Incidental Mutation 'IGL00948:Smtnl2'
| ID |
28569 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smtnl2
|
| Ensembl Gene |
ENSMUSG00000045667 |
| Gene Name |
smoothelin-like 2 |
| Synonyms |
D130058I21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL00948
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
72279990-72302539 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 72302067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050226]
[ENSMUST00000108500]
|
| AlphaFold |
Q8CI12 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050226
|
| SMART Domains |
Protein: ENSMUSP00000059043
Gene: ENSMUSG00000045667
| 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 null
Transcript: ENSMUST00000108500
|
| SMART Domains |
Protein: ENSMUSP00000104140
Gene: ENSMUSG00000045667
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccl2 |
A |
T |
11: 81,926,558 (GRCm39) |
Q24L |
possibly damaging |
Het |
| Cd33 |
G |
A |
7: 43,178,982 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,544 (GRCm39) |
I2515V |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,069,082 (GRCm39) |
T101A |
probably benign |
Het |
| Cyp4a12a |
T |
A |
4: 115,159,159 (GRCm39) |
M143K |
probably damaging |
Het |
| Ephb4 |
C |
A |
5: 137,364,921 (GRCm39) |
S663R |
probably damaging |
Het |
| Gm4847 |
T |
C |
1: 166,457,907 (GRCm39) |
D482G |
probably benign |
Het |
| Gskip |
C |
A |
12: 105,665,103 (GRCm39) |
N47K |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,582,159 (GRCm39) |
Y473C |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,867,194 (GRCm39) |
N849I |
probably damaging |
Het |
| Magel2 |
T |
A |
7: 62,029,070 (GRCm39) |
V658E |
unknown |
Het |
| Nmral1 |
C |
T |
16: 4,534,270 (GRCm39) |
G57E |
probably damaging |
Het |
| Or6c211 |
A |
T |
10: 129,505,756 (GRCm39) |
L211I |
probably damaging |
Het |
| Or8b54 |
C |
T |
9: 38,687,108 (GRCm39) |
Q186* |
probably null |
Het |
| Padi3 |
C |
A |
4: 140,516,254 (GRCm39) |
R542L |
possibly damaging |
Het |
| Plrg1 |
T |
C |
3: 82,975,426 (GRCm39) |
V260A |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,240,838 (GRCm39) |
H982R |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,387,779 (GRCm39) |
T448S |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,719,620 (GRCm39) |
M4262I |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,622,696 (GRCm39) |
D441V |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,561 (GRCm39) |
E448G |
probably benign |
Het |
| Tox3 |
G |
A |
8: 90,997,062 (GRCm39) |
P66L |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,247 (GRCm39) |
F267L |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,245,541 (GRCm39) |
S64P |
possibly damaging |
Het |
| Zfp764 |
T |
C |
7: 127,004,376 (GRCm39) |
S252G |
possibly 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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation