Incidental Mutation 'IGL02148:Gm20547'
ID |
281839 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm20547
|
Ensembl Gene |
ENSMUSG00000092511 |
Gene Name |
predicted gene 20547 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
IGL02148
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35075388-35101018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 35079524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 243
(D243N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120990
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000025230]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000154526]
[ENSMUST00000146299]
[ENSMUST00000176203]
[ENSMUST00000153400]
[ENSMUST00000173357]
[ENSMUST00000148431]
[ENSMUST00000165953]
[ENSMUST00000152417]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025229
AA Change: D245N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000025229 Gene: ENSMUSG00000090231 AA Change: D245N
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
CCP
|
36 |
88 |
5.15e-1 |
SMART |
CCP
|
102 |
157 |
4.62e-15 |
SMART |
CCP
|
164 |
217 |
2.06e-12 |
SMART |
VWA
|
267 |
472 |
1.07e-40 |
SMART |
Tryp_SPc
|
480 |
751 |
2.53e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000025230
|
SMART Domains |
Protein: ENSMUSP00000025230 Gene: ENSMUSG00000024371
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Blast:CCP
|
22 |
71 |
8e-24 |
BLAST |
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
CCP
|
94 |
149 |
1.34e-11 |
SMART |
CCP
|
156 |
210 |
1.89e-11 |
SMART |
Blast:VWA
|
219 |
245 |
1e-7 |
BLAST |
VWA
|
259 |
464 |
1.32e-31 |
SMART |
Tryp_SPc
|
468 |
747 |
4.43e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097343
|
SMART Domains |
Protein: ENSMUSP00000094956 Gene: ENSMUSG00000024369
Domain | Start | End | E-Value | Type |
coiled coil region
|
7 |
36 |
N/A |
INTRINSIC |
low complexity region
|
147 |
167 |
N/A |
INTRINSIC |
low complexity region
|
184 |
239 |
N/A |
INTRINSIC |
RRM
|
259 |
324 |
7.25e-12 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127795
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128767
AA Change: D243N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000119977 Gene: ENSMUSG00000090231 AA Change: D243N
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
CCP
|
34 |
86 |
5.15e-1 |
SMART |
CCP
|
100 |
155 |
4.62e-15 |
SMART |
CCP
|
162 |
215 |
2.06e-12 |
SMART |
VWA
|
265 |
470 |
1.07e-40 |
SMART |
Tryp_SPc
|
478 |
749 |
2.53e-30 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000129891
AA Change: D452N
|
SMART Domains |
Protein: ENSMUSP00000120864 Gene: ENSMUSG00000092511 AA Change: D452N
Domain | Start | End | E-Value | Type |
Blast:VWA
|
2 |
77 |
8e-7 |
BLAST |
Tryp_SPc
|
85 |
365 |
5.69e-8 |
SMART |
CCP
|
310 |
365 |
4.62e-15 |
SMART |
CCP
|
372 |
425 |
2.06e-12 |
SMART |
VWA
|
475 |
680 |
1.07e-40 |
SMART |
Tryp_SPc
|
688 |
959 |
2.53e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133127
|
SMART Domains |
Protein: ENSMUSP00000118360 Gene: ENSMUSG00000090231
Domain | Start | End | E-Value | Type |
PDB:2WIN|L
|
2 |
43 |
2e-20 |
PDB |
Blast:VWA
|
13 |
44 |
9e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154526
AA Change: D243N
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000120990 Gene: ENSMUSG00000090231 AA Change: D243N
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
CCP
|
34 |
86 |
5.15e-1 |
SMART |
CCP
|
100 |
155 |
4.62e-15 |
SMART |
CCP
|
162 |
215 |
2.06e-12 |
SMART |
VWA
|
265 |
470 |
1.07e-40 |
SMART |
Tryp_SPc
|
478 |
711 |
5.03e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146299
AA Change: D758N
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000117677 Gene: ENSMUSG00000092511 AA Change: D758N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
CCP
|
94 |
148 |
1.89e-11 |
SMART |
VWA
|
103 |
311 |
1.74e-1 |
SMART |
Tryp_SPc
|
315 |
547 |
1.49e-7 |
SMART |
CCP
|
549 |
601 |
5.15e-1 |
SMART |
CCP
|
615 |
670 |
4.62e-15 |
SMART |
CCP
|
677 |
730 |
2.06e-12 |
SMART |
VWA
|
780 |
985 |
1.07e-40 |
SMART |
Tryp_SPc
|
993 |
1264 |
2.53e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176203
AA Change: D245N
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000135660 Gene: ENSMUSG00000090231 AA Change: D245N
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
CCP
|
36 |
88 |
5.15e-1 |
SMART |
CCP
|
102 |
157 |
4.62e-15 |
SMART |
CCP
|
164 |
217 |
2.06e-12 |
SMART |
VWA
|
267 |
472 |
1.07e-40 |
SMART |
Tryp_SPc
|
480 |
713 |
5.03e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184774
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153400
|
SMART Domains |
Protein: ENSMUSP00000116497 Gene: ENSMUSG00000090231
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
1 |
217 |
2.36e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173357
|
SMART Domains |
Protein: ENSMUSP00000134272 Gene: ENSMUSG00000024369
Domain | Start | End | E-Value | Type |
coiled coil region
|
7 |
36 |
N/A |
INTRINSIC |
low complexity region
|
147 |
167 |
N/A |
INTRINSIC |
low complexity region
|
184 |
239 |
N/A |
INTRINSIC |
RRM
|
259 |
324 |
7.25e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134300
|
SMART Domains |
Protein: ENSMUSP00000114241 Gene: ENSMUSG00000024371
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
3 |
148 |
6.48e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148431
|
SMART Domains |
Protein: ENSMUSP00000120009 Gene: ENSMUSG00000024371
Domain | Start | End | E-Value | Type |
VWA
|
33 |
187 |
2.33e0 |
SMART |
Tryp_SPc
|
191 |
470 |
4.43e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165953
|
SMART Domains |
Protein: ENSMUSP00000131195 Gene: ENSMUSG00000024369
Domain | Start | End | E-Value | Type |
coiled coil region
|
7 |
36 |
N/A |
INTRINSIC |
low complexity region
|
147 |
167 |
N/A |
INTRINSIC |
low complexity region
|
184 |
239 |
N/A |
INTRINSIC |
RRM
|
259 |
324 |
7.25e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152417
|
SMART Domains |
Protein: ENSMUSP00000123536 Gene: ENSMUSG00000024371
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
CCP
|
19 |
73 |
1.89e-11 |
SMART |
Blast:VWA
|
82 |
108 |
2e-7 |
BLAST |
VWA
|
122 |
327 |
1.32e-31 |
SMART |
Tryp_SPc
|
331 |
610 |
4.43e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141295
|
SMART Domains |
Protein: ENSMUSP00000118945 Gene: ENSMUSG00000090231
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
18 |
258 |
3.76e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176332
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
C |
T |
4: 63,300,716 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
C |
4: 126,733,469 (GRCm39) |
V663A |
possibly damaging |
Het |
Cdh13 |
A |
G |
8: 119,925,697 (GRCm39) |
D355G |
probably damaging |
Het |
Cdyl2 |
A |
G |
8: 117,315,983 (GRCm39) |
|
probably benign |
Het |
Csnk1g3 |
C |
T |
18: 54,086,360 (GRCm39) |
R422C |
probably benign |
Het |
Dclk1 |
T |
A |
3: 55,407,520 (GRCm39) |
V233D |
probably damaging |
Het |
Ddx59 |
T |
C |
1: 136,361,565 (GRCm39) |
S477P |
probably damaging |
Het |
Epb41l1 |
A |
T |
2: 156,353,748 (GRCm39) |
|
probably benign |
Het |
Epha2 |
T |
C |
4: 141,045,835 (GRCm39) |
L453P |
probably damaging |
Het |
Esco2 |
T |
C |
14: 66,064,044 (GRCm39) |
H380R |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,669,298 (GRCm39) |
M51V |
probably benign |
Het |
Fgb |
T |
C |
3: 82,950,594 (GRCm39) |
M387V |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,233,302 (GRCm39) |
L1522S |
probably benign |
Het |
Gdf9 |
T |
A |
11: 53,327,569 (GRCm39) |
M175K |
probably benign |
Het |
Gramd1b |
T |
A |
9: 40,227,060 (GRCm39) |
D299V |
probably damaging |
Het |
Gsg1l |
G |
T |
7: 125,522,671 (GRCm39) |
Q186K |
possibly damaging |
Het |
H2bl1 |
A |
T |
13: 99,120,691 (GRCm39) |
F112I |
probably damaging |
Het |
Katnip |
A |
T |
7: 125,472,648 (GRCm39) |
|
probably null |
Het |
Kcnh5 |
A |
G |
12: 74,944,426 (GRCm39) |
L941P |
possibly damaging |
Het |
Lrrc8d |
A |
G |
5: 105,960,253 (GRCm39) |
D221G |
possibly damaging |
Het |
Med19 |
T |
C |
2: 84,515,603 (GRCm39) |
F96L |
probably damaging |
Het |
Mei1 |
C |
A |
15: 81,976,912 (GRCm39) |
S589* |
probably null |
Het |
Myh15 |
G |
T |
16: 48,936,678 (GRCm39) |
D708Y |
probably damaging |
Het |
Naca |
C |
T |
10: 127,879,753 (GRCm39) |
|
probably benign |
Het |
Or5d43 |
A |
T |
2: 88,104,566 (GRCm39) |
Y276N |
possibly damaging |
Het |
Otog |
G |
A |
7: 45,950,011 (GRCm39) |
C306Y |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,607,369 (GRCm39) |
K1279E |
probably damaging |
Het |
Pkd1 |
C |
T |
17: 24,798,810 (GRCm39) |
T369I |
probably damaging |
Het |
Plekha8 |
A |
G |
6: 54,592,271 (GRCm39) |
S32G |
probably damaging |
Het |
Pramel25 |
T |
A |
4: 143,519,304 (GRCm39) |
Y22N |
probably benign |
Het |
Sema4g |
A |
G |
19: 44,984,908 (GRCm39) |
T113A |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,922,562 (GRCm39) |
M546T |
probably benign |
Het |
Slc27a5 |
A |
G |
7: 12,728,878 (GRCm39) |
V328A |
probably damaging |
Het |
Spef1 |
T |
C |
2: 131,014,688 (GRCm39) |
N78S |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,555,388 (GRCm39) |
T179A |
probably damaging |
Het |
Tmc5 |
T |
C |
7: 118,244,547 (GRCm39) |
I475T |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,400,488 (GRCm38) |
Y621C |
probably damaging |
Het |
Ttf1 |
T |
C |
2: 28,969,438 (GRCm39) |
F727L |
probably benign |
Het |
Tufm |
T |
C |
7: 126,088,332 (GRCm39) |
L75P |
probably damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,128,796 (GRCm39) |
D146E |
probably damaging |
Het |
Usp15 |
G |
A |
10: 122,963,742 (GRCm39) |
T533I |
probably damaging |
Het |
Vmn1r113 |
A |
G |
7: 20,521,747 (GRCm39) |
T180A |
probably benign |
Het |
Vmn1r205 |
G |
T |
13: 22,776,395 (GRCm39) |
P236T |
probably damaging |
Het |
Vmn2r112 |
T |
G |
17: 22,838,013 (GRCm39) |
C825G |
probably damaging |
Het |
Zfp712 |
T |
A |
13: 67,190,222 (GRCm39) |
I102F |
probably damaging |
Het |
|
Other mutations in Gm20547 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01674:Gm20547
|
APN |
17 |
35,100,631 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02162:Gm20547
|
APN |
17 |
35,076,003 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02542:Gm20547
|
APN |
17 |
35,076,236 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02992:Gm20547
|
APN |
17 |
35,076,095 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03033:Gm20547
|
APN |
17 |
35,078,492 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03089:Gm20547
|
APN |
17 |
35,080,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |