Incidental Mutation 'R2414:Zfp503'
| ID |
250115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp503
|
| Ensembl Gene |
ENSMUSG00000039081 |
| Gene Name |
zinc finger protein 503 |
| Synonyms |
ZNF503, Nolz-1, B830002A16Rik, Zpo2, Nolz1 |
| MMRRC Submission |
040378-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
22034030-22039669 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 22036032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 295
(G295*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043409]
|
| AlphaFold |
Q7TMA2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043409
AA Change: G295*
|
| SMART Domains |
Protein: ENSMUSP00000046641
Gene: ENSMUSG00000039081
AA Change: G295*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
336 |
N/A |
INTRINSIC |
|
Pfam:nlz1
|
361 |
421 |
7.7e-32 |
PFAM |
|
low complexity region
|
442 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
503 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
520 |
548 |
9.71e0 |
SMART |
|
low complexity region
|
563 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
631 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
C |
A |
9: 121,738,040 (GRCm39) |
S138R |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,687,424 (GRCm39) |
E216G |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,762,484 (GRCm39) |
|
probably null |
Het |
| BC002059 |
T |
C |
17: 17,193,932 (GRCm39) |
|
noncoding transcript |
Het |
| Cep112 |
A |
G |
11: 108,643,408 (GRCm39) |
N799S |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,181,927 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,079,392 (GRCm39) |
E103G |
probably benign |
Het |
| Cpt1b |
G |
A |
15: 89,304,283 (GRCm39) |
|
probably benign |
Het |
| Epor |
T |
A |
9: 21,870,785 (GRCm39) |
D365V |
probably damaging |
Het |
| H2bc21 |
T |
A |
3: 96,128,750 (GRCm39) |
I90N |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,306 (GRCm39) |
Y900H |
probably damaging |
Het |
| Hoxc9 |
A |
T |
15: 102,892,540 (GRCm39) |
N251I |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,315,587 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,688,711 (GRCm39) |
I197L |
probably benign |
Het |
| Msi2 |
A |
G |
11: 88,607,373 (GRCm39) |
V78A |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,594 (GRCm39) |
I818V |
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,956,629 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,496,582 (GRCm39) |
N362S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,945,054 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,289,831 (GRCm39) |
|
probably null |
Het |
| Sgsm3 |
A |
G |
15: 80,890,946 (GRCm39) |
N136D |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,181,976 (GRCm39) |
C583R |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,806,295 (GRCm39) |
W13R |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,658,954 (GRCm39) |
W276R |
possibly damaging |
Het |
| Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
G |
17: 72,023,304 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,869,546 (GRCm39) |
S31P |
unknown |
Het |
| Ttll8 |
A |
G |
15: 88,820,336 (GRCm39) |
|
probably benign |
Het |
| Tub |
A |
G |
7: 108,626,240 (GRCm39) |
K259E |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,439,683 (GRCm39) |
I162M |
probably benign |
Het |
| Vamp8 |
C |
T |
6: 72,365,326 (GRCm39) |
M1I |
probably null |
Het |
|
| Other mutations in Zfp503 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01950:Zfp503
|
APN |
14 |
22,036,488 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02086:Zfp503
|
APN |
14 |
22,037,354 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02824:Zfp503
|
APN |
14 |
22,035,162 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0317:Zfp503
|
UTSW |
14 |
22,036,527 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1640:Zfp503
|
UTSW |
14 |
22,034,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1786:Zfp503
|
UTSW |
14 |
22,035,588 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5181:Zfp503
|
UTSW |
14 |
22,035,705 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5299:Zfp503
|
UTSW |
14 |
22,035,507 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5994:Zfp503
|
UTSW |
14 |
22,035,630 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6209:Zfp503
|
UTSW |
14 |
22,035,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6267:Zfp503
|
UTSW |
14 |
22,035,868 (GRCm39) |
nonsense |
probably null |
|
|
R6296:Zfp503
|
UTSW |
14 |
22,035,868 (GRCm39) |
nonsense |
probably null |
|
|
R6714:Zfp503
|
UTSW |
14 |
22,035,825 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6865:Zfp503
|
UTSW |
14 |
22,036,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7206:Zfp503
|
UTSW |
14 |
22,035,553 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7466:Zfp503
|
UTSW |
14 |
22,036,079 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7994:Zfp503
|
UTSW |
14 |
22,035,074 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8000:Zfp503
|
UTSW |
14 |
22,036,227 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8083:Zfp503
|
UTSW |
14 |
22,036,132 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8184:Zfp503
|
UTSW |
14 |
22,036,019 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8443:Zfp503
|
UTSW |
14 |
22,036,277 (GRCm39) |
missense |
probably benign |
|
|
R8859:Zfp503
|
UTSW |
14 |
22,037,286 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9127:Zfp503
|
UTSW |
14 |
22,037,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9324:Zfp503
|
UTSW |
14 |
22,035,353 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9567:Zfp503
|
UTSW |
14 |
22,036,041 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1176:Zfp503
|
UTSW |
14 |
22,035,801 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGTTTGTAGGGAGATACCG -3'
(R):5'- GCAGAGAAGTCAGGATTCCG -3'
Sequencing Primer
(F):5'- TAGGGAGATACCGGGGCCAC -3'
(R):5'- CATTTACGCCCAGGACAGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation