Incidental Mutation 'IGL01950:Zfp503'
| ID |
181294 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp503
|
| Ensembl Gene |
ENSMUSG00000039081 |
| Gene Name |
zinc finger protein 503 |
| Synonyms |
ZNF503, Nolz-1, B830002A16Rik, Zpo2, Nolz1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
22034030-22039669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 22036488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 143
(A143S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043409]
|
| AlphaFold |
Q7TMA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043409
AA Change: A143S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000046641
Gene: ENSMUSG00000039081
AA Change: A143S
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adm |
G |
A |
7: 110,228,107 (GRCm39) |
R96H |
probably damaging |
Het |
| Aebp1 |
C |
T |
11: 5,819,108 (GRCm39) |
T198I |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,702,257 (GRCm39) |
I500N |
probably damaging |
Het |
| Clec1b |
T |
A |
6: 129,377,043 (GRCm39) |
W29R |
probably damaging |
Het |
| Cyp2e1 |
T |
C |
7: 140,344,874 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,290,435 (GRCm39) |
E1275G |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,067,631 (GRCm39) |
I1171N |
possibly damaging |
Het |
| Dpf3 |
T |
G |
12: 83,371,723 (GRCm39) |
T171P |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
| Kcnc2 |
T |
G |
10: 112,297,980 (GRCm39) |
|
probably benign |
Het |
| Kcnj11 |
A |
T |
7: 45,748,573 (GRCm39) |
F250Y |
probably damaging |
Het |
| Kirrel3 |
C |
T |
9: 34,939,625 (GRCm39) |
|
probably benign |
Het |
| Lmbrd1 |
T |
C |
1: 24,750,683 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
C |
2: 119,772,135 (GRCm39) |
V1665A |
possibly damaging |
Het |
| Ms4a3 |
G |
T |
19: 11,610,199 (GRCm39) |
A121E |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,440,415 (GRCm39) |
*392W |
probably null |
Het |
| Noxred1 |
C |
T |
12: 87,268,190 (GRCm39) |
V314M |
probably damaging |
Het |
| Or2t47 |
A |
T |
11: 58,442,560 (GRCm39) |
C168* |
probably null |
Het |
| Or51aa5 |
T |
A |
7: 103,167,472 (GRCm39) |
T40S |
probably benign |
Het |
| Phospho1 |
A |
G |
11: 95,719,548 (GRCm39) |
|
probably benign |
Het |
| Prr5 |
G |
A |
15: 84,650,550 (GRCm39) |
A237T |
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,697,153 (GRCm39) |
T550M |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,965,032 (GRCm39) |
F955L |
probably benign |
Het |
| Slc38a9 |
C |
T |
13: 112,831,787 (GRCm39) |
T179M |
probably damaging |
Het |
| Trpv5 |
T |
G |
6: 41,652,912 (GRCm39) |
D87A |
probably benign |
Het |
| Tubgcp5 |
A |
G |
7: 55,455,836 (GRCm39) |
Q288R |
possibly damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,700,058 (GRCm39) |
Y172H |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,845 (GRCm39) |
F733L |
possibly damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,264,827 (GRCm39) |
Y53C |
probably damaging |
Het |
| Vwa5a |
T |
A |
9: 38,638,266 (GRCm39) |
M263K |
probably damaging |
Het |
| Zfp958 |
T |
C |
8: 4,678,917 (GRCm39) |
L314P |
probably damaging |
Het |
|
| Other mutations in Zfp503 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2414:Zfp503
|
UTSW |
14 |
22,036,032 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation