Incidental Mutation 'IGL02118:Zfp398'
| ID |
280485 |
| 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 # |
IGL02118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
47812595-47850471 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47835879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 14
(D14G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079881]
[ENSMUST00000114598]
|
| AlphaFold |
Q8BV16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079881
AA Change: D146G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078806
Gene: ENSMUSG00000062519
AA Change: D146G
| 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 damaging
Transcript: ENSMUST00000114598
AA Change: D14G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110245
Gene: ENSMUSG00000062519
AA Change: D14G
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,758,865 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Actn2 |
A |
G |
13: 12,291,433 (GRCm39) |
|
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,704,728 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Aldob |
T |
A |
4: 49,538,790 (GRCm39) |
K243* |
probably null |
Het |
| Arfgap1 |
T |
C |
2: 180,622,237 (GRCm39) |
F274S |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cask |
T |
C |
X: 13,425,634 (GRCm39) |
I471V |
probably damaging |
Het |
| Cdc42ep4 |
C |
T |
11: 113,619,942 (GRCm39) |
G150S |
probably benign |
Het |
| Cpne1 |
T |
G |
2: 155,919,563 (GRCm39) |
D278A |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,748,938 (GRCm39) |
E1856G |
probably damaging |
Het |
| Gm8362 |
A |
T |
14: 18,149,595 (GRCm39) |
V159E |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,462,011 (GRCm39) |
I700V |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,309,334 (GRCm39) |
T221A |
probably benign |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,760,037 (GRCm39) |
K24R |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,407,467 (GRCm39) |
L661P |
probably benign |
Het |
| Per2 |
G |
A |
1: 91,352,031 (GRCm39) |
T825I |
probably damaging |
Het |
| Plscr1l1 |
A |
T |
9: 92,233,011 (GRCm39) |
K45* |
probably null |
Het |
| Pramel20 |
A |
T |
4: 143,297,726 (GRCm39) |
T49S |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,025,963 (GRCm39) |
V19A |
probably damaging |
Het |
| Psmb8 |
T |
A |
17: 34,420,198 (GRCm39) |
D263E |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,779,117 (GRCm39) |
I563T |
probably benign |
Het |
| Retreg1 |
T |
G |
15: 25,966,709 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,524,486 (GRCm39) |
T559A |
probably benign |
Het |
| Rnf31 |
T |
G |
14: 55,836,569 (GRCm39) |
I801S |
probably damaging |
Het |
| Rom1 |
G |
T |
19: 8,906,386 (GRCm39) |
T51N |
possibly damaging |
Het |
| Sema6b |
G |
T |
17: 56,439,821 (GRCm39) |
P7T |
probably benign |
Het |
| Stpg1 |
A |
G |
4: 135,235,375 (GRCm39) |
|
probably benign |
Het |
| Sugct |
A |
T |
13: 17,627,105 (GRCm39) |
Y249* |
probably null |
Het |
| Tbc1d21 |
C |
T |
9: 58,267,746 (GRCm39) |
V317M |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,327,628 (GRCm39) |
I125V |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,216,186 (GRCm39) |
D19V |
probably damaging |
Het |
| Tti2 |
T |
A |
8: 31,645,537 (GRCm39) |
|
probably null |
Het |
| Usp32 |
A |
T |
11: 84,923,003 (GRCm39) |
Y142* |
probably null |
Het |
| Vill |
A |
G |
9: 118,889,466 (GRCm39) |
Y134C |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,896,591 (GRCm39) |
Y223H |
probably damaging |
Het |
| Znhit6 |
G |
T |
3: 145,283,859 (GRCm39) |
C43F |
probably damaging |
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 |
|
IGL02454:Zfp398
|
APN |
6 |
47,817,301 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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