Incidental Mutation 'R4204:Zfp800'
| ID |
318828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp800
|
| Ensembl Gene |
ENSMUSG00000039841 |
| Gene Name |
zinc finger protein 800 |
| Synonyms |
|
| MMRRC Submission |
041033-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.593)
|
| Stock # |
R4204 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
28239926-28398004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28243180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 595
(S595N)
|
| 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: S595N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039222
Gene: ENSMUSG00000039841
AA Change: S595N
| 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: S595N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110975
Gene: ENSMUSG00000039841
AA Change: S595N
| 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: S595N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110976
Gene: ENSMUSG00000039841
AA Change: S595N
| 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 |
|
| Meta Mutation Damage Score |
0.0584 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,090,369 (GRCm39) |
K360R |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| B130006D01Rik |
A |
G |
11: 95,617,250 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
A |
T |
3: 95,797,057 (GRCm39) |
Y37* |
probably null |
Het |
| Ccdc171 |
A |
T |
4: 83,599,392 (GRCm39) |
M736L |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,413,399 (GRCm39) |
K646E |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,410,335 (GRCm39) |
T192A |
probably benign |
Het |
| Hgs |
C |
A |
11: 120,368,013 (GRCm39) |
P241T |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,109,505 (GRCm39) |
Y235H |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,706,923 (GRCm39) |
Y32H |
probably damaging |
Het |
| Kprp |
A |
C |
3: 92,732,046 (GRCm39) |
S335A |
probably damaging |
Het |
| Lgals9 |
C |
T |
11: 78,860,642 (GRCm39) |
|
probably benign |
Het |
| Mfrp |
G |
A |
9: 44,016,525 (GRCm39) |
G407S |
possibly damaging |
Het |
| Mfsd9 |
C |
T |
1: 40,820,670 (GRCm39) |
G160R |
probably damaging |
Het |
| Mrtfb |
A |
T |
16: 13,221,119 (GRCm39) |
Q776L |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,745,256 (GRCm39) |
Y35C |
probably damaging |
Het |
| Nhej1 |
A |
T |
1: 75,085,782 (GRCm39) |
I6N |
probably damaging |
Het |
| Npy5r |
G |
T |
8: 67,134,693 (GRCm39) |
Y33* |
probably null |
Het |
| Or4c120 |
A |
G |
2: 89,001,124 (GRCm39) |
V144A |
probably benign |
Het |
| Pcdha8 |
G |
C |
18: 37,127,737 (GRCm39) |
V740L |
probably damaging |
Het |
| Pde8b |
C |
A |
13: 95,359,053 (GRCm39) |
C90F |
probably benign |
Het |
| Pex14 |
T |
C |
4: 149,047,984 (GRCm39) |
T198A |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,871,115 (GRCm39) |
H62L |
probably benign |
Het |
| Prodh |
A |
G |
16: 17,890,182 (GRCm39) |
V553A |
probably damaging |
Het |
| Rasgef1c |
G |
A |
11: 49,849,535 (GRCm39) |
V137M |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,231,042 (GRCm39) |
R1363* |
probably null |
Het |
| Rgl2 |
G |
T |
17: 34,155,906 (GRCm39) |
V694L |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,048 (GRCm39) |
N294D |
probably benign |
Het |
| Rpe65 |
G |
A |
3: 159,310,047 (GRCm39) |
A107T |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,410,892 (GRCm39) |
R56G |
possibly damaging |
Het |
| Serp2 |
A |
G |
14: 76,793,902 (GRCm39) |
I18T |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,868,415 (GRCm39) |
I92V |
probably benign |
Het |
| Tcaim |
A |
G |
9: 122,662,683 (GRCm39) |
K417R |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmem132c |
A |
G |
5: 127,640,829 (GRCm39) |
D1000G |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,964,928 (GRCm39) |
D1474E |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,944,593 (GRCm39) |
E43G |
probably damaging |
Het |
| Utp14b |
G |
A |
1: 78,642,539 (GRCm39) |
E146K |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTAGATCTTGTACTTCGGC -3'
(R):5'- CTCTGCACTTACGAAACCCG -3'
Sequencing Primer
(F):5'- AGATCTTGTACTTCGGCCTTTG -3'
(R):5'- ACGTGATGTGATAAGACATATAACTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation