Incidental Mutation 'IGL02986:Zfp369'
| ID |
406738 |
| 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: 0.092)
|
| Stock # |
IGL02986
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
65426628-65452035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65428095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 18
(D18V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126879]
[ENSMUST00000130799]
[ENSMUST00000155732]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125510
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126879
AA Change: D39V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119114
Gene: ENSMUSG00000021514
AA Change: D39V
| 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: D39V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116221
Gene: ENSMUSG00000021514
AA Change: D39V
| 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 |
probably damaging
Transcript: ENSMUST00000155732
AA Change: D18V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119796
Gene: ENSMUSG00000021514
AA Change: D18V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
70 |
1.36e-16 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,263,311 (GRCm39) |
V264A |
possibly damaging |
Het |
| Akr1c6 |
G |
T |
13: 4,486,414 (GRCm39) |
V74L |
probably benign |
Het |
| Atp10a |
T |
G |
7: 58,478,469 (GRCm39) |
V1504G |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,641,690 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
A |
T |
9: 108,718,454 (GRCm39) |
|
probably null |
Het |
| Coro1b |
T |
C |
19: 4,199,470 (GRCm39) |
V43A |
possibly damaging |
Het |
| Dab1 |
A |
G |
4: 104,336,418 (GRCm39) |
T5A |
probably benign |
Het |
| Dennd5a |
C |
T |
7: 109,534,731 (GRCm39) |
A47T |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,150,399 (GRCm39) |
T69A |
possibly damaging |
Het |
| Dhx37 |
G |
A |
5: 125,496,379 (GRCm39) |
P721L |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,016,495 (GRCm39) |
N641D |
probably benign |
Het |
| Espnl |
A |
T |
1: 91,272,572 (GRCm39) |
Q600L |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,352,626 (GRCm39) |
V693A |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,258,176 (GRCm39) |
D366G |
possibly damaging |
Het |
| Gcsam |
C |
A |
16: 45,440,366 (GRCm39) |
F136L |
probably benign |
Het |
| Gm10643 |
A |
T |
8: 84,790,887 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
A |
T |
19: 56,299,624 (GRCm39) |
D174V |
probably benign |
Het |
| Hgfac |
T |
C |
5: 35,201,207 (GRCm39) |
V210A |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
| L3mbtl1 |
T |
C |
2: 162,812,225 (GRCm39) |
W757R |
probably damaging |
Het |
| Lrrfip2 |
A |
G |
9: 110,990,461 (GRCm39) |
|
probably null |
Het |
| Ly75 |
T |
C |
2: 60,138,535 (GRCm39) |
D1444G |
probably damaging |
Het |
| Mars1 |
A |
G |
10: 127,133,438 (GRCm39) |
V765A |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,047,086 (GRCm39) |
|
probably benign |
Het |
| Msln |
G |
A |
17: 25,971,907 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,197,645 (GRCm39) |
|
probably null |
Het |
| Or1p1c |
T |
G |
11: 74,160,928 (GRCm39) |
F238V |
possibly damaging |
Het |
| Or7e173 |
A |
T |
9: 19,939,007 (GRCm39) |
F76I |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,220,393 (GRCm39) |
M411K |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,856,793 (GRCm39) |
I649M |
probably benign |
Het |
| Plekha8 |
T |
C |
6: 54,606,851 (GRCm39) |
L382P |
probably damaging |
Het |
| Pspn |
A |
G |
17: 57,306,853 (GRCm39) |
|
probably benign |
Het |
| Rnf215 |
A |
G |
11: 4,089,793 (GRCm39) |
T269A |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,566,258 (GRCm39) |
L329Q |
probably damaging |
Het |
| Srms |
T |
A |
2: 180,854,290 (GRCm39) |
R92S |
possibly damaging |
Het |
| Ssxb10 |
C |
A |
X: 8,201,845 (GRCm39) |
S157* |
probably null |
Het |
| Tfap2c |
T |
C |
2: 172,399,171 (GRCm39) |
S448P |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,843,352 (GRCm39) |
N855D |
probably benign |
Het |
| Timeless |
A |
C |
10: 128,085,629 (GRCm39) |
D887A |
possibly damaging |
Het |
| Tyms |
T |
C |
5: 30,266,997 (GRCm39) |
Y169C |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,005 (GRCm39) |
C207S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,611,147 (GRCm39) |
F1390S |
probably damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,393 (GRCm39) |
|
probably benign |
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 |
|
IGL02992:Zfp369
|
APN |
13 |
65,442,265 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03170:Zfp369
|
APN |
13 |
65,442,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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