Incidental Mutation 'R3742:Zfp386'
| ID |
270419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp386
|
| Ensembl Gene |
ENSMUSG00000042063 |
| Gene Name |
zinc finger protein 386 (Kruppel-like) |
| Synonyms |
|
| MMRRC Submission |
040728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R3742 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116011334-116026851 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 116023170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 296
(L296*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073551]
[ENSMUST00000183125]
|
| AlphaFold |
Q1WWJ5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073551
AA Change: L261*
|
| SMART Domains |
Protein: ENSMUSP00000073241
Gene: ENSMUSG00000042063
AA Change: L261*
| 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 |
noncoding transcript
Transcript: ENSMUST00000182566
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183125
AA Change: L296*
|
| SMART Domains |
Protein: ENSMUSP00000138305
Gene: ENSMUSG00000042063
AA Change: L296*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
All alleles(4) : Gene trapped(4)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,334,828 (GRCm39) |
H41Q |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,982,938 (GRCm39) |
R3605M |
unknown |
Het |
| Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,095,076 (GRCm39) |
M718T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,058 (GRCm39) |
T842S |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,532,973 (GRCm39) |
Q388R |
probably benign |
Het |
| Fbxo6 |
A |
G |
4: 148,234,090 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
C |
4: 82,930,104 (GRCm39) |
Y281D |
probably damaging |
Het |
| Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
| Gtpbp2 |
A |
G |
17: 46,476,808 (GRCm39) |
T329A |
probably benign |
Het |
| Hemgn |
T |
C |
4: 46,396,421 (GRCm39) |
T272A |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,213,812 (GRCm39) |
C22R |
probably damaging |
Het |
| Hoxc13 |
G |
A |
15: 102,829,873 (GRCm39) |
G84D |
possibly damaging |
Het |
| Ing5 |
T |
A |
1: 93,740,398 (GRCm39) |
S106R |
probably damaging |
Het |
| Mbd6 |
G |
A |
10: 127,120,812 (GRCm39) |
|
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
| Or10ag52 |
A |
G |
2: 87,043,340 (GRCm39) |
I35V |
probably benign |
Het |
| Or5b106 |
A |
G |
19: 13,123,258 (GRCm39) |
F255S |
probably damaging |
Het |
| Or7e168 |
A |
T |
9: 19,720,195 (GRCm39) |
I194F |
probably benign |
Het |
| Or7g25 |
A |
G |
9: 19,159,979 (GRCm39) |
S239P |
possibly damaging |
Het |
| Pde4d |
T |
G |
13: 109,877,013 (GRCm39) |
V53G |
probably benign |
Het |
| Shisa9 |
G |
A |
16: 12,085,528 (GRCm39) |
R379Q |
probably damaging |
Het |
| Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
| Zfp605 |
G |
T |
5: 110,276,564 (GRCm39) |
G561W |
probably damaging |
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 |
|
|
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 |
|
|
R9536:Zfp386
|
UTSW |
12 |
116,023,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCTCCTGTGGCCAAAAGCAC -3'
(R):5'- GGAATGCTGAATTTTACGCCTAGTAAC -3'
Sequencing Primer
(F):5'- TGTGGCCAAAAGCACAATACTAATG -3'
(R):5'- ACATTGTGTCACAATCTATACTCTTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation