Incidental Mutation 'R1377:Zfp454'
| ID |
162917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp454
|
| Ensembl Gene |
ENSMUSG00000048728 |
| Gene Name |
zinc finger protein 454 |
| Synonyms |
|
| MMRRC Submission |
039441-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
50763545-50778463 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50764607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 164
(Y164C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050595]
[ENSMUST00000109131]
[ENSMUST00000125749]
[ENSMUST00000163301]
|
| AlphaFold |
Q80Y34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050595
AA Change: Y275C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061824
Gene: ENSMUSG00000048728
AA Change: Y275C
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
1.35e-29 |
SMART |
|
ZnF_C2H2
|
191 |
213 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
2.95e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109131
AA Change: Y164C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104759
Gene: ENSMUSG00000048728
AA Change: Y164C
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
80 |
102 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
119 |
141 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
147 |
169 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
175 |
197 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
203 |
225 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
231 |
253 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
259 |
281 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
287 |
309 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
315 |
337 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
371 |
393 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
2.95e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125749
|
| SMART Domains |
Protein: ENSMUSP00000122658
Gene: ENSMUSG00000048728
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
1.35e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136599
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163301
AA Change: Y275C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129125
Gene: ENSMUSG00000048728
AA Change: Y275C
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
1.35e-29 |
SMART |
|
ZnF_C2H2
|
191 |
213 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
2.95e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,934,869 (GRCm39) |
V363A |
probably damaging |
Het |
| Arc |
G |
A |
15: 74,544,101 (GRCm39) |
H41Y |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,501,801 (GRCm39) |
A854V |
probably benign |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,059,596 (GRCm39) |
K4399* |
probably null |
Het |
| Dscam |
A |
G |
16: 96,573,694 (GRCm39) |
V756A |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,395,104 (GRCm39) |
E574V |
probably damaging |
Het |
| Fbxo46 |
T |
A |
7: 18,870,350 (GRCm39) |
V323E |
probably damaging |
Het |
| Gria1 |
C |
A |
11: 57,092,002 (GRCm39) |
N163K |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,545,202 (GRCm39) |
I133M |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,921,089 (GRCm39) |
L750Q |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,462,022 (GRCm39) |
R1195Q |
probably benign |
Het |
| Rbm15 |
T |
C |
3: 107,238,074 (GRCm39) |
T775A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,716 (GRCm39) |
E207G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,397,345 (GRCm39) |
I329N |
probably damaging |
Het |
| Stoml3 |
G |
A |
3: 53,415,062 (GRCm39) |
A285T |
probably benign |
Het |
| Trhr2 |
C |
T |
8: 123,087,327 (GRCm39) |
V38M |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,123 (GRCm39) |
L25P |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,021,694 (GRCm39) |
M748K |
unknown |
Het |
| Zfp804a |
T |
C |
2: 82,088,841 (GRCm39) |
V890A |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably damaging |
Het |
|
| Other mutations in Zfp454 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01062:Zfp454
|
APN |
11 |
50,765,033 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01631:Zfp454
|
APN |
11 |
50,774,562 (GRCm39) |
missense |
probably benign |
|
|
R0109:Zfp454
|
UTSW |
11 |
50,774,602 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0606:Zfp454
|
UTSW |
11 |
50,765,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0743:Zfp454
|
UTSW |
11 |
50,764,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0884:Zfp454
|
UTSW |
11 |
50,764,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1181:Zfp454
|
UTSW |
11 |
50,764,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Zfp454
|
UTSW |
11 |
50,764,822 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4869:Zfp454
|
UTSW |
11 |
50,763,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Zfp454
|
UTSW |
11 |
50,764,950 (GRCm39) |
missense |
probably benign |
|
|
R5379:Zfp454
|
UTSW |
11 |
50,774,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5997:Zfp454
|
UTSW |
11 |
50,764,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6321:Zfp454
|
UTSW |
11 |
50,763,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6490:Zfp454
|
UTSW |
11 |
50,764,950 (GRCm39) |
missense |
probably benign |
|
|
R6892:Zfp454
|
UTSW |
11 |
50,764,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Zfp454
|
UTSW |
11 |
50,777,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7650:Zfp454
|
UTSW |
11 |
50,774,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8671:Zfp454
|
UTSW |
11 |
50,764,595 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9368:Zfp454
|
UTSW |
11 |
50,764,537 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGAGGTTTGCAGTCTGGTTGAA -3'
(R):5'- TCTCTAAGAGTTCCACCCTTAAGAAGCA -3'
Sequencing Primer
(F):5'- ccctgaaagccttctcacac -3'
(R):5'- GAAGCATCAGAAACTTCATACCG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation