Incidental Mutation 'R4279:Zfp365'
ID |
322809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp365
|
Ensembl Gene |
ENSMUSG00000037855 |
Gene Name |
zinc finger protein 365 |
Synonyms |
Su48, DBZ |
MMRRC Submission |
041079-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4279 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
67721935-67748492 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 67733431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 254
(F254I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064656]
|
AlphaFold |
Q8BG89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064656
AA Change: F254I
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000067197 Gene: ENSMUSG00000037855 AA Change: F254I
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
26 |
51 |
4.05e-1 |
SMART |
coiled coil region
|
170 |
298 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132870
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138543
|
Meta Mutation Damage Score |
0.0807 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
98% (40/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal cortical basket cells in the somatosensory cortices, delayed myelination in the corpus callosum during the early postnatal period, and an increase in immature oligodendrocytes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
T |
A |
15: 96,269,637 (GRCm39) |
L1250Q |
probably damaging |
Het |
Ccdc73 |
A |
T |
2: 104,815,355 (GRCm39) |
N364Y |
possibly damaging |
Het |
Ccl25 |
T |
A |
8: 4,399,829 (GRCm39) |
L56Q |
probably damaging |
Het |
Ctnnd2 |
C |
A |
15: 30,905,966 (GRCm39) |
A871E |
probably damaging |
Het |
Cyp2b23 |
C |
T |
7: 26,365,452 (GRCm39) |
S461N |
possibly damaging |
Het |
Dgat2 |
C |
A |
7: 98,813,912 (GRCm39) |
G120V |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,369,207 (GRCm39) |
I768F |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,333,765 (GRCm39) |
E356G |
probably benign |
Het |
Fam120a |
A |
T |
13: 49,042,734 (GRCm39) |
V889D |
probably benign |
Het |
Fxyd5 |
C |
A |
7: 30,734,811 (GRCm39) |
D139Y |
probably null |
Het |
Gcnt2 |
T |
C |
13: 41,041,666 (GRCm39) |
V275A |
probably benign |
Het |
Gimap4 |
A |
G |
6: 48,667,511 (GRCm39) |
I89V |
probably benign |
Het |
Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
Kif13b |
G |
T |
14: 65,016,805 (GRCm39) |
A1324S |
probably damaging |
Het |
Klhl31 |
T |
C |
9: 77,563,121 (GRCm39) |
S629P |
unknown |
Het |
Lpar1 |
A |
G |
4: 58,487,115 (GRCm39) |
V52A |
possibly damaging |
Het |
Lrp5 |
A |
G |
19: 3,641,778 (GRCm39) |
S1395P |
possibly damaging |
Het |
Mogs |
T |
C |
6: 83,093,048 (GRCm39) |
L132P |
probably damaging |
Het |
Ncam1 |
C |
A |
9: 49,418,259 (GRCm39) |
|
probably benign |
Het |
Ndufs8 |
A |
T |
19: 3,961,014 (GRCm39) |
F88I |
probably damaging |
Het |
Nos2 |
T |
A |
11: 78,820,602 (GRCm39) |
L69Q |
probably benign |
Het |
Or51a6 |
T |
A |
7: 102,604,292 (GRCm39) |
Q179L |
probably benign |
Het |
Pls3 |
A |
T |
X: 74,846,138 (GRCm39) |
I192N |
probably benign |
Het |
Psmd6 |
T |
C |
14: 14,112,297 (GRCm38) |
N388S |
possibly damaging |
Het |
Rrbp1 |
T |
C |
2: 143,805,028 (GRCm39) |
T1046A |
probably benign |
Het |
Scn11a |
T |
C |
9: 119,583,428 (GRCm39) |
E1729G |
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,692,953 (GRCm39) |
D191G |
possibly damaging |
Het |
Slc9a1 |
T |
C |
4: 133,139,400 (GRCm39) |
F206S |
probably benign |
Het |
Tmc5 |
A |
G |
7: 118,273,886 (GRCm39) |
*968W |
probably null |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Unc13a |
T |
C |
8: 72,119,311 (GRCm39) |
K9R |
probably damaging |
Het |
Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
Vmn1r119 |
T |
A |
7: 20,745,786 (GRCm39) |
M199L |
probably benign |
Het |
Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
|
Other mutations in Zfp365 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01301:Zfp365
|
APN |
10 |
67,745,184 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03257:Zfp365
|
APN |
10 |
67,724,868 (GRCm39) |
missense |
possibly damaging |
0.76 |
ANU18:Zfp365
|
UTSW |
10 |
67,745,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R0482:Zfp365
|
UTSW |
10 |
67,733,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R1800:Zfp365
|
UTSW |
10 |
67,724,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R1986:Zfp365
|
UTSW |
10 |
67,745,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R4475:Zfp365
|
UTSW |
10 |
67,724,750 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4951:Zfp365
|
UTSW |
10 |
67,725,821 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5599:Zfp365
|
UTSW |
10 |
67,745,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R5682:Zfp365
|
UTSW |
10 |
67,745,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R5697:Zfp365
|
UTSW |
10 |
67,745,470 (GRCm39) |
missense |
probably benign |
0.01 |
R5837:Zfp365
|
UTSW |
10 |
67,724,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R5982:Zfp365
|
UTSW |
10 |
67,733,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R6974:Zfp365
|
UTSW |
10 |
67,745,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R7043:Zfp365
|
UTSW |
10 |
67,745,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R7861:Zfp365
|
UTSW |
10 |
67,745,749 (GRCm39) |
missense |
probably damaging |
0.98 |
R8700:Zfp365
|
UTSW |
10 |
67,745,535 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8964:Zfp365
|
UTSW |
10 |
67,745,088 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Zfp365
|
UTSW |
10 |
67,745,090 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGACTCACCATATGCTCACTAG -3'
(R):5'- ACCTTGTACCTAGTTCCAATGCTG -3'
Sequencing Primer
(F):5'- ATATGCTCACTAGTGTCACAGC -3'
(R):5'- TGCTGTTAACTCCTGACAGAAC -3'
|
Posted On |
2015-06-20 |