Incidental Mutation 'R3741:Zfp386'
ID |
270379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp386
|
Ensembl Gene |
ENSMUSG00000042063 |
Gene Name |
zinc finger protein 386 (Kruppel-like) |
Synonyms |
|
MMRRC Submission |
040727-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R3741 (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: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
All alleles(4) : Gene trapped(4)
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aspm |
T |
C |
1: 139,406,357 (GRCm39) |
V1748A |
possibly damaging |
Het |
Atp10b |
A |
T |
11: 43,126,489 (GRCm39) |
S1082C |
probably damaging |
Het |
Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bbip1 |
T |
C |
19: 53,920,606 (GRCm39) |
M1V |
probably null |
Het |
Bbox1 |
A |
G |
2: 110,135,922 (GRCm39) |
I19T |
possibly damaging |
Het |
Bclaf3 |
T |
A |
X: 158,334,828 (GRCm39) |
H41Q |
probably benign |
Het |
Ctsm |
T |
A |
13: 61,687,441 (GRCm39) |
Q107L |
probably benign |
Het |
Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
Cyp2a4 |
A |
C |
7: 26,007,969 (GRCm39) |
K125N |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,896,014 (GRCm39) |
S701P |
probably benign |
Het |
Dnah1 |
A |
G |
14: 30,987,424 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
A |
G |
12: 118,095,076 (GRCm39) |
M718T |
probably benign |
Het |
Dnah2 |
C |
A |
11: 69,339,295 (GRCm39) |
A3071S |
probably damaging |
Het |
Epb41l4a |
A |
T |
18: 33,961,155 (GRCm39) |
|
probably null |
Het |
Fam135a |
A |
T |
1: 24,053,892 (GRCm39) |
M1215K |
probably damaging |
Het |
Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
Hhipl1 |
A |
G |
12: 108,284,976 (GRCm39) |
Y443C |
probably damaging |
Het |
Hoxc13 |
G |
A |
15: 102,829,873 (GRCm39) |
G84D |
possibly damaging |
Het |
Ifi207 |
T |
C |
1: 173,555,128 (GRCm39) |
I851M |
probably damaging |
Het |
Lipk |
T |
G |
19: 33,999,107 (GRCm39) |
L134R |
probably damaging |
Het |
Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
Msrb3 |
A |
T |
10: 120,620,119 (GRCm39) |
F67I |
probably damaging |
Het |
Myo1a |
A |
G |
10: 127,550,767 (GRCm39) |
D593G |
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 |
Optn |
C |
A |
2: 5,039,009 (GRCm39) |
M371I |
possibly damaging |
Het |
Rims1 |
A |
T |
1: 22,443,667 (GRCm39) |
V380D |
probably damaging |
Het |
Rnf148 |
A |
G |
6: 23,654,064 (GRCm39) |
C311R |
possibly damaging |
Het |
Rrp12 |
T |
C |
19: 41,874,167 (GRCm39) |
D377G |
probably damaging |
Het |
Sbp |
T |
A |
17: 24,164,556 (GRCm39) |
|
probably benign |
Het |
Sipa1 |
T |
C |
19: 5,704,885 (GRCm39) |
E570G |
probably damaging |
Het |
Spem2 |
T |
C |
11: 69,707,556 (GRCm39) |
R470G |
possibly damaging |
Het |
Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,620,703 (GRCm39) |
K13995* |
probably null |
Het |
Vmn1r69 |
A |
G |
7: 10,314,069 (GRCm39) |
Y221H |
possibly 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 |
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 |
|
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'- CAGTCTCCTGTGGCCAAAAG -3'
(R):5'- ATGCTGAATTTTACGCCTAGTAACG -3'
Sequencing Primer
(F):5'- TGTGGCCAAAAGCACAATACTAATG -3'
(R):5'- ACATTGTGTCACAATCTATACTCTTG -3'
|
Posted On |
2015-03-18 |