Incidental Mutation 'R7874:Zswim8'
| ID |
608347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim8
|
| Ensembl Gene |
ENSMUSG00000021819 |
| Gene Name |
zinc finger SWIM-type containing 8 |
| Synonyms |
2310021P13Rik, 4832404P21Rik |
| MMRRC Submission |
045926-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R7874 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20757620-20773687 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20773217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1769
(H1769R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022358]
[ENSMUST00000047490]
[ENSMUST00000223679]
[ENSMUST00000223840]
[ENSMUST00000224751]
[ENSMUST00000225000]
[ENSMUST00000225419]
|
| AlphaFold |
Q3UHH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022358
AA Change: H1769R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: H1769R
| 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 |
probably benign
Transcript: ENSMUST00000047490
|
| SMART Domains |
Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HSNSD
|
25 |
514 |
9.1e-245 |
PFAM |
|
Pfam:Sulfotransfer_1
|
603 |
866 |
9.1e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223679
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223840
AA Change: H1735R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224751
AA Change: H1762R
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225000
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225419
|
| Predicted Effect |
silent
Transcript: ENSMUST00000225911
|
| Meta Mutation Damage Score |
0.3839 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008P02Rik |
C |
A |
3: 6,685,201 (GRCm39) |
K84N |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,583,271 (GRCm39) |
F276L |
possibly damaging |
Het |
| Aicda |
T |
A |
6: 122,538,908 (GRCm39) |
I179N |
probably damaging |
Het |
| Anks6 |
T |
A |
4: 47,049,275 (GRCm39) |
H210L |
unknown |
Het |
| Ano1 |
G |
A |
7: 144,175,461 (GRCm39) |
R486W |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,600 (GRCm39) |
N536S |
possibly damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,704,095 (GRCm39) |
V341A |
probably benign |
Het |
| Btn1a1 |
T |
C |
13: 23,643,385 (GRCm39) |
T355A |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Ceacam19 |
A |
T |
7: 19,620,363 (GRCm39) |
D89E |
probably damaging |
Het |
| Cerkl |
T |
A |
2: 79,168,981 (GRCm39) |
R407S |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,667,224 (GRCm39) |
T389A |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,346,056 (GRCm39) |
|
probably null |
Het |
| Defa39 |
C |
A |
8: 22,192,812 (GRCm39) |
R61S |
possibly damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,922,485 (GRCm39) |
Q558R |
possibly damaging |
Het |
| Dhx36 |
C |
A |
3: 62,396,052 (GRCm39) |
V452L |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,185,687 (GRCm39) |
V1906A |
probably damaging |
Het |
| Emc4 |
T |
C |
2: 112,194,178 (GRCm39) |
T159A |
probably damaging |
Het |
| Fstl5 |
C |
A |
3: 76,569,093 (GRCm39) |
P582Q |
probably benign |
Het |
| Izumo1r |
T |
A |
9: 14,811,875 (GRCm39) |
Y171F |
probably benign |
Het |
| Jag2 |
C |
T |
12: 112,879,566 (GRCm39) |
V401M |
probably damaging |
Het |
| Jph2 |
C |
T |
2: 163,217,762 (GRCm39) |
G305S |
probably damaging |
Het |
| Kbtbd13 |
C |
A |
9: 65,297,584 (GRCm39) |
V451L |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,409,077 (GRCm39) |
T813A |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,875,783 (GRCm39) |
L1295P |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,155,374 (GRCm39) |
D362E |
probably damaging |
Het |
| Mospd3 |
T |
C |
5: 137,598,290 (GRCm39) |
Y77C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Mup8 |
T |
A |
4: 60,222,420 (GRCm39) |
H17L |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Ndnf |
A |
T |
6: 65,680,413 (GRCm39) |
M231L |
probably benign |
Het |
| Obscn |
T |
G |
11: 59,024,102 (GRCm39) |
T523P |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,573 (GRCm39) |
V301A |
possibly damaging |
Het |
| P4htm |
G |
T |
9: 108,474,148 (GRCm39) |
A130E |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,863 (GRCm39) |
D439E |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,317,603 (GRCm39) |
I1275V |
probably benign |
Het |
| Poln |
A |
T |
5: 34,181,694 (GRCm39) |
I719N |
probably damaging |
Het |
| Ptch2 |
T |
A |
4: 116,963,161 (GRCm39) |
L216Q |
possibly damaging |
Het |
| Rarres2 |
T |
A |
6: 48,549,079 (GRCm39) |
K41N |
probably benign |
Het |
| Rasal3 |
C |
T |
17: 32,615,681 (GRCm39) |
E386K |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,698,491 (GRCm39) |
I996T |
possibly damaging |
Het |
| Rreb1 |
A |
G |
13: 38,131,100 (GRCm39) |
N36S |
probably damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
A |
G |
18: 78,203,983 (GRCm39) |
V526A |
probably benign |
Het |
| Slc45a4 |
T |
C |
15: 73,456,184 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
G |
A |
17: 24,034,652 (GRCm39) |
R432H |
unknown |
Het |
| Th |
G |
A |
7: 142,449,308 (GRCm39) |
R266* |
probably null |
Het |
| Tln1 |
T |
C |
4: 43,538,041 (GRCm39) |
Y1853C |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,555,606 (GRCm39) |
D169E |
probably damaging |
Het |
| Tmcc3 |
G |
A |
10: 94,386,889 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
G |
17: 34,930,417 (GRCm39) |
E2034G |
probably damaging |
Het |
| Top6bl |
C |
T |
19: 4,708,451 (GRCm39) |
C347Y |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,522,881 (GRCm39) |
T346A |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,453 (GRCm39) |
V842E |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,232,345 (GRCm39) |
N781K |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,978 (GRCm39) |
Y67N |
possibly damaging |
Het |
| Zfp273 |
A |
G |
13: 67,973,558 (GRCm39) |
T229A |
probably benign |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,750,479 (GRCm39) |
V929A |
probably benign |
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 |
|
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 |
|
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'- TGCAGGAGATCGTCATGGAG -3'
(R):5'- GAAGGTGGTTATCTCCAGAGAG -3'
Sequencing Primer
(F):5'- GGCTGAACCCCATTCATGC -3'
(R):5'- TCTCCAGAGAGACCCGCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation