Incidental Mutation 'IGL01098:Zfp296'
ID |
51522 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp296
|
Ensembl Gene |
ENSMUSG00000011267 |
Gene Name |
zinc finger protein 296 |
Synonyms |
2210018A16Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.395)
|
Stock # |
IGL01098
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
19311212-19314581 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 19311845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 117
(K117N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051364]
[ENSMUST00000086041]
[ENSMUST00000108453]
[ENSMUST00000117222]
[ENSMUST00000119912]
[ENSMUST00000122055]
[ENSMUST00000122127]
[ENSMUST00000207907]
[ENSMUST00000208826]
[ENSMUST00000208068]
[ENSMUST00000207663]
[ENSMUST00000151646]
|
AlphaFold |
E9Q6W4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051364
|
SMART Domains |
Protein: ENSMUSP00000055844 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
129 |
1.9e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086041
|
SMART Domains |
Protein: ENSMUSP00000083205 Gene: ENSMUSG00000061028
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
35 |
N/A |
INTRINSIC |
DRY_EERY
|
39 |
171 |
1.28e-64 |
SMART |
low complexity region
|
172 |
212 |
N/A |
INTRINSIC |
low complexity region
|
241 |
260 |
N/A |
INTRINSIC |
low complexity region
|
263 |
283 |
N/A |
INTRINSIC |
low complexity region
|
302 |
324 |
N/A |
INTRINSIC |
low complexity region
|
339 |
368 |
N/A |
INTRINSIC |
low complexity region
|
372 |
446 |
N/A |
INTRINSIC |
low complexity region
|
453 |
476 |
N/A |
INTRINSIC |
low complexity region
|
480 |
532 |
N/A |
INTRINSIC |
coiled coil region
|
574 |
630 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108453
AA Change: K117N
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104093 Gene: ENSMUSG00000011267 AA Change: K117N
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
138 |
161 |
5.07e0 |
SMART |
ZnF_C2H2
|
212 |
234 |
2.05e-2 |
SMART |
ZnF_C2H2
|
240 |
262 |
1.1e-2 |
SMART |
low complexity region
|
281 |
295 |
N/A |
INTRINSIC |
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
ZnF_C2H2
|
360 |
382 |
1.95e-3 |
SMART |
ZnF_C2H2
|
388 |
410 |
3.39e-3 |
SMART |
ZnF_C2H2
|
418 |
441 |
1.14e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117222
|
SMART Domains |
Protein: ENSMUSP00000113266 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
129 |
1.9e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119912
|
SMART Domains |
Protein: ENSMUSP00000112742 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
129 |
1.9e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122055
|
SMART Domains |
Protein: ENSMUSP00000113583 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
129 |
1.9e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122127
|
SMART Domains |
Protein: ENSMUSP00000113709 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
129 |
1.9e-45 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208427
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207907
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208716
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208314
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208826
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208464
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208068
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207663
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151646
|
SMART Domains |
Protein: ENSMUSP00000116207 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
81 |
7e-16 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,315,453 (GRCm39) |
D75G |
possibly damaging |
Het |
Brip1 |
G |
T |
11: 85,999,688 (GRCm39) |
R765S |
possibly damaging |
Het |
Btbd16 |
T |
C |
7: 130,424,975 (GRCm39) |
I452T |
probably damaging |
Het |
Cdc42ep4 |
T |
G |
11: 113,620,328 (GRCm39) |
D21A |
probably damaging |
Het |
Cdx2 |
T |
A |
5: 147,243,792 (GRCm39) |
M1L |
possibly damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 127,952,845 (GRCm39) |
T98M |
probably damaging |
Het |
Cyp26a1 |
A |
T |
19: 37,688,450 (GRCm39) |
Q324L |
probably benign |
Het |
Etaa1 |
A |
G |
11: 17,896,059 (GRCm39) |
V686A |
probably damaging |
Het |
Gpr6 |
G |
A |
10: 40,946,739 (GRCm39) |
T281I |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,369,204 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
T |
10: 26,907,108 (GRCm39) |
I2351N |
possibly damaging |
Het |
Lman1 |
A |
G |
18: 66,124,711 (GRCm39) |
F343L |
probably damaging |
Het |
Lmo1 |
A |
G |
7: 108,742,657 (GRCm39) |
|
probably benign |
Het |
Lrrc17 |
T |
A |
5: 21,780,269 (GRCm39) |
F414L |
probably benign |
Het |
Man2b2 |
A |
T |
5: 36,972,900 (GRCm39) |
L538Q |
probably damaging |
Het |
Map3k9 |
A |
G |
12: 81,770,928 (GRCm39) |
S910P |
probably damaging |
Het |
Mapk1ip1 |
G |
A |
7: 138,438,191 (GRCm39) |
P80S |
probably damaging |
Het |
Mindy4 |
G |
T |
6: 55,261,727 (GRCm39) |
|
probably benign |
Het |
Msh4 |
A |
T |
3: 153,583,619 (GRCm39) |
|
probably benign |
Het |
Mta2 |
A |
G |
19: 8,924,081 (GRCm39) |
D187G |
probably damaging |
Het |
Olfml2a |
A |
G |
2: 38,837,226 (GRCm39) |
|
probably null |
Het |
Pink1 |
A |
T |
4: 138,047,408 (GRCm39) |
|
probably null |
Het |
Plekha6 |
T |
C |
1: 133,209,903 (GRCm39) |
F575L |
possibly damaging |
Het |
Rpe |
C |
A |
1: 66,745,674 (GRCm39) |
D71E |
probably benign |
Het |
Slc5a7 |
C |
T |
17: 54,599,988 (GRCm39) |
A142T |
probably benign |
Het |
Sptbn1 |
C |
T |
11: 30,109,385 (GRCm39) |
R70K |
probably damaging |
Het |
Taf1c |
G |
T |
8: 120,329,580 (GRCm39) |
Q159K |
probably damaging |
Het |
Tgfb1i1 |
T |
C |
7: 127,851,693 (GRCm39) |
F311S |
probably damaging |
Het |
Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
Tmed8 |
G |
T |
12: 87,223,445 (GRCm39) |
A98E |
probably benign |
Het |
Tmem200a |
A |
G |
10: 25,870,041 (GRCm39) |
I76T |
probably damaging |
Het |
Vmn2r104 |
T |
C |
17: 20,268,358 (GRCm39) |
E37G |
probably benign |
Het |
Vmn2r18 |
A |
T |
5: 151,496,296 (GRCm39) |
V474E |
probably damaging |
Het |
Vps52 |
C |
T |
17: 34,181,704 (GRCm39) |
T510I |
possibly damaging |
Het |
Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
Zer1 |
C |
T |
2: 29,998,232 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Zfp296 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00590:Zfp296
|
APN |
7 |
19,311,760 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0359:Zfp296
|
UTSW |
7 |
19,313,864 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0510:Zfp296
|
UTSW |
7 |
19,311,831 (GRCm39) |
missense |
probably benign |
0.01 |
R0707:Zfp296
|
UTSW |
7 |
19,313,661 (GRCm39) |
missense |
probably benign |
0.00 |
R4931:Zfp296
|
UTSW |
7 |
19,313,637 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4932:Zfp296
|
UTSW |
7 |
19,313,637 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4933:Zfp296
|
UTSW |
7 |
19,313,637 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5190:Zfp296
|
UTSW |
7 |
19,311,332 (GRCm39) |
missense |
probably benign |
0.33 |
R5974:Zfp296
|
UTSW |
7 |
19,311,862 (GRCm39) |
missense |
probably benign |
0.00 |
R9694:Zfp296
|
UTSW |
7 |
19,314,227 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Posted On |
2013-06-21 |