Incidental Mutation 'R1037:Swt1'
| ID |
93832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Swt1
|
| Ensembl Gene |
ENSMUSG00000052748 |
| Gene Name |
SWT1 RNA endoribonuclease homolog (S. cerevisiae) |
| Synonyms |
|
| MMRRC Submission |
039136-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R1037 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151367699-151428455 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 151370569 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064771]
[ENSMUST00000111883]
|
| AlphaFold |
Q9DBQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064771
|
| SMART Domains |
Protein: ENSMUSP00000067516
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 |
|
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: ENSMUST00000124880
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.1%
- 10x: 94.3%
- 20x: 85.9%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 105,709,512 (GRCm38) |
S139G |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,438,228 (GRCm38) |
|
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,825,657 (GRCm38) |
N610I |
probably benign |
Het |
| Ahnak |
T |
C |
19: 9,007,618 (GRCm38) |
F2089L |
probably benign |
Het |
| Cacnb1 |
T |
C |
11: 98,005,017 (GRCm38) |
|
probably benign |
Het |
| Cep57 |
T |
C |
9: 13,818,979 (GRCm38) |
I61V |
possibly damaging |
Het |
| Ckap5 |
T |
C |
2: 91,550,629 (GRCm38) |
I110T |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,896,634 (GRCm38) |
|
probably benign |
Het |
| Col11a1 |
A |
C |
3: 114,194,152 (GRCm38) |
E265A |
probably damaging |
Het |
| Cst13 |
A |
G |
2: 148,830,331 (GRCm38) |
|
probably benign |
Het |
| Cyp24a1 |
G |
A |
2: 170,491,617 (GRCm38) |
T272M |
probably damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,489,996 (GRCm38) |
L415R |
probably damaging |
Het |
| Dbnl |
T |
C |
11: 5,796,807 (GRCm38) |
F179S |
probably damaging |
Het |
| Eepd1 |
T |
C |
9: 25,586,783 (GRCm38) |
L388P |
possibly damaging |
Het |
| Exosc8 |
G |
T |
3: 54,732,738 (GRCm38) |
A55E |
probably damaging |
Het |
| Fam72a |
G |
A |
1: 131,533,819 (GRCm38) |
V81I |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,809,451 (GRCm38) |
M2182I |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,714,463 (GRCm38) |
P2234S |
probably damaging |
Het |
| Grn |
C |
A |
11: 102,433,070 (GRCm38) |
D33E |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,251,165 (GRCm38) |
|
probably benign |
Het |
| H2bc15 |
T |
A |
13: 21,754,247 (GRCm38) |
V42E |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,072,350 (GRCm38) |
Q229R |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,650,068 (GRCm38) |
E308G |
probably damaging |
Het |
| Kmo |
C |
T |
1: 175,651,618 (GRCm38) |
P240L |
possibly damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,629,985 (GRCm38) |
M319V |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,357,354 (GRCm38) |
I672M |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,659,460 (GRCm38) |
G42S |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,965,461 (GRCm38) |
L223P |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,674,453 (GRCm38) |
K554E |
probably benign |
Het |
| Nup160 |
C |
T |
2: 90,693,902 (GRCm38) |
T383I |
probably damaging |
Het |
| Opcml |
T |
A |
9: 28,903,299 (GRCm38) |
D290E |
probably damaging |
Het |
| Or10a3b |
T |
A |
7: 108,845,984 (GRCm38) |
T9S |
probably benign |
Het |
| Or4a27 |
T |
A |
2: 88,729,032 (GRCm38) |
D189V |
probably damaging |
Het |
| Or5ac19 |
C |
T |
16: 59,268,944 (GRCm38) |
C241Y |
probably damaging |
Het |
| Or5d38 |
A |
G |
2: 88,124,229 (GRCm38) |
I252T |
probably damaging |
Het |
| Or5k14 |
T |
C |
16: 58,872,970 (GRCm38) |
Y60C |
probably damaging |
Het |
| Palm3 |
C |
A |
8: 84,029,272 (GRCm38) |
T471K |
probably benign |
Het |
| Prl2c5 |
T |
A |
13: 13,185,907 (GRCm38) |
L50* |
probably null |
Het |
| Pzp |
T |
C |
6: 128,519,426 (GRCm38) |
N281S |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,760,555 (GRCm38) |
Y1722C |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,869,108 (GRCm38) |
V879A |
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,393,912 (GRCm38) |
S736P |
possibly damaging |
Het |
| Septin5 |
G |
A |
16: 18,623,094 (GRCm38) |
|
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,649,248 (GRCm38) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,103,117 (GRCm38) |
T1976S |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,797,481 (GRCm38) |
W853R |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 118,123,051 (GRCm38) |
Q983L |
probably damaging |
Het |
| Tmem191 |
A |
G |
16: 17,276,483 (GRCm38) |
|
probably benign |
Het |
| Tmprss11g |
A |
T |
5: 86,490,747 (GRCm38) |
V294D |
probably damaging |
Het |
| Tor1aip2 |
A |
G |
1: 156,065,336 (GRCm38) |
S463G |
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,196,318 (GRCm38) |
|
probably benign |
Het |
| Ttc1 |
A |
G |
11: 43,730,499 (GRCm38) |
V285A |
possibly damaging |
Het |
| Uckl1 |
C |
T |
2: 181,572,485 (GRCm38) |
R303H |
possibly damaging |
Het |
| Vwa8 |
C |
A |
14: 79,086,654 (GRCm38) |
C1132* |
probably null |
Het |
|
| Other mutations in Swt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Swt1
|
APN |
1 |
151,411,139 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01622:Swt1
|
APN |
1 |
151,411,009 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01623:Swt1
|
APN |
1 |
151,411,009 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01672:Swt1
|
APN |
1 |
151,394,608 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01693:Swt1
|
APN |
1 |
151,422,104 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02203:Swt1
|
APN |
1 |
151,370,626 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03223:Swt1
|
APN |
1 |
151,379,419 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0124:Swt1
|
UTSW |
1 |
151,391,529 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0496:Swt1
|
UTSW |
1 |
151,411,270 (GRCm38) |
missense |
probably benign |
|
|
R1171:Swt1
|
UTSW |
1 |
151,405,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1270:Swt1
|
UTSW |
1 |
151,384,391 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1883:Swt1
|
UTSW |
1 |
151,423,533 (GRCm38) |
nonsense |
probably null |
|
|
R2051:Swt1
|
UTSW |
1 |
151,372,330 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2110:Swt1
|
UTSW |
1 |
151,403,885 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2185:Swt1
|
UTSW |
1 |
151,384,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3688:Swt1
|
UTSW |
1 |
151,391,489 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3785:Swt1
|
UTSW |
1 |
151,379,404 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4074:Swt1
|
UTSW |
1 |
151,394,769 (GRCm38) |
missense |
probably benign |
|
|
R4157:Swt1
|
UTSW |
1 |
151,403,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4660:Swt1
|
UTSW |
1 |
151,407,597 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4761:Swt1
|
UTSW |
1 |
151,401,102 (GRCm38) |
missense |
probably benign |
0.43 |
|
R4972:Swt1
|
UTSW |
1 |
151,423,542 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5141:Swt1
|
UTSW |
1 |
151,411,394 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5227:Swt1
|
UTSW |
1 |
151,402,976 (GRCm38) |
nonsense |
probably null |
|
|
R5400:Swt1
|
UTSW |
1 |
151,412,834 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5580:Swt1
|
UTSW |
1 |
151,384,455 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5912:Swt1
|
UTSW |
1 |
151,411,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5945:Swt1
|
UTSW |
1 |
151,411,170 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5973:Swt1
|
UTSW |
1 |
151,402,949 (GRCm38) |
splice site |
probably null |
|
|
R5979:Swt1
|
UTSW |
1 |
151,407,588 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6242:Swt1
|
UTSW |
1 |
151,407,614 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6283:Swt1
|
UTSW |
1 |
151,384,333 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6951:Swt1
|
UTSW |
1 |
151,397,268 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7009:Swt1
|
UTSW |
1 |
151,370,630 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7165:Swt1
|
UTSW |
1 |
151,388,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7214:Swt1
|
UTSW |
1 |
151,394,613 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7403:Swt1
|
UTSW |
1 |
151,388,693 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7439:Swt1
|
UTSW |
1 |
151,411,064 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7441:Swt1
|
UTSW |
1 |
151,411,064 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7571:Swt1
|
UTSW |
1 |
151,394,719 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8028:Swt1
|
UTSW |
1 |
151,384,497 (GRCm38) |
missense |
probably benign |
0.26 |
|
R8225:Swt1
|
UTSW |
1 |
151,422,108 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9075:Swt1
|
UTSW |
1 |
151,370,494 (GRCm38) |
intron |
probably benign |
|
|
R9100:Swt1
|
UTSW |
1 |
151,423,505 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9135:Swt1
|
UTSW |
1 |
151,368,488 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9291:Swt1
|
UTSW |
1 |
151,410,943 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9292:Swt1
|
UTSW |
1 |
151,403,036 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9368:Swt1
|
UTSW |
1 |
151,411,016 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
X0062:Swt1
|
UTSW |
1 |
151,411,439 (GRCm38) |
missense |
probably benign |
0.43 |
|
Z1176:Swt1
|
UTSW |
1 |
151,388,685 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGATAAACTAACAGGCTTTCTGCAT -3'
(R):5'- CAGTCACTGAACTTCTTCCTGTCATTGA -3'
Sequencing Primer
(F):5'- aggaggtggagacaggaag -3'
(R):5'- TGCCTGGAGAGCTGAAATTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation