Incidental Mutation 'IGL02712:Zswim5'
| ID |
304601 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zswim5
|
| Ensembl Gene |
ENSMUSG00000033948 |
| Gene Name |
zinc finger SWIM-type containing 5 |
| Synonyms |
4933426E21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02712
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116734573-116846461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 116842892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 879
(T879I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030446]
[ENSMUST00000044823]
|
| 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: T879I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
AA Change: T879I
| 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 |
noncoding transcript
Transcript: ENSMUST00000134598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150370
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angel1 |
A |
G |
12: 86,769,613 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
T |
A |
17: 80,667,802 (GRCm39) |
V289D |
probably damaging |
Het |
| Cabp5 |
A |
G |
7: 13,137,271 (GRCm39) |
M93V |
probably damaging |
Het |
| Ces1a |
A |
C |
8: 93,762,668 (GRCm39) |
V201G |
probably damaging |
Het |
| Cisd1 |
A |
G |
10: 71,172,181 (GRCm39) |
F34L |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,688,426 (GRCm39) |
L316P |
probably damaging |
Het |
| Ddx39a |
A |
G |
8: 84,448,386 (GRCm39) |
I213V |
probably benign |
Het |
| Ddx59 |
A |
T |
1: 136,367,519 (GRCm39) |
N542I |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,703,581 (GRCm39) |
T233A |
probably benign |
Het |
| Fbxo7 |
A |
G |
10: 85,860,302 (GRCm39) |
T49A |
possibly damaging |
Het |
| Fmnl2 |
C |
A |
2: 52,926,510 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
G |
T |
2: 32,194,225 (GRCm39) |
K610N |
probably damaging |
Het |
| Hipk4 |
T |
C |
7: 27,228,060 (GRCm39) |
Y269H |
probably damaging |
Het |
| Ifi209 |
T |
C |
1: 173,470,267 (GRCm39) |
V285A |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Map3k13 |
T |
G |
16: 21,724,005 (GRCm39) |
V329G |
probably damaging |
Het |
| Mrm3 |
T |
C |
11: 76,134,683 (GRCm39) |
W29R |
possibly damaging |
Het |
| Nherf1 |
T |
C |
11: 115,068,060 (GRCm39) |
V200A |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,156,820 (GRCm39) |
I213V |
possibly damaging |
Het |
| Nphp4 |
C |
T |
4: 152,640,732 (GRCm39) |
T1033M |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,868,266 (GRCm39) |
|
probably null |
Het |
| Nrcam |
A |
G |
12: 44,620,610 (GRCm39) |
Y885C |
probably damaging |
Het |
| Odr4 |
A |
G |
1: 150,262,107 (GRCm39) |
|
probably null |
Het |
| Or1e17 |
T |
C |
11: 73,831,756 (GRCm39) |
V228A |
probably benign |
Het |
| Or8b57 |
T |
C |
9: 40,004,082 (GRCm39) |
H60R |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,893,829 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,376,113 (GRCm39) |
S1341G |
probably benign |
Het |
| Pld2 |
T |
G |
11: 70,447,905 (GRCm39) |
L856R |
probably benign |
Het |
| Plod1 |
A |
G |
4: 148,003,344 (GRCm39) |
F494L |
possibly damaging |
Het |
| Pnkd |
T |
A |
1: 74,389,027 (GRCm39) |
S233T |
possibly damaging |
Het |
| Rnf144b |
T |
C |
13: 47,393,255 (GRCm39) |
I198T |
probably damaging |
Het |
| Rsc1a1 |
G |
T |
4: 141,412,376 (GRCm39) |
Q179K |
probably benign |
Het |
| Slc5a10 |
C |
T |
11: 61,598,632 (GRCm39) |
W249* |
probably null |
Het |
| Spata32 |
T |
G |
11: 103,098,973 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
T |
A |
2: 163,938,817 (GRCm39) |
H228Q |
probably damaging |
Het |
| Szt2 |
T |
A |
4: 118,242,030 (GRCm39) |
Q1592L |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,893,493 (GRCm39) |
I1598F |
probably damaging |
Het |
| Togaram2 |
A |
T |
17: 72,011,749 (GRCm39) |
D476V |
probably benign |
Het |
| Ttll6 |
T |
G |
11: 96,030,601 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
A |
G |
17: 55,899,655 (GRCm39) |
S750P |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation