Incidental Mutation 'IGL01543:Zfp398'
| ID |
90208 |
| 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 # |
IGL01543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
47812595-47850471 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 47842997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 350
(G350S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079881]
[ENSMUST00000114598]
|
| AlphaFold |
Q8BV16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079881
AA Change: G350S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078806
Gene: ENSMUSG00000062519
AA Change: G350S
| 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: G218S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110245
Gene: ENSMUSG00000062519
AA Change: G218S
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
T |
C |
3: 59,932,097 (GRCm39) |
I204T |
probably benign |
Het |
| Abhd16a |
T |
C |
17: 35,310,013 (GRCm39) |
S69P |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 103,003,029 (GRCm39) |
T582I |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,409,033 (GRCm39) |
F1825I |
unknown |
Het |
| Asxl1 |
G |
A |
2: 153,243,404 (GRCm39) |
G1318D |
probably benign |
Het |
| B4galnt3 |
G |
A |
6: 120,186,273 (GRCm39) |
H807Y |
probably benign |
Het |
| Bpifb5 |
G |
T |
2: 154,075,169 (GRCm39) |
V366F |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
| Ccdc152 |
G |
A |
15: 3,327,606 (GRCm39) |
T57I |
possibly damaging |
Het |
| Ccs |
T |
C |
19: 4,884,269 (GRCm39) |
E61G |
possibly damaging |
Het |
| Chsy3 |
G |
A |
18: 59,543,472 (GRCm39) |
W870* |
probably null |
Het |
| Col8a1 |
G |
A |
16: 57,448,097 (GRCm39) |
P471L |
unknown |
Het |
| Cyp2j6 |
A |
C |
4: 96,414,161 (GRCm39) |
V368G |
possibly damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,198,274 (GRCm39) |
|
probably null |
Het |
| Dpep3 |
A |
T |
8: 106,702,814 (GRCm39) |
M316K |
probably damaging |
Het |
| Galntl5 |
A |
G |
5: 25,400,349 (GRCm39) |
E126G |
probably damaging |
Het |
| Gli1 |
T |
C |
10: 127,168,347 (GRCm39) |
N502S |
probably damaging |
Het |
| Hus1 |
A |
G |
11: 8,950,082 (GRCm39) |
L213P |
probably benign |
Het |
| Hypk |
A |
G |
2: 121,287,776 (GRCm39) |
|
probably null |
Het |
| Igkv4-59 |
T |
A |
6: 69,415,345 (GRCm39) |
Y70F |
probably damaging |
Het |
| Impdh1 |
A |
C |
6: 29,203,377 (GRCm39) |
V14G |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,506,526 (GRCm39) |
M201V |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,295,250 (GRCm39) |
I5323T |
probably damaging |
Het |
| Mmp16 |
C |
T |
4: 18,051,743 (GRCm39) |
A244V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,932,943 (GRCm39) |
D5619G |
probably benign |
Het |
| Or2ag20 |
T |
C |
7: 106,465,125 (GRCm39) |
S313P |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,878,107 (GRCm39) |
V554A |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,203,101 (GRCm39) |
E1513G |
probably damaging |
Het |
| Rab6b |
A |
G |
9: 103,039,837 (GRCm39) |
D75G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,790,501 (GRCm39) |
Y1435C |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,620,413 (GRCm39) |
N81S |
probably damaging |
Het |
| Six5 |
G |
A |
7: 18,830,272 (GRCm39) |
A300T |
possibly damaging |
Het |
| Skap2 |
T |
A |
6: 51,989,375 (GRCm39) |
N3Y |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,757,160 (GRCm39) |
S734T |
probably benign |
Het |
| Slc15a4 |
A |
C |
5: 127,680,830 (GRCm39) |
H396Q |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 97,053,553 (GRCm39) |
M116T |
possibly damaging |
Het |
| Slfn9 |
T |
C |
11: 82,878,775 (GRCm39) |
D118G |
probably benign |
Het |
| Trim3 |
T |
C |
7: 105,262,520 (GRCm39) |
D546G |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,970,300 (GRCm39) |
L362P |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,467,756 (GRCm39) |
T568A |
possibly damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,414,466 (GRCm39) |
M281V |
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,210,000 (GRCm39) |
E126G |
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 |
|
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation