Incidental Mutation 'R9536:Zfp386'
| ID |
719709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp386
|
| Ensembl Gene |
ENSMUSG00000042063 |
| Gene Name |
zinc finger protein 386 (Kruppel-like) |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R9536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116011334-116026851 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116023686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 468
(C468Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073551]
[ENSMUST00000183125]
|
| AlphaFold |
Q1WWJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073551
AA Change: C433Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073241
Gene: ENSMUSG00000042063
AA Change: C433Y
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
1.88e-19 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
491 |
513 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
519 |
541 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
547 |
569 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
575 |
597 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
603 |
625 |
5.99e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183125
AA Change: C468Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138305
Gene: ENSMUSG00000042063
AA Change: C468Y
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
6 |
66 |
1.88e-19 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
463 |
485 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
491 |
513 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
519 |
541 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
547 |
569 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
575 |
597 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
603 |
625 |
5.99e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4)
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,182,623 (GRCm39) |
L259F |
probably damaging |
Het |
| Adamts6 |
A |
C |
13: 104,489,313 (GRCm39) |
I389L |
probably benign |
Het |
| Adcy7 |
A |
T |
8: 89,053,026 (GRCm39) |
E974V |
possibly damaging |
Het |
| Agbl3 |
G |
T |
6: 34,823,861 (GRCm39) |
R847M |
probably benign |
Het |
| Ank2 |
T |
G |
3: 126,736,031 (GRCm39) |
Q3284H |
unknown |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Bod1l |
C |
A |
5: 41,974,305 (GRCm39) |
E2336D |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,286,792 (GRCm39) |
S109P |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,092,749 (GRCm39) |
F578S |
probably damaging |
Het |
| Chid1 |
A |
G |
7: 141,093,755 (GRCm39) |
V287A |
probably benign |
Het |
| Cyp26b1 |
T |
G |
6: 84,553,999 (GRCm39) |
D206A |
probably benign |
Het |
| Dennd6a |
A |
T |
14: 26,329,758 (GRCm39) |
K334* |
probably null |
Het |
| Drd3 |
T |
C |
16: 43,637,368 (GRCm39) |
V189A |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,309,262 (GRCm39) |
I728T |
unknown |
Het |
| Frem3 |
G |
A |
8: 81,342,048 (GRCm39) |
G1447D |
probably benign |
Het |
| Gck |
T |
C |
11: 5,852,307 (GRCm39) |
D344G |
possibly damaging |
Het |
| Gimap9 |
T |
A |
6: 48,654,416 (GRCm39) |
M1K |
probably null |
Het |
| Glb1l3 |
T |
C |
9: 26,770,929 (GRCm39) |
T46A |
probably benign |
Het |
| Gm13941 |
T |
C |
2: 110,918,861 (GRCm39) |
T198A |
unknown |
Het |
| Gphn |
T |
G |
12: 78,609,636 (GRCm39) |
S327A |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,335,130 (GRCm39) |
S4356P |
possibly damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,458,840 (GRCm39) |
M26K |
|
Het |
| Iqsec1 |
A |
G |
6: 90,666,659 (GRCm39) |
Y489H |
probably damaging |
Het |
| Lars1 |
T |
A |
18: 42,376,046 (GRCm39) |
R255* |
probably null |
Het |
| Lrp5 |
G |
A |
19: 3,672,672 (GRCm39) |
H546Y |
probably damaging |
Het |
| Or2c1 |
T |
A |
16: 3,657,438 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or52a5b |
A |
T |
7: 103,416,779 (GRCm39) |
V275E |
probably damaging |
Het |
| Or5p61 |
T |
C |
7: 107,759,075 (GRCm39) |
I2V |
probably benign |
Het |
| Or6c33 |
G |
A |
10: 129,853,345 (GRCm39) |
M38I |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,416,554 (GRCm39) |
C691S |
probably benign |
Het |
| Pcbp3 |
G |
A |
10: 76,599,225 (GRCm39) |
L304F |
possibly damaging |
Het |
| Pramel34 |
G |
C |
5: 93,784,289 (GRCm39) |
L392V |
probably damaging |
Het |
| Rpl5 |
T |
A |
5: 108,051,721 (GRCm39) |
S172T |
probably benign |
Het |
| Rps2 |
C |
T |
17: 24,940,851 (GRCm39) |
H297Y |
unknown |
Het |
| Scp2 |
A |
T |
4: 107,928,532 (GRCm39) |
V386E |
possibly damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,986,420 (GRCm39) |
V381E |
probably benign |
Het |
| Styxl1 |
T |
C |
5: 135,776,634 (GRCm39) |
E318G |
probably benign |
Het |
| Tat |
T |
A |
8: 110,722,711 (GRCm39) |
C258S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,910,147 (GRCm39) |
N151D |
probably damaging |
Het |
| Thbs3 |
A |
T |
3: 89,124,044 (GRCm39) |
I46F |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,764,123 (GRCm39) |
D243V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,739,017 (GRCm39) |
N3887Y |
unknown |
Het |
| Ubap2 |
A |
G |
4: 41,195,661 (GRCm39) |
S1020P |
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,537 (GRCm39) |
M22L |
probably benign |
Het |
| V1rd19 |
A |
T |
7: 23,703,253 (GRCm39) |
I240F |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,414,449 (GRCm39) |
P275L |
probably damaging |
Het |
| Zfp975 |
A |
C |
7: 42,312,345 (GRCm39) |
H89Q |
probably benign |
Het |
| Zfyve26 |
T |
A |
12: 79,298,046 (GRCm39) |
N1881I |
probably benign |
Het |
|
| Other mutations in Zfp386 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01982:Zfp386
|
APN |
12 |
116,022,788 (GRCm39) |
missense |
probably benign |
|
|
IGL02692:Zfp386
|
APN |
12 |
116,022,855 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03071:Zfp386
|
APN |
12 |
116,022,760 (GRCm39) |
missense |
probably benign |
0.08 |
|
F5493:Zfp386
|
UTSW |
12 |
116,023,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0098:Zfp386
|
UTSW |
12 |
116,022,834 (GRCm39) |
nonsense |
probably null |
|
|
R0098:Zfp386
|
UTSW |
12 |
116,022,834 (GRCm39) |
nonsense |
probably null |
|
|
R0372:Zfp386
|
UTSW |
12 |
116,018,436 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0784:Zfp386
|
UTSW |
12 |
116,023,540 (GRCm39) |
nonsense |
probably null |
|
|
R0866:Zfp386
|
UTSW |
12 |
116,018,329 (GRCm39) |
splice site |
probably benign |
|
|
R0947:Zfp386
|
UTSW |
12 |
116,023,398 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1080:Zfp386
|
UTSW |
12 |
116,023,426 (GRCm39) |
nonsense |
probably null |
|
|
R1517:Zfp386
|
UTSW |
12 |
116,023,225 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1597:Zfp386
|
UTSW |
12 |
116,023,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1722:Zfp386
|
UTSW |
12 |
116,023,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2043:Zfp386
|
UTSW |
12 |
116,022,781 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3741:Zfp386
|
UTSW |
12 |
116,023,170 (GRCm39) |
nonsense |
probably null |
|
|
R3742:Zfp386
|
UTSW |
12 |
116,023,170 (GRCm39) |
nonsense |
probably null |
|
|
R3902:Zfp386
|
UTSW |
12 |
116,023,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5012:Zfp386
|
UTSW |
12 |
116,022,864 (GRCm39) |
missense |
probably benign |
|
|
R5590:Zfp386
|
UTSW |
12 |
116,023,347 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5709:Zfp386
|
UTSW |
12 |
116,023,305 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6156:Zfp386
|
UTSW |
12 |
116,023,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6184:Zfp386
|
UTSW |
12 |
116,024,133 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6423:Zfp386
|
UTSW |
12 |
116,023,733 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8015:Zfp386
|
UTSW |
12 |
116,023,027 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8120:Zfp386
|
UTSW |
12 |
116,018,573 (GRCm39) |
missense |
unknown |
|
|
R8137:Zfp386
|
UTSW |
12 |
116,023,268 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9093:Zfp386
|
UTSW |
12 |
116,023,878 (GRCm39) |
nonsense |
probably null |
|
|
R9269:Zfp386
|
UTSW |
12 |
116,023,283 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9320:Zfp386
|
UTSW |
12 |
116,023,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9331:Zfp386
|
UTSW |
12 |
116,011,433 (GRCm39) |
start gained |
probably benign |
|
|
R9641:Zfp386
|
UTSW |
12 |
116,023,330 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Zfp386
|
UTSW |
12 |
116,018,393 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCGTAAAATTCAGCATTCCA -3'
(R):5'- TGATAGTGACCTGTAAATAAGTCAGAC -3'
Sequencing Primer
(F):5'- GGCAAAGCCTTTAAATATTGCTC -3'
(R):5'- GAACATTGGGTAAAGGCCTTTCCAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation