Incidental Mutation 'IGL03241:Zfp114'
| ID |
414291 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp114
|
| Ensembl Gene |
ENSMUSG00000068962 |
| Gene Name |
zinc finger protein 114 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL03241
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
23874485-23882613 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23880437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 261
(T261I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086010]
[ENSMUST00000205309]
[ENSMUST00000206547]
|
| AlphaFold |
B2RRA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086010
AA Change: T262I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000083173
Gene: ENSMUSG00000068962
AA Change: T262I
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
1.38e-17 |
SMART |
|
low complexity region
|
158 |
168 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
306 |
328 |
6.57e-1 |
SMART |
|
ZnF_C2H2
|
334 |
356 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
362 |
384 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
390 |
412 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
418 |
440 |
2.84e-5 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
502 |
524 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
530 |
552 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
558 |
580 |
2.36e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205309
AA Change: T261I
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206547
AA Change: T261I
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,236,436 (GRCm39) |
E1126V |
possibly damaging |
Het |
| Acnat1 |
A |
G |
4: 49,447,702 (GRCm39) |
V275A |
probably benign |
Het |
| Adamts15 |
G |
A |
9: 30,815,781 (GRCm39) |
P692S |
probably damaging |
Het |
| Aqp7 |
A |
T |
4: 41,045,270 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
A |
T |
18: 39,362,970 (GRCm39) |
I413F |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,713,267 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
C |
T |
15: 23,227,019 (GRCm39) |
T160I |
probably benign |
Het |
| Cfap206 |
T |
C |
4: 34,711,553 (GRCm39) |
Y448C |
probably damaging |
Het |
| Clec4a4 |
T |
C |
6: 122,967,332 (GRCm39) |
S3P |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,289,288 (GRCm39) |
H37Q |
possibly damaging |
Het |
| F7 |
A |
T |
8: 13,078,779 (GRCm39) |
E70V |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,274,027 (GRCm39) |
Q418H |
possibly damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,274,028 (GRCm39) |
E419K |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,397,975 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
T |
A |
14: 50,272,525 (GRCm39) |
M112L |
possibly damaging |
Het |
| Pfkm |
T |
C |
15: 98,021,061 (GRCm39) |
V293A |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,015,934 (GRCm39) |
S407P |
possibly damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,290,749 (GRCm39) |
V111A |
probably benign |
Het |
| St6galnac5 |
G |
T |
3: 152,552,223 (GRCm39) |
Q115K |
probably benign |
Het |
| Tex56 |
G |
T |
13: 35,128,313 (GRCm39) |
A177S |
probably damaging |
Het |
| Timmdc1 |
G |
A |
16: 38,331,071 (GRCm39) |
|
probably benign |
Het |
| Trim34b |
T |
C |
7: 103,983,820 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
A |
T |
8: 65,435,358 (GRCm39) |
I364N |
probably damaging |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,126 (GRCm39) |
N293Y |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,830 (GRCm39) |
T689A |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,148,438 (GRCm39) |
V111A |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,005,645 (GRCm39) |
T850A |
probably benign |
Het |
|
| Other mutations in Zfp114 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0139:Zfp114
|
UTSW |
7 |
23,880,685 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1443:Zfp114
|
UTSW |
7 |
23,877,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Zfp114
|
UTSW |
7 |
23,877,164 (GRCm39) |
splice site |
probably null |
|
|
R2169:Zfp114
|
UTSW |
7 |
23,880,509 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3928:Zfp114
|
UTSW |
7 |
23,880,467 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4915:Zfp114
|
UTSW |
7 |
23,877,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:Zfp114
|
UTSW |
7 |
23,877,206 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7102:Zfp114
|
UTSW |
7 |
23,880,083 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7480:Zfp114
|
UTSW |
7 |
23,881,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7847:Zfp114
|
UTSW |
7 |
23,880,460 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8677:Zfp114
|
UTSW |
7 |
23,880,070 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9496:Zfp114
|
UTSW |
7 |
23,880,463 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9619:Zfp114
|
UTSW |
7 |
23,880,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Zfp114
|
UTSW |
7 |
23,879,830 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0061:Zfp114
|
UTSW |
7 |
23,879,885 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation