Incidental Mutation 'R2110:Swt1'
ID |
232434 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Swt1
|
Ensembl Gene |
ENSMUSG00000052748 |
Gene Name |
SWT1 RNA endoribonuclease homolog (S. cerevisiae) |
Synonyms |
1200016B10Rik |
MMRRC Submission |
040114-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R2110 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
151243450-151304206 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 151279636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 391
(S391P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064771]
[ENSMUST00000111883]
|
AlphaFold |
Q9DBQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064771
AA Change: S391P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000067516 Gene: ENSMUSG00000052748 AA Change: S391P
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 damaging
Transcript: ENSMUST00000111883
AA Change: S391P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107514 Gene: ENSMUSG00000052748 AA Change: S391P
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 |
unknown
Transcript: ENSMUST00000129939
AA Change: S141P
|
SMART Domains |
Protein: ENSMUSP00000120483 Gene: ENSMUSG00000052748 AA Change: S141P
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330161L09Rik |
T |
C |
12: 103,373,848 (GRCm39) |
|
probably benign |
Het |
Ablim1 |
T |
C |
19: 57,032,245 (GRCm39) |
D638G |
possibly damaging |
Het |
Adam1b |
A |
G |
5: 121,638,777 (GRCm39) |
|
probably benign |
Het |
Aim2 |
T |
C |
1: 173,287,279 (GRCm39) |
M93T |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,440,151 (GRCm39) |
E414G |
possibly damaging |
Het |
Ap1b1 |
T |
C |
11: 4,965,613 (GRCm39) |
F51L |
probably damaging |
Het |
Bard1 |
T |
A |
1: 71,114,550 (GRCm39) |
K144* |
probably null |
Het |
Begain |
G |
T |
12: 108,999,843 (GRCm39) |
Y514* |
probably null |
Het |
Ccdc186 |
A |
T |
19: 56,788,574 (GRCm39) |
I545N |
possibly damaging |
Het |
Cfap251 |
G |
A |
5: 123,392,438 (GRCm39) |
|
probably benign |
Het |
Cfap43 |
T |
C |
19: 47,824,197 (GRCm39) |
Y58C |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,722,229 (GRCm39) |
D2437E |
unknown |
Het |
Chd2 |
A |
G |
7: 73,079,735 (GRCm39) |
S1722P |
probably benign |
Het |
Clec5a |
C |
T |
6: 40,562,137 (GRCm39) |
G9E |
probably damaging |
Het |
Cog4 |
A |
G |
8: 111,585,214 (GRCm39) |
Y292C |
possibly damaging |
Het |
Col3a1 |
C |
T |
1: 45,369,305 (GRCm39) |
P331S |
unknown |
Het |
Ctsk |
T |
C |
3: 95,413,988 (GRCm39) |
I245T |
probably benign |
Het |
Dthd1 |
T |
C |
5: 62,979,251 (GRCm39) |
Y304H |
probably damaging |
Het |
Dthd1 |
T |
C |
5: 63,000,222 (GRCm39) |
S515P |
probably damaging |
Het |
Dtx2 |
C |
T |
5: 136,059,431 (GRCm39) |
S493F |
probably damaging |
Het |
Eci2 |
A |
G |
13: 35,174,699 (GRCm39) |
|
probably null |
Het |
Ecm1 |
C |
T |
3: 95,643,254 (GRCm39) |
A349T |
probably benign |
Het |
Efemp2 |
A |
G |
19: 5,525,190 (GRCm39) |
E32G |
probably damaging |
Het |
Flt4 |
C |
A |
11: 49,516,131 (GRCm39) |
T78K |
probably benign |
Het |
Foxg1 |
A |
G |
12: 49,431,708 (GRCm39) |
|
probably benign |
Het |
Fv1 |
T |
C |
4: 147,954,619 (GRCm39) |
V395A |
possibly damaging |
Het |
Gcfc2 |
C |
A |
6: 81,900,759 (GRCm39) |
D24E |
probably benign |
Het |
Gpha2 |
T |
G |
19: 6,277,532 (GRCm39) |
V96G |
probably damaging |
Het |
Gse1 |
A |
G |
8: 121,293,719 (GRCm39) |
Y228C |
probably damaging |
Het |
Hmgxb3 |
T |
C |
18: 61,288,458 (GRCm39) |
R470G |
possibly damaging |
Het |
Ildr1 |
A |
G |
16: 36,542,341 (GRCm39) |
E247G |
probably damaging |
Het |
Ktn1 |
T |
A |
14: 47,931,345 (GRCm39) |
M646K |
possibly damaging |
Het |
Lrrc37a |
T |
A |
11: 103,388,648 (GRCm39) |
H2259L |
unknown |
Het |
Map1b |
A |
T |
13: 99,567,629 (GRCm39) |
H1697Q |
unknown |
Het |
Mdn1 |
A |
G |
4: 32,700,409 (GRCm39) |
E1456G |
probably damaging |
Het |
Mta1 |
C |
T |
12: 113,095,248 (GRCm39) |
T467I |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
Ncoa5 |
C |
A |
2: 164,854,838 (GRCm39) |
D95Y |
possibly damaging |
Het |
Nfatc1 |
A |
T |
18: 80,678,879 (GRCm39) |
C836* |
probably null |
Het |
Nr3c2 |
T |
C |
8: 77,635,156 (GRCm39) |
S86P |
possibly damaging |
Het |
Nup153 |
A |
G |
13: 46,837,404 (GRCm39) |
S1273P |
probably benign |
Het |
Or8g52 |
G |
A |
9: 39,631,018 (GRCm39) |
R165Q |
probably benign |
Het |
Pcsk5 |
C |
A |
19: 17,450,423 (GRCm39) |
G1142C |
probably damaging |
Het |
Pgghg |
A |
G |
7: 140,523,453 (GRCm39) |
D244G |
possibly damaging |
Het |
Polr1has |
T |
C |
17: 37,276,336 (GRCm39) |
V306A |
possibly damaging |
Het |
Ppargc1b |
G |
A |
18: 61,444,321 (GRCm39) |
P297S |
probably benign |
Het |
Rad52 |
A |
T |
6: 119,897,855 (GRCm39) |
Q356L |
possibly damaging |
Het |
Rhpn1 |
T |
A |
15: 75,585,083 (GRCm39) |
F507I |
probably damaging |
Het |
Rhpn2 |
T |
C |
7: 35,076,433 (GRCm39) |
M328T |
probably benign |
Het |
Rnf19a |
T |
C |
15: 36,254,665 (GRCm39) |
I298V |
possibly damaging |
Het |
Rwdd2a |
T |
C |
9: 86,456,184 (GRCm39) |
V120A |
probably benign |
Het |
Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
Serpina3a |
G |
A |
12: 104,082,481 (GRCm39) |
A85T |
probably damaging |
Het |
Slc16a11 |
G |
A |
11: 70,106,146 (GRCm39) |
G80D |
probably damaging |
Het |
Slc5a5 |
A |
T |
8: 71,342,395 (GRCm39) |
|
probably null |
Het |
Sparcl1 |
T |
A |
5: 104,236,289 (GRCm39) |
Q488L |
probably damaging |
Het |
Spg21 |
T |
A |
9: 65,391,711 (GRCm39) |
|
probably null |
Het |
Spopfm2 |
A |
G |
3: 94,082,834 (GRCm39) |
S326P |
probably damaging |
Het |
Sry |
T |
C |
Y: 2,662,901 (GRCm39) |
H253R |
unknown |
Het |
Uhrf2 |
A |
G |
19: 30,033,888 (GRCm39) |
Y200C |
probably damaging |
Het |
Utp15 |
T |
C |
13: 98,391,493 (GRCm39) |
H248R |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,603,313 (GRCm39) |
|
probably null |
Het |
Vcan |
T |
A |
13: 89,841,422 (GRCm39) |
D414V |
probably damaging |
Het |
Vmn1r56 |
A |
T |
7: 5,199,179 (GRCm39) |
M146K |
probably damaging |
Het |
Zfp143 |
A |
T |
7: 109,685,453 (GRCm39) |
K399N |
probably damaging |
Het |
Zfp516 |
A |
G |
18: 82,975,536 (GRCm39) |
D578G |
probably damaging |
Het |
Zfp90 |
G |
A |
8: 107,152,120 (GRCm39) |
C611Y |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGATGCTAGAGTATGACTGTGAG -3'
(R):5'- ACTGGAAAGAAATTTATGTGGCAGC -3'
Sequencing Primer
(F):5'- TGCTAGAGTATGACTGTGAGAAAATC -3'
(R):5'- TAGGCCAGTCAGTTAGTCAGC -3'
|
Posted On |
2014-09-18 |