Incidental Mutation 'IGL03196:1700003E16Rik'
ID |
412830 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1700003E16Rik
|
Ensembl Gene |
ENSMUSG00000030030 |
Gene Name |
RIKEN cDNA 1700003E16 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.665)
|
Stock # |
IGL03196
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
83133386-83139927 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83138045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 57
(V57A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145406
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032106]
[ENSMUST00000077407]
[ENSMUST00000113913]
[ENSMUST00000125894]
[ENSMUST00000130212]
[ENSMUST00000203203]
[ENSMUST00000153148]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032106
AA Change: V57A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000032106 Gene: ENSMUSG00000030030 AA Change: V57A
Domain | Start | End | E-Value | Type |
Pfam:DUF4639
|
6 |
571 |
3.7e-266 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000032108
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000077407
|
SMART Domains |
Protein: ENSMUSP00000076623 Gene: ENSMUSG00000031865
Domain | Start | End | E-Value | Type |
CAP_GLY
|
12 |
78 |
5.52e-31 |
SMART |
low complexity region
|
124 |
147 |
N/A |
INTRINSIC |
low complexity region
|
148 |
177 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
185 |
337 |
3e-3 |
SMART |
low complexity region
|
363 |
379 |
N/A |
INTRINSIC |
Pfam:Dynactin
|
489 |
768 |
8.2e-91 |
PFAM |
low complexity region
|
800 |
820 |
N/A |
INTRINSIC |
coiled coil region
|
914 |
1009 |
N/A |
INTRINSIC |
low complexity region
|
1025 |
1043 |
N/A |
INTRINSIC |
coiled coil region
|
1143 |
1172 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113913
|
SMART Domains |
Protein: ENSMUSP00000109546 Gene: ENSMUSG00000031865
Domain | Start | End | E-Value | Type |
CAP_GLY
|
12 |
78 |
5.52e-31 |
SMART |
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
low complexity region
|
144 |
167 |
N/A |
INTRINSIC |
low complexity region
|
168 |
197 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
205 |
357 |
3e-3 |
SMART |
low complexity region
|
383 |
399 |
N/A |
INTRINSIC |
Pfam:Dynactin
|
509 |
788 |
2.5e-90 |
PFAM |
low complexity region
|
820 |
840 |
N/A |
INTRINSIC |
coiled coil region
|
934 |
1029 |
N/A |
INTRINSIC |
low complexity region
|
1051 |
1069 |
N/A |
INTRINSIC |
coiled coil region
|
1168 |
1197 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125894
|
SMART Domains |
Protein: ENSMUSP00000122873 Gene: ENSMUSG00000030032
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130212
|
SMART Domains |
Protein: ENSMUSP00000115838 Gene: ENSMUSG00000031865
Domain | Start | End | E-Value | Type |
CAP_GLY
|
12 |
78 |
5.52e-31 |
SMART |
low complexity region
|
124 |
147 |
N/A |
INTRINSIC |
low complexity region
|
148 |
177 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144723
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000203203
AA Change: V57A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145406 Gene: ENSMUSG00000030030 AA Change: V57A
Domain | Start | End | E-Value | Type |
Pfam:DUF4639
|
6 |
82 |
1.4e-52 |
PFAM |
low complexity region
|
90 |
107 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154625
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146969
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153148
|
SMART Domains |
Protein: ENSMUSP00000116608 Gene: ENSMUSG00000030032
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
WD40
|
153 |
197 |
5.92e1 |
SMART |
WD40
|
201 |
238 |
3.55e1 |
SMART |
WD40
|
241 |
280 |
1.79e-1 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
T |
C |
12: 88,397,885 (GRCm39) |
V173A |
probably damaging |
Het |
Adgrv1 |
C |
A |
13: 81,594,597 (GRCm39) |
R4139L |
probably benign |
Het |
Aqp4 |
T |
G |
18: 15,526,566 (GRCm39) |
D305A |
probably benign |
Het |
Cadm1 |
T |
C |
9: 47,710,675 (GRCm39) |
S193P |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,432,340 (GRCm39) |
S377P |
possibly damaging |
Het |
Clic5 |
C |
A |
17: 44,552,960 (GRCm39) |
H71Q |
possibly damaging |
Het |
Col20a1 |
G |
A |
2: 180,649,671 (GRCm39) |
|
probably null |
Het |
Col5a1 |
A |
G |
2: 27,865,610 (GRCm39) |
D759G |
unknown |
Het |
Cplane1 |
A |
T |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
Cpt1b |
A |
G |
15: 89,308,598 (GRCm39) |
V110A |
probably benign |
Het |
Cts8 |
C |
T |
13: 61,401,272 (GRCm39) |
G85S |
probably benign |
Het |
Cul5 |
T |
A |
9: 53,537,180 (GRCm39) |
M551L |
probably damaging |
Het |
Eno1b |
T |
A |
18: 48,180,558 (GRCm39) |
D245E |
probably damaging |
Het |
Fgf1 |
A |
T |
18: 38,975,028 (GRCm39) |
Y140* |
probably null |
Het |
Flt1 |
A |
G |
5: 147,551,937 (GRCm39) |
|
probably null |
Het |
Fndc7 |
A |
G |
3: 108,790,760 (GRCm39) |
Y89H |
probably damaging |
Het |
Gm3127 |
A |
T |
14: 15,432,259 (GRCm39) |
M254L |
probably benign |
Het |
Gm5849 |
T |
C |
3: 90,685,089 (GRCm39) |
E32G |
probably damaging |
Het |
Gys1 |
T |
C |
7: 45,104,241 (GRCm39) |
|
probably benign |
Het |
H2ap |
A |
G |
X: 9,713,349 (GRCm39) |
Q27R |
possibly damaging |
Het |
Hdgfl2 |
T |
C |
17: 56,400,607 (GRCm39) |
V125A |
probably benign |
Het |
Igkv6-32 |
C |
T |
6: 70,051,042 (GRCm39) |
V105I |
probably benign |
Het |
Lmo3 |
T |
C |
6: 138,342,993 (GRCm39) |
T140A |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,958,123 (GRCm39) |
V793A |
possibly damaging |
Het |
Mep1b |
A |
C |
18: 21,228,121 (GRCm39) |
I575L |
probably benign |
Het |
Mtmr4 |
T |
A |
11: 87,491,609 (GRCm39) |
I155N |
possibly damaging |
Het |
Muc2 |
T |
C |
7: 141,301,367 (GRCm39) |
F361L |
probably damaging |
Het |
Ncoa7 |
T |
A |
10: 30,523,510 (GRCm39) |
|
probably benign |
Het |
Nme6 |
C |
T |
9: 109,670,561 (GRCm39) |
R71W |
probably damaging |
Het |
Or56b1b |
T |
C |
7: 108,164,061 (GRCm39) |
S314G |
probably benign |
Het |
Or9g4b |
G |
A |
2: 85,616,365 (GRCm39) |
G170D |
possibly damaging |
Het |
Or9m2 |
A |
T |
2: 87,820,826 (GRCm39) |
I124F |
possibly damaging |
Het |
Osbpl9 |
C |
T |
4: 108,930,061 (GRCm39) |
V357I |
probably damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,015,913 (GRCm39) |
|
probably benign |
Het |
Rnf216 |
T |
C |
5: 143,066,766 (GRCm39) |
R474G |
probably damaging |
Het |
Rpp25l |
A |
G |
4: 41,712,541 (GRCm39) |
V78A |
possibly damaging |
Het |
Sh3bp2 |
C |
A |
5: 34,714,687 (GRCm39) |
P245Q |
probably damaging |
Het |
Slc33a1 |
A |
G |
3: 63,871,151 (GRCm39) |
F154S |
possibly damaging |
Het |
Wasf2 |
T |
A |
4: 132,921,732 (GRCm39) |
S284T |
unknown |
Het |
Wdtc1 |
T |
C |
4: 133,022,648 (GRCm39) |
E566G |
probably damaging |
Het |
Zcchc14 |
C |
T |
8: 122,335,877 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 1700003E16Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01087:1700003E16Rik
|
APN |
6 |
83,139,770 (GRCm39) |
splice site |
probably null |
|
IGL02616:1700003E16Rik
|
APN |
6 |
83,138,644 (GRCm39) |
missense |
probably benign |
|
IGL03171:1700003E16Rik
|
APN |
6 |
83,139,377 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0124:1700003E16Rik
|
UTSW |
6 |
83,138,656 (GRCm39) |
missense |
probably benign |
|
R1081:1700003E16Rik
|
UTSW |
6 |
83,139,002 (GRCm39) |
missense |
probably benign |
|
R1184:1700003E16Rik
|
UTSW |
6 |
83,137,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:1700003E16Rik
|
UTSW |
6 |
83,139,568 (GRCm39) |
missense |
probably damaging |
0.96 |
R4361:1700003E16Rik
|
UTSW |
6 |
83,139,688 (GRCm39) |
missense |
probably damaging |
0.99 |
R4688:1700003E16Rik
|
UTSW |
6 |
83,139,680 (GRCm39) |
missense |
probably damaging |
0.99 |
R5326:1700003E16Rik
|
UTSW |
6 |
83,138,336 (GRCm39) |
missense |
probably damaging |
0.99 |
R6007:1700003E16Rik
|
UTSW |
6 |
83,137,900 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7212:1700003E16Rik
|
UTSW |
6 |
83,138,654 (GRCm39) |
missense |
probably benign |
0.00 |
R7343:1700003E16Rik
|
UTSW |
6 |
83,139,353 (GRCm39) |
missense |
probably benign |
0.12 |
R8081:1700003E16Rik
|
UTSW |
6 |
83,138,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R8121:1700003E16Rik
|
UTSW |
6 |
83,138,893 (GRCm39) |
missense |
probably benign |
|
R9188:1700003E16Rik
|
UTSW |
6 |
83,139,230 (GRCm39) |
missense |
probably benign |
0.12 |
R9329:1700003E16Rik
|
UTSW |
6 |
83,133,556 (GRCm39) |
start codon destroyed |
probably null |
0.55 |
Z1176:1700003E16Rik
|
UTSW |
6 |
83,138,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |