Incidental Mutation 'R5094:Smtnl2'
| ID |
387998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smtnl2
|
| Ensembl Gene |
ENSMUSG00000045667 |
| Gene Name |
smoothelin-like 2 |
| Synonyms |
D130058I21Rik |
| MMRRC Submission |
042683-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5094 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72279990-72302539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72291211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 346
(S346C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050226]
[ENSMUST00000108500]
|
| AlphaFold |
Q8CI12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050226
AA Change: S346C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059043
Gene: ENSMUSG00000045667
AA Change: S346C
| 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 damaging
Transcript: ENSMUST00000108500
AA Change: S312C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104140
Gene: ENSMUSG00000045667
AA Change: S312C
| 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
|
| Meta Mutation Damage Score |
0.1562 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
91% (40/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
T |
15: 81,946,883 (GRCm39) |
G260V |
possibly damaging |
Het |
| Agap3 |
T |
C |
5: 24,656,319 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,709,296 (GRCm39) |
S1173P |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,532,033 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
G |
A |
15: 22,714,625 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,402,892 (GRCm39) |
K2274E |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,734,861 (GRCm39) |
|
probably benign |
Het |
| Chat |
T |
A |
14: 32,130,896 (GRCm39) |
I582F |
probably damaging |
Het |
| Chrnb4 |
T |
C |
9: 54,942,597 (GRCm39) |
I226V |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,981,730 (GRCm39) |
T139A |
probably damaging |
Het |
| Eml1 |
T |
C |
12: 108,502,570 (GRCm39) |
F712S |
probably benign |
Het |
| Fgfr1 |
C |
T |
8: 26,060,181 (GRCm39) |
S524L |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,742,306 (GRCm39) |
E208G |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,375 (GRCm39) |
D706V |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,865,443 (GRCm39) |
V639D |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,007,893 (GRCm39) |
F1497S |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,293,554 (GRCm39) |
D612G |
probably benign |
Het |
| Ifit3b |
T |
A |
19: 34,589,948 (GRCm39) |
S375T |
possibly damaging |
Het |
| Mucl1 |
A |
G |
15: 103,785,669 (GRCm39) |
S13P |
possibly damaging |
Het |
| Or5w12 |
C |
T |
2: 87,502,174 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,384 (GRCm39) |
Y149F |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,374,081 (GRCm39) |
Y78* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,605,441 (GRCm39) |
V263A |
probably benign |
Het |
| Pfdn2 |
T |
A |
1: 171,184,067 (GRCm39) |
|
probably benign |
Het |
| Phip |
C |
T |
9: 82,753,897 (GRCm39) |
V1616I |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,484,123 (GRCm39) |
S457G |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,810,044 (GRCm39) |
S97P |
probably benign |
Het |
| Slc22a6 |
T |
C |
19: 8,603,541 (GRCm39) |
L535P |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,315,624 (GRCm39) |
T548A |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,852,858 (GRCm39) |
|
probably null |
Het |
| Tlcd2 |
T |
C |
11: 75,360,640 (GRCm39) |
S228P |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,793,001 (GRCm39) |
L411P |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,611,872 (GRCm39) |
V170A |
probably benign |
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 |
|
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 |
|
R6580:Smtnl2
|
UTSW |
11 |
72,293,859 (GRCm39) |
missense |
probably benign |
0.12 |
|
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'- GGTAGCTTGGATACCACTCAGAAG -3'
(R):5'- CTAGAAAGCTGGGTGTGGCTAG -3'
Sequencing Primer
(F):5'- TTGGATACCACTCAGAAGACCTAAG -3'
(R):5'- CATGGCTGATGGGTGGCAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation