Incidental Mutation 'IGL02454:Zfp398'
| ID |
293760 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp398
|
| Ensembl Gene |
ENSMUSG00000062519 |
| Gene Name |
zinc finger protein 398 |
| Synonyms |
5730513I23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02454
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
47812595-47850471 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47817301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 47
(V47A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079881]
[ENSMUST00000114598]
|
| AlphaFold |
Q8BV16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079881
AA Change: V47A
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078806
Gene: ENSMUSG00000062519
AA Change: V47A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
|
Pfam:DUF3669
|
43 |
113 |
2.9e-10 |
PFAM |
|
KRAB
|
143 |
203 |
1.38e-17 |
SMART |
|
low complexity region
|
278 |
296 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
344 |
365 |
6.31e1 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
428 |
450 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
456 |
478 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
484 |
506 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
512 |
534 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
540 |
562 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
568 |
591 |
5.14e-3 |
SMART |
|
low complexity region
|
598 |
611 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114598
|
| SMART Domains |
Protein: ENSMUSP00000110245
Gene: ENSMUSG00000062519
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
11 |
71 |
1.38e-17 |
SMART |
|
low complexity region
|
146 |
164 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
212 |
233 |
6.31e1 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
436 |
459 |
5.14e-3 |
SMART |
|
low complexity region
|
466 |
479 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146202
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amz2 |
T |
G |
11: 109,324,887 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,051,560 (GRCm39) |
F1104S |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,579,141 (GRCm39) |
N1610S |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,864,318 (GRCm39) |
D122E |
probably damaging |
Het |
| Crtc2 |
G |
A |
3: 90,166,474 (GRCm39) |
G65S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,971,593 (GRCm39) |
T2160A |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,032,483 (GRCm39) |
L278R |
probably damaging |
Het |
| Foxp4 |
A |
T |
17: 48,186,507 (GRCm39) |
L424* |
probably null |
Het |
| Gm10392 |
A |
T |
11: 77,409,216 (GRCm39) |
E310V |
probably damaging |
Het |
| Gm11554 |
T |
A |
11: 99,694,815 (GRCm39) |
S133C |
unknown |
Het |
| Hacd2 |
T |
A |
16: 34,926,761 (GRCm39) |
F253L |
probably benign |
Het |
| Il3ra |
T |
C |
14: 14,351,113 (GRCm38) |
S212P |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,694,674 (GRCm39) |
|
probably null |
Het |
| Mtfr1l |
A |
T |
4: 134,257,696 (GRCm39) |
L111H |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,858,741 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
C |
A |
1: 173,098,507 (GRCm39) |
S255Y |
probably damaging |
Het |
| Or52d1 |
T |
C |
7: 103,755,819 (GRCm39) |
V111A |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,075,231 (GRCm39) |
F357I |
probably damaging |
Het |
| Polr3a |
C |
A |
14: 24,525,891 (GRCm39) |
V450L |
possibly damaging |
Het |
| Prkd1 |
T |
C |
12: 50,411,456 (GRCm39) |
K764R |
probably benign |
Het |
| Pxn |
C |
T |
5: 115,690,325 (GRCm39) |
P256S |
probably damaging |
Het |
| Rbm25 |
T |
A |
12: 83,707,096 (GRCm39) |
F247L |
probably benign |
Het |
| Rfx4 |
C |
T |
10: 84,675,970 (GRCm39) |
T62M |
possibly damaging |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,499 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
A |
G |
9: 119,587,610 (GRCm39) |
I1378T |
probably benign |
Het |
| Siglecg |
T |
C |
7: 43,058,319 (GRCm39) |
S69P |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,503,605 (GRCm39) |
Y61C |
probably damaging |
Het |
| Tex55 |
T |
A |
16: 38,648,309 (GRCm39) |
T267S |
probably benign |
Het |
| Tnks |
C |
T |
8: 35,298,882 (GRCm39) |
|
probably benign |
Het |
| Tpr |
A |
G |
1: 150,306,943 (GRCm39) |
S1587G |
probably benign |
Het |
| Trappc6b |
A |
G |
12: 59,090,433 (GRCm39) |
*97Q |
probably null |
Het |
| Usf3 |
T |
C |
16: 44,037,545 (GRCm39) |
V675A |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,929,299 (GRCm39) |
T1045M |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,552,254 (GRCm39) |
C618S |
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,134,211 (GRCm39) |
N423S |
probably benign |
Het |
|
| Other mutations in Zfp398 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Zfp398
|
APN |
6 |
47,842,868 (GRCm39) |
missense |
probably benign |
|
|
IGL01543:Zfp398
|
APN |
6 |
47,842,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01822:Zfp398
|
APN |
6 |
47,843,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Zfp398
|
APN |
6 |
47,835,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02725:Zfp398
|
APN |
6 |
47,842,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0453:Zfp398
|
UTSW |
6 |
47,842,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0635:Zfp398
|
UTSW |
6 |
47,840,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Zfp398
|
UTSW |
6 |
47,836,412 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2366:Zfp398
|
UTSW |
6 |
47,840,143 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2696:Zfp398
|
UTSW |
6 |
47,843,879 (GRCm39) |
makesense |
probably null |
|
|
R4090:Zfp398
|
UTSW |
6 |
47,843,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4157:Zfp398
|
UTSW |
6 |
47,812,843 (GRCm39) |
missense |
probably benign |
|
|
R4610:Zfp398
|
UTSW |
6 |
47,817,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Zfp398
|
UTSW |
6 |
47,817,186 (GRCm39) |
missense |
probably benign |
|
|
R4849:Zfp398
|
UTSW |
6 |
47,836,446 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5166:Zfp398
|
UTSW |
6 |
47,842,838 (GRCm39) |
missense |
probably benign |
|
|
R5289:Zfp398
|
UTSW |
6 |
47,840,115 (GRCm39) |
missense |
probably benign |
|
|
R5877:Zfp398
|
UTSW |
6 |
47,817,638 (GRCm39) |
intron |
probably benign |
|
|
R6326:Zfp398
|
UTSW |
6 |
47,843,355 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6383:Zfp398
|
UTSW |
6 |
47,843,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6825:Zfp398
|
UTSW |
6 |
47,843,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6882:Zfp398
|
UTSW |
6 |
47,843,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7038:Zfp398
|
UTSW |
6 |
47,843,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7114:Zfp398
|
UTSW |
6 |
47,842,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7386:Zfp398
|
UTSW |
6 |
47,835,884 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7519:Zfp398
|
UTSW |
6 |
47,836,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7525:Zfp398
|
UTSW |
6 |
47,842,752 (GRCm39) |
missense |
probably benign |
|
|
R7571:Zfp398
|
UTSW |
6 |
47,843,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8374:Zfp398
|
UTSW |
6 |
47,836,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9055:Zfp398
|
UTSW |
6 |
47,843,319 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1176:Zfp398
|
UTSW |
6 |
47,843,789 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation