Incidental Mutation 'IGL01623:Swt1'
| ID |
278670 |
| 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: 0.150)
|
| Stock # |
IGL01623
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
151243450-151304206 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 151286760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 244
(T244N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064771]
[ENSMUST00000111883]
|
| AlphaFold |
Q9DBQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064771
AA Change: T244N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: T244N
| 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
AA Change: T244N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000107514
Gene: ENSMUSG00000052748
AA Change: T244N
| 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 |
probably benign
Transcript: ENSMUST00000129939
|
| SMART Domains |
Protein: ENSMUSP00000120483
Gene: ENSMUSG00000052748
| Domain | Start | End | E-Value | Type |
|---|
|
PINc
|
146 |
245 |
6.78e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138095
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
G |
A |
14: 35,532,024 (GRCm39) |
Q184* |
probably null |
Het |
| A1bg |
A |
C |
15: 60,789,742 (GRCm39) |
I502S |
possibly damaging |
Het |
| Actl11 |
T |
C |
9: 107,805,775 (GRCm39) |
S33P |
probably benign |
Het |
| Aftph |
G |
T |
11: 20,659,632 (GRCm39) |
D730E |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,767,773 (GRCm39) |
|
probably benign |
Het |
| Brf1 |
T |
G |
12: 112,924,795 (GRCm39) |
E643A |
probably benign |
Het |
| Caskin1 |
G |
T |
17: 24,722,914 (GRCm39) |
|
probably null |
Het |
| Ccnjl |
T |
C |
11: 43,476,154 (GRCm39) |
V259A |
probably benign |
Het |
| Ccser2 |
G |
T |
14: 36,662,920 (GRCm39) |
T88K |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,074,824 (GRCm39) |
|
probably benign |
Het |
| Clec16a |
G |
A |
16: 10,395,774 (GRCm39) |
S309N |
possibly damaging |
Het |
| Cpxm1 |
C |
A |
2: 130,233,191 (GRCm39) |
A633S |
probably benign |
Het |
| Ctnnbl1 |
A |
T |
2: 157,661,468 (GRCm39) |
N326I |
probably damaging |
Het |
| Cyp46a1 |
T |
C |
12: 108,318,234 (GRCm39) |
V215A |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,121,701 (GRCm39) |
Y1427C |
probably damaging |
Het |
| Dpy19l3 |
G |
A |
7: 35,422,169 (GRCm39) |
T228I |
probably damaging |
Het |
| Fam131c |
C |
T |
4: 141,109,761 (GRCm39) |
A131V |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,482,592 (GRCm39) |
T3061A |
possibly damaging |
Het |
| Fgl2 |
T |
A |
5: 21,578,175 (GRCm39) |
L154H |
possibly damaging |
Het |
| Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,340,544 (GRCm39) |
T946A |
probably benign |
Het |
| Gan |
T |
A |
8: 117,913,917 (GRCm39) |
V105D |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,761,722 (GRCm39) |
V330A |
probably benign |
Het |
| Gm28043 |
T |
C |
17: 29,895,222 (GRCm39) |
F134L |
probably benign |
Het |
| Gramd1c |
A |
G |
16: 43,811,061 (GRCm39) |
V221A |
probably damaging |
Het |
| Hacd1 |
A |
G |
2: 14,040,667 (GRCm39) |
V196A |
probably benign |
Het |
| Kcna6 |
C |
A |
6: 126,715,576 (GRCm39) |
V438L |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,508,582 (GRCm39) |
V512A |
probably benign |
Het |
| Lrfn1 |
A |
G |
7: 28,166,111 (GRCm39) |
T502A |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,377,844 (GRCm39) |
F105I |
possibly damaging |
Het |
| Or4b13 |
T |
G |
2: 90,082,953 (GRCm39) |
K126N |
probably damaging |
Het |
| Or5m10 |
A |
T |
2: 85,717,306 (GRCm39) |
H54L |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,092,480 (GRCm39) |
T171I |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,399,366 (GRCm39) |
E439G |
possibly damaging |
Het |
| Pik3c3 |
A |
T |
18: 30,423,578 (GRCm39) |
K225* |
probably null |
Het |
| Pik3c3 |
A |
G |
18: 30,426,102 (GRCm39) |
|
probably benign |
Het |
| Pik3r5 |
T |
A |
11: 68,377,452 (GRCm39) |
|
probably null |
Het |
| Pnpt1 |
A |
C |
11: 29,098,272 (GRCm39) |
|
probably benign |
Het |
| Ppp2r1b |
T |
A |
9: 50,789,422 (GRCm39) |
V495D |
probably damaging |
Het |
| Rbfox3 |
C |
A |
11: 118,396,440 (GRCm39) |
|
probably benign |
Het |
| Sec14l2 |
G |
A |
11: 4,053,966 (GRCm39) |
P234S |
possibly damaging |
Het |
| Sec16a |
A |
C |
2: 26,328,915 (GRCm39) |
D1033E |
probably benign |
Het |
| Septin14 |
A |
G |
5: 129,763,019 (GRCm39) |
V357A |
probably damaging |
Het |
| Setx |
T |
C |
2: 29,053,021 (GRCm39) |
V2095A |
possibly damaging |
Het |
| Sf3a3 |
C |
T |
4: 124,612,136 (GRCm39) |
T131I |
possibly damaging |
Het |
| Snrpa |
A |
T |
7: 26,892,395 (GRCm39) |
M55K |
probably benign |
Het |
| Tbl1xr1 |
A |
G |
3: 22,246,238 (GRCm39) |
T253A |
probably benign |
Het |
| Tst |
G |
T |
15: 78,283,964 (GRCm39) |
R288S |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,910 (GRCm39) |
I238V |
probably benign |
Het |
| Zbtb14 |
A |
G |
17: 69,695,184 (GRCm39) |
K294R |
probably benign |
Het |
| Zfp710 |
T |
A |
7: 79,730,871 (GRCm39) |
V16E |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,965,320 (GRCm39) |
T602A |
probably benign |
Het |
| Zfr2 |
G |
A |
10: 81,087,193 (GRCm39) |
M850I |
probably benign |
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 |
|
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 |
|
IGL02203:Swt1
|
APN |
1 |
151,246,377 (GRCm39) |
missense |
probably benign |
0.01 |
|
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