Incidental Mutation 'IGL02992:Gm20547'
ID |
406988 |
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 # |
IGL02992
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35075388-35101018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35076095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 654
(E654V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120990
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000146299]
[ENSMUST00000153400]
[ENSMUST00000154526]
[ENSMUST00000176203]
[ENSMUST00000173357]
[ENSMUST00000165953]
[ENSMUST00000173065]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025229
AA Change: R657S
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000025229 Gene: ENSMUSG00000090231 AA Change: R657S
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: 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 |
probably benign
Transcript: ENSMUST00000128767
AA Change: R655S
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000119977 Gene: ENSMUSG00000090231 AA Change: R655S
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: R864S
|
SMART Domains |
Protein: ENSMUSP00000120864 Gene: ENSMUSG00000092511 AA Change: R864S
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 |
unknown
Transcript: ENSMUST00000141295
AA Change: R194S
|
SMART Domains |
Protein: ENSMUSP00000118945 Gene: ENSMUSG00000090231 AA Change: R194S
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
18 |
258 |
3.76e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146299
AA Change: R1170S
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000117677 Gene: ENSMUSG00000092511 AA Change: R1170S
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 |
possibly damaging
Transcript: ENSMUST00000153400
AA Change: R152S
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116497 Gene: ENSMUSG00000090231 AA Change: R152S
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
1 |
217 |
2.36e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154526
AA Change: E654V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120990 Gene: ENSMUSG00000090231 AA Change: E654V
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: ENSMUST00000176203
AA Change: E656V
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000135660 Gene: ENSMUSG00000090231 AA Change: E656V
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 |
unknown
Transcript: ENSMUST00000176332
AA Change: R189S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184774
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174075
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173775
|
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: 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: ENSMUST00000173065
|
SMART Domains |
Protein: ENSMUSP00000133934 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 |
228 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,921,935 (GRCm39) |
K1164E |
probably damaging |
Het |
Arhgap42 |
G |
A |
9: 8,998,249 (GRCm39) |
|
probably benign |
Het |
Arhgef12 |
T |
C |
9: 42,910,373 (GRCm39) |
D612G |
probably damaging |
Het |
Cpne3 |
T |
C |
4: 19,532,486 (GRCm39) |
D309G |
probably benign |
Het |
Daw1 |
T |
C |
1: 83,174,934 (GRCm39) |
|
probably benign |
Het |
Daxx |
T |
A |
17: 34,130,722 (GRCm39) |
C246S |
probably damaging |
Het |
Dpp7 |
T |
C |
2: 25,244,589 (GRCm39) |
D264G |
possibly damaging |
Het |
Dync2h1 |
T |
A |
9: 7,137,074 (GRCm39) |
H1472L |
probably benign |
Het |
Fastkd2 |
T |
C |
1: 63,777,083 (GRCm39) |
|
probably benign |
Het |
Fcrl2 |
T |
G |
3: 87,166,773 (GRCm39) |
R73S |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,526,223 (GRCm39) |
D367G |
probably damaging |
Het |
Gm839 |
T |
A |
6: 89,189,509 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2ird2 |
A |
T |
5: 134,246,456 (GRCm39) |
M905L |
possibly damaging |
Het |
Hoxb2 |
A |
T |
11: 96,243,910 (GRCm39) |
I174F |
probably damaging |
Het |
Hrh3 |
A |
G |
2: 179,742,608 (GRCm39) |
V308A |
probably benign |
Het |
Ints9 |
A |
G |
14: 65,217,613 (GRCm39) |
K47E |
probably benign |
Het |
Irak3 |
A |
T |
10: 120,018,566 (GRCm39) |
Y61N |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,358,276 (GRCm39) |
E614G |
probably damaging |
Het |
Lgals3 |
A |
T |
14: 47,622,982 (GRCm39) |
I214L |
probably benign |
Het |
Msh4 |
G |
T |
3: 153,577,962 (GRCm39) |
T444K |
possibly damaging |
Het |
Myh7b |
C |
A |
2: 155,463,330 (GRCm39) |
Q521K |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,359,536 (GRCm39) |
I567F |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,325,759 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
C |
T |
16: 3,771,887 (GRCm39) |
|
probably benign |
Het |
Nlrc5 |
A |
C |
8: 95,233,201 (GRCm39) |
E1353A |
possibly damaging |
Het |
Nr1h3 |
T |
A |
2: 91,020,911 (GRCm39) |
I260F |
probably damaging |
Het |
Pcnx1 |
G |
A |
12: 82,010,894 (GRCm39) |
R1211Q |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,168,293 (GRCm39) |
K605E |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,382,708 (GRCm39) |
E1215G |
possibly damaging |
Het |
Pex12 |
A |
G |
11: 83,188,753 (GRCm39) |
S81P |
probably damaging |
Het |
Pik3c2b |
C |
A |
1: 132,994,718 (GRCm39) |
Y227* |
probably null |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Prkg2 |
T |
G |
5: 99,172,365 (GRCm39) |
S117R |
probably benign |
Het |
Prl3d2 |
A |
T |
13: 27,311,266 (GRCm39) |
E179D |
probably benign |
Het |
Relch |
T |
A |
1: 105,647,189 (GRCm39) |
L684M |
possibly damaging |
Het |
Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,626 (GRCm39) |
T1748A |
possibly damaging |
Het |
Septin10 |
T |
C |
10: 59,028,000 (GRCm39) |
N107S |
possibly damaging |
Het |
Smu1 |
T |
A |
4: 40,739,550 (GRCm39) |
N420I |
probably damaging |
Het |
Sos1 |
A |
G |
17: 80,726,445 (GRCm39) |
F835L |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,888,879 (GRCm39) |
D2164G |
probably damaging |
Het |
Svbp |
A |
G |
4: 119,053,127 (GRCm39) |
E8G |
probably damaging |
Het |
Tgm3 |
T |
A |
2: 129,883,899 (GRCm39) |
M519K |
probably damaging |
Het |
Tspan12 |
A |
G |
6: 21,799,876 (GRCm39) |
|
probably null |
Het |
Vps52 |
T |
C |
17: 34,177,324 (GRCm39) |
V122A |
probably damaging |
Het |
Wipf1 |
T |
C |
2: 73,264,427 (GRCm39) |
Y458C |
probably damaging |
Het |
Zfp369 |
T |
A |
13: 65,442,265 (GRCm39) |
D286E |
possibly 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 |
IGL02148:Gm20547
|
APN |
17 |
35,079,524 (GRCm39) |
missense |
probably benign |
0.22 |
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 |
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 |
2016-08-02 |