Incidental Mutation 'R0947:Zfp386'
| ID |
81680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp386
|
| Ensembl Gene |
ENSMUSG00000042063 |
| Gene Name |
zinc finger protein 386 (Kruppel-like) |
| Synonyms |
|
| MMRRC Submission |
039086-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0947 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116011334-116026851 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116023398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 372
(I372T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073551]
[ENSMUST00000183125]
|
| AlphaFold |
Q1WWJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073551
AA Change: I337T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000073241
Gene: ENSMUSG00000042063
AA Change: I337T
| 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: I372T
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138305
Gene: ENSMUSG00000042063
AA Change: I372T
| 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: 99.2%
- 3x: 98.2%
- 10x: 95.4%
- 20x: 89.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
T |
18: 56,693,910 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
G |
9: 53,415,392 (GRCm39) |
V833A |
probably benign |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,814 (GRCm39) |
I180F |
probably damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,421,286 (GRCm39) |
S188P |
probably benign |
Het |
| Gdpd1 |
T |
G |
11: 86,928,707 (GRCm39) |
E240D |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Htt |
T |
C |
5: 35,056,268 (GRCm39) |
S2681P |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,774,865 (GRCm39) |
D40G |
probably benign |
Het |
| Krt18 |
A |
G |
15: 101,939,163 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,318,182 (GRCm39) |
P2090T |
probably damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,148,090 (GRCm39) |
D290G |
probably benign |
Het |
| Man1a |
A |
T |
10: 53,809,619 (GRCm39) |
Y486* |
probably null |
Het |
| Mcm9 |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
CCTGTCCCTGCTGTCCCTGCTGTCCCTGCTGTCC |
10: 53,413,597 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
T |
12: 70,107,960 (GRCm39) |
C211S |
probably damaging |
Het |
| Npat |
A |
C |
9: 53,481,624 (GRCm39) |
I1111L |
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,879 (GRCm39) |
I287V |
probably benign |
Het |
| Or9i1b |
T |
A |
19: 13,896,535 (GRCm39) |
H50Q |
probably benign |
Het |
| Pbx1 |
A |
G |
1: 168,030,935 (GRCm39) |
S228P |
probably damaging |
Het |
| Pcsk7 |
G |
T |
9: 45,822,470 (GRCm39) |
R230L |
probably damaging |
Het |
| Prom2 |
G |
T |
2: 127,380,183 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Racgap1 |
C |
T |
15: 99,522,195 (GRCm39) |
A458T |
possibly damaging |
Het |
| Rsf1 |
T |
A |
7: 97,318,985 (GRCm39) |
C912S |
probably damaging |
Het |
| Setd2 |
G |
A |
9: 110,377,579 (GRCm39) |
E465K |
possibly damaging |
Het |
| Sgk2 |
T |
A |
2: 162,848,758 (GRCm39) |
D269E |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,536 (GRCm39) |
T11A |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,203,095 (GRCm39) |
S509T |
probably benign |
Het |
| Trim5 |
A |
T |
7: 103,914,958 (GRCm39) |
D370E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,715,574 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
C |
A |
17: 47,252,038 (GRCm39) |
G1501C |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r93 |
A |
T |
17: 18,524,343 (GRCm39) |
R112S |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,924,077 (GRCm39) |
Y222C |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,603,315 (GRCm39) |
Y198N |
probably benign |
Het |
| Xrn1 |
A |
T |
9: 95,880,316 (GRCm39) |
K752I |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,089,062 (GRCm39) |
Y964H |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCAACAACCATCAATGTAATCTTCCA -3'
(R):5'- GGGTTTCTCCCAAGGAACAATTAGTTCTCT -3'
Sequencing Primer
(F):5'- CATCAATGTAATCTTCCAAAGAAGC -3'
(R):5'- ctctcctgtgtgaatcctctg -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation