Incidental Mutation 'R2288:Zfp683'
| ID |
244175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp683
|
| Ensembl Gene |
ENSMUSG00000049410 |
| Gene Name |
zinc finger protein 683 |
| Synonyms |
Hobit |
| MMRRC Submission |
040287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R2288 (G1)
|
| Quality Score |
112 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133781149-133786307 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
CGGG to CCGGGGG
at 133783381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105884]
[ENSMUST00000219402]
[ENSMUST00000227683]
|
| AlphaFold |
I7HJS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105884
|
| SMART Domains |
Protein: ENSMUSP00000101508
Gene: ENSMUSG00000049410
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
192 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
301 |
323 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
329 |
351 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
357 |
379 |
2.57e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227683
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced mature NKT cells and altered susceptibility to MCMV infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
T |
C |
17: 42,978,402 (GRCm39) |
T314A |
probably benign |
Het |
| Ces2a |
T |
C |
8: 105,464,069 (GRCm39) |
S234P |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,026,639 (GRCm39) |
N571K |
possibly damaging |
Het |
| Clasp1 |
A |
G |
1: 118,506,608 (GRCm39) |
I940V |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,909,563 (GRCm39) |
L1392S |
probably damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,322,636 (GRCm39) |
L111F |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Nek10 |
G |
T |
14: 14,853,956 (GRCm38) |
E381* |
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5m3b |
T |
A |
2: 85,872,377 (GRCm39) |
C239* |
probably null |
Het |
| Peg3 |
T |
C |
7: 6,712,114 (GRCm39) |
E1036G |
probably damaging |
Het |
| Pgap4 |
A |
T |
4: 49,586,445 (GRCm39) |
L241Q |
probably damaging |
Het |
| Psma3 |
T |
G |
12: 71,041,145 (GRCm39) |
D173E |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,597,695 (GRCm39) |
L1135P |
probably damaging |
Het |
| Sfxn1 |
A |
G |
13: 54,247,976 (GRCm39) |
I234V |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,735,886 (GRCm39) |
V1855A |
probably benign |
Het |
| Tctn3 |
A |
T |
19: 40,594,157 (GRCm39) |
C419S |
probably damaging |
Het |
| Tlr3 |
T |
A |
8: 45,850,705 (GRCm39) |
I207F |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,739,963 (GRCm39) |
R992S |
probably damaging |
Het |
| V1ra8 |
T |
C |
6: 90,180,024 (GRCm39) |
S76P |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,740,354 (GRCm39) |
D219G |
probably benign |
Het |
| Zfp536 |
T |
A |
7: 37,179,773 (GRCm39) |
D944V |
probably damaging |
Het |
|
| Other mutations in Zfp683 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02868:Zfp683
|
APN |
4 |
133,783,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4976:Zfp683
|
UTSW |
4 |
133,786,190 (GRCm39) |
unclassified |
probably benign |
|
|
R0314:Zfp683
|
UTSW |
4 |
133,786,052 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0924:Zfp683
|
UTSW |
4 |
133,783,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1679:Zfp683
|
UTSW |
4 |
133,785,956 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1984:Zfp683
|
UTSW |
4 |
133,784,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2172:Zfp683
|
UTSW |
4 |
133,783,106 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3736:Zfp683
|
UTSW |
4 |
133,784,742 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5412:Zfp683
|
UTSW |
4 |
133,781,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Zfp683
|
UTSW |
4 |
133,786,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6072:Zfp683
|
UTSW |
4 |
133,783,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7174:Zfp683
|
UTSW |
4 |
133,783,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7419:Zfp683
|
UTSW |
4 |
133,786,211 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8867:Zfp683
|
UTSW |
4 |
133,785,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Zfp683
|
UTSW |
4 |
133,781,239 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9618:Zfp683
|
UTSW |
4 |
133,782,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF004:Zfp683
|
UTSW |
4 |
133,786,185 (GRCm39) |
unclassified |
probably benign |
|
|
RF044:Zfp683
|
UTSW |
4 |
133,786,185 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Zfp683
|
UTSW |
4 |
133,783,382 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCAGCTTGCTTATGACAG -3'
(R):5'- GCTTCCAGACTCCAGAAATTGATTC -3'
Sequencing Primer
(F):5'- CAGCTTGCTTATGACAGCCAGTG -3'
(R):5'- TTGATTCTGGAAGCAAGGTGAAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation