Incidental Mutation 'IGL00330:Zfp800'
ID |
6373 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp800
|
Ensembl Gene |
ENSMUSG00000039841 |
Gene Name |
zinc finger protein 800 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.593)
|
Stock # |
IGL00330
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
28239926-28398004 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28243037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 643
(T643S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035930]
[ENSMUST00000115320]
[ENSMUST00000115321]
[ENSMUST00000123098]
[ENSMUST00000155494]
|
AlphaFold |
Q0VEE6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035930
AA Change: T643S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039222 Gene: ENSMUSG00000039841 AA Change: T643S
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
69 |
89 |
8.18e1 |
SMART |
low complexity region
|
203 |
217 |
N/A |
INTRINSIC |
ZnF_C2H2
|
231 |
254 |
3.83e-2 |
SMART |
ZnF_C2H2
|
288 |
311 |
1.76e-1 |
SMART |
ZnF_C2H2
|
359 |
382 |
1.76e-1 |
SMART |
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
ZnF_C2H2
|
484 |
506 |
2.36e-2 |
SMART |
ZnF_C2H2
|
517 |
540 |
5.14e-3 |
SMART |
ZnF_C2H2
|
616 |
638 |
1.67e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115320
AA Change: T643S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110975 Gene: ENSMUSG00000039841 AA Change: T643S
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
69 |
89 |
8.18e1 |
SMART |
low complexity region
|
203 |
217 |
N/A |
INTRINSIC |
ZnF_C2H2
|
231 |
254 |
3.83e-2 |
SMART |
ZnF_C2H2
|
288 |
311 |
1.76e-1 |
SMART |
ZnF_C2H2
|
359 |
382 |
1.76e-1 |
SMART |
Pfam:zf-C2H2_assoc2
|
391 |
483 |
2.9e-38 |
PFAM |
ZnF_C2H2
|
484 |
506 |
2.36e-2 |
SMART |
ZnF_C2H2
|
517 |
540 |
5.14e-3 |
SMART |
ZnF_C2H2
|
616 |
638 |
1.67e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115321
AA Change: T643S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110976 Gene: ENSMUSG00000039841 AA Change: T643S
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
69 |
89 |
8.18e1 |
SMART |
low complexity region
|
203 |
217 |
N/A |
INTRINSIC |
ZnF_C2H2
|
231 |
254 |
3.83e-2 |
SMART |
ZnF_C2H2
|
288 |
311 |
1.76e-1 |
SMART |
ZnF_C2H2
|
359 |
382 |
1.76e-1 |
SMART |
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
ZnF_C2H2
|
484 |
506 |
2.36e-2 |
SMART |
ZnF_C2H2
|
517 |
540 |
5.14e-3 |
SMART |
ZnF_C2H2
|
616 |
638 |
1.67e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123098
|
SMART Domains |
Protein: ENSMUSP00000114604 Gene: ENSMUSG00000039841
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
69 |
89 |
8.18e1 |
SMART |
low complexity region
|
203 |
217 |
N/A |
INTRINSIC |
ZnF_C2H2
|
231 |
254 |
3.83e-2 |
SMART |
ZnF_C2H2
|
288 |
311 |
1.76e-1 |
SMART |
ZnF_C2H2
|
359 |
382 |
1.76e-1 |
SMART |
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143099
|
SMART Domains |
Protein: ENSMUSP00000133161 Gene: ENSMUSG00000043340
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
48 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155494
|
SMART Domains |
Protein: ENSMUSP00000120392 Gene: ENSMUSG00000039841
Domain | Start | End | E-Value | Type |
Pfam:zf-C2H2_6
|
68 |
94 |
1.9e-10 |
PFAM |
|
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 |
A130010J15Rik |
T |
G |
1: 192,857,087 (GRCm39) |
D146E |
probably benign |
Het |
Alpi |
A |
T |
1: 87,027,442 (GRCm39) |
L308Q |
probably damaging |
Het |
Bhmt2 |
A |
T |
13: 93,803,279 (GRCm39) |
|
probably benign |
Het |
Bsn |
T |
C |
9: 107,992,539 (GRCm39) |
E1071G |
probably damaging |
Het |
Car3 |
A |
T |
3: 14,933,439 (GRCm39) |
N128Y |
probably benign |
Het |
Cdkl2 |
C |
T |
5: 92,165,236 (GRCm39) |
|
probably null |
Het |
Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,821,767 (GRCm39) |
|
probably benign |
Het |
Gpr149 |
T |
G |
3: 62,438,094 (GRCm39) |
I688L |
probably damaging |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Kif19a |
G |
A |
11: 114,670,411 (GRCm39) |
G107D |
probably damaging |
Het |
Loxhd1 |
A |
C |
18: 77,483,146 (GRCm39) |
R1242S |
probably damaging |
Het |
Ms4a6c |
T |
C |
19: 11,455,676 (GRCm39) |
Y162H |
probably benign |
Het |
Msrb2 |
G |
T |
2: 19,376,510 (GRCm39) |
R6L |
unknown |
Het |
Myh2 |
A |
G |
11: 67,084,266 (GRCm39) |
N1630D |
probably benign |
Het |
Myrf |
A |
G |
19: 10,201,877 (GRCm39) |
V200A |
probably benign |
Het |
Ncor2 |
A |
G |
5: 125,119,807 (GRCm39) |
|
probably null |
Het |
Nrg1 |
T |
A |
8: 32,308,117 (GRCm39) |
Q621L |
probably damaging |
Het |
Or11h6 |
G |
A |
14: 50,880,625 (GRCm39) |
A296T |
probably benign |
Het |
Or5bw2 |
A |
T |
7: 6,573,667 (GRCm39) |
I226F |
possibly damaging |
Het |
Pfkp |
A |
G |
13: 6,669,586 (GRCm39) |
F211S |
probably damaging |
Het |
Pramex1 |
T |
C |
X: 134,515,258 (GRCm39) |
N273S |
probably benign |
Het |
Prss1l |
T |
C |
6: 41,371,707 (GRCm39) |
L51P |
probably damaging |
Het |
Pwwp3b |
A |
G |
X: 138,136,443 (GRCm39) |
D327G |
probably damaging |
Het |
Rnh1 |
G |
A |
7: 140,746,644 (GRCm39) |
A49V |
possibly damaging |
Het |
Serhl |
C |
T |
15: 82,988,574 (GRCm39) |
S167F |
probably benign |
Het |
Skint1 |
T |
C |
4: 111,878,777 (GRCm39) |
|
probably null |
Het |
Taar7b |
A |
C |
10: 23,876,740 (GRCm39) |
I302L |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,624,832 (GRCm39) |
F1706S |
probably benign |
Het |
Zfp106 |
G |
A |
2: 120,369,978 (GRCm39) |
P15S |
probably benign |
Het |
Zfp385b |
T |
C |
2: 77,307,122 (GRCm39) |
Q167R |
probably damaging |
Het |
|
Other mutations in Zfp800 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01446:Zfp800
|
APN |
6 |
28,242,983 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01462:Zfp800
|
APN |
6 |
28,242,983 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0195:Zfp800
|
UTSW |
6 |
28,243,846 (GRCm39) |
missense |
probably damaging |
0.99 |
R1942:Zfp800
|
UTSW |
6 |
28,243,272 (GRCm39) |
missense |
probably benign |
0.00 |
R4204:Zfp800
|
UTSW |
6 |
28,243,180 (GRCm39) |
missense |
probably benign |
|
R4981:Zfp800
|
UTSW |
6 |
28,247,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R5281:Zfp800
|
UTSW |
6 |
28,243,165 (GRCm39) |
missense |
probably benign |
0.05 |
R5339:Zfp800
|
UTSW |
6 |
28,256,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R5391:Zfp800
|
UTSW |
6 |
28,242,992 (GRCm39) |
missense |
probably damaging |
0.97 |
R5614:Zfp800
|
UTSW |
6 |
28,243,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R5665:Zfp800
|
UTSW |
6 |
28,244,512 (GRCm39) |
missense |
probably null |
0.10 |
R6349:Zfp800
|
UTSW |
6 |
28,244,601 (GRCm39) |
nonsense |
probably null |
|
R6458:Zfp800
|
UTSW |
6 |
28,244,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R7219:Zfp800
|
UTSW |
6 |
28,243,662 (GRCm39) |
missense |
probably benign |
0.00 |
R7263:Zfp800
|
UTSW |
6 |
28,243,662 (GRCm39) |
missense |
probably benign |
0.00 |
R7420:Zfp800
|
UTSW |
6 |
28,243,718 (GRCm39) |
missense |
probably benign |
|
R7457:Zfp800
|
UTSW |
6 |
28,244,228 (GRCm39) |
missense |
probably benign |
0.00 |
R7582:Zfp800
|
UTSW |
6 |
28,244,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R7597:Zfp800
|
UTSW |
6 |
28,260,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R7685:Zfp800
|
UTSW |
6 |
28,244,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R8321:Zfp800
|
UTSW |
6 |
28,242,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R8757:Zfp800
|
UTSW |
6 |
28,244,270 (GRCm39) |
missense |
probably benign |
0.14 |
R9076:Zfp800
|
UTSW |
6 |
28,243,215 (GRCm39) |
missense |
probably benign |
0.01 |
R9183:Zfp800
|
UTSW |
6 |
28,243,172 (GRCm39) |
missense |
probably benign |
0.00 |
R9372:Zfp800
|
UTSW |
6 |
28,256,433 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9411:Zfp800
|
UTSW |
6 |
28,243,430 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Posted On |
2012-04-20 |