Incidental Mutation 'R3882:Zfp952'
ID |
312829 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp952
|
Ensembl Gene |
ENSMUSG00000053390 |
Gene Name |
zinc finger protein 952 |
Synonyms |
C920016K16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R3882 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
33212103-33224431 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 33220949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 18
(E18*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123066
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087666]
[ENSMUST00000157017]
|
AlphaFold |
B0V2W4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000087666
AA Change: E56*
|
SMART Domains |
Protein: ENSMUSP00000084949 Gene: ENSMUSG00000053390 AA Change: E56*
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: ENSMUST00000129057
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141815
|
Predicted Effect |
probably null
Transcript: ENSMUST00000157017
AA Change: E18*
|
SMART Domains |
Protein: ENSMUSP00000123066 Gene: ENSMUSG00000053390 AA Change: E18*
Domain | Start | End | E-Value | Type |
Blast:KRAB
|
1 |
35 |
4e-17 |
BLAST |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (33/34) |
Allele List at MGI |
All alleles(2) : Gene trapped(2) |
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acy1 |
G |
T |
9: 106,312,708 (GRCm39) |
T181K |
possibly damaging |
Het |
Adcy4 |
A |
G |
14: 56,012,003 (GRCm39) |
F581L |
probably benign |
Het |
Amhr2 |
G |
A |
15: 102,354,333 (GRCm39) |
G48D |
probably damaging |
Het |
Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
Arhgef17 |
A |
G |
7: 100,525,661 (GRCm39) |
F1979S |
possibly damaging |
Het |
Bltp2 |
T |
A |
11: 78,153,526 (GRCm39) |
W24R |
probably damaging |
Het |
C2 |
T |
C |
17: 35,092,465 (GRCm39) |
T191A |
probably benign |
Het |
Cmya5 |
T |
A |
13: 93,227,727 (GRCm39) |
T2454S |
probably benign |
Het |
Dstn |
A |
G |
2: 143,784,107 (GRCm39) |
E150G |
probably benign |
Het |
Dync1h1 |
G |
T |
12: 110,595,492 (GRCm39) |
V1444F |
probably benign |
Het |
Eif3f |
T |
C |
7: 108,540,162 (GRCm39) |
V319A |
possibly damaging |
Het |
Gpha2 |
T |
C |
19: 6,276,919 (GRCm39) |
|
probably null |
Het |
Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
Kif18a |
A |
G |
2: 109,137,319 (GRCm39) |
N517S |
probably benign |
Het |
Kif20b |
T |
A |
19: 34,927,480 (GRCm39) |
I874N |
probably damaging |
Het |
Lepr |
T |
A |
4: 101,672,462 (GRCm39) |
V1162E |
probably damaging |
Het |
Man2a2 |
A |
T |
7: 80,012,063 (GRCm39) |
V698D |
possibly damaging |
Het |
Miip |
A |
C |
4: 147,945,509 (GRCm39) |
S376A |
possibly damaging |
Het |
Nsun7 |
G |
A |
5: 66,435,983 (GRCm39) |
R285Q |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,031,517 (GRCm39) |
V281A |
probably benign |
Het |
Paxip1 |
C |
T |
5: 27,953,837 (GRCm39) |
R953Q |
probably damaging |
Het |
Pcdha8 |
C |
A |
18: 37,126,099 (GRCm39) |
L194I |
probably damaging |
Het |
Pcdha8 |
A |
G |
18: 37,126,624 (GRCm39) |
I369V |
probably benign |
Het |
Pcdhga10 |
C |
A |
18: 37,880,494 (GRCm39) |
A85E |
possibly damaging |
Het |
Ppfibp1 |
A |
G |
6: 146,899,719 (GRCm39) |
R137G |
possibly damaging |
Het |
Rcor1 |
C |
T |
12: 111,070,187 (GRCm39) |
A230V |
probably damaging |
Het |
Scn3a |
T |
C |
2: 65,312,623 (GRCm39) |
M1191V |
probably benign |
Het |
Skor2 |
A |
G |
18: 76,950,384 (GRCm39) |
D904G |
probably damaging |
Het |
Suco |
A |
T |
1: 161,662,313 (GRCm39) |
V706E |
probably benign |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Vmn1r83 |
A |
T |
7: 12,055,329 (GRCm39) |
C243S |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,092,536 (GRCm39) |
C1083S |
possibly damaging |
Het |
Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
Zscan25 |
G |
T |
5: 145,227,862 (GRCm39) |
G509C |
probably damaging |
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 |
|
IGL03056:Zfp952
|
APN |
17 |
33,221,740 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGAACAGCTGCTTCTTGTTC -3'
(R):5'- CCGATCATACCCAGGTTAATAATG -3'
Sequencing Primer
(F):5'- AGAACAGCTGCTTCTTGTTCATTTG -3'
(R):5'- ATTCTGAATATTCCAGCTCAGTGC -3'
|
Posted On |
2015-04-30 |