Incidental Mutation 'R3785:Swt1'
| ID |
272200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Swt1
|
| Ensembl Gene |
ENSMUSG00000052748 |
| Gene Name |
SWT1 RNA endoribonuclease homolog (S. cerevisiae) |
| Synonyms |
1200016B10Rik |
| MMRRC Submission |
040752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R3785 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151243450-151304206 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 151255155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 814
(D814G)
|
| 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: D814G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: D814G
| 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: ENSMUST00000139244
|
| Meta Mutation Damage Score |
0.0618 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| A2ml1 |
C |
T |
6: 128,521,887 (GRCm39) |
|
probably null |
Het |
| Aak1 |
T |
C |
6: 86,942,560 (GRCm39) |
F701S |
unknown |
Het |
| Arid2 |
T |
A |
15: 96,270,439 (GRCm39) |
D1517E |
possibly damaging |
Het |
| Cyp2r1 |
C |
T |
7: 114,153,931 (GRCm39) |
V88I |
possibly damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dnah11 |
G |
T |
12: 117,981,337 (GRCm39) |
Q2610K |
probably damaging |
Het |
| Gm5698 |
T |
C |
1: 31,016,560 (GRCm39) |
T164A |
probably benign |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,497,956 (GRCm39) |
T76A |
probably benign |
Het |
| Htra3 |
A |
T |
5: 35,828,472 (GRCm39) |
L136H |
probably benign |
Het |
| Ifitm10 |
G |
A |
7: 141,882,335 (GRCm39) |
T145I |
possibly damaging |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Kcnd3 |
C |
A |
3: 105,575,541 (GRCm39) |
T555K |
possibly damaging |
Het |
| Kif13b |
C |
T |
14: 65,037,849 (GRCm39) |
T1505I |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 12,930,099 (GRCm39) |
G40C |
probably damaging |
Het |
| Mettl3 |
A |
T |
14: 52,537,363 (GRCm39) |
I102N |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,418,853 (GRCm39) |
T3933I |
possibly damaging |
Het |
| Mus81 |
G |
A |
19: 5,535,389 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Mypn |
C |
A |
10: 63,028,961 (GRCm39) |
R34L |
probably benign |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Or4f56 |
T |
C |
2: 111,703,831 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,678 (GRCm39) |
V197A |
probably benign |
Het |
| Or9g3 |
G |
A |
2: 85,589,797 (GRCm39) |
P308S |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rnf5 |
A |
G |
17: 34,820,906 (GRCm39) |
|
probably null |
Het |
| Sacs |
C |
A |
14: 61,421,410 (GRCm39) |
Q116K |
probably damaging |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Senp6 |
T |
G |
9: 79,999,568 (GRCm39) |
I74S |
probably benign |
Het |
| Slc13a4 |
T |
A |
6: 35,264,827 (GRCm39) |
T131S |
probably damaging |
Het |
| Slc9a4 |
C |
A |
1: 40,623,130 (GRCm39) |
P123Q |
probably damaging |
Het |
| Stxbp4 |
T |
A |
11: 90,426,441 (GRCm39) |
|
probably null |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,604,296 (GRCm39) |
|
probably benign |
Het |
| Txnl4b |
C |
T |
8: 110,299,409 (GRCm39) |
A123V |
probably damaging |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
| Zfp26 |
A |
T |
9: 20,349,098 (GRCm39) |
C489S |
probably damaging |
Het |
| Zfp804b |
G |
A |
5: 6,820,153 (GRCm39) |
T934M |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGTATCAGACAGCACTGC -3'
(R):5'- ATGCCATCAATGAAAACAGCTG -3'
Sequencing Primer
(F):5'- AGCCAATTATCTGTTAGGTGCAG -3'
(R):5'- GCAAATACTGCGTGAGTACCTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation