Incidental Mutation 'R7441:Swt1'
| ID |
576934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Swt1
|
| Ensembl Gene |
ENSMUSG00000052748 |
| Gene Name |
SWT1 RNA endoribonuclease homolog (S. cerevisiae) |
| Synonyms |
1200016B10Rik |
| MMRRC Submission |
045517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R7441 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
151243450-151304206 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 151286815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 226
(F226I)
|
| 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: F226I
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: F226I
| 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: F226I
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107514
Gene: ENSMUSG00000052748
AA Change: F226I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
C |
2: 151,314,845 (GRCm39) |
S278A |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,251,554 (GRCm39) |
D411G |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,871,987 (GRCm39) |
I894V |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,273,069 (GRCm39) |
V1230I |
probably benign |
Het |
| Agpat1 |
T |
A |
17: 34,829,883 (GRCm39) |
Y77N |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,477,392 (GRCm39) |
V725A |
possibly damaging |
Het |
| Apc |
T |
A |
18: 34,445,126 (GRCm39) |
I674K |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,551,262 (GRCm39) |
R808G |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,002,105 (GRCm39) |
V402A |
probably damaging |
Het |
| Aspg |
T |
C |
12: 112,091,255 (GRCm39) |
V479A |
possibly damaging |
Het |
| B3galnt2 |
G |
A |
13: 14,169,070 (GRCm39) |
V368M |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,177,132 (GRCm39) |
S2007P |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,087,254 (GRCm39) |
I1212N |
possibly damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,491,124 (GRCm39) |
D675E |
probably damaging |
Het |
| Dram2 |
T |
C |
3: 106,462,503 (GRCm39) |
F4L |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,379,425 (GRCm39) |
T2057A |
probably benign |
Het |
| Dync1h1 |
T |
G |
12: 110,602,887 (GRCm39) |
L2176R |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,708,549 (GRCm39) |
I707N |
possibly damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,302,377 (GRCm39) |
T1555A |
probably benign |
Het |
| Erc1 |
G |
A |
6: 119,801,912 (GRCm39) |
T35I |
possibly damaging |
Het |
| Esr2 |
C |
A |
12: 76,188,168 (GRCm39) |
M363I |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,749,000 (GRCm39) |
N446I |
possibly damaging |
Het |
| Evpl |
T |
A |
11: 116,113,782 (GRCm39) |
K1303* |
probably null |
Het |
| Fam135b |
A |
T |
15: 71,335,529 (GRCm39) |
V555E |
probably damaging |
Het |
| Fam186b |
A |
G |
15: 99,177,970 (GRCm39) |
L452P |
probably benign |
Het |
| Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
| Gcc2 |
A |
G |
10: 58,092,723 (GRCm39) |
T48A |
probably benign |
Het |
| Gm6619 |
T |
G |
6: 131,467,354 (GRCm39) |
I73S |
possibly damaging |
Het |
| Gm8267 |
T |
A |
14: 44,960,397 (GRCm39) |
D116V |
probably damaging |
Het |
| Gtf3c3 |
G |
A |
1: 54,459,607 (GRCm39) |
T385M |
probably benign |
Het |
| Iqgap2 |
C |
A |
13: 95,764,584 (GRCm39) |
M1553I |
probably benign |
Het |
| Kcnk1 |
G |
T |
8: 126,722,307 (GRCm39) |
G37C |
probably damaging |
Het |
| Kifc3 |
T |
C |
8: 95,864,615 (GRCm39) |
M32V |
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,359,251 (GRCm39) |
K222N |
possibly damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,363,697 (GRCm39) |
S145P |
possibly damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,342,101 (GRCm39) |
V1279E |
probably benign |
Het |
| Niban3 |
A |
G |
8: 72,052,808 (GRCm39) |
D94G |
probably benign |
Het |
| Or11g26 |
A |
T |
14: 50,752,853 (GRCm39) |
Y64F |
probably damaging |
Het |
| Or8u9 |
T |
A |
2: 86,001,354 (GRCm39) |
D269V |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Pramel12 |
A |
G |
4: 143,145,410 (GRCm39) |
Y293C |
probably benign |
Het |
| Ptpn18 |
T |
C |
1: 34,512,416 (GRCm39) |
V407A |
probably benign |
Het |
| Ptpn9 |
T |
A |
9: 56,934,717 (GRCm39) |
Y160* |
probably null |
Het |
| Ptprj |
T |
C |
2: 90,280,163 (GRCm39) |
K1045R |
possibly damaging |
Het |
| Rundc3a |
G |
T |
11: 102,290,872 (GRCm39) |
|
probably null |
Het |
| Scn11a |
C |
T |
9: 119,587,692 (GRCm39) |
V1351I |
probably benign |
Het |
| Slc26a9 |
A |
G |
1: 131,690,556 (GRCm39) |
Y520C |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,374,867 (GRCm39) |
A245V |
probably benign |
Het |
| Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
| Taar7f |
A |
G |
10: 23,925,885 (GRCm39) |
T160A |
possibly damaging |
Het |
| Timd5 |
G |
A |
11: 46,419,382 (GRCm39) |
W66* |
probably null |
Het |
| Upf2 |
A |
T |
2: 6,023,743 (GRCm39) |
I698F |
unknown |
Het |
| Vmn2r84 |
T |
C |
10: 130,227,982 (GRCm39) |
T85A |
possibly damaging |
Het |
| Zfp426 |
T |
C |
9: 20,382,147 (GRCm39) |
E280G |
possibly damaging |
Het |
| Zfp810 |
C |
A |
9: 22,190,568 (GRCm39) |
E78* |
probably null |
Het |
| Zfp937 |
GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT |
G |
2: 150,080,630 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CCTCTCACAAACAGACTGCTTATG -3'
(R):5'- TCTAAACCTGTAGACCAGACAAAGG -3'
Sequencing Primer
(F):5'- CTCACAAACAGACTGCTTATGTGTAG -3'
(R):5'- ACAAAGGAAAAGAATTGGCCTTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation