Incidental Mutation 'PIT4469001:Zfp474'
| ID |
555843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp474
|
| Ensembl Gene |
ENSMUSG00000046886 |
| Gene Name |
zinc finger protein 474 |
| Synonyms |
4933409D10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
PIT4469001 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
52748987-52772902 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52771791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 148
(Q148L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072666]
[ENSMUST00000209270]
|
| AlphaFold |
Q6V5K9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072666
AA Change: Q148L
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072453
Gene: ENSMUSG00000046886
AA Change: Q148L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-C2HC_2
|
90 |
114 |
1.8e-10 |
PFAM |
|
Pfam:zf-C2HC_2
|
161 |
185 |
3.3e-13 |
PFAM |
|
Pfam:zf-C2HC_2
|
217 |
241 |
1.2e-10 |
PFAM |
|
low complexity region
|
250 |
267 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC_2
|
280 |
304 |
1.1e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209270
AA Change: Q148L
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 71.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
G |
1: 85,652,920 (GRCm39) |
F83L |
probably benign |
Het |
| Acsm2 |
T |
A |
7: 119,177,408 (GRCm39) |
C308S |
possibly damaging |
Het |
| Ak3 |
A |
G |
19: 29,025,157 (GRCm39) |
S25P |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,721,438 (GRCm39) |
V176E |
unknown |
Het |
| Bmper |
A |
T |
9: 23,317,845 (GRCm39) |
H488L |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,572,933 (GRCm39) |
C2084S |
unknown |
Het |
| Ccp110 |
T |
A |
7: 118,321,600 (GRCm39) |
N418K |
probably benign |
Het |
| Ddx17 |
C |
A |
15: 79,428,014 (GRCm39) |
G32C |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Dusp16 |
G |
A |
6: 134,738,115 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
G |
7: 82,307,373 (GRCm39) |
F90V |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,910,011 (GRCm39) |
N252K |
probably damaging |
Het |
| Gdf6 |
T |
C |
4: 9,859,569 (GRCm39) |
V217A |
probably damaging |
Het |
| H1f4 |
A |
T |
13: 23,806,362 (GRCm39) |
V40E |
probably damaging |
Het |
| Hint1 |
T |
A |
11: 54,760,896 (GRCm39) |
S112T |
unknown |
Het |
| Kif5c |
T |
C |
2: 49,631,360 (GRCm39) |
V679A |
probably benign |
Het |
| Lrrn3 |
A |
T |
12: 41,503,017 (GRCm39) |
D433E |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Naa11 |
A |
G |
5: 97,539,485 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
T |
A |
3: 49,709,518 (GRCm39) |
H599L |
probably benign |
Het |
| Pgc |
A |
T |
17: 48,039,680 (GRCm39) |
K25* |
probably null |
Het |
| Pramel58 |
T |
A |
5: 94,830,652 (GRCm39) |
V50E |
probably damaging |
Het |
| Psd4 |
G |
A |
2: 24,284,306 (GRCm39) |
D57N |
probably benign |
Het |
| Pxdn |
G |
A |
12: 30,055,828 (GRCm39) |
R1238Q |
probably benign |
Het |
| Smim41 |
T |
C |
15: 101,191,152 (GRCm39) |
V6A |
probably benign |
Het |
| Spata32 |
T |
C |
11: 103,100,653 (GRCm39) |
N38S |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,279,707 (GRCm39) |
T279A |
probably benign |
Het |
| Unc13a |
C |
A |
8: 72,110,958 (GRCm39) |
E418* |
probably null |
Het |
| Vmn2r97 |
C |
A |
17: 19,149,878 (GRCm39) |
T422K |
probably benign |
Het |
|
| Other mutations in Zfp474 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Zfp474
|
APN |
18 |
52,771,565 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01651:Zfp474
|
APN |
18 |
52,771,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01750:Zfp474
|
APN |
18 |
52,772,349 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02013:Zfp474
|
APN |
18 |
52,771,971 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
PIT4618001:Zfp474
|
UTSW |
18 |
52,771,476 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0615:Zfp474
|
UTSW |
18 |
52,771,421 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1178:Zfp474
|
UTSW |
18 |
52,771,814 (GRCm39) |
nonsense |
probably null |
|
|
R1180:Zfp474
|
UTSW |
18 |
52,771,814 (GRCm39) |
nonsense |
probably null |
|
|
R1610:Zfp474
|
UTSW |
18 |
52,771,437 (GRCm39) |
missense |
probably benign |
|
|
R1819:Zfp474
|
UTSW |
18 |
52,771,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Zfp474
|
UTSW |
18 |
52,771,503 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6270:Zfp474
|
UTSW |
18 |
52,771,436 (GRCm39) |
missense |
probably benign |
|
|
R7574:Zfp474
|
UTSW |
18 |
52,772,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8194:Zfp474
|
UTSW |
18 |
52,772,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8799:Zfp474
|
UTSW |
18 |
52,772,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9407:Zfp474
|
UTSW |
18 |
52,771,502 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9652:Zfp474
|
UTSW |
18 |
52,772,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATGTCAGAAACCCAGCCTAGAC -3'
(R):5'- CCGCTAGAAGCTTTCTTGAGAC -3'
Sequencing Primer
(F):5'- AGCCTAGACCCCCTGTGATC -3'
(R):5'- GCTTTCTTGAGACCAGTAGGAAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation