Incidental Mutation 'IGL02203:Swt1'
| ID |
284398 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Swt1
|
| Ensembl Gene |
ENSMUSG00000052748 |
| Gene Name |
SWT1 RNA endoribonuclease homolog (S. cerevisiae) |
| Synonyms |
1200016B10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
IGL02203
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
151243450-151304206 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 151246377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 849
(K849N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064771]
[ENSMUST00000111883]
|
| AlphaFold |
Q9DBQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064771
AA Change: K849N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: K849N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
186 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
PINc
|
395 |
522 |
1.94e-9 |
SMART |
|
low complexity region
|
783 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111883
|
| SMART Domains |
Protein: ENSMUSP00000107514
Gene: ENSMUSG00000052748
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
186 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
PINc
|
395 |
522 |
1.94e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124880
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
C |
3: 121,973,457 (GRCm39) |
D1095A |
probably benign |
Het |
| Acmsd |
T |
C |
1: 127,666,342 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
G |
A |
14: 49,317,715 (GRCm39) |
G324D |
probably damaging |
Het |
| Api5 |
T |
G |
2: 94,255,419 (GRCm39) |
N252T |
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,863,387 (GRCm39) |
C743* |
probably null |
Het |
| Clpb |
A |
G |
7: 101,428,544 (GRCm39) |
T435A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,713,073 (GRCm39) |
|
probably null |
Het |
| Cyp3a11 |
T |
G |
5: 145,805,976 (GRCm39) |
R130S |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,721,173 (GRCm39) |
T612A |
probably benign |
Het |
| Dipk1a |
A |
G |
5: 108,059,647 (GRCm39) |
L57S |
probably benign |
Het |
| Eng |
A |
G |
2: 32,561,498 (GRCm39) |
I170V |
probably benign |
Het |
| Gfra2 |
T |
A |
14: 71,204,524 (GRCm39) |
M74K |
possibly damaging |
Het |
| Gpr137c |
A |
G |
14: 45,514,944 (GRCm39) |
T268A |
possibly damaging |
Het |
| Gramd2b |
T |
C |
18: 56,612,026 (GRCm39) |
|
probably null |
Het |
| Il13ra2 |
A |
G |
X: 146,166,669 (GRCm39) |
L367P |
possibly damaging |
Het |
| Insr |
T |
C |
8: 3,205,817 (GRCm39) |
H1324R |
probably benign |
Het |
| Lgi3 |
A |
G |
14: 70,771,958 (GRCm39) |
E215G |
possibly damaging |
Het |
| Mst1r |
A |
G |
9: 107,790,348 (GRCm39) |
T654A |
possibly damaging |
Het |
| Mst1r |
A |
G |
9: 107,785,068 (GRCm39) |
Y242C |
probably damaging |
Het |
| Myo16 |
A |
T |
8: 10,620,132 (GRCm39) |
Q1561L |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,973,134 (GRCm39) |
M2222R |
probably damaging |
Het |
| Or10ak13 |
A |
T |
4: 118,639,626 (GRCm39) |
V52D |
possibly damaging |
Het |
| Or13p10 |
A |
T |
4: 118,523,379 (GRCm39) |
I222F |
probably benign |
Het |
| Or2ag1 |
A |
G |
7: 106,313,837 (GRCm39) |
I17T |
probably benign |
Het |
| Or5ap2 |
T |
G |
2: 85,680,432 (GRCm39) |
F212C |
probably damaging |
Het |
| Or8b50 |
A |
G |
9: 38,518,719 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,606,160 (GRCm39) |
P1239L |
possibly damaging |
Het |
| Ptprm |
A |
T |
17: 67,260,118 (GRCm39) |
I499K |
probably damaging |
Het |
| Rabep2 |
G |
T |
7: 126,039,566 (GRCm39) |
R331L |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sema7a |
A |
G |
9: 57,864,889 (GRCm39) |
T397A |
probably benign |
Het |
| Sftpc |
A |
C |
14: 70,759,309 (GRCm39) |
M124R |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,949,878 (GRCm39) |
Y198C |
probably damaging |
Het |
| Sppl2a |
A |
T |
2: 126,746,861 (GRCm39) |
M489K |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,219,457 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,432 (GRCm39) |
V608A |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,619,369 (GRCm39) |
Y1349C |
probably damaging |
Het |
| Ybx3 |
A |
G |
6: 131,345,371 (GRCm39) |
V265A |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Swt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Swt1
|
APN |
1 |
151,286,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01622:Swt1
|
APN |
1 |
151,286,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01623:Swt1
|
APN |
1 |
151,286,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01672:Swt1
|
APN |
1 |
151,270,359 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01693:Swt1
|
APN |
1 |
151,297,855 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03223:Swt1
|
APN |
1 |
151,255,170 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0124:Swt1
|
UTSW |
1 |
151,267,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Swt1
|
UTSW |
1 |
151,287,021 (GRCm39) |
missense |
probably benign |
|
|
R1037:Swt1
|
UTSW |
1 |
151,246,320 (GRCm39) |
splice site |
probably benign |
|
|
R1171:Swt1
|
UTSW |
1 |
151,281,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1270:Swt1
|
UTSW |
1 |
151,260,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1883:Swt1
|
UTSW |
1 |
151,299,284 (GRCm39) |
nonsense |
probably null |
|
|
R2051:Swt1
|
UTSW |
1 |
151,248,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2110:Swt1
|
UTSW |
1 |
151,279,636 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2185:Swt1
|
UTSW |
1 |
151,260,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3688:Swt1
|
UTSW |
1 |
151,267,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3785:Swt1
|
UTSW |
1 |
151,255,155 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4074:Swt1
|
UTSW |
1 |
151,270,520 (GRCm39) |
missense |
probably benign |
|
|
R4157:Swt1
|
UTSW |
1 |
151,278,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Swt1
|
UTSW |
1 |
151,283,348 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4761:Swt1
|
UTSW |
1 |
151,276,853 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4972:Swt1
|
UTSW |
1 |
151,299,293 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5141:Swt1
|
UTSW |
1 |
151,287,145 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5227:Swt1
|
UTSW |
1 |
151,278,727 (GRCm39) |
nonsense |
probably null |
|
|
R5400:Swt1
|
UTSW |
1 |
151,288,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5580:Swt1
|
UTSW |
1 |
151,260,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5912:Swt1
|
UTSW |
1 |
151,287,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5945:Swt1
|
UTSW |
1 |
151,286,921 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5973:Swt1
|
UTSW |
1 |
151,278,700 (GRCm39) |
splice site |
probably null |
|
|
R5979:Swt1
|
UTSW |
1 |
151,283,339 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6242:Swt1
|
UTSW |
1 |
151,283,365 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6283:Swt1
|
UTSW |
1 |
151,260,084 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6951:Swt1
|
UTSW |
1 |
151,273,019 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7009:Swt1
|
UTSW |
1 |
151,246,381 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7165:Swt1
|
UTSW |
1 |
151,264,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Swt1
|
UTSW |
1 |
151,270,364 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7403:Swt1
|
UTSW |
1 |
151,264,444 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7439:Swt1
|
UTSW |
1 |
151,286,815 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7441:Swt1
|
UTSW |
1 |
151,286,815 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7571:Swt1
|
UTSW |
1 |
151,270,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8028:Swt1
|
UTSW |
1 |
151,260,248 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8225:Swt1
|
UTSW |
1 |
151,297,859 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9075:Swt1
|
UTSW |
1 |
151,246,245 (GRCm39) |
intron |
probably benign |
|
|
R9100:Swt1
|
UTSW |
1 |
151,299,256 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9135:Swt1
|
UTSW |
1 |
151,244,239 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9291:Swt1
|
UTSW |
1 |
151,286,694 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9292:Swt1
|
UTSW |
1 |
151,278,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9368:Swt1
|
UTSW |
1 |
151,286,767 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0062:Swt1
|
UTSW |
1 |
151,287,190 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1176:Swt1
|
UTSW |
1 |
151,264,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation