Incidental Mutation 'IGL03170:Zfp369'
| ID |
411794 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp369
|
| Ensembl Gene |
ENSMUSG00000021514 |
| Gene Name |
zinc finger protein 369 |
| Synonyms |
B930030B22Rik, NRIF2, D230020H11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
IGL03170
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
65426628-65452035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65442224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 273
(S273P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126879]
[ENSMUST00000130799]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126879
AA Change: S273P
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119114
Gene: ENSMUSG00000021514
AA Change: S273P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
35 |
95 |
7.13e-20 |
SMART |
|
SCAN
|
178 |
289 |
2.57e-39 |
SMART |
|
KRAB
|
300 |
367 |
1.63e-14 |
SMART |
|
low complexity region
|
440 |
452 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
701 |
723 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
729 |
751 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
757 |
779 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
785 |
807 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
813 |
835 |
6.88e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130799
AA Change: S273P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116221
Gene: ENSMUSG00000021514
AA Change: S273P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
35 |
95 |
7.13e-20 |
SMART |
|
SCAN
|
178 |
289 |
2.57e-39 |
SMART |
|
KRAB
|
300 |
354 |
3.54e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221365
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand2 |
A |
G |
6: 115,774,861 (GRCm39) |
D1023G |
probably damaging |
Het |
| Ccn1 |
C |
A |
3: 145,355,514 (GRCm39) |
A12S |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,060,809 (GRCm39) |
|
probably null |
Het |
| Cyp4f37 |
C |
T |
17: 32,844,093 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
T |
C |
2: 25,289,493 (GRCm39) |
F325S |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,818,261 (GRCm38) |
I37T |
possibly damaging |
Het |
| Gtpbp10 |
A |
G |
5: 5,605,355 (GRCm39) |
V116A |
probably benign |
Het |
| H2-T9 |
C |
T |
17: 36,439,605 (GRCm39) |
G125E |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,587,456 (GRCm39) |
N164I |
unknown |
Het |
| Nle1 |
T |
A |
11: 82,795,096 (GRCm39) |
T312S |
probably benign |
Het |
| Or10ab5 |
T |
C |
7: 108,245,307 (GRCm39) |
I159V |
probably benign |
Het |
| Pim1 |
T |
A |
17: 29,710,152 (GRCm39) |
L12Q |
possibly damaging |
Het |
| Plb1 |
G |
T |
5: 32,442,246 (GRCm39) |
C246F |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,557,033 (GRCm39) |
|
probably benign |
Het |
| Prl6a1 |
T |
A |
13: 27,499,406 (GRCm39) |
V63D |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 22,959,766 (GRCm39) |
A88T |
probably benign |
Het |
| Ranbp3l |
A |
T |
15: 9,029,611 (GRCm39) |
E31V |
probably damaging |
Het |
| Relch |
C |
T |
1: 105,663,680 (GRCm39) |
T943I |
probably damaging |
Het |
| Rgs9 |
G |
A |
11: 109,150,681 (GRCm39) |
T209I |
probably benign |
Het |
| Smg8 |
A |
G |
11: 86,977,434 (GRCm39) |
V49A |
probably damaging |
Het |
| Smim6 |
A |
T |
11: 115,804,314 (GRCm39) |
T34S |
possibly damaging |
Het |
| Snw1 |
T |
G |
12: 87,519,022 (GRCm39) |
T4P |
probably benign |
Het |
| Sod2 |
C |
A |
17: 13,227,257 (GRCm39) |
H70Q |
probably benign |
Het |
| Tro |
A |
G |
X: 149,438,556 (GRCm39) |
S34P |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
| Uggt1 |
A |
C |
1: 36,202,342 (GRCm39) |
V1085G |
probably damaging |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,847 (GRCm39) |
V199A |
probably damaging |
Het |
| Xkr9 |
T |
C |
1: 13,771,036 (GRCm39) |
I184T |
possibly damaging |
Het |
| Zpld2 |
C |
T |
4: 133,920,345 (GRCm39) |
V607I |
possibly damaging |
Het |
|
| Other mutations in Zfp369 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Zfp369
|
APN |
13 |
65,445,074 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01393:Zfp369
|
APN |
13 |
65,442,288 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02277:Zfp369
|
APN |
13 |
65,432,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02986:Zfp369
|
APN |
13 |
65,428,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02992:Zfp369
|
APN |
13 |
65,442,265 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03351:Zfp369
|
APN |
13 |
65,443,967 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0136:Zfp369
|
UTSW |
13 |
65,445,016 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0600:Zfp369
|
UTSW |
13 |
65,444,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0646:Zfp369
|
UTSW |
13 |
65,445,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1190:Zfp369
|
UTSW |
13 |
65,440,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1191:Zfp369
|
UTSW |
13 |
65,439,776 (GRCm39) |
nonsense |
probably null |
|
|
R1528:Zfp369
|
UTSW |
13 |
65,439,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Zfp369
|
UTSW |
13 |
65,444,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2168:Zfp369
|
UTSW |
13 |
65,444,762 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4386:Zfp369
|
UTSW |
13 |
65,444,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4928:Zfp369
|
UTSW |
13 |
65,444,614 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5127:Zfp369
|
UTSW |
13 |
65,426,847 (GRCm39) |
start gained |
probably benign |
|
|
R5549:Zfp369
|
UTSW |
13 |
65,445,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5740:Zfp369
|
UTSW |
13 |
65,444,581 (GRCm39) |
missense |
probably benign |
|
|
R5743:Zfp369
|
UTSW |
13 |
65,443,494 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5840:Zfp369
|
UTSW |
13 |
65,445,092 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6351:Zfp369
|
UTSW |
13 |
65,444,044 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7248:Zfp369
|
UTSW |
13 |
65,443,931 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7288:Zfp369
|
UTSW |
13 |
65,432,832 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7314:Zfp369
|
UTSW |
13 |
65,439,918 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7470:Zfp369
|
UTSW |
13 |
65,439,960 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7508:Zfp369
|
UTSW |
13 |
65,427,087 (GRCm39) |
missense |
unknown |
|
|
R7796:Zfp369
|
UTSW |
13 |
65,444,029 (GRCm39) |
missense |
probably benign |
|
|
R7886:Zfp369
|
UTSW |
13 |
65,439,868 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8425:Zfp369
|
UTSW |
13 |
65,444,489 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8671:Zfp369
|
UTSW |
13 |
65,444,095 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8868:Zfp369
|
UTSW |
13 |
65,445,082 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8918:Zfp369
|
UTSW |
13 |
65,443,529 (GRCm39) |
nonsense |
probably null |
|
|
R8921:Zfp369
|
UTSW |
13 |
65,444,044 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9201:Zfp369
|
UTSW |
13 |
65,444,396 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9236:Zfp369
|
UTSW |
13 |
65,445,010 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9443:Zfp369
|
UTSW |
13 |
65,444,347 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Zfp369
|
UTSW |
13 |
65,439,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation