Incidental Mutation 'IGL00418:Zswim8'
ID |
5902 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zswim8
|
Ensembl Gene |
ENSMUSG00000021819 |
Gene Name |
zinc finger SWIM-type containing 8 |
Synonyms |
2310021P13Rik, 4832404P21Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
IGL00418
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
20757620-20773687 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20768543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1025
(T1025A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022358
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022358]
[ENSMUST00000223840]
[ENSMUST00000224751]
|
AlphaFold |
Q3UHH1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022358
AA Change: T1025A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022358 Gene: ENSMUSG00000021819 AA Change: T1025A
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
low complexity region
|
89 |
102 |
N/A |
INTRINSIC |
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
low complexity region
|
578 |
612 |
N/A |
INTRINSIC |
low complexity region
|
736 |
751 |
N/A |
INTRINSIC |
low complexity region
|
1000 |
1015 |
N/A |
INTRINSIC |
low complexity region
|
1120 |
1135 |
N/A |
INTRINSIC |
low complexity region
|
1176 |
1211 |
N/A |
INTRINSIC |
low complexity region
|
1259 |
1270 |
N/A |
INTRINSIC |
low complexity region
|
1343 |
1355 |
N/A |
INTRINSIC |
low complexity region
|
1470 |
1487 |
N/A |
INTRINSIC |
low complexity region
|
1491 |
1511 |
N/A |
INTRINSIC |
low complexity region
|
1527 |
1542 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223561
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223782
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223840
AA Change: T991A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224485
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224751
AA Change: T1018A
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225187
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225332
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225743
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225911
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700097O09Rik |
A |
G |
12: 55,095,748 (GRCm39) |
I238T |
probably damaging |
Het |
Akap4 |
T |
C |
X: 6,942,729 (GRCm39) |
V344A |
possibly damaging |
Het |
Apex2 |
T |
C |
X: 149,355,048 (GRCm39) |
K430E |
probably benign |
Het |
Aqp9 |
C |
T |
9: 71,040,013 (GRCm39) |
A90T |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,558,642 (GRCm39) |
|
probably benign |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Bspry |
G |
T |
4: 62,414,342 (GRCm39) |
D312Y |
probably benign |
Het |
Cdh16 |
G |
A |
8: 105,350,045 (GRCm39) |
R5W |
probably benign |
Het |
Ciz1 |
C |
T |
2: 32,262,400 (GRCm39) |
R461C |
probably damaging |
Het |
Cldn14 |
T |
A |
16: 93,716,189 (GRCm39) |
D219V |
probably benign |
Het |
Clpb |
A |
T |
7: 101,436,952 (GRCm39) |
T706S |
probably benign |
Het |
Cyp2d11 |
A |
T |
15: 82,276,669 (GRCm39) |
M90K |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,332,853 (GRCm39) |
I498F |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,385,892 (GRCm39) |
|
probably benign |
Het |
Dpyd |
T |
A |
3: 118,737,891 (GRCm39) |
F477L |
probably damaging |
Het |
Dscaml1 |
C |
A |
9: 45,581,498 (GRCm39) |
S439* |
probably null |
Het |
Faxc |
A |
G |
4: 21,958,490 (GRCm39) |
K216E |
possibly damaging |
Het |
Fmo1 |
C |
T |
1: 162,663,815 (GRCm39) |
R238Q |
probably damaging |
Het |
Gm14399 |
G |
A |
2: 174,973,315 (GRCm39) |
R147* |
probably null |
Het |
H2-Ab1 |
G |
A |
17: 34,486,549 (GRCm39) |
V203M |
probably damaging |
Het |
Heatr5b |
T |
C |
17: 79,060,570 (GRCm39) |
E2035G |
probably damaging |
Het |
Hip1 |
A |
G |
5: 135,455,200 (GRCm39) |
I786T |
probably damaging |
Het |
Homer1 |
T |
C |
13: 93,524,196 (GRCm39) |
|
probably benign |
Het |
Igkv9-120 |
A |
G |
6: 68,026,971 (GRCm39) |
D2G |
possibly damaging |
Het |
Irgm1 |
A |
T |
11: 48,756,832 (GRCm39) |
Y326* |
probably null |
Het |
Kctd19 |
A |
T |
8: 106,115,095 (GRCm39) |
|
probably null |
Het |
Large1 |
T |
C |
8: 73,550,469 (GRCm39) |
|
probably null |
Het |
Mzf1 |
G |
A |
7: 12,778,543 (GRCm39) |
A287V |
possibly damaging |
Het |
Nes |
A |
T |
3: 87,883,561 (GRCm39) |
K607* |
probably null |
Het |
Pars2 |
T |
A |
4: 106,511,247 (GRCm39) |
V307E |
probably damaging |
Het |
Pcsk5 |
T |
A |
19: 17,488,785 (GRCm39) |
I1012F |
possibly damaging |
Het |
Pole |
T |
C |
5: 110,451,431 (GRCm39) |
|
probably benign |
Het |
Rbm14 |
T |
C |
19: 4,852,576 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
T |
2: 65,594,866 (GRCm39) |
Q1905L |
probably benign |
Het |
Slc26a2 |
A |
G |
18: 61,331,812 (GRCm39) |
F540L |
probably benign |
Het |
Slco2a1 |
T |
C |
9: 102,956,640 (GRCm39) |
|
probably benign |
Het |
Tas2r106 |
T |
C |
6: 131,654,922 (GRCm39) |
|
probably null |
Het |
Tmem175 |
T |
A |
5: 108,793,732 (GRCm39) |
D287E |
probably benign |
Het |
Trappc12 |
T |
C |
12: 28,787,835 (GRCm39) |
K416R |
probably damaging |
Het |
Trim2 |
A |
G |
3: 84,115,596 (GRCm39) |
L86P |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,783,544 (GRCm39) |
N240K |
probably damaging |
Het |
Wdr90 |
A |
C |
17: 26,068,338 (GRCm39) |
I1330S |
probably damaging |
Het |
Wfdc6a |
A |
G |
2: 164,426,914 (GRCm39) |
|
probably null |
Het |
Zc3h12c |
C |
T |
9: 52,027,965 (GRCm39) |
V466M |
probably damaging |
Het |
|
Other mutations in Zswim8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00470:Zswim8
|
APN |
14 |
20,773,249 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00675:Zswim8
|
APN |
14 |
20,766,969 (GRCm39) |
unclassified |
probably benign |
|
IGL00896:Zswim8
|
APN |
14 |
20,766,069 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01343:Zswim8
|
APN |
14 |
20,763,409 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01736:Zswim8
|
APN |
14 |
20,764,780 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01961:Zswim8
|
APN |
14 |
20,762,402 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02331:Zswim8
|
APN |
14 |
20,773,325 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02485:Zswim8
|
APN |
14 |
20,761,955 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02662:Zswim8
|
APN |
14 |
20,763,142 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03001:Zswim8
|
APN |
14 |
20,764,459 (GRCm39) |
missense |
probably damaging |
1.00 |
pool
|
UTSW |
14 |
20,764,641 (GRCm39) |
splice site |
probably null |
|
R0123:Zswim8
|
UTSW |
14 |
20,766,558 (GRCm39) |
splice site |
probably benign |
|
R0362:Zswim8
|
UTSW |
14 |
20,772,013 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0402:Zswim8
|
UTSW |
14 |
20,760,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R0458:Zswim8
|
UTSW |
14 |
20,768,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R1087:Zswim8
|
UTSW |
14 |
20,767,933 (GRCm39) |
splice site |
probably null |
|
R1158:Zswim8
|
UTSW |
14 |
20,771,736 (GRCm39) |
splice site |
probably benign |
|
R1171:Zswim8
|
UTSW |
14 |
20,763,181 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1389:Zswim8
|
UTSW |
14 |
20,760,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R1773:Zswim8
|
UTSW |
14 |
20,761,598 (GRCm39) |
missense |
probably damaging |
0.96 |
R1780:Zswim8
|
UTSW |
14 |
20,766,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R1850:Zswim8
|
UTSW |
14 |
20,760,815 (GRCm39) |
nonsense |
probably null |
|
R2421:Zswim8
|
UTSW |
14 |
20,769,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R3826:Zswim8
|
UTSW |
14 |
20,761,157 (GRCm39) |
nonsense |
probably null |
|
R3965:Zswim8
|
UTSW |
14 |
20,763,141 (GRCm39) |
missense |
probably benign |
|
R4301:Zswim8
|
UTSW |
14 |
20,763,977 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4499:Zswim8
|
UTSW |
14 |
20,764,365 (GRCm39) |
missense |
probably benign |
0.05 |
R4633:Zswim8
|
UTSW |
14 |
20,768,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R4675:Zswim8
|
UTSW |
14 |
20,764,681 (GRCm39) |
missense |
probably benign |
|
R4958:Zswim8
|
UTSW |
14 |
20,763,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R5255:Zswim8
|
UTSW |
14 |
20,771,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Zswim8
|
UTSW |
14 |
20,768,939 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5341:Zswim8
|
UTSW |
14 |
20,766,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R5495:Zswim8
|
UTSW |
14 |
20,772,354 (GRCm39) |
missense |
probably damaging |
0.97 |
R5652:Zswim8
|
UTSW |
14 |
20,763,495 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6273:Zswim8
|
UTSW |
14 |
20,763,521 (GRCm39) |
missense |
probably benign |
0.06 |
R6281:Zswim8
|
UTSW |
14 |
20,764,708 (GRCm39) |
missense |
probably benign |
0.02 |
R6364:Zswim8
|
UTSW |
14 |
20,763,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R6426:Zswim8
|
UTSW |
14 |
20,768,594 (GRCm39) |
missense |
probably damaging |
0.99 |
R6576:Zswim8
|
UTSW |
14 |
20,771,942 (GRCm39) |
missense |
probably benign |
0.41 |
R6798:Zswim8
|
UTSW |
14 |
20,766,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R7059:Zswim8
|
UTSW |
14 |
20,764,641 (GRCm39) |
splice site |
probably null |
|
R7243:Zswim8
|
UTSW |
14 |
20,764,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R7250:Zswim8
|
UTSW |
14 |
20,770,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R7311:Zswim8
|
UTSW |
14 |
20,771,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R7567:Zswim8
|
UTSW |
14 |
20,770,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R7635:Zswim8
|
UTSW |
14 |
20,766,368 (GRCm39) |
missense |
probably damaging |
0.99 |
R7771:Zswim8
|
UTSW |
14 |
20,763,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R7874:Zswim8
|
UTSW |
14 |
20,773,217 (GRCm39) |
missense |
probably damaging |
0.98 |
R7994:Zswim8
|
UTSW |
14 |
20,758,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8466:Zswim8
|
UTSW |
14 |
20,760,744 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9019:Zswim8
|
UTSW |
14 |
20,761,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R9177:Zswim8
|
UTSW |
14 |
20,761,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R9192:Zswim8
|
UTSW |
14 |
20,769,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R9229:Zswim8
|
UTSW |
14 |
20,766,393 (GRCm39) |
missense |
probably benign |
0.45 |
R9268:Zswim8
|
UTSW |
14 |
20,761,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R9562:Zswim8
|
UTSW |
14 |
20,762,150 (GRCm39) |
nonsense |
probably null |
|
R9589:Zswim8
|
UTSW |
14 |
20,763,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R9621:Zswim8
|
UTSW |
14 |
20,772,231 (GRCm39) |
missense |
probably benign |
0.00 |
X0026:Zswim8
|
UTSW |
14 |
20,760,700 (GRCm39) |
splice site |
probably null |
|
X0028:Zswim8
|
UTSW |
14 |
20,764,725 (GRCm39) |
missense |
probably benign |
0.19 |
X0058:Zswim8
|
UTSW |
14 |
20,763,058 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Zswim8
|
UTSW |
14 |
20,763,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |