Incidental Mutation 'R6580:Smtnl2'
| ID |
524098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smtnl2
|
| Ensembl Gene |
ENSMUSG00000045667 |
| Gene Name |
smoothelin-like 2 |
| Synonyms |
D130058I21Rik |
| MMRRC Submission |
044704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6580 (G1)
|
| Quality Score |
172.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72279990-72302539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72293859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 232
(S232R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050226]
[ENSMUST00000108500]
|
| AlphaFold |
Q8CI12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050226
AA Change: S232R
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000059043
Gene: ENSMUSG00000045667
AA Change: S232R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
55 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
287 |
N/A |
INTRINSIC |
|
CH
|
348 |
448 |
3.16e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108500
AA Change: S198R
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104140
Gene: ENSMUSG00000045667
AA Change: S198R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
21 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
253 |
N/A |
INTRINSIC |
|
CH
|
314 |
414 |
3.16e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143345
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
| Ankrd49 |
A |
G |
9: 14,692,694 (GRCm39) |
S157P |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
| Cimap2 |
G |
T |
4: 106,468,711 (GRCm39) |
H271N |
possibly damaging |
Het |
| Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
| Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
| Gm45861 |
A |
G |
8: 28,034,979 (GRCm39) |
K976E |
unknown |
Het |
| Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,419 (GRCm39) |
Y298C |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,136,218 (GRCm39) |
N430S |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,177 (GRCm39) |
E563G |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
| Pierce1 |
A |
G |
2: 28,356,062 (GRCm39) |
W74R |
probably damaging |
Het |
| Polr3c |
A |
G |
3: 96,634,659 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
| Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,212 (GRCm39) |
I131T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,553,328 (GRCm39) |
L384P |
probably damaging |
Het |
|
| Other mutations in Smtnl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Smtnl2
|
APN |
11 |
72,294,085 (GRCm39) |
splice site |
probably benign |
|
|
IGL00948:Smtnl2
|
APN |
11 |
72,302,067 (GRCm39) |
splice site |
probably null |
|
|
IGL01310:Smtnl2
|
APN |
11 |
72,292,171 (GRCm39) |
splice site |
probably null |
|
|
IGL02277:Smtnl2
|
APN |
11 |
72,282,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0508:Smtnl2
|
UTSW |
11 |
72,293,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0784:Smtnl2
|
UTSW |
11 |
72,290,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Smtnl2
|
UTSW |
11 |
72,292,247 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1971:Smtnl2
|
UTSW |
11 |
72,302,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5094:Smtnl2
|
UTSW |
11 |
72,291,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5270:Smtnl2
|
UTSW |
11 |
72,290,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5518:Smtnl2
|
UTSW |
11 |
72,292,342 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5965:Smtnl2
|
UTSW |
11 |
72,291,279 (GRCm39) |
splice site |
probably null |
|
|
R6213:Smtnl2
|
UTSW |
11 |
72,292,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6215:Smtnl2
|
UTSW |
11 |
72,292,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Smtnl2
|
UTSW |
11 |
72,292,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Smtnl2
|
UTSW |
11 |
72,292,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7996:Smtnl2
|
UTSW |
11 |
72,291,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8392:Smtnl2
|
UTSW |
11 |
72,293,993 (GRCm39) |
missense |
probably benign |
|
|
R9140:Smtnl2
|
UTSW |
11 |
72,290,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9256:Smtnl2
|
UTSW |
11 |
72,293,835 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Smtnl2
|
UTSW |
11 |
72,302,537 (GRCm39) |
utr 5 prime |
probably benign |
|
|
Z1177:Smtnl2
|
UTSW |
11 |
72,292,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTATCTCTGGAAAGGAATGTG -3'
(R):5'- TGTTACAGGTCCAGCCAACG -3'
Sequencing Primer
(F):5'- TATCTCTGGAAAGGAATGTGGTAAG -3'
(R):5'- GGATCCTCTGAGGTCCAAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation