Incidental Mutation 'IGL02579:Zfp385c'
ID |
299293 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp385c
|
Ensembl Gene |
ENSMUSG00000014198 |
Gene Name |
zinc finger protein 385C |
Synonyms |
A930006D11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
IGL02579
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
100518369-100583281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 100521605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 152
(G152C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017981]
[ENSMUST00000051947]
[ENSMUST00000103119]
[ENSMUST00000107376]
[ENSMUST00000142993]
|
AlphaFold |
A2A5E6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017981
|
SMART Domains |
Protein: ENSMUSP00000017981 Gene: ENSMUSG00000017837
Domain | Start | End | E-Value | Type |
Pfam:Arf
|
1 |
168 |
4.3e-9 |
PFAM |
Pfam:Roc
|
6 |
124 |
2.2e-13 |
PFAM |
Pfam:MMR_HSR1
|
6 |
165 |
3.1e-6 |
PFAM |
Pfam:Ras
|
6 |
170 |
2.9e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051947
|
SMART Domains |
Protein: ENSMUSP00000059559 Gene: ENSMUSG00000017837
Domain | Start | End | E-Value | Type |
Pfam:Arf
|
1 |
168 |
5.6e-9 |
PFAM |
Pfam:Miro
|
6 |
123 |
2.2e-21 |
PFAM |
Pfam:Ras
|
6 |
170 |
4.5e-27 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103119
AA Change: G152C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099408 Gene: ENSMUSG00000014198 AA Change: G152C
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
ZnF_U1
|
72 |
108 |
4.36e-2 |
SMART |
ZnF_C2H2
|
77 |
99 |
1.51e0 |
SMART |
low complexity region
|
125 |
141 |
N/A |
INTRINSIC |
low complexity region
|
143 |
161 |
N/A |
INTRINSIC |
low complexity region
|
181 |
200 |
N/A |
INTRINSIC |
ZnF_U1
|
225 |
259 |
5.72e-4 |
SMART |
ZnF_C2H2
|
228 |
252 |
7.11e0 |
SMART |
ZnF_U1
|
294 |
328 |
7.44e-3 |
SMART |
ZnF_C2H2
|
297 |
321 |
4.34e0 |
SMART |
low complexity region
|
347 |
365 |
N/A |
INTRINSIC |
low complexity region
|
382 |
405 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107376
|
SMART Domains |
Protein: ENSMUSP00000102999 Gene: ENSMUSG00000017837
Domain | Start | End | E-Value | Type |
Pfam:Arf
|
1 |
168 |
5.6e-9 |
PFAM |
Pfam:Miro
|
6 |
123 |
2.2e-21 |
PFAM |
Pfam:Ras
|
6 |
170 |
4.5e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142993
|
SMART Domains |
Protein: ENSMUSP00000114456 Gene: ENSMUSG00000017837
Domain | Start | End | E-Value | Type |
Pfam:Arf
|
1 |
151 |
1.3e-8 |
PFAM |
Pfam:Miro
|
6 |
123 |
1.4e-21 |
PFAM |
Pfam:MMR_HSR1
|
6 |
145 |
4.5e-6 |
PFAM |
Pfam:Ras
|
6 |
153 |
2.9e-25 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148560
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151589
AA Change: G231C
|
SMART Domains |
Protein: ENSMUSP00000119259 Gene: ENSMUSG00000014198 AA Change: G231C
Domain | Start | End | E-Value | Type |
ZnF_U1
|
40 |
74 |
6.04e-3 |
SMART |
ZnF_C2H2
|
43 |
67 |
6.31e1 |
SMART |
low complexity region
|
79 |
104 |
N/A |
INTRINSIC |
ZnF_U1
|
152 |
188 |
4.36e-2 |
SMART |
ZnF_C2H2
|
157 |
179 |
1.51e0 |
SMART |
low complexity region
|
205 |
221 |
N/A |
INTRINSIC |
low complexity region
|
223 |
241 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155840
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
G |
5: 9,005,537 (GRCm39) |
E1140G |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,091,135 (GRCm39) |
E461G |
probably damaging |
Het |
Bahcc1 |
A |
G |
11: 120,176,175 (GRCm39) |
|
probably benign |
Het |
Calhm6 |
C |
A |
10: 34,003,423 (GRCm39) |
M161I |
probably benign |
Het |
Dnmt1 |
A |
G |
9: 20,829,416 (GRCm39) |
M729T |
possibly damaging |
Het |
Enpep |
G |
A |
3: 129,077,739 (GRCm39) |
T626M |
probably benign |
Het |
Gje1 |
A |
T |
10: 14,592,492 (GRCm39) |
C97S |
probably benign |
Het |
Igkv4-58 |
T |
A |
6: 69,477,385 (GRCm39) |
I71F |
probably damaging |
Het |
Itfg1 |
G |
A |
8: 86,507,194 (GRCm39) |
T222M |
possibly damaging |
Het |
Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
Mtmr6 |
T |
A |
14: 60,519,378 (GRCm39) |
|
probably benign |
Het |
Nwd1 |
A |
T |
8: 73,434,155 (GRCm39) |
I1251F |
probably damaging |
Het |
Or5b101 |
T |
C |
19: 13,004,892 (GRCm39) |
D267G |
probably damaging |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Pold1 |
T |
C |
7: 44,192,703 (GRCm39) |
E53G |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,488,465 (GRCm39) |
D529V |
possibly damaging |
Het |
Rgl2 |
A |
G |
17: 34,156,134 (GRCm39) |
T741A |
probably benign |
Het |
Tex44 |
A |
G |
1: 86,354,169 (GRCm39) |
N26S |
probably benign |
Het |
Traf5 |
G |
T |
1: 191,731,848 (GRCm39) |
P28Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,589,433 (GRCm39) |
Y21274H |
probably damaging |
Het |
Vmn2r76 |
T |
A |
7: 85,877,961 (GRCm39) |
K479* |
probably null |
Het |
Zfp322a |
A |
T |
13: 23,541,613 (GRCm39) |
V43E |
probably damaging |
Het |
Zfpm2 |
A |
T |
15: 40,962,868 (GRCm39) |
N177Y |
possibly damaging |
Het |
|
Other mutations in Zfp385c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02156:Zfp385c
|
APN |
11 |
100,519,845 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02542:Zfp385c
|
APN |
11 |
100,520,742 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03243:Zfp385c
|
APN |
11 |
100,525,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Zfp385c
|
UTSW |
11 |
100,520,782 (GRCm39) |
missense |
probably benign |
0.08 |
R0054:Zfp385c
|
UTSW |
11 |
100,520,782 (GRCm39) |
missense |
probably benign |
0.08 |
R1158:Zfp385c
|
UTSW |
11 |
100,520,709 (GRCm39) |
unclassified |
probably benign |
|
R1884:Zfp385c
|
UTSW |
11 |
100,521,532 (GRCm39) |
missense |
probably benign |
|
R1892:Zfp385c
|
UTSW |
11 |
100,528,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R6010:Zfp385c
|
UTSW |
11 |
100,548,363 (GRCm39) |
missense |
probably benign |
0.00 |
R6020:Zfp385c
|
UTSW |
11 |
100,523,594 (GRCm39) |
missense |
probably benign |
|
R6901:Zfp385c
|
UTSW |
11 |
100,523,585 (GRCm39) |
missense |
probably benign |
0.06 |
R7008:Zfp385c
|
UTSW |
11 |
100,521,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R7272:Zfp385c
|
UTSW |
11 |
100,520,865 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8271:Zfp385c
|
UTSW |
11 |
100,548,291 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zfp385c
|
UTSW |
11 |
100,548,257 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Zfp385c
|
UTSW |
11 |
100,528,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |