Incidental Mutation 'IGL01446:Zfp800'
| ID |
84419 |
| 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 # |
IGL01446
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
28239926-28398004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28242983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 661
(L661F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035930]
[ENSMUST00000115320]
[ENSMUST00000115321]
[ENSMUST00000123098]
[ENSMUST00000155494]
|
| AlphaFold |
Q0VEE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035930
AA Change: L661F
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039222
Gene: ENSMUSG00000039841
AA Change: L661F
| 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 |
possibly damaging
Transcript: ENSMUST00000115320
AA Change: L661F
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110975
Gene: ENSMUSG00000039841
AA Change: L661F
| 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 |
possibly damaging
Transcript: ENSMUST00000115321
AA Change: L661F
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110976
Gene: ENSMUSG00000039841
AA Change: L661F
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Acaca |
A |
G |
11: 84,151,457 (GRCm39) |
K785R |
probably damaging |
Het |
| Acsm3 |
G |
A |
7: 119,377,677 (GRCm39) |
V401M |
probably damaging |
Het |
| Aff4 |
G |
T |
11: 53,306,296 (GRCm39) |
R1146L |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,673,683 (GRCm39) |
P3562T |
probably damaging |
Het |
| Arsj |
A |
G |
3: 126,232,463 (GRCm39) |
E403G |
probably benign |
Het |
| Baiap2l1 |
C |
T |
5: 144,212,723 (GRCm39) |
V431I |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,735,560 (GRCm39) |
M904K |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,943,300 (GRCm39) |
T775S |
probably benign |
Het |
| Dennd1b |
G |
A |
1: 138,950,848 (GRCm39) |
E30K |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,815 (GRCm39) |
D2008G |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,392,672 (GRCm39) |
V460A |
probably damaging |
Het |
| Ell2 |
G |
T |
13: 75,910,110 (GRCm39) |
L285F |
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,314,529 (GRCm39) |
F218L |
probably benign |
Het |
| Fzd9 |
T |
C |
5: 135,279,420 (GRCm39) |
E155G |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,362,837 (GRCm39) |
W212R |
probably damaging |
Het |
| Gulp1 |
A |
G |
1: 44,783,708 (GRCm39) |
|
probably benign |
Het |
| Hdgfl2 |
C |
T |
17: 56,404,281 (GRCm39) |
R332C |
possibly damaging |
Het |
| Lratd1 |
A |
T |
12: 14,199,929 (GRCm39) |
I266N |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,018,530 (GRCm39) |
|
probably benign |
Het |
| Or4c12 |
A |
G |
2: 89,774,282 (GRCm39) |
F59S |
probably damaging |
Het |
| Or5a3 |
T |
C |
19: 12,400,165 (GRCm39) |
I164T |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,616 (GRCm39) |
T237I |
probably benign |
Het |
| Phf11b |
A |
C |
14: 59,578,740 (GRCm39) |
S9A |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,295,407 (GRCm39) |
S854P |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,174,315 (GRCm39) |
D1963N |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,306,042 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,672,811 (GRCm39) |
S235P |
probably damaging |
Het |
| Sgip1 |
G |
T |
4: 102,786,110 (GRCm39) |
|
probably null |
Het |
| Skint5 |
G |
A |
4: 113,800,019 (GRCm39) |
P36L |
probably damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,502,490 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,174,479 (GRCm39) |
C669* |
probably null |
Het |
| Svil |
A |
T |
18: 5,062,385 (GRCm39) |
T902S |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,088,149 (GRCm39) |
S4989P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,640,283 (GRCm39) |
T13775M |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,165,351 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
C |
T |
7: 45,858,380 (GRCm39) |
R636H |
possibly damaging |
Het |
| Usp17lc |
A |
T |
7: 103,067,651 (GRCm39) |
R315S |
probably benign |
Het |
| Vmn1r236 |
T |
A |
17: 21,506,918 (GRCm39) |
V12D |
probably benign |
Het |
| Wsb2 |
T |
G |
5: 117,509,229 (GRCm39) |
I170S |
probably damaging |
Het |
|
| Other mutations in Zfp800 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Zfp800
|
APN |
6 |
28,243,037 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-11-11 |
Incidental Mutation