Incidental Mutation 'R1399:Zfp92'
ID |
160297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp92
|
Ensembl Gene |
ENSMUSG00000031374 |
Gene Name |
zinc finger protein 92 |
Synonyms |
|
MMRRC Submission |
039461-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1399 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
X |
Chromosomal Location |
72454702-72471991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72466401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 465
(T465S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033740]
[ENSMUST00000086470]
|
AlphaFold |
Q62396 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033740
AA Change: T465S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000033740 Gene: ENSMUSG00000031374 AA Change: T465S
Domain | Start | End | E-Value | Type |
KRAB
|
14 |
74 |
3.17e-35 |
SMART |
ZnF_C2H2
|
141 |
163 |
5.14e-3 |
SMART |
ZnF_C2H2
|
169 |
191 |
1.84e-4 |
SMART |
ZnF_C2H2
|
197 |
219 |
6.88e-4 |
SMART |
ZnF_C2H2
|
225 |
247 |
7.9e-4 |
SMART |
ZnF_C2H2
|
253 |
275 |
1.3e-4 |
SMART |
ZnF_C2H2
|
281 |
303 |
1.38e-3 |
SMART |
ZnF_C2H2
|
309 |
331 |
2.01e1 |
SMART |
ZnF_C2H2
|
337 |
359 |
9.08e-4 |
SMART |
ZnF_C2H2
|
410 |
432 |
3.11e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086470
|
SMART Domains |
Protein: ENSMUSP00000083661 Gene: ENSMUSG00000031374
Domain | Start | End | E-Value | Type |
KRAB
|
14 |
74 |
3.17e-35 |
SMART |
ZnF_C2H2
|
141 |
163 |
5.14e-3 |
SMART |
ZnF_C2H2
|
169 |
191 |
1.84e-4 |
SMART |
ZnF_C2H2
|
197 |
219 |
6.88e-4 |
SMART |
ZnF_C2H2
|
225 |
247 |
7.9e-4 |
SMART |
ZnF_C2H2
|
253 |
275 |
1.3e-4 |
SMART |
ZnF_C2H2
|
281 |
303 |
1.38e-3 |
SMART |
ZnF_C2H2
|
309 |
331 |
2.01e1 |
SMART |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl5 |
T |
C |
10: 80,177,042 (GRCm39) |
S469G |
probably damaging |
Het |
Ccdc168 |
G |
A |
1: 44,100,471 (GRCm39) |
T209I |
possibly damaging |
Het |
Cep170 |
C |
T |
1: 176,585,969 (GRCm39) |
E608K |
probably damaging |
Het |
Csnk1g3 |
T |
C |
18: 54,028,982 (GRCm39) |
V45A |
probably damaging |
Het |
Eng |
C |
A |
2: 32,563,334 (GRCm39) |
Q297K |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
G6pd2 |
G |
A |
5: 61,967,361 (GRCm39) |
D379N |
probably benign |
Het |
Mrc1 |
C |
T |
2: 14,284,736 (GRCm39) |
T575M |
probably damaging |
Het |
Noct |
C |
T |
3: 51,157,897 (GRCm39) |
|
probably null |
Het |
Phka1 |
A |
G |
X: 101,660,964 (GRCm39) |
S226P |
probably damaging |
Het |
Pias4 |
T |
C |
10: 80,991,509 (GRCm39) |
Y346C |
probably damaging |
Het |
Ptger4 |
C |
T |
15: 5,264,412 (GRCm39) |
E415K |
possibly damaging |
Het |
Pwwp4b |
A |
G |
X: 72,182,235 (GRCm39) |
L287P |
probably damaging |
Het |
Rb1cc1 |
G |
A |
1: 6,320,042 (GRCm39) |
V1154I |
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
Vmn2r121 |
A |
C |
X: 123,039,545 (GRCm39) |
V541G |
possibly damaging |
Het |
|
Other mutations in Zfp92 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00419:Zfp92
|
APN |
X |
72,463,764 (GRCm39) |
splice site |
probably benign |
|
R1399:Zfp92
|
UTSW |
X |
72,465,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R1617:Zfp92
|
UTSW |
X |
72,463,466 (GRCm39) |
start gained |
probably benign |
|
R2231:Zfp92
|
UTSW |
X |
72,466,358 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2232:Zfp92
|
UTSW |
X |
72,466,358 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3413:Zfp92
|
UTSW |
X |
72,463,900 (GRCm39) |
splice site |
probably benign |
|
R6369:Zfp92
|
UTSW |
X |
72,465,574 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAACCCTATGAGTGCAGCGAATG -3'
(R):5'- TTCGACCTATCAGGGAAGGAGCAG -3'
Sequencing Primer
(F):5'- TCTTCAAGCACCAGGTGG -3'
(R):5'- GCAGGACAAACTACACTGAAG -3'
|
Posted On |
2014-03-14 |