Incidental Mutation 'IGL02662:Zswim8'
ID |
302596 |
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 # |
IGL02662
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
20757620-20773687 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20763142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 347
(V347A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022358]
[ENSMUST00000223840]
[ENSMUST00000224129]
[ENSMUST00000224751]
|
AlphaFold |
Q3UHH1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022358
AA Change: V347A
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000022358 Gene: ENSMUSG00000021819 AA Change: V347A
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: ENSMUST00000223782
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223840
AA Change: V347A
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224129
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224165
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224751
AA Change: V347A
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225332
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225715
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225743
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
A |
G |
15: 64,618,744 (GRCm39) |
|
probably null |
Het |
Ap5z1 |
G |
A |
5: 142,462,644 (GRCm39) |
|
probably null |
Het |
Cdhr5 |
T |
G |
7: 140,854,416 (GRCm39) |
I120L |
possibly damaging |
Het |
Chd5 |
C |
T |
4: 152,456,588 (GRCm39) |
S975F |
probably damaging |
Het |
Cts3 |
G |
T |
13: 61,715,871 (GRCm39) |
Q132K |
probably damaging |
Het |
Cylc2 |
T |
A |
4: 51,216,698 (GRCm39) |
|
probably benign |
Het |
Defb39 |
A |
G |
8: 19,102,891 (GRCm39) |
V68A |
probably benign |
Het |
Dgki |
A |
G |
6: 36,839,421 (GRCm39) |
|
probably benign |
Het |
Dhtkd1 |
G |
A |
2: 5,904,783 (GRCm39) |
P867L |
probably damaging |
Het |
Gata5 |
C |
T |
2: 179,969,544 (GRCm39) |
|
probably benign |
Het |
Glt28d2 |
T |
A |
3: 85,779,423 (GRCm39) |
I17F |
probably damaging |
Het |
Gstm2 |
T |
C |
3: 107,892,378 (GRCm39) |
Y82C |
possibly damaging |
Het |
Hs6st1 |
T |
A |
1: 36,142,893 (GRCm39) |
L276* |
probably null |
Het |
Iqgap1 |
T |
C |
7: 80,392,827 (GRCm39) |
D712G |
probably benign |
Het |
Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
Ksr1 |
G |
A |
11: 78,927,551 (GRCm39) |
T289I |
probably damaging |
Het |
Lingo4 |
T |
C |
3: 94,309,124 (GRCm39) |
|
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,153,694 (GRCm39) |
S674P |
probably damaging |
Het |
Nek1 |
G |
A |
8: 61,557,218 (GRCm39) |
V841I |
probably benign |
Het |
Or10a48 |
T |
C |
7: 108,424,952 (GRCm39) |
T85A |
probably benign |
Het |
Or8i2 |
T |
C |
2: 86,852,346 (GRCm39) |
T181A |
probably benign |
Het |
Pigx |
A |
G |
16: 31,906,201 (GRCm39) |
V40A |
probably damaging |
Het |
Pla2g2d |
T |
G |
4: 138,506,006 (GRCm39) |
M5R |
possibly damaging |
Het |
Ppa2 |
G |
T |
3: 133,073,644 (GRCm39) |
R234I |
probably damaging |
Het |
Rbms1 |
A |
C |
2: 60,592,650 (GRCm39) |
L221R |
probably damaging |
Het |
Rnasel |
C |
A |
1: 153,629,857 (GRCm39) |
N124K |
probably damaging |
Het |
Serpinb9h |
A |
G |
13: 33,588,513 (GRCm39) |
N366S |
possibly damaging |
Het |
Sigirr |
T |
A |
7: 140,674,707 (GRCm39) |
|
probably benign |
Het |
Tas2r136 |
A |
T |
6: 132,754,671 (GRCm39) |
V152E |
probably damaging |
Het |
Tlnrd1 |
C |
T |
7: 83,532,027 (GRCm39) |
V135M |
possibly damaging |
Het |
Tlnrd1 |
A |
G |
7: 83,531,744 (GRCm39) |
L229S |
probably damaging |
Het |
Top1mt |
A |
G |
15: 75,540,554 (GRCm39) |
V239A |
probably damaging |
Het |
Tpd52 |
A |
T |
3: 9,009,775 (GRCm39) |
|
probably null |
Het |
Trim16 |
T |
A |
11: 62,731,383 (GRCm39) |
L331Q |
possibly damaging |
Het |
Ttll4 |
A |
G |
1: 74,726,390 (GRCm39) |
|
probably null |
Het |
Vmn1r27 |
T |
A |
6: 58,192,272 (GRCm39) |
D244V |
probably damaging |
Het |
Vmn2r72 |
A |
C |
7: 85,387,391 (GRCm39) |
D724E |
probably benign |
Het |
Zfp563 |
T |
C |
17: 33,321,253 (GRCm39) |
W18R |
probably damaging |
Het |
|
Other mutations in Zswim8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Zswim8
|
APN |
14 |
20,768,543 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
2015-04-16 |