Incidental Mutation 'R5549:Zfp369'
| ID |
435055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp369
|
| Ensembl Gene |
ENSMUSG00000021514 |
| Gene Name |
zinc finger protein 369 |
| Synonyms |
B930030B22Rik, NRIF2, D230020H11Rik |
| MMRRC Submission |
043106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R5549 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
65426628-65452035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65445194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 779
(H779L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126879]
[ENSMUST00000130799]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126879
AA Change: H779L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119114
Gene: ENSMUSG00000021514
AA Change: H779L
| 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 benign
Transcript: ENSMUST00000130799
|
| SMART Domains |
Protein: ENSMUSP00000116221
Gene: ENSMUSG00000021514
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,993 (GRCm39) |
E324G |
possibly damaging |
Het |
| Acad8 |
C |
T |
9: 26,896,847 (GRCm39) |
R204Q |
probably damaging |
Het |
| Adgrg7 |
T |
G |
16: 56,570,790 (GRCm39) |
T413P |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,617,117 (GRCm39) |
I2224T |
probably benign |
Het |
| Arhgap23 |
A |
G |
11: 97,357,394 (GRCm39) |
D964G |
probably damaging |
Het |
| Atf6b |
A |
G |
17: 34,870,657 (GRCm39) |
D367G |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,226,104 (GRCm39) |
L131P |
probably damaging |
Het |
| Bmp8b |
T |
C |
4: 123,018,278 (GRCm39) |
V383A |
probably damaging |
Het |
| C5ar2 |
A |
G |
7: 15,970,868 (GRCm39) |
V353A |
probably damaging |
Het |
| Ccr5 |
C |
A |
9: 123,925,408 (GRCm39) |
A337E |
probably benign |
Het |
| Cftr |
G |
A |
6: 18,227,953 (GRCm39) |
V382I |
probably benign |
Het |
| Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,440,498 (GRCm39) |
T96A |
probably benign |
Het |
| Diaph3 |
T |
G |
14: 87,216,106 (GRCm39) |
I465L |
probably benign |
Het |
| Fabp3 |
A |
G |
4: 130,209,018 (GRCm39) |
*134W |
probably null |
Het |
| Fgf22 |
G |
T |
10: 79,592,696 (GRCm39) |
M130I |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,453,690 (GRCm39) |
V1792M |
probably damaging |
Het |
| Grik3 |
G |
A |
4: 125,579,838 (GRCm39) |
A528T |
possibly damaging |
Het |
| Hecw2 |
G |
A |
1: 53,964,850 (GRCm39) |
R659W |
possibly damaging |
Het |
| Hmbs |
C |
T |
9: 44,250,774 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
G |
6: 115,868,983 (GRCm39) |
L490R |
probably damaging |
Het |
| Igkv4-63 |
T |
C |
6: 69,355,116 (GRCm39) |
H55R |
probably damaging |
Het |
| Itga4 |
A |
T |
2: 79,086,611 (GRCm39) |
N96I |
probably damaging |
Het |
| Kcna7 |
A |
T |
7: 45,056,063 (GRCm39) |
H93L |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,271,562 (GRCm39) |
I815V |
probably benign |
Het |
| Lcmt1 |
G |
A |
7: 123,027,330 (GRCm39) |
E298K |
probably damaging |
Het |
| Ly6g6f |
A |
G |
17: 35,302,333 (GRCm39) |
V68A |
possibly damaging |
Het |
| Map3k8 |
C |
T |
18: 4,340,762 (GRCm39) |
C184Y |
probably damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,718,340 (GRCm39) |
T183A |
possibly damaging |
Het |
| Mobp |
T |
G |
9: 119,996,876 (GRCm39) |
S2R |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,651,644 (GRCm39) |
S1783G |
probably benign |
Het |
| Mterf3 |
C |
A |
13: 67,076,321 (GRCm39) |
A129S |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nr2c1 |
A |
G |
10: 94,003,558 (GRCm39) |
T239A |
probably benign |
Het |
| Odr4 |
A |
G |
1: 150,247,909 (GRCm39) |
S325P |
possibly damaging |
Het |
| Oplah |
G |
A |
15: 76,182,466 (GRCm39) |
A963V |
probably damaging |
Het |
| Or13a26 |
A |
G |
7: 140,284,712 (GRCm39) |
|
probably null |
Het |
| Parp14 |
C |
T |
16: 35,661,505 (GRCm39) |
S1481N |
probably benign |
Het |
| Prxl2a |
T |
C |
14: 40,726,013 (GRCm39) |
K44E |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,816,391 (GRCm39) |
T1221M |
probably damaging |
Het |
| Rpe |
G |
A |
1: 66,755,163 (GRCm39) |
D182N |
probably damaging |
Het |
| Slc24a3 |
C |
A |
2: 145,448,784 (GRCm39) |
P443T |
probably damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,822,143 (GRCm39) |
*311Q |
probably null |
Het |
| Sox2 |
C |
G |
3: 34,705,142 (GRCm39) |
A193G |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,057,954 (GRCm39) |
S3284G |
probably benign |
Het |
| Zfp513 |
A |
T |
5: 31,357,947 (GRCm39) |
L144Q |
possibly damaging |
Het |
| Zfp526 |
T |
C |
7: 24,925,109 (GRCm39) |
F456S |
possibly damaging |
Het |
| Zfp791 |
C |
T |
8: 85,836,835 (GRCm39) |
G343D |
probably damaging |
Het |
| Zfp941 |
A |
C |
7: 140,388,021 (GRCm39) |
I664S |
possibly damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,578,233 (GRCm39) |
V189A |
probably 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATGCTCAGCAGATATCC -3'
(R):5'- CAATTTAGGCTGCTTCTTGAACTTC -3'
Sequencing Primer
(F):5'- GGAGCCAAATTTGCCAATGC -3'
(R):5'- AGGCTGCTTCTTGAACTTCTTTCTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation