Incidental Mutation 'R5453:Zfp84'
| ID |
432627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp84
|
| Ensembl Gene |
ENSMUSG00000046185 |
| Gene Name |
zinc finger protein 84 |
| Synonyms |
KRAB18, C86188, Zfp69, 2210410P13Rik, 4633401C23Rik |
| MMRRC Submission |
043017-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5453 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
29467977-29479246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29475722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 138
(E138G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032802]
|
| AlphaFold |
Q9D654 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032802
AA Change: E138G
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032802
Gene: ENSMUSG00000046185
AA Change: E138G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.09e-36 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
2.32e-1 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
1.58e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158514
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Adamts20 |
T |
C |
15: 94,223,969 (GRCm39) |
E1253G |
possibly damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,256,647 (GRCm39) |
F640S |
probably damaging |
Het |
| Anxa1 |
C |
T |
19: 20,357,703 (GRCm39) |
|
probably null |
Het |
| Babam2 |
A |
G |
5: 32,164,590 (GRCm39) |
E288G |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,289,500 (GRCm39) |
A406V |
probably damaging |
Het |
| Cdh13 |
A |
T |
8: 119,925,706 (GRCm39) |
D358V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,953,131 (GRCm39) |
I45V |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 133,806,147 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,599,099 (GRCm39) |
D1818G |
probably benign |
Het |
| Emsy |
T |
C |
7: 98,250,013 (GRCm39) |
K758R |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,908,160 (GRCm39) |
V2614A |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,003,972 (GRCm39) |
I190T |
possibly damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,235,480 (GRCm39) |
S136P |
probably damaging |
Het |
| Hras |
A |
C |
7: 140,772,768 (GRCm39) |
V29G |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,192,877 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
G |
16: 16,681,558 (GRCm39) |
|
probably null |
Het |
| Insr |
G |
A |
8: 3,205,694 (GRCm39) |
T1365I |
probably benign |
Het |
| Kitl |
T |
A |
10: 99,923,247 (GRCm39) |
W187R |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,540,728 (GRCm39) |
F940L |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,172,249 (GRCm39) |
R725K |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Mrps35 |
A |
G |
6: 146,972,115 (GRCm39) |
S253G |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,438,837 (GRCm39) |
E2015K |
probably damaging |
Het |
| Nyap2 |
A |
C |
1: 81,169,857 (GRCm39) |
I205L |
probably benign |
Het |
| Or12d13 |
T |
C |
17: 37,647,953 (GRCm39) |
M57V |
possibly damaging |
Het |
| Or6k14 |
A |
G |
1: 173,927,033 (GRCm39) |
K3R |
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,211,555 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
A |
G |
5: 66,184,525 (GRCm39) |
V26A |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,151,989 (GRCm39) |
I190N |
probably damaging |
Het |
| Spmip4 |
A |
G |
6: 50,572,776 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,133,905 (GRCm39) |
N1150K |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,689 (GRCm39) |
G427W |
probably damaging |
Het |
|
| Other mutations in Zfp84 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01768:Zfp84
|
APN |
7 |
29,476,091 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03022:Zfp84
|
APN |
7 |
29,474,759 (GRCm39) |
splice site |
probably benign |
|
|
R0666:Zfp84
|
UTSW |
7 |
29,476,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Zfp84
|
UTSW |
7 |
29,470,797 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R1110:Zfp84
|
UTSW |
7 |
29,470,797 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R1353:Zfp84
|
UTSW |
7 |
29,475,600 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1495:Zfp84
|
UTSW |
7 |
29,476,728 (GRCm39) |
nonsense |
probably null |
|
|
R1496:Zfp84
|
UTSW |
7 |
29,476,039 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1681:Zfp84
|
UTSW |
7 |
29,476,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Zfp84
|
UTSW |
7 |
29,476,768 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1854:Zfp84
|
UTSW |
7 |
29,474,796 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2209:Zfp84
|
UTSW |
7 |
29,476,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2843:Zfp84
|
UTSW |
7 |
29,474,758 (GRCm39) |
splice site |
probably null |
|
|
R2844:Zfp84
|
UTSW |
7 |
29,474,758 (GRCm39) |
splice site |
probably null |
|
|
R4691:Zfp84
|
UTSW |
7 |
29,476,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5474:Zfp84
|
UTSW |
7 |
29,476,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Zfp84
|
UTSW |
7 |
29,474,856 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5646:Zfp84
|
UTSW |
7 |
29,475,818 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5963:Zfp84
|
UTSW |
7 |
29,476,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6830:Zfp84
|
UTSW |
7 |
29,475,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8129:Zfp84
|
UTSW |
7 |
29,475,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8138:Zfp84
|
UTSW |
7 |
29,474,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9180:Zfp84
|
UTSW |
7 |
29,474,873 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9401:Zfp84
|
UTSW |
7 |
29,476,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Zfp84
|
UTSW |
7 |
29,476,264 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9555:Zfp84
|
UTSW |
7 |
29,476,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9605:Zfp84
|
UTSW |
7 |
29,476,264 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
V3553:Zfp84
|
UTSW |
7 |
29,476,672 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1186:Zfp84
|
UTSW |
7 |
29,470,805 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCACATGGTTCTGTTTGTC -3'
(R):5'- CTGGTAGGAATTCGCACCTG -3'
Sequencing Primer
(F):5'- GCTCGCGCTGATGAACTTAC -3'
(R):5'- AGGAATTCGCACCTGTTGAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation