Incidental Mutation 'IGL03056:Zfp952'
| ID |
409240 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp952
|
| Ensembl Gene |
ENSMUSG00000053390 |
| Gene Name |
zinc finger protein 952 |
| Synonyms |
C920016K16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL03056
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
33212103-33224431 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33221740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 35
(V35E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087666]
[ENSMUST00000157017]
|
| AlphaFold |
B0V2W4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087666
AA Change: V73E
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000084949
Gene: ENSMUSG00000053390
AA Change: V73E
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
10 |
73 |
4.6e-14 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
335 |
357 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
363 |
385 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
391 |
413 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
419 |
441 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
447 |
469 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
475 |
497 |
1.43e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141815
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000157017
AA Change: V35E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123066
Gene: ENSMUSG00000053390
AA Change: V35E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
1 |
35 |
4e-17 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Gene trapped(2) |
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,647,862 (GRCm39) |
H1118R |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,958,947 (GRCm39) |
V339I |
probably damaging |
Het |
| Ank1 |
G |
T |
8: 23,631,195 (GRCm39) |
V107F |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,198,180 (GRCm39) |
|
probably null |
Het |
| Cd160 |
T |
C |
3: 96,713,127 (GRCm39) |
T46A |
probably benign |
Het |
| Cimip2a |
T |
A |
2: 25,111,367 (GRCm39) |
M232K |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,636,682 (GRCm39) |
Y221F |
probably damaging |
Het |
| Ddx18 |
C |
T |
1: 121,492,264 (GRCm39) |
A148T |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,956,570 (GRCm39) |
M307T |
probably damaging |
Het |
| Fam216b |
G |
A |
14: 78,320,223 (GRCm39) |
H86Y |
probably benign |
Het |
| Fh1 |
A |
T |
1: 175,433,728 (GRCm39) |
C374S |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,556,529 (GRCm39) |
V207A |
probably benign |
Het |
| Gucy1a1 |
T |
C |
3: 82,020,594 (GRCm39) |
K101R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,908 (GRCm39) |
Q116K |
possibly damaging |
Het |
| Kdm5b |
C |
A |
1: 134,515,717 (GRCm39) |
Q114K |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,085,193 (GRCm39) |
R516Q |
probably null |
Het |
| Lca5l |
C |
T |
16: 95,962,551 (GRCm39) |
C463Y |
probably benign |
Het |
| Lgsn |
T |
A |
1: 31,242,705 (GRCm39) |
Y262* |
probably null |
Het |
| Lig4 |
A |
G |
8: 10,022,580 (GRCm39) |
I400T |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,503,409 (GRCm39) |
|
probably null |
Het |
| Mprip |
T |
A |
11: 59,662,518 (GRCm39) |
I2243N |
probably damaging |
Het |
| Myo1f |
A |
T |
17: 33,804,574 (GRCm39) |
Y426F |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,795 (GRCm39) |
S414C |
possibly damaging |
Het |
| Nrg1 |
T |
C |
8: 32,311,451 (GRCm39) |
I363V |
possibly damaging |
Het |
| Or4f54 |
A |
T |
2: 111,123,517 (GRCm39) |
R301S |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,690,958 (GRCm39) |
I86L |
possibly damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,386,736 (GRCm39) |
V268A |
probably damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,728,695 (GRCm39) |
F17L |
possibly damaging |
Het |
| Slc9a3 |
T |
A |
13: 74,298,938 (GRCm39) |
V119E |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,447,472 (GRCm39) |
M2346K |
probably benign |
Het |
| Tcf4 |
G |
T |
18: 69,784,283 (GRCm39) |
|
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,535 (GRCm39) |
V183A |
probably damaging |
Het |
| Ust |
T |
C |
10: 8,083,326 (GRCm39) |
H350R |
probably benign |
Het |
|
| Other mutations in Zfp952 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01865:Zfp952
|
APN |
17 |
33,221,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02560:Zfp952
|
APN |
17 |
33,221,793 (GRCm39) |
nonsense |
probably null |
|
|
IGL03151:Zfp952
|
APN |
17 |
33,221,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
0152:Zfp952
|
UTSW |
17 |
33,222,195 (GRCm39) |
splice site |
probably null |
|
|
R0508:Zfp952
|
UTSW |
17 |
33,221,979 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1936:Zfp952
|
UTSW |
17 |
33,222,643 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3882:Zfp952
|
UTSW |
17 |
33,220,949 (GRCm39) |
nonsense |
probably null |
|
|
R4560:Zfp952
|
UTSW |
17 |
33,222,928 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4649:Zfp952
|
UTSW |
17 |
33,221,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7103:Zfp952
|
UTSW |
17 |
33,222,606 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7207:Zfp952
|
UTSW |
17 |
33,222,489 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7209:Zfp952
|
UTSW |
17 |
33,222,444 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7508:Zfp952
|
UTSW |
17 |
33,222,756 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7699:Zfp952
|
UTSW |
17 |
33,220,983 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8424:Zfp952
|
UTSW |
17 |
33,222,191 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8445:Zfp952
|
UTSW |
17 |
33,222,552 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8711:Zfp952
|
UTSW |
17 |
33,222,004 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8919:Zfp952
|
UTSW |
17 |
33,220,628 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8970:Zfp952
|
UTSW |
17 |
33,221,810 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Zfp952
|
UTSW |
17 |
33,222,078 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation