Incidental Mutation 'IGL03071:Zfp386'
| ID |
417506 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp386
|
| Ensembl Gene |
ENSMUSG00000042063 |
| Gene Name |
zinc finger protein 386 (Kruppel-like) |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL03071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
116011334-116026851 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116022760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 124
(H124Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073551]
[ENSMUST00000183125]
|
| AlphaFold |
Q1WWJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073551
AA Change: H124Q
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000073241
Gene: ENSMUSG00000042063
AA Change: H124Q
| 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 benign
Transcript: ENSMUST00000183125
AA Change: H159Q
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138305
Gene: ENSMUSG00000042063
AA Change: H159Q
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
A |
8: 41,278,104 (GRCm39) |
L165H |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,989,282 (GRCm39) |
I3522T |
possibly damaging |
Het |
| Anks1 |
G |
A |
17: 28,227,173 (GRCm39) |
A609T |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,833,117 (GRCm39) |
D1138G |
possibly damaging |
Het |
| Appl2 |
T |
C |
10: 83,476,970 (GRCm39) |
|
probably null |
Het |
| Arhgef19 |
A |
T |
4: 140,976,313 (GRCm39) |
I385F |
possibly damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,343 (GRCm39) |
D183G |
probably damaging |
Het |
| Ccdc134 |
G |
A |
15: 82,018,826 (GRCm39) |
V119M |
possibly damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
| Clec2d |
T |
C |
6: 129,160,165 (GRCm39) |
S60P |
probably benign |
Het |
| Cts6 |
A |
T |
13: 61,350,064 (GRCm39) |
F6I |
probably damaging |
Het |
| Cyyr1 |
G |
A |
16: 85,262,449 (GRCm39) |
H103Y |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,371,668 (GRCm39) |
S120T |
possibly damaging |
Het |
| Dot1l |
T |
C |
10: 80,624,513 (GRCm39) |
S994P |
probably benign |
Het |
| Eya4 |
T |
G |
10: 23,198,971 (GRCm39) |
D3A |
probably benign |
Het |
| Fhip2b |
A |
G |
14: 70,823,649 (GRCm39) |
C574R |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gria1 |
A |
T |
11: 56,902,936 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
T |
C |
12: 51,815,957 (GRCm39) |
T1377A |
probably benign |
Het |
| Magi3 |
T |
G |
3: 103,923,202 (GRCm39) |
K1172Q |
possibly damaging |
Het |
| Map3k1 |
A |
C |
13: 111,892,059 (GRCm39) |
D1065E |
possibly damaging |
Het |
| Mindy4b-ps |
A |
T |
3: 58,717,158 (GRCm39) |
V242D |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,238,929 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
C |
A |
1: 162,866,766 (GRCm39) |
G657C |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,784,395 (GRCm39) |
W318R |
probably damaging |
Het |
| Or10j5 |
A |
G |
1: 172,784,502 (GRCm39) |
T47A |
probably benign |
Het |
| Pacsin3 |
G |
A |
2: 91,090,837 (GRCm39) |
R48H |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,229,722 (GRCm39) |
E1114G |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,617,848 (GRCm39) |
D3226E |
probably benign |
Het |
| Prl4a1 |
A |
T |
13: 28,204,246 (GRCm39) |
E96V |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,315,580 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,530,291 (GRCm39) |
L685F |
possibly damaging |
Het |
| Spata1 |
A |
G |
3: 146,181,089 (GRCm39) |
Y290H |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
| Tifa |
T |
G |
3: 127,590,728 (GRCm39) |
Y166* |
probably null |
Het |
| Tnfsf10 |
G |
A |
3: 27,389,769 (GRCm39) |
D277N |
probably damaging |
Het |
| Tram1 |
A |
T |
1: 13,649,998 (GRCm39) |
Y75* |
probably null |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,368 (GRCm39) |
N244I |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,855,685 (GRCm39) |
I248T |
possibly damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,589,182 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation