Incidental Mutation 'R5281:Zfp800'
| ID |
402776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp800
|
| Ensembl Gene |
ENSMUSG00000039841 |
| Gene Name |
zinc finger protein 800 |
| Synonyms |
|
| MMRRC Submission |
042866-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.619)
|
| Stock # |
R5281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
28239926-28398004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28243165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 600
(V600E)
|
| 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: V600E
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000039222
Gene: ENSMUSG00000039841
AA Change: V600E
| 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: V600E
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000110975
Gene: ENSMUSG00000039841
AA Change: V600E
| 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: V600E
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000110976
Gene: ENSMUSG00000039841
AA Change: V600E
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
G |
7: 82,178,142 (GRCm39) |
H535R |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,263,115 (GRCm39) |
E45G |
probably damaging |
Het |
| Ano10 |
A |
G |
9: 122,090,552 (GRCm39) |
S254P |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,854,127 (GRCm39) |
E1745V |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,145,163 (GRCm39) |
L1302P |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,663,002 (GRCm39) |
V316A |
probably damaging |
Het |
| C2cd4c |
G |
A |
10: 79,448,878 (GRCm39) |
P90S |
probably benign |
Het |
| Cant1 |
A |
T |
11: 118,299,696 (GRCm39) |
W255R |
probably damaging |
Het |
| Cenpe |
A |
C |
3: 134,935,911 (GRCm39) |
K449Q |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Dmbt1 |
T |
C |
7: 130,684,349 (GRCm39) |
V615A |
probably damaging |
Het |
| Dnajc5b |
T |
C |
3: 19,664,724 (GRCm39) |
V174A |
probably benign |
Het |
| Dst |
C |
A |
1: 34,296,863 (GRCm39) |
H5751N |
probably benign |
Het |
| Eif2d |
A |
G |
1: 131,101,080 (GRCm39) |
E562G |
probably damaging |
Het |
| Epha10 |
A |
T |
4: 124,807,781 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
C |
T |
1: 77,351,504 (GRCm39) |
G917D |
probably benign |
Het |
| Fap |
C |
T |
2: 62,363,305 (GRCm39) |
|
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,202,733 (GRCm39) |
E282G |
probably benign |
Het |
| Gls |
A |
T |
1: 52,230,316 (GRCm39) |
M136K |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gusb |
T |
C |
5: 130,027,367 (GRCm39) |
T313A |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,347,883 (GRCm39) |
Y752H |
possibly damaging |
Het |
| Krt17 |
G |
A |
11: 100,151,527 (GRCm39) |
Q89* |
probably null |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,467 (GRCm39) |
I209V |
probably benign |
Het |
| Nr0b2 |
A |
G |
4: 133,283,335 (GRCm39) |
I191V |
probably benign |
Het |
| Or51af1 |
T |
C |
7: 103,141,180 (GRCm39) |
I302V |
probably benign |
Het |
| Pcdhb21 |
T |
C |
18: 37,646,988 (GRCm39) |
M39T |
probably benign |
Het |
| Pds5b |
T |
G |
5: 150,670,073 (GRCm39) |
Y354D |
probably benign |
Het |
| She |
A |
G |
3: 89,756,888 (GRCm39) |
D314G |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,105,946 (GRCm39) |
M266T |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slfn4 |
T |
G |
11: 83,078,025 (GRCm39) |
V271G |
probably damaging |
Het |
| Slitrk6 |
C |
T |
14: 110,987,805 (GRCm39) |
R634H |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,750,313 (GRCm39) |
F1555L |
probably benign |
Het |
| Vldlr |
A |
C |
19: 27,221,631 (GRCm39) |
E665D |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,336,664 (GRCm39) |
T633A |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,559,616 (GRCm39) |
V342A |
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 |
|
R4204:Zfp800
|
UTSW |
6 |
28,243,180 (GRCm39) |
missense |
probably benign |
|
|
R4981:Zfp800
|
UTSW |
6 |
28,247,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCCTTAGATCTTGTACTTCGGC -3'
(R):5'- CTCTGCACTTACGAAACCCG -3'
Sequencing Primer
(F):5'- AGATCTTGTACTTCGGCCTTTG -3'
(R):5'- CTGTGGTTCATAAAAAGTCATCTCG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation