Incidental Mutation 'IGL03257:Zfp365'
| ID |
414711 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp365
|
| Ensembl Gene |
ENSMUSG00000037855 |
| Gene Name |
zinc finger protein 365 |
| Synonyms |
Su48, DBZ |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03257
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
67721935-67748492 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67724868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 340
(F340Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064656]
|
| AlphaFold |
Q8BG89 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064656
AA Change: F340Y
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000067197
Gene: ENSMUSG00000037855
AA Change: F340Y
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
A |
14: 118,852,623 (GRCm39) |
V489L |
probably benign |
Het |
| Alpk2 |
C |
A |
18: 65,482,945 (GRCm39) |
E354D |
probably damaging |
Het |
| Ank1 |
A |
T |
8: 23,612,914 (GRCm39) |
K1060M |
probably damaging |
Het |
| Cand2 |
A |
G |
6: 115,776,944 (GRCm39) |
N1111D |
possibly damaging |
Het |
| Ccny |
A |
T |
18: 9,386,747 (GRCm39) |
S73T |
possibly damaging |
Het |
| Clps |
T |
C |
17: 28,779,634 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
C |
A |
5: 72,768,205 (GRCm39) |
W160C |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,759,072 (GRCm39) |
S2045G |
possibly damaging |
Het |
| Dennd4a |
T |
G |
9: 64,779,156 (GRCm39) |
N546K |
possibly damaging |
Het |
| Efcab5 |
A |
T |
11: 77,079,596 (GRCm39) |
M50K |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,934,805 (GRCm39) |
H228R |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,424,826 (GRCm39) |
C444Y |
probably damaging |
Het |
| Gpm6a |
A |
G |
8: 55,490,507 (GRCm39) |
Y61C |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,252,106 (GRCm39) |
S119T |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,864,688 (GRCm39) |
I1162N |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,087,258 (GRCm39) |
T397A |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,202,742 (GRCm39) |
T59M |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,496,542 (GRCm39) |
S57T |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,087,455 (GRCm39) |
|
probably null |
Het |
| Or5p52 |
T |
C |
7: 107,501,963 (GRCm39) |
I13T |
probably benign |
Het |
| Or8k27 |
A |
T |
2: 86,276,234 (GRCm39) |
F31I |
probably damaging |
Het |
| Prl8a1 |
A |
G |
13: 27,759,656 (GRCm39) |
I127T |
probably damaging |
Het |
| Psme1 |
T |
C |
14: 55,818,086 (GRCm39) |
I142T |
probably damaging |
Het |
| Ptbp3 |
A |
T |
4: 59,493,370 (GRCm39) |
|
probably benign |
Het |
| Rnf20 |
T |
A |
4: 49,645,687 (GRCm39) |
N321K |
probably benign |
Het |
| Ttc23 |
T |
C |
7: 67,361,126 (GRCm39) |
S340P |
probably damaging |
Het |
| Txnrd1 |
A |
T |
10: 82,721,105 (GRCm39) |
K393I |
probably benign |
Het |
| Zfp451 |
C |
A |
1: 33,816,129 (GRCm39) |
R607L |
possibly damaging |
Het |
| Zfp618 |
A |
G |
4: 63,050,908 (GRCm39) |
Y563C |
probably 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 |
|
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 |
|
R4279:Zfp365
|
UTSW |
10 |
67,733,431 (GRCm39) |
missense |
probably benign |
0.44 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation