Incidental Mutation 'IGL03033:Gm20547'
| ID |
408525 |
| 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 # |
IGL03033
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35075388-35101018 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35078492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 362
(M362K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000025230]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000176203]
[ENSMUST00000154526]
[ENSMUST00000146299]
[ENSMUST00000165953]
[ENSMUST00000153400]
[ENSMUST00000173357]
[ENSMUST00000152417]
[ENSMUST00000148431]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025229
AA Change: M364K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: M364K
| 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 damaging
Transcript: ENSMUST00000128767
AA Change: M362K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: M362K
| 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: M571K
|
| SMART Domains |
Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: M571K
| 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 |
possibly damaging
Transcript: ENSMUST00000176203
AA Change: M364K
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
AA Change: M364K
| 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 |
probably damaging
Transcript: ENSMUST00000154526
AA Change: M362K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
AA Change: M362K
| 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: M877K
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: M877K
| 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 |
noncoding transcript
Transcript: ENSMUST00000174075
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174888
|
| 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: 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: 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: 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: 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: 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: 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 |
|---|
| Aoc1l2 |
A |
T |
6: 48,909,452 (GRCm39) |
T566S |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,585,003 (GRCm39) |
T405A |
probably benign |
Het |
| Bicd2 |
G |
T |
13: 49,533,396 (GRCm39) |
V587L |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,993,192 (GRCm39) |
D853E |
probably damaging |
Het |
| Cacna1i |
C |
A |
15: 80,246,440 (GRCm39) |
N611K |
probably damaging |
Het |
| Capn11 |
A |
G |
17: 45,953,473 (GRCm39) |
L227P |
probably damaging |
Het |
| Copb2 |
A |
G |
9: 98,452,426 (GRCm39) |
N70S |
probably benign |
Het |
| Ddb1 |
T |
C |
19: 10,603,290 (GRCm39) |
V866A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,208,826 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
A |
G |
13: 12,596,551 (GRCm39) |
Y117C |
probably damaging |
Het |
| Esyt1 |
T |
G |
10: 128,352,252 (GRCm39) |
R758S |
probably benign |
Het |
| Gm20441 |
A |
G |
10: 75,607,326 (GRCm39) |
F55S |
probably damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,653,393 (GRCm39) |
V334A |
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,958 (GRCm39) |
F53L |
probably benign |
Het |
| Kcnk18 |
C |
T |
19: 59,223,616 (GRCm39) |
P254S |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,886,833 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lrp3 |
T |
C |
7: 34,902,052 (GRCm39) |
M589V |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,665 (GRCm39) |
V918A |
probably benign |
Het |
| Nsg2 |
A |
G |
11: 31,951,836 (GRCm39) |
T29A |
probably damaging |
Het |
| Or51b4 |
T |
A |
7: 103,530,724 (GRCm39) |
H242L |
probably damaging |
Het |
| Pank4 |
C |
T |
4: 155,059,172 (GRCm39) |
T435I |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,163,502 (GRCm39) |
|
probably null |
Het |
| Prr14 |
G |
T |
7: 127,071,135 (GRCm39) |
L3F |
probably damaging |
Het |
| Rfx7 |
A |
T |
9: 72,440,271 (GRCm39) |
|
probably benign |
Het |
| Rhbdl3 |
A |
G |
11: 80,237,653 (GRCm39) |
N295S |
probably damaging |
Het |
| Ripk3 |
A |
G |
14: 56,024,622 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
T |
4: 100,269,092 (GRCm39) |
N310I |
possibly damaging |
Het |
| Rpl23a |
T |
C |
11: 78,072,408 (GRCm39) |
Y74C |
possibly damaging |
Het |
| Rtp3 |
A |
T |
9: 110,815,162 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,514,213 (GRCm39) |
N1326K |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,818,018 (GRCm39) |
N253S |
probably damaging |
Het |
| Setd2 |
A |
C |
9: 110,380,343 (GRCm39) |
E1386A |
possibly damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,537,596 (GRCm39) |
I1211V |
possibly damaging |
Het |
| Sh3tc2 |
G |
A |
18: 62,107,549 (GRCm39) |
V187M |
possibly damaging |
Het |
| Slc30a6 |
G |
T |
17: 74,716,373 (GRCm39) |
E136* |
probably null |
Het |
| Sptan1 |
T |
A |
2: 29,881,045 (GRCm39) |
V438E |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,832,667 (GRCm39) |
|
probably null |
Het |
| Sult2a1 |
T |
A |
7: 13,566,635 (GRCm39) |
|
probably benign |
Het |
| Tmem198 |
A |
G |
1: 75,459,612 (GRCm39) |
D189G |
possibly damaging |
Het |
| Tnfrsf8 |
C |
A |
4: 145,019,219 (GRCm39) |
L205F |
possibly damaging |
Het |
| Vmn1r68 |
T |
A |
7: 10,262,074 (GRCm39) |
E8V |
probably damaging |
Het |
| Wnk3 |
G |
A |
X: 150,059,924 (GRCm39) |
D742N |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,468,297 (GRCm39) |
|
probably null |
Het |
| Zfp113 |
A |
T |
5: 138,149,458 (GRCm39) |
|
probably benign |
Het |
| Zfp120 |
A |
T |
2: 149,961,794 (GRCm39) |
D51E |
probably benign |
Het |
| Zfp473 |
C |
T |
7: 44,382,522 (GRCm39) |
V603M |
probably benign |
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 |
|
IGL02992:Gm20547
|
APN |
17 |
35,076,095 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03089:Gm20547
|
APN |
17 |
35,080,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation