Incidental Mutation 'IGL00330:Zfp385b'
ID |
7143 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp385b
|
Ensembl Gene |
ENSMUSG00000027016 |
Gene Name |
zinc finger protein 385B |
Synonyms |
C130013B13Rik, B830010L13Rik, Zfp533 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00330
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
77240966-77648050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77307122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 167
(Q167R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107462
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090766]
[ENSMUST00000111830]
[ENSMUST00000111831]
[ENSMUST00000171063]
|
AlphaFold |
Q8BXJ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090766
AA Change: Q167R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000088271 Gene: ENSMUSG00000027016 AA Change: Q167R
Domain | Start | End | E-Value | Type |
ZnF_U1
|
30 |
65 |
3.07e-4 |
SMART |
ZnF_C2H2
|
34 |
58 |
3.21e1 |
SMART |
low complexity region
|
66 |
81 |
N/A |
INTRINSIC |
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
ZnF_U1
|
166 |
200 |
9.3e-4 |
SMART |
ZnF_C2H2
|
169 |
193 |
5.07e0 |
SMART |
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
ZnF_U1
|
294 |
328 |
2.29e-3 |
SMART |
ZnF_C2H2
|
297 |
321 |
1.47e1 |
SMART |
ZnF_U1
|
357 |
391 |
8.09e-4 |
SMART |
ZnF_C2H2
|
360 |
384 |
6.57e-1 |
SMART |
low complexity region
|
429 |
452 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111830
AA Change: Q53R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107461 Gene: ENSMUSG00000027016 AA Change: Q53R
Domain | Start | End | E-Value | Type |
ZnF_U1
|
52 |
86 |
9.3e-4 |
SMART |
ZnF_C2H2
|
55 |
79 |
5.07e0 |
SMART |
low complexity region
|
131 |
142 |
N/A |
INTRINSIC |
ZnF_U1
|
180 |
214 |
2.29e-3 |
SMART |
ZnF_C2H2
|
183 |
207 |
1.47e1 |
SMART |
ZnF_U1
|
243 |
277 |
8.09e-4 |
SMART |
ZnF_C2H2
|
246 |
270 |
6.57e-1 |
SMART |
low complexity region
|
315 |
338 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111831
AA Change: Q167R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107462 Gene: ENSMUSG00000027016 AA Change: Q167R
Domain | Start | End | E-Value | Type |
ZnF_U1
|
30 |
65 |
3.07e-4 |
SMART |
ZnF_C2H2
|
34 |
58 |
3.21e1 |
SMART |
low complexity region
|
66 |
81 |
N/A |
INTRINSIC |
low complexity region
|
83 |
92 |
N/A |
INTRINSIC |
ZnF_U1
|
166 |
200 |
9.3e-4 |
SMART |
ZnF_C2H2
|
169 |
193 |
5.07e0 |
SMART |
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
ZnF_U1
|
294 |
328 |
2.29e-3 |
SMART |
ZnF_C2H2
|
297 |
321 |
1.47e1 |
SMART |
ZnF_U1
|
357 |
391 |
8.09e-4 |
SMART |
ZnF_C2H2
|
360 |
384 |
6.57e-1 |
SMART |
low complexity region
|
429 |
452 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128583
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135756
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171063
AA Change: Q79R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126801 Gene: ENSMUSG00000027016 AA Change: Q79R
Domain | Start | End | E-Value | Type |
ZnF_U1
|
78 |
112 |
9.3e-4 |
SMART |
ZnF_C2H2
|
81 |
105 |
5.07e0 |
SMART |
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
ZnF_U1
|
206 |
240 |
2.29e-3 |
SMART |
ZnF_C2H2
|
209 |
233 |
1.47e1 |
SMART |
ZnF_U1
|
269 |
303 |
8.09e-4 |
SMART |
ZnF_C2H2
|
272 |
296 |
6.57e-1 |
SMART |
low complexity region
|
341 |
364 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145251
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146495
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
T |
G |
1: 192,857,087 (GRCm39) |
D146E |
probably benign |
Het |
Alpi |
A |
T |
1: 87,027,442 (GRCm39) |
L308Q |
probably damaging |
Het |
Bhmt2 |
A |
T |
13: 93,803,279 (GRCm39) |
|
probably benign |
Het |
Bsn |
T |
C |
9: 107,992,539 (GRCm39) |
E1071G |
probably damaging |
Het |
Car3 |
A |
T |
3: 14,933,439 (GRCm39) |
N128Y |
probably benign |
Het |
Cdkl2 |
C |
T |
5: 92,165,236 (GRCm39) |
|
probably null |
Het |
Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,821,767 (GRCm39) |
|
probably benign |
Het |
Gpr149 |
T |
G |
3: 62,438,094 (GRCm39) |
I688L |
probably damaging |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Kif19a |
G |
A |
11: 114,670,411 (GRCm39) |
G107D |
probably damaging |
Het |
Loxhd1 |
A |
C |
18: 77,483,146 (GRCm39) |
R1242S |
probably damaging |
Het |
Ms4a6c |
T |
C |
19: 11,455,676 (GRCm39) |
Y162H |
probably benign |
Het |
Msrb2 |
G |
T |
2: 19,376,510 (GRCm39) |
R6L |
unknown |
Het |
Myh2 |
A |
G |
11: 67,084,266 (GRCm39) |
N1630D |
probably benign |
Het |
Myrf |
A |
G |
19: 10,201,877 (GRCm39) |
V200A |
probably benign |
Het |
Ncor2 |
A |
G |
5: 125,119,807 (GRCm39) |
|
probably null |
Het |
Nrg1 |
T |
A |
8: 32,308,117 (GRCm39) |
Q621L |
probably damaging |
Het |
Or11h6 |
G |
A |
14: 50,880,625 (GRCm39) |
A296T |
probably benign |
Het |
Or5bw2 |
A |
T |
7: 6,573,667 (GRCm39) |
I226F |
possibly damaging |
Het |
Pfkp |
A |
G |
13: 6,669,586 (GRCm39) |
F211S |
probably damaging |
Het |
Pramex1 |
T |
C |
X: 134,515,258 (GRCm39) |
N273S |
probably benign |
Het |
Prss1l |
T |
C |
6: 41,371,707 (GRCm39) |
L51P |
probably damaging |
Het |
Pwwp3b |
A |
G |
X: 138,136,443 (GRCm39) |
D327G |
probably damaging |
Het |
Rnh1 |
G |
A |
7: 140,746,644 (GRCm39) |
A49V |
possibly damaging |
Het |
Serhl |
C |
T |
15: 82,988,574 (GRCm39) |
S167F |
probably benign |
Het |
Skint1 |
T |
C |
4: 111,878,777 (GRCm39) |
|
probably null |
Het |
Taar7b |
A |
C |
10: 23,876,740 (GRCm39) |
I302L |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,624,832 (GRCm39) |
F1706S |
probably benign |
Het |
Zfp106 |
G |
A |
2: 120,369,978 (GRCm39) |
P15S |
probably benign |
Het |
Zfp800 |
T |
A |
6: 28,243,037 (GRCm39) |
T643S |
probably benign |
Het |
|
Other mutations in Zfp385b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01684:Zfp385b
|
APN |
2 |
77,550,019 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02354:Zfp385b
|
APN |
2 |
77,280,647 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02361:Zfp385b
|
APN |
2 |
77,280,647 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02939:Zfp385b
|
APN |
2 |
77,242,403 (GRCm39) |
missense |
probably benign |
0.00 |
R0008:Zfp385b
|
UTSW |
2 |
77,246,291 (GRCm39) |
missense |
probably benign |
0.27 |
R0008:Zfp385b
|
UTSW |
2 |
77,246,291 (GRCm39) |
missense |
probably benign |
0.27 |
R0243:Zfp385b
|
UTSW |
2 |
77,246,072 (GRCm39) |
critical splice donor site |
probably null |
|
R0403:Zfp385b
|
UTSW |
2 |
77,307,189 (GRCm39) |
missense |
probably damaging |
0.97 |
R1566:Zfp385b
|
UTSW |
2 |
77,246,257 (GRCm39) |
missense |
probably benign |
0.05 |
R1799:Zfp385b
|
UTSW |
2 |
77,246,316 (GRCm39) |
missense |
probably benign |
0.13 |
R3618:Zfp385b
|
UTSW |
2 |
77,246,233 (GRCm39) |
missense |
probably benign |
|
R3619:Zfp385b
|
UTSW |
2 |
77,246,233 (GRCm39) |
missense |
probably benign |
|
R4007:Zfp385b
|
UTSW |
2 |
77,549,836 (GRCm39) |
missense |
probably benign |
0.00 |
R6290:Zfp385b
|
UTSW |
2 |
77,280,612 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6298:Zfp385b
|
UTSW |
2 |
77,244,323 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6383:Zfp385b
|
UTSW |
2 |
77,246,185 (GRCm39) |
missense |
probably benign |
0.01 |
R6482:Zfp385b
|
UTSW |
2 |
77,549,992 (GRCm39) |
small insertion |
probably benign |
|
R6484:Zfp385b
|
UTSW |
2 |
77,549,992 (GRCm39) |
small insertion |
probably benign |
|
R6856:Zfp385b
|
UTSW |
2 |
77,246,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R7276:Zfp385b
|
UTSW |
2 |
77,280,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R8692:Zfp385b
|
UTSW |
2 |
77,549,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R8982:Zfp385b
|
UTSW |
2 |
77,242,300 (GRCm39) |
missense |
probably damaging |
0.96 |
R9299:Zfp385b
|
UTSW |
2 |
77,246,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |