Incidental Mutation 'R1780:Zswim8'
| ID |
197474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim8
|
| Ensembl Gene |
ENSMUSG00000021819 |
| Gene Name |
zinc finger SWIM-type containing 8 |
| Synonyms |
2310021P13Rik, 4832404P21Rik |
| MMRRC Submission |
039811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R1780 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20757620-20773687 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 20766395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 841
(H841N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022358]
[ENSMUST00000223840]
[ENSMUST00000224129]
[ENSMUST00000224751]
|
| AlphaFold |
Q3UHH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022358
AA Change: H848N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: H848N
| 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: H814N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224485
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224751
AA Change: H841N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225715
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225743
|
| Meta Mutation Damage Score |
0.2024 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.3%
|
| Validation Efficiency |
98% (80/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
C |
3: 148,558,229 (GRCm39) |
E493G |
probably damaging |
Het |
| Aff3 |
A |
T |
1: 38,574,783 (GRCm39) |
S66T |
probably damaging |
Het |
| Ankrd17 |
T |
A |
5: 90,380,274 (GRCm39) |
K2470N |
probably damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,091,138 (GRCm39) |
T156A |
probably benign |
Het |
| Arhgef4 |
T |
A |
1: 34,763,241 (GRCm39) |
S832R |
possibly damaging |
Het |
| Asb10 |
T |
C |
5: 24,738,674 (GRCm39) |
D423G |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,873,291 (GRCm39) |
T25A |
probably benign |
Het |
| Atp13a2 |
T |
A |
4: 140,729,771 (GRCm39) |
L663I |
possibly damaging |
Het |
| Atp9b |
A |
T |
18: 80,820,112 (GRCm39) |
Y174* |
probably null |
Het |
| Bche |
A |
G |
3: 73,607,953 (GRCm39) |
I491T |
probably benign |
Het |
| Bckdhb |
T |
C |
9: 83,835,836 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
C |
T |
6: 23,320,931 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
A |
T |
12: 111,289,341 (GRCm39) |
V468E |
probably damaging |
Het |
| Chrnd |
T |
C |
1: 87,120,270 (GRCm39) |
V33A |
possibly damaging |
Het |
| Col6a5 |
A |
T |
9: 105,814,077 (GRCm39) |
V645D |
unknown |
Het |
| Cpa1 |
C |
T |
6: 30,643,007 (GRCm39) |
L312F |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,541,301 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
C |
A |
19: 39,527,295 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
T |
C |
15: 82,678,208 (GRCm39) |
N56S |
probably damaging |
Het |
| Ddx21 |
A |
G |
10: 62,429,926 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,991,293 (GRCm39) |
C2358S |
probably damaging |
Het |
| Entpd8 |
T |
C |
2: 24,974,318 (GRCm39) |
S368P |
probably benign |
Het |
| Epg5 |
A |
T |
18: 78,067,205 (GRCm39) |
Q2222L |
probably damaging |
Het |
| Ercc5 |
T |
A |
1: 44,206,956 (GRCm39) |
V623E |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,110,306 (GRCm39) |
E778G |
unknown |
Het |
| Gbe1 |
C |
T |
16: 70,292,212 (GRCm39) |
R515* |
probably null |
Het |
| Hsd17b6 |
A |
G |
10: 127,830,196 (GRCm39) |
|
probably null |
Het |
| Hyal6 |
C |
T |
6: 24,734,031 (GRCm39) |
|
probably benign |
Het |
| Ifi27l2b |
A |
G |
12: 103,417,578 (GRCm39) |
I203T |
probably damaging |
Het |
| Kcnk9 |
A |
C |
15: 72,384,250 (GRCm39) |
D309E |
unknown |
Het |
| Lrp6 |
C |
T |
6: 134,441,414 (GRCm39) |
R1184Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,700,103 (GRCm39) |
F1399L |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mx1 |
T |
C |
16: 97,252,712 (GRCm39) |
*289W |
probably null |
Het |
| Myo7b |
T |
C |
18: 32,094,238 (GRCm39) |
E1970G |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,957,743 (GRCm39) |
Y24C |
probably damaging |
Het |
| Naxe |
G |
C |
3: 87,964,440 (GRCm39) |
P167A |
probably benign |
Het |
| Nmnat2 |
A |
T |
1: 152,988,186 (GRCm39) |
K272* |
probably null |
Het |
| Nmnat3 |
C |
T |
9: 98,236,164 (GRCm39) |
T19M |
probably damaging |
Het |
| Or4f52 |
T |
C |
2: 111,062,043 (GRCm39) |
I32V |
probably benign |
Het |
| Or51b17 |
A |
T |
7: 103,542,762 (GRCm39) |
F60Y |
probably damaging |
Het |
| Or51b4 |
A |
G |
7: 103,530,799 (GRCm39) |
V217A |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,448,726 (GRCm39) |
T131A |
probably benign |
Het |
| Or9s27 |
G |
A |
1: 92,516,111 (GRCm39) |
V20M |
probably benign |
Het |
| Pgm3 |
T |
G |
9: 86,438,257 (GRCm39) |
E509D |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,851,023 (GRCm39) |
D1110E |
probably damaging |
Het |
| Pkd1 |
T |
G |
17: 24,800,543 (GRCm39) |
S3062A |
probably benign |
Het |
| Pogz |
A |
T |
3: 94,777,437 (GRCm39) |
K372N |
possibly damaging |
Het |
| Pou1f1 |
A |
G |
16: 65,320,356 (GRCm39) |
Y15C |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,732,368 (GRCm39) |
T972A |
possibly damaging |
Het |
| Rasip1 |
A |
G |
7: 45,284,742 (GRCm39) |
Y703C |
possibly damaging |
Het |
| Recql |
T |
A |
6: 142,310,324 (GRCm39) |
Q502L |
probably benign |
Het |
| Rgs9 |
A |
T |
11: 109,130,325 (GRCm39) |
Y383* |
probably null |
Het |
| Rimbp3 |
T |
C |
16: 17,030,496 (GRCm39) |
S1307P |
probably benign |
Het |
| Rspo1 |
A |
G |
4: 124,901,538 (GRCm39) |
T200A |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,697,637 (GRCm39) |
M922I |
probably damaging |
Het |
| Samm50 |
C |
T |
15: 84,095,328 (GRCm39) |
A438V |
probably damaging |
Het |
| Sec1 |
A |
C |
7: 45,328,256 (GRCm39) |
S264A |
probably benign |
Het |
| Sec31a |
A |
T |
5: 100,529,195 (GRCm39) |
|
probably null |
Het |
| Slc13a3 |
T |
C |
2: 165,248,619 (GRCm39) |
N553S |
unknown |
Het |
| Smg6 |
T |
A |
11: 74,836,942 (GRCm39) |
L852Q |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,929,174 (GRCm39) |
N244S |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,365,113 (GRCm39) |
R648G |
probably damaging |
Het |
| Sugct |
T |
G |
13: 17,627,039 (GRCm39) |
|
probably null |
Het |
| Tmed10 |
A |
G |
12: 85,401,653 (GRCm39) |
Y85H |
probably damaging |
Het |
| Trim68 |
A |
G |
7: 102,333,280 (GRCm39) |
I134T |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,744,124 (GRCm39) |
C2603R |
possibly damaging |
Het |
| Tspyl3 |
G |
A |
2: 153,067,176 (GRCm39) |
R21W |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,641,043 (GRCm39) |
I11863V |
probably null |
Het |
| Ubp1 |
G |
A |
9: 113,793,647 (GRCm39) |
A283T |
possibly damaging |
Het |
| Ubtf |
A |
T |
11: 102,205,744 (GRCm39) |
F60L |
probably damaging |
Het |
| Vmn1r235 |
T |
C |
17: 21,481,999 (GRCm39) |
I108T |
probably benign |
Het |
| Vmn2r125 |
T |
C |
4: 156,703,668 (GRCm39) |
S349P |
probably damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,805,424 (GRCm39) |
S478P |
probably damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,656,029 (GRCm39) |
V746D |
probably damaging |
Het |
| Zcwpw1 |
A |
G |
5: 137,794,914 (GRCm39) |
K37E |
probably damaging |
Het |
| Zdhhc24 |
T |
C |
19: 4,933,794 (GRCm39) |
S284P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCAAGCGAAGGCTTACAGTCTC -3'
(R):5'- AGCAGAGCAGCTACCTCAGATTCC -3'
Sequencing Primer
(F):5'- AAGGCTTACAGTCTCGGTCC -3'
(R):5'- GCAGCTACCTCAGATTCCTGATATG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation