Incidental Mutation 'R6900:Zfp362'
| ID |
538484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp362
|
| Ensembl Gene |
ENSMUSG00000028799 |
| Gene Name |
zinc finger protein 362 |
| Synonyms |
|
| MMRRC Submission |
044994-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.359)
|
| Stock # |
R6900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
128666881-128699838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128679808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 273
(C273Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071108]
[ENSMUST00000106072]
[ENSMUST00000170934]
|
| AlphaFold |
B1ASA5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071108
AA Change: C286Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065733
Gene: ENSMUSG00000028799
AA Change: C286Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
225 |
247 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
281 |
303 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
309 |
333 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
7.26e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106072
AA Change: C286Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101686
Gene: ENSMUSG00000028799
AA Change: C286Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
225 |
247 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
281 |
303 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
309 |
333 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
7.26e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170934
AA Change: C273Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128499
Gene: ENSMUSG00000028799
AA Change: C273Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
115 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
198 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
212 |
234 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
240 |
262 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
296 |
320 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
1.08e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.9751 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
T |
C |
8: 78,037,491 (GRCm39) |
D579G |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,813,518 (GRCm39) |
S1333G |
probably null |
Het |
| Cep250 |
A |
G |
2: 155,838,190 (GRCm39) |
|
probably null |
Het |
| Chd3 |
T |
C |
11: 69,245,271 (GRCm39) |
D1149G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,701,510 (GRCm39) |
L215P |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,209,903 (GRCm39) |
M993V |
probably benign |
Het |
| Ggt5 |
A |
T |
10: 75,446,371 (GRCm39) |
Q523L |
possibly damaging |
Het |
| Hcn1 |
A |
G |
13: 117,793,363 (GRCm39) |
N205S |
probably benign |
Het |
| Htr1b |
A |
T |
9: 81,513,623 (GRCm39) |
I328N |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,633,591 (GRCm39) |
F980Y |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,757,008 (GRCm39) |
S243P |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,587 (GRCm39) |
N97S |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,394,908 (GRCm39) |
Y578C |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,367,675 (GRCm39) |
K468E |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,890,350 (GRCm39) |
N1283S |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,128,097 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
A |
G |
15: 4,938,469 (GRCm39) |
I253V |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,835,169 (GRCm39) |
F228S |
probably damaging |
Het |
| Or4k1 |
A |
T |
14: 50,377,295 (GRCm39) |
V267E |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,123 (GRCm39) |
F2004S |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,604,925 (GRCm39) |
L1130Q |
probably benign |
Het |
| Pparg |
G |
T |
6: 115,449,949 (GRCm39) |
R286L |
possibly damaging |
Het |
| Ppp1r16a |
A |
G |
15: 76,575,923 (GRCm39) |
S96G |
probably damaging |
Het |
| Psg29 |
C |
T |
7: 16,938,857 (GRCm39) |
Q44* |
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,010,893 (GRCm39) |
F1227S |
possibly damaging |
Het |
| Saxo1 |
T |
C |
4: 86,363,571 (GRCm39) |
D304G |
possibly damaging |
Het |
| Sec14l1 |
T |
C |
11: 117,008,049 (GRCm39) |
Y12H |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,489 (GRCm39) |
N779S |
probably benign |
Het |
| Sin3a |
T |
C |
9: 57,014,858 (GRCm39) |
V693A |
probably damaging |
Het |
| Teddm1b |
G |
A |
1: 153,750,956 (GRCm39) |
C255Y |
probably benign |
Het |
| Ttk |
T |
A |
9: 83,754,083 (GRCm39) |
S819T |
probably damaging |
Het |
|
| Other mutations in Zfp362 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01667:Zfp362
|
APN |
4 |
128,680,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01939:Zfp362
|
APN |
4 |
128,680,846 (GRCm39) |
missense |
probably benign |
|
|
trek
|
UTSW |
4 |
128,679,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Zax
|
UTSW |
4 |
128,684,053 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Zebulon
|
UTSW |
4 |
128,679,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Zfp362
|
UTSW |
4 |
128,680,993 (GRCm39) |
missense |
probably benign |
|
|
R1892:Zfp362
|
UTSW |
4 |
128,684,057 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1901:Zfp362
|
UTSW |
4 |
128,684,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Zfp362
|
UTSW |
4 |
128,680,780 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3739:Zfp362
|
UTSW |
4 |
128,680,682 (GRCm39) |
splice site |
probably benign |
|
|
R6772:Zfp362
|
UTSW |
4 |
128,684,053 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6901:Zfp362
|
UTSW |
4 |
128,679,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Zfp362
|
UTSW |
4 |
128,668,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7348:Zfp362
|
UTSW |
4 |
128,671,010 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7629:Zfp362
|
UTSW |
4 |
128,679,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Zfp362
|
UTSW |
4 |
128,671,203 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7763:Zfp362
|
UTSW |
4 |
128,680,824 (GRCm39) |
missense |
probably benign |
|
|
R8434:Zfp362
|
UTSW |
4 |
128,679,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8508:Zfp362
|
UTSW |
4 |
128,668,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Zfp362
|
UTSW |
4 |
128,670,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Zfp362
|
UTSW |
4 |
128,688,681 (GRCm39) |
start codon destroyed |
unknown |
|
|
Z1177:Zfp362
|
UTSW |
4 |
128,668,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGTGAAGGGTTTCATCCAG -3'
(R):5'- CTTATAGGTGTAAGGTCTGCCCG -3'
Sequencing Primer
(F):5'- TTCATCCAGTGTGGCCTAAAAGG -3'
(R):5'- TGTAAGGTCTGCCCGCTCAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation