Incidental Mutation 'IGL02450:Zfp13'
ID |
294120 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp13
|
Ensembl Gene |
ENSMUSG00000062012 |
Gene Name |
zinc finger protein 13 |
Synonyms |
Krox-8, Zfp-13 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
IGL02450
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
23794818-23818461 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 23795072 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 493
(A493T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054595
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057029]
[ENSMUST00000115516]
[ENSMUST00000227952]
|
AlphaFold |
P10754 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057029
AA Change: A493T
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000054595 Gene: ENSMUSG00000062012 AA Change: A493T
Domain | Start | End | E-Value | Type |
KRAB
|
117 |
179 |
7.54e-10 |
SMART |
ZnF_C2H2
|
259 |
281 |
7.37e-4 |
SMART |
ZnF_C2H2
|
287 |
309 |
1.2e-3 |
SMART |
ZnF_C2H2
|
315 |
337 |
5.9e-3 |
SMART |
ZnF_C2H2
|
343 |
365 |
1.26e-2 |
SMART |
ZnF_C2H2
|
371 |
393 |
9.73e-4 |
SMART |
ZnF_C2H2
|
399 |
421 |
2.12e-4 |
SMART |
ZnF_C2H2
|
427 |
449 |
1.18e-2 |
SMART |
ZnF_C2H2
|
455 |
477 |
6.52e-5 |
SMART |
low complexity region
|
480 |
503 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000115516
AA Change: A500T
|
SMART Domains |
Protein: ENSMUSP00000111178 Gene: ENSMUSG00000062012 AA Change: A500T
Domain | Start | End | E-Value | Type |
KRAB
|
124 |
186 |
7.54e-10 |
SMART |
ZnF_C2H2
|
266 |
288 |
7.37e-4 |
SMART |
ZnF_C2H2
|
294 |
316 |
1.2e-3 |
SMART |
ZnF_C2H2
|
322 |
344 |
5.9e-3 |
SMART |
ZnF_C2H2
|
350 |
372 |
1.26e-2 |
SMART |
ZnF_C2H2
|
378 |
400 |
9.73e-4 |
SMART |
ZnF_C2H2
|
406 |
428 |
2.12e-4 |
SMART |
ZnF_C2H2
|
434 |
456 |
1.18e-2 |
SMART |
ZnF_C2H2
|
462 |
484 |
6.52e-5 |
SMART |
low complexity region
|
487 |
510 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226550
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228942
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco2 |
A |
G |
15: 81,798,963 (GRCm39) |
*781W |
probably null |
Het |
Adamts16 |
C |
A |
13: 70,984,419 (GRCm39) |
R81S |
probably damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,546,855 (GRCm39) |
D386G |
probably benign |
Het |
Anxa6 |
G |
A |
11: 54,885,767 (GRCm39) |
R393W |
probably damaging |
Het |
Bdnf |
G |
A |
2: 109,553,949 (GRCm39) |
V108I |
possibly damaging |
Het |
Bpgm |
C |
T |
6: 34,464,399 (GRCm39) |
R39W |
probably damaging |
Het |
Cd101 |
T |
C |
3: 100,901,054 (GRCm39) |
E1006G |
probably damaging |
Het |
Cd109 |
A |
T |
9: 78,603,132 (GRCm39) |
E972V |
possibly damaging |
Het |
Cdhr3 |
T |
A |
12: 33,132,224 (GRCm39) |
Q133L |
probably benign |
Het |
Cdk5r1 |
C |
T |
11: 80,368,666 (GRCm39) |
A111V |
probably benign |
Het |
Cnga4 |
A |
T |
7: 105,054,955 (GRCm39) |
I77F |
probably damaging |
Het |
Egfem1 |
G |
A |
3: 29,711,417 (GRCm39) |
|
probably null |
Het |
Fbxl21 |
T |
A |
13: 56,674,766 (GRCm39) |
V39D |
possibly damaging |
Het |
Gimap6 |
T |
C |
6: 48,681,351 (GRCm39) |
I94M |
probably benign |
Het |
Glis1 |
T |
C |
4: 107,484,726 (GRCm39) |
V407A |
probably benign |
Het |
Gm5784 |
C |
T |
12: 19,437,970 (GRCm39) |
|
noncoding transcript |
Het |
Gm9839 |
A |
T |
1: 32,559,964 (GRCm39) |
|
probably benign |
Het |
Heatr5a |
T |
A |
12: 51,992,213 (GRCm39) |
M566L |
probably benign |
Het |
Jph1 |
G |
A |
1: 17,074,201 (GRCm39) |
P606S |
possibly damaging |
Het |
Jup |
C |
T |
11: 100,269,183 (GRCm39) |
C410Y |
probably damaging |
Het |
Kif23 |
A |
G |
9: 61,831,239 (GRCm39) |
M777T |
probably benign |
Het |
Lifr |
G |
T |
15: 7,220,246 (GRCm39) |
D959Y |
probably damaging |
Het |
Lsm1 |
C |
A |
8: 26,283,806 (GRCm39) |
L73I |
possibly damaging |
Het |
Maneal |
G |
A |
4: 124,750,928 (GRCm39) |
A276V |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,142,635 (GRCm39) |
D932G |
probably damaging |
Het |
Nipbl |
C |
T |
15: 8,373,058 (GRCm39) |
V1063M |
probably damaging |
Het |
Nlrx1 |
A |
G |
9: 44,164,798 (GRCm39) |
V882A |
probably benign |
Het |
Obox6 |
A |
G |
7: 15,567,638 (GRCm39) |
C270R |
probably damaging |
Het |
Or13a19 |
A |
G |
7: 139,903,140 (GRCm39) |
H176R |
possibly damaging |
Het |
Pard3b |
A |
G |
1: 62,571,835 (GRCm39) |
I925V |
possibly damaging |
Het |
Pdhx |
A |
G |
2: 102,872,594 (GRCm39) |
S163P |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,331,461 (GRCm39) |
D271G |
probably damaging |
Het |
Plec |
A |
G |
15: 76,075,515 (GRCm39) |
I399T |
probably damaging |
Het |
Pthlh |
T |
G |
6: 147,158,666 (GRCm39) |
D98A |
possibly damaging |
Het |
Spata31f3 |
A |
G |
4: 42,874,127 (GRCm39) |
S14P |
probably benign |
Het |
Spock3 |
T |
A |
8: 63,698,249 (GRCm39) |
|
probably null |
Het |
Tgtp2 |
C |
T |
11: 48,950,317 (GRCm39) |
G85D |
probably benign |
Het |
Tmem94 |
A |
G |
11: 115,683,897 (GRCm39) |
D739G |
probably damaging |
Het |
Washc5 |
G |
A |
15: 59,204,166 (GRCm39) |
R706* |
probably null |
Het |
Zscan20 |
G |
T |
4: 128,480,450 (GRCm39) |
D680E |
probably damaging |
Het |
|
Other mutations in Zfp13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02236:Zfp13
|
APN |
17 |
23,799,739 (GRCm39) |
splice site |
probably benign |
|
IGL02447:Zfp13
|
APN |
17 |
23,795,072 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02449:Zfp13
|
APN |
17 |
23,795,072 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02466:Zfp13
|
APN |
17 |
23,795,072 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02468:Zfp13
|
APN |
17 |
23,795,072 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02471:Zfp13
|
APN |
17 |
23,795,072 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02473:Zfp13
|
APN |
17 |
23,795,072 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02474:Zfp13
|
APN |
17 |
23,795,072 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02475:Zfp13
|
APN |
17 |
23,795,072 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02491:Zfp13
|
APN |
17 |
23,795,072 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02511:Zfp13
|
APN |
17 |
23,795,072 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02558:Zfp13
|
APN |
17 |
23,795,072 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03030:Zfp13
|
APN |
17 |
23,799,819 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03388:Zfp13
|
APN |
17 |
23,795,888 (GRCm39) |
missense |
probably benign |
0.00 |
R0053:Zfp13
|
UTSW |
17 |
23,795,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R0053:Zfp13
|
UTSW |
17 |
23,795,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Zfp13
|
UTSW |
17 |
23,795,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R2420:Zfp13
|
UTSW |
17 |
23,795,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R3433:Zfp13
|
UTSW |
17 |
23,795,602 (GRCm39) |
missense |
probably damaging |
0.99 |
R4458:Zfp13
|
UTSW |
17 |
23,800,150 (GRCm39) |
missense |
probably benign |
0.01 |
R4650:Zfp13
|
UTSW |
17 |
23,799,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R4824:Zfp13
|
UTSW |
17 |
23,795,797 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5088:Zfp13
|
UTSW |
17 |
23,796,035 (GRCm39) |
nonsense |
probably null |
|
R5110:Zfp13
|
UTSW |
17 |
23,799,834 (GRCm39) |
missense |
probably benign |
0.02 |
R5384:Zfp13
|
UTSW |
17 |
23,800,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R7302:Zfp13
|
UTSW |
17 |
23,800,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R8443:Zfp13
|
UTSW |
17 |
23,795,866 (GRCm39) |
missense |
probably benign |
|
R9728:Zfp13
|
UTSW |
17 |
23,799,788 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Posted On |
2015-04-16 |