Incidental Mutation 'R0008:Zfp385b'
| ID |
8203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp385b
|
| Ensembl Gene |
ENSMUSG00000027016 |
| Gene Name |
zinc finger protein 385B |
| Synonyms |
C130013B13Rik, B830010L13Rik, Zfp533 |
| MMRRC Submission |
038303-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0008 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
77240966-77648050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77246291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 245
(S245R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090766]
[ENSMUST00000111830]
[ENSMUST00000111831]
[ENSMUST00000171063]
|
| AlphaFold |
Q8BXJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090766
AA Change: S245R
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000088271
Gene: ENSMUSG00000027016
AA Change: S245R
| 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 benign
Transcript: ENSMUST00000111830
AA Change: S131R
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107461
Gene: ENSMUSG00000027016
AA Change: S131R
| 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 benign
Transcript: ENSMUST00000111831
AA Change: S245R
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107462
Gene: ENSMUSG00000027016
AA Change: S245R
| 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: ENSMUST00000145251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171063
AA Change: S157R
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126801
Gene: ENSMUSG00000027016
AA Change: S157R
| 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 |
|
| Meta Mutation Damage Score |
0.1836 |
| Coding Region Coverage |
- 1x: 81.0%
- 3x: 72.4%
- 10x: 49.2%
- 20x: 28.4%
|
| Validation Efficiency |
90% (82/91) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,882,346 (GRCm39) |
K118R |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,889,976 (GRCm39) |
S87P |
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,303,125 (GRCm39) |
K196R |
probably benign |
Het |
| Arrdc3 |
T |
A |
13: 81,039,194 (GRCm39) |
I75N |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,203,618 (GRCm39) |
D54G |
probably benign |
Het |
| Cnot1 |
G |
T |
8: 96,487,969 (GRCm39) |
D562E |
probably damaging |
Het |
| Cp |
T |
A |
3: 20,022,287 (GRCm39) |
Y230N |
probably damaging |
Het |
| Dclre1c |
T |
C |
2: 3,439,032 (GRCm39) |
V64A |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,202,075 (GRCm39) |
L333H |
probably damaging |
Het |
| Hoxc11 |
T |
C |
15: 102,863,397 (GRCm39) |
V146A |
probably damaging |
Het |
| Il11 |
T |
C |
7: 4,776,658 (GRCm39) |
S111G |
probably benign |
Het |
| Ist1 |
A |
T |
8: 110,403,418 (GRCm39) |
I273K |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,346,895 (GRCm39) |
N784Y |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,462,716 (GRCm39) |
E648G |
probably damaging |
Het |
| Mtbp |
T |
A |
15: 55,449,889 (GRCm39) |
|
probably benign |
Het |
| Nat9 |
A |
T |
11: 115,075,941 (GRCm39) |
Y27N |
probably damaging |
Het |
| Nipsnap3b |
T |
A |
4: 53,015,112 (GRCm39) |
L53Q |
probably damaging |
Het |
| Nlrp3 |
A |
T |
11: 59,449,274 (GRCm39) |
H852L |
probably benign |
Het |
| Pax9 |
A |
G |
12: 56,756,528 (GRCm39) |
T289A |
probably benign |
Het |
| Pcyt2 |
A |
T |
11: 120,506,695 (GRCm39) |
I53N |
possibly damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,229,756 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
C |
T |
4: 141,369,704 (GRCm39) |
|
probably benign |
Het |
| Ppt1 |
T |
C |
4: 122,742,216 (GRCm39) |
|
probably benign |
Het |
| Prep |
T |
C |
10: 44,991,174 (GRCm39) |
V280A |
probably benign |
Het |
| Proser3 |
G |
A |
7: 30,239,563 (GRCm39) |
R514C |
probably damaging |
Het |
| Rbm45 |
T |
C |
2: 76,208,742 (GRCm39) |
Y293H |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,747,581 (GRCm39) |
L643P |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,878,884 (GRCm39) |
G208S |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,135,452 (GRCm39) |
Y287N |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,283,302 (GRCm39) |
T260A |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,064,301 (GRCm39) |
S415G |
possibly damaging |
Het |
| Tdp2 |
T |
G |
13: 25,025,333 (GRCm39) |
|
probably null |
Het |
| Tnrc6a |
G |
A |
7: 122,769,617 (GRCm39) |
R469H |
probably benign |
Het |
| Tox |
T |
A |
4: 6,842,411 (GRCm39) |
M40L |
probably benign |
Het |
| Trib2 |
A |
T |
12: 15,859,930 (GRCm39) |
H110Q |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,973,439 (GRCm39) |
I293T |
possibly damaging |
Het |
| Wdr93 |
A |
G |
7: 79,408,221 (GRCm39) |
E234G |
probably damaging |
Het |
| Zfyve9 |
T |
A |
4: 108,575,902 (GRCm39) |
E393V |
possibly damaging |
Het |
|
| Other mutations in Zfp385b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Zfp385b
|
APN |
2 |
77,307,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2012-11-20 |
Incidental Mutation