb1a |
T |
C |
6: 132,186,383 (GRCm39) |
|
probably null |
Het |
| Pyroxd2 |
T |
C |
19: 42,735,799 (GRCm39) |
D101G |
probably damaging |
Het |
| Ranbp3 |
A |
G |
17: 57,016,308 (GRCm39) |
D359G |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,698,063 (GRCm39) |
I531F |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,696,614 (GRCm39) |
N265S |
possibly damaging |
Het |
| Slc51b |
T |
C |
9: 65,320,212 (GRCm39) |
E85G |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,702,809 (GRCm39) |
R195W |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,280,022 (GRCm39) |
T819A |
possibly damaging |
Het |
| Ugt1a9 |
A |
T |
1: 87,998,898 (GRCm39) |
E116V |
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 |
|
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 |
|
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'- TTGTATATCCCATCACACTGAGGC -3'
(R):5'- TGAGACCCCAGGATGTTAGAGG -3'
Sequencing Primer
(F):5'- AGGAGCCCTTTCAAGATGGCTTC -3'
(R):5'- ACCCCAGGATGTTAGAGGATTCC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation