Incidental Mutation 'R4761:Swt1'
| ID |
356858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Swt1
|
| Ensembl Gene |
ENSMUSG00000052748 |
| Gene Name |
SWT1 RNA endoribonuclease homolog (S. cerevisiae) |
| Synonyms |
1200016B10Rik |
| MMRRC Submission |
042402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R4761 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151243450-151304206 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 151276853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 508
(C508G)
|
| 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: C508G
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: C508G
| 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: C508G
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107514
Gene: ENSMUSG00000052748
AA Change: C508G
| 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 |
probably benign
Transcript: ENSMUST00000141977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189595
|
| Meta Mutation Damage Score |
0.0716 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
G |
9: 101,820,165 (GRCm39) |
D195G |
possibly damaging |
Het |
| Abcc8 |
G |
A |
7: 45,762,499 (GRCm39) |
R1221C |
probably damaging |
Het |
| Adra1a |
T |
A |
14: 66,964,880 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
A |
T |
13: 4,497,010 (GRCm39) |
M98L |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,753,916 (GRCm39) |
Q1632R |
probably damaging |
Het |
| Arhgap24 |
G |
T |
5: 102,812,080 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,308,504 (GRCm39) |
*40W |
probably null |
Het |
| Bdkrb2 |
A |
T |
12: 105,554,537 (GRCm39) |
M17L |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,581,158 (GRCm39) |
K117R |
possibly damaging |
Het |
| Cacng3 |
A |
T |
7: 122,367,887 (GRCm39) |
T256S |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,464,240 (GRCm39) |
|
probably benign |
Het |
| Ces2b |
T |
A |
8: 105,563,193 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
T |
A |
9: 79,564,592 (GRCm39) |
D1696V |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dcst1 |
A |
T |
3: 89,264,860 (GRCm39) |
M296K |
possibly damaging |
Het |
| Ehbp1l1 |
G |
A |
19: 5,769,875 (GRCm39) |
P476L |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,517,849 (GRCm39) |
V858A |
possibly damaging |
Het |
| Ermp1 |
T |
A |
19: 29,623,656 (GRCm39) |
E55D |
probably benign |
Het |
| Eya1 |
G |
A |
1: 14,373,045 (GRCm39) |
L25F |
probably damaging |
Het |
| Foxn2 |
T |
A |
17: 88,770,136 (GRCm39) |
|
probably null |
Het |
| Gabrb3 |
A |
T |
7: 57,415,250 (GRCm39) |
T107S |
probably damaging |
Het |
| Gm26678 |
A |
T |
3: 54,540,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7897 |
G |
T |
1: 173,657,536 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9789 |
A |
T |
16: 88,954,915 (GRCm39) |
Y8F |
unknown |
Het |
| Gsta3 |
A |
T |
1: 21,330,381 (GRCm39) |
T78S |
probably benign |
Het |
| H2-Ab1 |
A |
G |
17: 34,486,474 (GRCm39) |
N178D |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,639,885 (GRCm39) |
V1000I |
probably benign |
Het |
| Hrnr |
A |
C |
3: 93,230,062 (GRCm39) |
K100T |
probably damaging |
Het |
| Ift57 |
T |
C |
16: 49,522,263 (GRCm39) |
F2L |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,756,981 (GRCm39) |
V232A |
probably benign |
Het |
| Kmt2a |
C |
A |
9: 44,760,421 (GRCm39) |
R509L |
probably damaging |
Het |
| Lefty1 |
T |
A |
1: 180,765,190 (GRCm39) |
C253S |
probably benign |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Mfsd9 |
T |
C |
1: 40,813,635 (GRCm39) |
K227E |
possibly damaging |
Het |
| Mrps2 |
C |
G |
2: 28,359,946 (GRCm39) |
H268D |
probably benign |
Het |
| Mrps27 |
T |
A |
13: 99,548,739 (GRCm39) |
S292T |
probably benign |
Het |
| Ncaph |
T |
C |
2: 126,948,036 (GRCm39) |
D683G |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,781,514 (GRCm39) |
S632T |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,034,872 (GRCm39) |
T198A |
possibly damaging |
Het |
| Oasl2 |
C |
T |
5: 115,037,836 (GRCm39) |
H78Y |
probably benign |
Het |
| Or8b54 |
T |
C |
9: 38,687,133 (GRCm39) |
V194A |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
| Pdgfrb |
C |
A |
18: 61,212,772 (GRCm39) |
S892Y |
probably damaging |
Het |
| Phf8-ps |
A |
T |
17: 33,286,172 (GRCm39) |
V210D |
probably damaging |
Het |
| Por |
T |
G |
5: 135,754,784 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5e |
A |
T |
12: 75,640,035 (GRCm39) |
V22D |
possibly damaging |
Het |
| Prcp |
A |
G |
7: 92,566,933 (GRCm39) |
|
probably null |
Het |
| Ptchd3 |
A |
T |
11: 121,727,224 (GRCm39) |
N366I |
possibly damaging |
Het |
| Rprd1b |
A |
G |
2: 157,889,890 (GRCm39) |
E4G |
probably damaging |
Het |
| Semp2l1 |
A |
T |
1: 32,585,588 (GRCm39) |
S107R |
possibly damaging |
Het |
| Serpinb6d |
C |
A |
13: 33,855,250 (GRCm39) |
S308Y |
probably damaging |
Het |
| Slc12a7 |
T |
C |
13: 73,961,708 (GRCm39) |
V1026A |
probably benign |
Het |
| Slc17a7 |
G |
A |
7: 44,820,408 (GRCm39) |
V313I |
probably benign |
Het |
| Slc35c1 |
T |
A |
2: 92,289,168 (GRCm39) |
M113L |
probably damaging |
Het |
| Smgc |
A |
G |
15: 91,729,717 (GRCm39) |
T178A |
possibly damaging |
Het |
| Spef2 |
A |
T |
15: 9,653,040 (GRCm39) |
W914R |
probably damaging |
Het |
| Srfbp1 |
C |
A |
18: 52,621,638 (GRCm39) |
P233Q |
probably damaging |
Het |
| Tex22 |
T |
C |
12: 113,052,386 (GRCm39) |
V148A |
possibly damaging |
Het |
| Tle7 |
A |
T |
8: 110,836,753 (GRCm39) |
D213V |
probably damaging |
Het |
| Tpd52 |
G |
A |
3: 9,028,933 (GRCm39) |
P37L |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,796,230 (GRCm39) |
Y145C |
probably damaging |
Het |
| Vmn1r197 |
A |
T |
13: 22,512,174 (GRCm39) |
M32L |
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,741,630 (GRCm39) |
F114S |
possibly damaging |
Het |
| Xdh |
T |
A |
17: 74,217,262 (GRCm39) |
I669F |
possibly damaging |
Het |
| Zfp940 |
G |
A |
7: 29,545,578 (GRCm39) |
R110C |
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 |
|
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 |
|
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'- CCCAAATTTACTGCAGAAGAGGC -3'
(R):5'- GAGCTATTGTCCCAGTCTACCC -3'
Sequencing Primer
(F):5'- GGCACTCATGACATAAGTTATCCTC -3'
(R):5'- TCTCACTCTAGCCCAGGGTAG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation