Incidental Mutation 'IGL02013:Gm28557'
ID |
183418 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm28557
|
Ensembl Gene |
ENSMUSG00000100235 |
Gene Name |
predicted gene 28557 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
IGL02013
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
67217463-67256668 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67219116 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 248
(F248L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109742]
[ENSMUST00000109743]
[ENSMUST00000186303]
[ENSMUST00000190566]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109742
AA Change: F236L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000105364 Gene: ENSMUSG00000058883 AA Change: F236L
Domain | Start | End | E-Value | Type |
KRAB
|
5 |
65 |
3.75e-28 |
SMART |
ZnF_C2H2
|
81 |
103 |
1.12e-3 |
SMART |
ZnF_C2H2
|
109 |
131 |
5.14e-3 |
SMART |
ZnF_C2H2
|
137 |
159 |
1.1e-2 |
SMART |
ZnF_C2H2
|
165 |
187 |
6.78e-3 |
SMART |
ZnF_C2H2
|
193 |
215 |
1.47e-3 |
SMART |
ZnF_C2H2
|
221 |
243 |
7.78e-3 |
SMART |
ZnF_C2H2
|
249 |
271 |
1.95e-3 |
SMART |
ZnF_C2H2
|
277 |
299 |
5.21e-4 |
SMART |
ZnF_C2H2
|
305 |
327 |
7.9e-4 |
SMART |
ZnF_C2H2
|
333 |
355 |
8.34e-3 |
SMART |
ZnF_C2H2
|
361 |
383 |
1.3e-4 |
SMART |
ZnF_C2H2
|
389 |
411 |
4.87e-4 |
SMART |
ZnF_C2H2
|
417 |
439 |
5.14e-3 |
SMART |
ZnF_C2H2
|
445 |
467 |
1.2e-3 |
SMART |
ZnF_C2H2
|
473 |
495 |
1.72e-4 |
SMART |
ZnF_C2H2
|
501 |
523 |
1.6e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109743
AA Change: F248L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000105365 Gene: ENSMUSG00000058883 AA Change: F248L
Domain | Start | End | E-Value | Type |
KRAB
|
17 |
77 |
3.75e-28 |
SMART |
ZnF_C2H2
|
93 |
115 |
1.12e-3 |
SMART |
ZnF_C2H2
|
121 |
143 |
5.14e-3 |
SMART |
ZnF_C2H2
|
149 |
171 |
1.1e-2 |
SMART |
ZnF_C2H2
|
177 |
199 |
6.78e-3 |
SMART |
ZnF_C2H2
|
205 |
227 |
1.47e-3 |
SMART |
ZnF_C2H2
|
233 |
255 |
7.78e-3 |
SMART |
ZnF_C2H2
|
261 |
283 |
1.95e-3 |
SMART |
ZnF_C2H2
|
289 |
311 |
5.21e-4 |
SMART |
ZnF_C2H2
|
317 |
339 |
7.9e-4 |
SMART |
ZnF_C2H2
|
345 |
367 |
8.34e-3 |
SMART |
ZnF_C2H2
|
373 |
395 |
1.3e-4 |
SMART |
ZnF_C2H2
|
401 |
423 |
4.87e-4 |
SMART |
ZnF_C2H2
|
429 |
451 |
5.14e-3 |
SMART |
ZnF_C2H2
|
457 |
479 |
1.2e-3 |
SMART |
ZnF_C2H2
|
485 |
507 |
1.72e-4 |
SMART |
ZnF_C2H2
|
513 |
535 |
1.6e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185856
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185954
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186303
|
SMART Domains |
Protein: ENSMUSP00000140296 Gene: ENSMUSG00000100235
Domain | Start | End | E-Value | Type |
KRAB
|
1 |
32 |
9.7e-3 |
SMART |
ZnF_C2H2
|
47 |
69 |
1.8e-6 |
SMART |
ZnF_C2H2
|
75 |
97 |
6.7e-5 |
SMART |
ZnF_C2H2
|
103 |
125 |
7.6e-6 |
SMART |
ZnF_C2H2
|
131 |
153 |
7.6e-6 |
SMART |
ZnF_C2H2
|
159 |
181 |
1.4e-7 |
SMART |
ZnF_C2H2
|
187 |
209 |
7.6e-6 |
SMART |
ZnF_C2H2
|
215 |
237 |
5.5e-5 |
SMART |
ZnF_C2H2
|
243 |
265 |
8.9e-7 |
SMART |
ZnF_C2H2
|
271 |
293 |
2e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190566
AA Change: F203L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000139928 Gene: ENSMUSG00000058883 AA Change: F203L
Domain | Start | End | E-Value | Type |
KRAB
|
1 |
32 |
1.6e-3 |
SMART |
ZnF_C2H2
|
48 |
70 |
4.7e-6 |
SMART |
ZnF_C2H2
|
76 |
98 |
2.1e-5 |
SMART |
ZnF_C2H2
|
104 |
126 |
4.6e-5 |
SMART |
ZnF_C2H2
|
132 |
154 |
2.9e-5 |
SMART |
ZnF_C2H2
|
160 |
182 |
6.3e-6 |
SMART |
ZnF_C2H2
|
188 |
210 |
3.3e-5 |
SMART |
ZnF_C2H2
|
216 |
238 |
8.2e-6 |
SMART |
ZnF_C2H2
|
244 |
266 |
2.2e-6 |
SMART |
ZnF_C2H2
|
272 |
294 |
3.4e-6 |
SMART |
ZnF_C2H2
|
300 |
322 |
3.6e-5 |
SMART |
ZnF_C2H2
|
328 |
350 |
5.5e-7 |
SMART |
ZnF_C2H2
|
356 |
378 |
2.1e-6 |
SMART |
ZnF_C2H2
|
384 |
406 |
2.1e-5 |
SMART |
ZnF_C2H2
|
412 |
434 |
5e-6 |
SMART |
ZnF_C2H2
|
440 |
462 |
7.2e-7 |
SMART |
ZnF_C2H2
|
468 |
490 |
6.8e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223904
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224641
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
A |
G |
8: 111,773,698 (GRCm39) |
Y543C |
probably damaging |
Het |
Acp4 |
G |
T |
7: 43,904,505 (GRCm39) |
T186N |
probably benign |
Het |
Adgrg6 |
T |
A |
10: 14,302,555 (GRCm39) |
M953L |
probably damaging |
Het |
Cp |
C |
A |
3: 20,042,213 (GRCm39) |
H994N |
probably damaging |
Het |
Csmd2 |
G |
A |
4: 128,215,116 (GRCm39) |
D513N |
possibly damaging |
Het |
Nup155 |
G |
T |
15: 8,143,132 (GRCm39) |
M100I |
possibly damaging |
Het |
Odad2 |
A |
G |
18: 7,265,157 (GRCm39) |
|
probably benign |
Het |
Or8b12b |
A |
G |
9: 37,684,185 (GRCm39) |
I77V |
probably benign |
Het |
Or8c11 |
G |
A |
9: 38,289,373 (GRCm39) |
M59I |
probably benign |
Het |
Pgm1 |
G |
A |
4: 99,841,158 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
G |
5: 22,155,877 (GRCm39) |
F2205S |
probably damaging |
Het |
Scmh1 |
G |
A |
4: 120,340,929 (GRCm39) |
R205Q |
possibly damaging |
Het |
Sema3e |
G |
A |
5: 14,280,207 (GRCm39) |
G362D |
probably damaging |
Het |
Sftpb |
C |
T |
6: 72,282,655 (GRCm39) |
T79I |
probably benign |
Het |
Sgcd |
C |
A |
11: 46,871,770 (GRCm39) |
|
probably benign |
Het |
Shprh |
T |
A |
10: 11,057,246 (GRCm39) |
|
probably benign |
Het |
Spmap2 |
T |
C |
10: 79,415,769 (GRCm39) |
|
probably null |
Het |
Ssc5d |
C |
T |
7: 4,946,835 (GRCm39) |
S1063F |
probably benign |
Het |
Tdrd6 |
T |
C |
17: 43,936,837 (GRCm39) |
T1404A |
probably benign |
Het |
Vmn2r67 |
G |
A |
7: 84,800,863 (GRCm39) |
P358S |
probably benign |
Het |
Wnk2 |
A |
T |
13: 49,235,510 (GRCm39) |
M635K |
possibly damaging |
Het |
Zfp474 |
C |
A |
18: 52,771,971 (GRCm39) |
A208D |
possibly damaging |
Het |
|
Other mutations in Gm28557 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01533:Gm28557
|
APN |
13 |
67,219,396 (GRCm39) |
nonsense |
probably null |
|
IGL02609:Gm28557
|
APN |
13 |
67,219,083 (GRCm39) |
nonsense |
probably null |
|
IGL02626:Gm28557
|
APN |
13 |
67,223,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-05-07 |