Incidental Mutation 'R0458:Zswim8'
ID |
41331 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim8
|
Ensembl Gene |
ENSMUSG00000021819 |
Gene Name |
zinc finger SWIM-type containing 8 |
Synonyms |
2310021P13Rik, 4832404P21Rik |
MMRRC Submission |
038658-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R0458 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
20757620-20773687 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 20768965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 1128
(R1128W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022358]
[ENSMUST00000047490]
[ENSMUST00000223679]
[ENSMUST00000223840]
[ENSMUST00000224751]
[ENSMUST00000225000]
|
AlphaFold |
Q3UHH1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022358
AA Change: R1135W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022358 Gene: ENSMUSG00000021819 AA Change: R1135W
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 |
noncoding transcript
Transcript: ENSMUST00000223561
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223679
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223782
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223840
AA Change: R1101W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224485
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224751
AA Change: R1128W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225332
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225743
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225187
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224829
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225000
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225010
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225911
|
Meta Mutation Damage Score |
0.0867 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
A |
G |
1: 85,856,747 (GRCm39) |
E8G |
unknown |
Het |
9130008F23Rik |
T |
C |
17: 41,191,127 (GRCm39) |
T101A |
probably benign |
Het |
Abcb8 |
C |
T |
5: 24,611,231 (GRCm39) |
T455I |
probably benign |
Het |
Abcb9 |
C |
A |
5: 124,220,209 (GRCm39) |
|
probably null |
Het |
Akp3 |
T |
G |
1: 87,054,259 (GRCm39) |
Y265* |
probably null |
Het |
Atp6v1b1 |
A |
T |
6: 83,729,390 (GRCm39) |
D109V |
probably damaging |
Het |
Aurka |
C |
A |
2: 172,212,366 (GRCm39) |
E4* |
probably null |
Het |
Cacna1g |
T |
A |
11: 94,300,266 (GRCm39) |
Q2168L |
probably damaging |
Het |
Cdc45 |
T |
A |
16: 18,600,722 (GRCm39) |
|
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,850,837 (GRCm39) |
V325A |
probably benign |
Het |
Clasp2 |
T |
A |
9: 113,735,292 (GRCm39) |
|
probably null |
Het |
Crim1 |
T |
A |
17: 78,620,655 (GRCm39) |
I365N |
probably damaging |
Het |
Dcaf8 |
A |
G |
1: 172,001,610 (GRCm39) |
N269S |
probably benign |
Het |
Dnaaf5 |
T |
C |
5: 139,147,633 (GRCm39) |
V399A |
possibly damaging |
Het |
Ear2 |
A |
G |
14: 44,340,705 (GRCm39) |
Y121C |
probably damaging |
Het |
Eef2k |
T |
C |
7: 120,502,513 (GRCm39) |
Y692H |
probably damaging |
Het |
Elavl2 |
A |
T |
4: 91,197,104 (GRCm39) |
|
probably benign |
Het |
Epn2 |
C |
A |
11: 61,437,281 (GRCm39) |
R97L |
possibly damaging |
Het |
Fam243 |
T |
C |
16: 92,117,995 (GRCm39) |
I98V |
probably benign |
Het |
Fzd6 |
G |
A |
15: 38,894,676 (GRCm39) |
A281T |
probably damaging |
Het |
Garem2 |
T |
A |
5: 30,319,180 (GRCm39) |
I214N |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,887,238 (GRCm39) |
|
probably benign |
Het |
Golm1 |
T |
C |
13: 59,812,178 (GRCm39) |
E48G |
probably damaging |
Het |
Gpaa1 |
G |
T |
15: 76,216,233 (GRCm39) |
R12L |
probably benign |
Het |
Gstm1 |
T |
A |
3: 107,924,679 (GRCm39) |
T34S |
probably benign |
Het |
Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
Herc1 |
A |
T |
9: 66,383,663 (GRCm39) |
Q3709L |
probably benign |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Icam1 |
A |
G |
9: 20,939,157 (GRCm39) |
|
probably null |
Het |
Itga9 |
T |
C |
9: 118,510,096 (GRCm39) |
|
probably null |
Het |
Kif15 |
T |
C |
9: 122,838,424 (GRCm39) |
F1121L |
probably benign |
Het |
Klhl30 |
T |
A |
1: 91,288,718 (GRCm39) |
|
probably benign |
Het |
Ldlrad1 |
T |
C |
4: 107,073,387 (GRCm39) |
C141R |
probably damaging |
Het |
Lemd2 |
T |
C |
17: 27,409,627 (GRCm39) |
D508G |
probably damaging |
Het |
Lilra5 |
A |
C |
7: 4,241,218 (GRCm39) |
T52P |
probably benign |
Het |
Lrtm2 |
G |
A |
6: 119,294,229 (GRCm39) |
P301S |
probably damaging |
Het |
Mcoln2 |
A |
G |
3: 145,855,768 (GRCm39) |
|
probably benign |
Het |
Mkrn2os |
A |
G |
6: 115,563,631 (GRCm39) |
S135P |
probably damaging |
Het |
Mlxipl |
T |
C |
5: 135,162,224 (GRCm39) |
V607A |
probably benign |
Het |
Mmadhc |
T |
C |
2: 50,171,173 (GRCm39) |
Y213C |
probably benign |
Het |
Mpo |
C |
A |
11: 87,687,123 (GRCm39) |
A223E |
probably benign |
Het |
Mthfd2l |
C |
G |
5: 91,168,036 (GRCm39) |
I310M |
probably damaging |
Het |
Muc5b |
C |
A |
7: 141,418,709 (GRCm39) |
A3885D |
probably benign |
Het |
Mvp |
A |
G |
7: 126,597,663 (GRCm39) |
W152R |
probably damaging |
Het |
Nmur2 |
A |
T |
11: 55,931,394 (GRCm39) |
F106I |
possibly damaging |
Het |
Nr3c2 |
T |
A |
8: 77,636,167 (GRCm39) |
F423I |
probably damaging |
Het |
Or1l8 |
A |
G |
2: 36,817,349 (GRCm39) |
V259A |
probably damaging |
Het |
Or5m5 |
A |
G |
2: 85,814,600 (GRCm39) |
S139G |
probably benign |
Het |
Or8c16 |
G |
A |
9: 38,130,344 (GRCm39) |
C75Y |
probably damaging |
Het |
Or9q1 |
G |
T |
19: 13,805,593 (GRCm39) |
H56N |
probably benign |
Het |
Pappa |
A |
G |
4: 65,074,119 (GRCm39) |
I224M |
probably damaging |
Het |
Prex1 |
A |
C |
2: 166,427,743 (GRCm39) |
S800A |
probably damaging |
Het |
Prkaca |
T |
C |
8: 84,721,911 (GRCm39) |
|
probably benign |
Het |
Ptpru |
A |
T |
4: 131,526,986 (GRCm39) |
V662E |
possibly damaging |
Het |
Rabep1 |
T |
A |
11: 70,777,824 (GRCm39) |
|
probably null |
Het |
Rbms2 |
C |
T |
10: 127,987,058 (GRCm39) |
C50Y |
probably damaging |
Het |
Rd3 |
C |
T |
1: 191,709,414 (GRCm39) |
P25S |
probably damaging |
Het |
Rnf148 |
T |
G |
6: 23,654,256 (GRCm39) |
I247L |
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,538,768 (GRCm39) |
|
probably benign |
Het |
Slc35c1 |
A |
T |
2: 92,284,858 (GRCm39) |
F252Y |
probably damaging |
Het |
Slc38a11 |
T |
C |
2: 65,193,813 (GRCm39) |
|
probably null |
Het |
Snx6 |
G |
T |
12: 54,814,921 (GRCm39) |
Y17* |
probably null |
Het |
Sox6 |
C |
A |
7: 115,089,029 (GRCm39) |
R611L |
probably damaging |
Het |
Spata13 |
G |
A |
14: 60,929,492 (GRCm39) |
R350H |
probably damaging |
Het |
Sppl2a |
G |
T |
2: 126,746,879 (GRCm39) |
A483D |
probably damaging |
Het |
Stat1 |
C |
T |
1: 52,188,211 (GRCm39) |
|
probably benign |
Het |
Tab2 |
A |
T |
10: 7,795,319 (GRCm39) |
Y314N |
probably damaging |
Het |
Tor1aip1 |
T |
C |
1: 155,906,153 (GRCm39) |
N213S |
probably damaging |
Het |
Trim39 |
T |
C |
17: 36,572,404 (GRCm39) |
K300E |
probably damaging |
Het |
Tubal3 |
T |
C |
13: 3,983,137 (GRCm39) |
S306P |
probably damaging |
Het |
Ufm1 |
A |
G |
3: 53,768,655 (GRCm39) |
L33P |
probably damaging |
Het |
Washc4 |
G |
A |
10: 83,382,663 (GRCm39) |
V26I |
possibly damaging |
Het |
Wfs1 |
A |
G |
5: 37,126,013 (GRCm39) |
Y293H |
probably damaging |
Het |
Zbtb41 |
T |
C |
1: 139,351,214 (GRCm39) |
V109A |
probably damaging |
Het |
Zfp667 |
T |
C |
7: 6,307,844 (GRCm39) |
S171P |
probably benign |
Het |
Zkscan5 |
T |
A |
5: 145,142,281 (GRCm39) |
H59Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTCACAGAGAAGAATGTACCCG -3'
(R):5'- AGCTGCTAATGCTGTCACTGTCTTG -3'
Sequencing Primer
(F):5'- TCCAGTCAGGTTGTGCCC -3'
(R):5'- TTGTCCTCGACCCCAAGAAG -3'
|
Posted On |
2013-05-23 |