Incidental Mutation 'R6283:Swt1'
ID |
508028 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Swt1
|
Ensembl Gene |
ENSMUSG00000052748 |
Gene Name |
SWT1 RNA endoribonuclease homolog (S. cerevisiae) |
Synonyms |
1200016B10Rik |
MMRRC Submission |
044453-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R6283 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
151243450-151304206 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 151260084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 772
(S772P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067516
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064771]
[ENSMUST00000111883]
|
AlphaFold |
Q9DBQ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064771
AA Change: S772P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000067516 Gene: ENSMUSG00000052748 AA Change: S772P
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
C |
A |
8: 123,512,694 (GRCm39) |
R372S |
probably damaging |
Het |
Adamts20 |
A |
G |
15: 94,249,602 (GRCm39) |
S472P |
probably benign |
Het |
Bhlhe40 |
T |
C |
6: 108,641,992 (GRCm39) |
L312P |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,902,486 (GRCm39) |
E305G |
possibly damaging |
Het |
Ccdc83 |
T |
A |
7: 89,885,615 (GRCm39) |
R257* |
probably null |
Het |
Cd209e |
G |
A |
8: 3,899,212 (GRCm39) |
Q167* |
probably null |
Het |
Cd300e |
G |
A |
11: 114,945,380 (GRCm39) |
T138I |
probably benign |
Het |
Ces2c |
A |
T |
8: 105,576,331 (GRCm39) |
M115L |
probably benign |
Het |
Cfap61 |
T |
A |
2: 145,971,022 (GRCm39) |
|
probably null |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Cic |
C |
T |
7: 24,985,459 (GRCm39) |
S301L |
probably damaging |
Het |
Cks2 |
A |
G |
13: 51,799,495 (GRCm39) |
H16R |
probably benign |
Het |
Copa |
A |
T |
1: 171,946,415 (GRCm39) |
H953L |
possibly damaging |
Het |
Ctdsp2 |
T |
C |
10: 126,831,749 (GRCm39) |
V145A |
possibly damaging |
Het |
Cyp2j13 |
A |
G |
4: 95,945,074 (GRCm39) |
V377A |
possibly damaging |
Het |
Dhx57 |
A |
G |
17: 80,582,234 (GRCm39) |
V404A |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,598,152 (GRCm39) |
S340G |
probably damaging |
Het |
Ggps1 |
A |
G |
13: 14,232,379 (GRCm39) |
|
probably null |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm11444 |
T |
C |
11: 85,737,617 (GRCm39) |
|
probably null |
Het |
Grina |
A |
G |
15: 76,132,751 (GRCm39) |
T173A |
possibly damaging |
Het |
Hcrtr1 |
G |
A |
4: 130,029,133 (GRCm39) |
T223I |
probably benign |
Het |
Igsf10 |
T |
A |
3: 59,226,870 (GRCm39) |
T2268S |
probably damaging |
Het |
Inhca |
G |
A |
9: 103,159,834 (GRCm39) |
R14* |
probably null |
Het |
Ino80d |
C |
T |
1: 63,101,285 (GRCm39) |
R447Q |
probably damaging |
Het |
Inpp4b |
C |
T |
8: 82,497,462 (GRCm39) |
T94M |
probably damaging |
Het |
Itga2 |
A |
G |
13: 115,005,786 (GRCm39) |
Y465H |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,900,767 (GRCm39) |
T823A |
probably damaging |
Het |
Krtap4-16 |
A |
G |
11: 99,741,861 (GRCm39) |
S180P |
unknown |
Het |
Ldc1 |
A |
G |
4: 130,115,534 (GRCm39) |
S5P |
probably benign |
Het |
Lpar6 |
A |
T |
14: 73,476,297 (GRCm39) |
D86V |
probably damaging |
Het |
Muc5ac |
C |
A |
7: 141,370,601 (GRCm39) |
C2500* |
probably null |
Het |
Mzf1 |
T |
C |
7: 12,787,296 (GRCm39) |
|
probably benign |
Het |
Or4f58 |
A |
C |
2: 111,851,605 (GRCm39) |
M198R |
possibly damaging |
Het |
Or5d46 |
T |
A |
2: 88,170,002 (GRCm39) |
I31N |
probably benign |
Het |
Or5m3 |
G |
T |
2: 85,838,443 (GRCm39) |
V108L |
possibly damaging |
Het |
Or7a36 |
T |
C |
10: 78,820,113 (GRCm39) |
V163A |
probably benign |
Het |
Otogl |
T |
G |
10: 107,626,361 (GRCm39) |
E1501A |
probably damaging |
Het |
Pcdh10 |
T |
A |
3: 45,335,989 (GRCm39) |
S768T |
possibly damaging |
Het |
Pcnx2 |
G |
T |
8: 126,604,325 (GRCm39) |
Q644K |
probably damaging |
Het |
Pdzd9 |
T |
A |
7: 120,259,449 (GRCm39) |
I180F |
possibly damaging |
Het |
Pinx1 |
A |
C |
14: 64,115,621 (GRCm39) |
N152T |
probably benign |
Het |
Prr14l |
T |
C |
5: 32,987,608 (GRCm39) |
E629G |
probably benign |
Het |
Qpctl |
T |
A |
7: 18,882,345 (GRCm39) |
I104F |
probably benign |
Het |
Rabep1 |
C |
T |
11: 70,808,505 (GRCm39) |
A444V |
probably damaging |
Het |
Rnf150 |
A |
G |
8: 83,717,183 (GRCm39) |
Y230C |
probably damaging |
Het |
Slc25a27 |
A |
C |
17: 43,968,621 (GRCm39) |
V152G |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,701 (GRCm39) |
T1711A |
probably benign |
Het |
Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
Tmem265 |
T |
G |
7: 127,164,044 (GRCm39) |
V86G |
possibly damaging |
Het |
Trpm8 |
C |
T |
1: 88,276,054 (GRCm39) |
H551Y |
probably benign |
Het |
Ttc6 |
T |
G |
12: 57,749,048 (GRCm39) |
Y1327D |
possibly damaging |
Het |
Uevld |
G |
T |
7: 46,587,729 (GRCm39) |
Q324K |
possibly damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r73 |
C |
T |
7: 85,521,049 (GRCm39) |
M306I |
probably benign |
Het |
Vmn2r93 |
T |
A |
17: 18,524,366 (GRCm39) |
M120K |
probably benign |
Het |
Zfp804b |
T |
A |
5: 6,819,908 (GRCm39) |
I1016F |
probably benign |
Het |
Zfp90 |
T |
C |
8: 107,152,026 (GRCm39) |
C580R |
probably 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 |
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 |
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'- GTGACCTATGCAAGCAACGC -3'
(R):5'- TGTTTCCTCAGTTGCTAGTGAAAG -3'
Sequencing Primer
(F):5'- CAGAATCACCTGGAGATTTTGG -3'
(R):5'- CAGTTGCTAGTGAAAGATTGATATGC -3'
|
Posted On |
2018-03-15 |