Incidental Mutation 'IGL01020:Zfp345'
ID |
53459 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp345
|
Ensembl Gene |
ENSMUSG00000074731 |
Gene Name |
zinc finger protein 345 |
Synonyms |
OTTMUSG00000015743 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
IGL01020
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
150312911-150326983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 150314967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 190
(N190S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109914]
|
AlphaFold |
A2AQA1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109914
AA Change: N190S
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105540 Gene: ENSMUSG00000074731 AA Change: N190S
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
66 |
9.5e-20 |
SMART |
ZnF_C2H2
|
103 |
125 |
2e-2 |
SMART |
ZnF_C2H2
|
131 |
153 |
2.9e-6 |
SMART |
ZnF_C2H2
|
159 |
181 |
4.1e-3 |
SMART |
ZnF_C2H2
|
215 |
237 |
2.6e-7 |
SMART |
ZnF_C2H2
|
243 |
265 |
1.6e-5 |
SMART |
ZnF_C2H2
|
271 |
293 |
4e-7 |
SMART |
ZnF_C2H2
|
299 |
321 |
1.1e-5 |
SMART |
ZnF_C2H2
|
327 |
349 |
5.9e-7 |
SMART |
ZnF_C2H2
|
365 |
387 |
4.4e-7 |
SMART |
ZnF_C2H2
|
393 |
415 |
7.3e-6 |
SMART |
ZnF_C2H2
|
421 |
443 |
2.7e-5 |
SMART |
ZnF_C2H2
|
449 |
471 |
1.5e-4 |
SMART |
ZnF_C2H2
|
477 |
499 |
1.3e-5 |
SMART |
ZnF_C2H2
|
505 |
527 |
5.1e-6 |
SMART |
ZnF_C2H2
|
533 |
555 |
9.2e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117906
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt3 |
T |
G |
1: 176,958,533 (GRCm39) |
|
probably benign |
Het |
Aldh18a1 |
C |
T |
19: 40,557,625 (GRCm39) |
|
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,168,657 (GRCm39) |
H880R |
probably benign |
Het |
Arhgef7 |
G |
A |
8: 11,832,540 (GRCm39) |
S5N |
probably damaging |
Het |
Atp6v1e1 |
T |
C |
6: 120,785,372 (GRCm39) |
M40V |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,744,836 (GRCm39) |
V51A |
probably damaging |
Het |
Atxn10 |
A |
G |
15: 85,259,623 (GRCm39) |
|
probably null |
Het |
Btbd16 |
T |
A |
7: 130,426,091 (GRCm39) |
I502N |
probably damaging |
Het |
Celsr2 |
G |
T |
3: 108,310,586 (GRCm39) |
L1499M |
probably damaging |
Het |
Cfl1 |
C |
T |
19: 5,543,709 (GRCm39) |
|
probably benign |
Het |
Cul9 |
T |
C |
17: 46,849,949 (GRCm39) |
E500G |
probably damaging |
Het |
Dusp3 |
G |
T |
11: 101,875,470 (GRCm39) |
N31K |
probably benign |
Het |
Erbb4 |
A |
T |
1: 68,337,608 (GRCm39) |
|
probably benign |
Het |
Fam234b |
G |
A |
6: 135,188,904 (GRCm39) |
V170M |
probably benign |
Het |
Fign |
A |
G |
2: 63,809,354 (GRCm39) |
S639P |
probably damaging |
Het |
Gbp7 |
A |
G |
3: 142,248,618 (GRCm39) |
T294A |
probably benign |
Het |
Golm2 |
G |
A |
2: 121,756,203 (GRCm39) |
V411I |
probably benign |
Het |
Ift80 |
C |
T |
3: 68,871,012 (GRCm39) |
D195N |
probably damaging |
Het |
Kif21b |
G |
T |
1: 136,081,832 (GRCm39) |
|
probably benign |
Het |
Kif2c |
A |
T |
4: 117,024,101 (GRCm39) |
F397I |
probably damaging |
Het |
Lamc3 |
T |
C |
2: 31,804,668 (GRCm39) |
V567A |
probably benign |
Het |
Letmd1 |
T |
C |
15: 100,369,640 (GRCm39) |
M36T |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,888,259 (GRCm39) |
W2220R |
probably damaging |
Het |
Mical2 |
T |
A |
7: 111,914,283 (GRCm39) |
|
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,494,973 (GRCm39) |
D691G |
possibly damaging |
Het |
Myh8 |
G |
A |
11: 67,174,229 (GRCm39) |
V189M |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,804,644 (GRCm39) |
R1418K |
probably benign |
Het |
Nkpd1 |
G |
A |
7: 19,252,674 (GRCm39) |
V7M |
possibly damaging |
Het |
Nrxn2 |
G |
A |
19: 6,543,473 (GRCm39) |
V1116I |
probably benign |
Het |
Nynrin |
A |
G |
14: 56,105,905 (GRCm39) |
M875V |
probably benign |
Het |
Oat |
T |
C |
7: 132,168,902 (GRCm39) |
|
probably null |
Het |
Or7g35 |
G |
A |
9: 19,496,616 (GRCm39) |
S261N |
possibly damaging |
Het |
Or8g24 |
A |
C |
9: 38,989,747 (GRCm39) |
I98R |
probably damaging |
Het |
Prkaa2 |
C |
T |
4: 104,932,659 (GRCm39) |
R63Q |
probably damaging |
Het |
Psg29 |
T |
A |
7: 16,942,657 (GRCm39) |
S219R |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,047,911 (GRCm39) |
|
probably null |
Het |
Pwwp2b |
G |
T |
7: 138,834,771 (GRCm39) |
E71* |
probably null |
Het |
Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
Serpina9 |
T |
A |
12: 103,974,845 (GRCm39) |
N103Y |
probably damaging |
Het |
Sis |
T |
C |
3: 72,874,171 (GRCm39) |
E10G |
probably damaging |
Het |
Tbck |
C |
T |
3: 132,432,903 (GRCm39) |
Q438* |
probably null |
Het |
Thnsl1 |
T |
C |
2: 21,217,305 (GRCm39) |
L353S |
probably damaging |
Het |
Tmem237 |
C |
A |
1: 59,146,612 (GRCm39) |
|
probably null |
Het |
Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
Zbtb2 |
A |
G |
10: 4,319,702 (GRCm39) |
I108T |
probably benign |
Het |
|
Other mutations in Zfp345 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00833:Zfp345
|
APN |
2 |
150,314,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00846:Zfp345
|
APN |
2 |
150,314,538 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL01931:Zfp345
|
APN |
2 |
150,315,270 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02237:Zfp345
|
APN |
2 |
150,316,805 (GRCm39) |
splice site |
probably benign |
|
IGL02335:Zfp345
|
APN |
2 |
150,316,463 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02592:Zfp345
|
APN |
2 |
150,315,229 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02736:Zfp345
|
APN |
2 |
150,316,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R0095:Zfp345
|
UTSW |
2 |
150,314,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Zfp345
|
UTSW |
2 |
150,314,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R0143:Zfp345
|
UTSW |
2 |
150,314,475 (GRCm39) |
missense |
probably benign |
|
R0371:Zfp345
|
UTSW |
2 |
150,313,983 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0412:Zfp345
|
UTSW |
2 |
150,315,323 (GRCm39) |
missense |
probably benign |
0.00 |
R0415:Zfp345
|
UTSW |
2 |
150,316,479 (GRCm39) |
splice site |
probably benign |
|
R0420:Zfp345
|
UTSW |
2 |
150,315,163 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0697:Zfp345
|
UTSW |
2 |
150,314,829 (GRCm39) |
missense |
probably benign |
0.13 |
R0799:Zfp345
|
UTSW |
2 |
150,314,271 (GRCm39) |
missense |
probably benign |
0.27 |
R1881:Zfp345
|
UTSW |
2 |
150,314,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Zfp345
|
UTSW |
2 |
150,316,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R2004:Zfp345
|
UTSW |
2 |
150,314,038 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2152:Zfp345
|
UTSW |
2 |
150,314,578 (GRCm39) |
missense |
probably benign |
0.00 |
R2153:Zfp345
|
UTSW |
2 |
150,314,578 (GRCm39) |
missense |
probably benign |
0.00 |
R3051:Zfp345
|
UTSW |
2 |
150,316,772 (GRCm39) |
missense |
probably benign |
0.07 |
R3880:Zfp345
|
UTSW |
2 |
150,314,075 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3939:Zfp345
|
UTSW |
2 |
150,314,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R4801:Zfp345
|
UTSW |
2 |
150,315,228 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4802:Zfp345
|
UTSW |
2 |
150,315,228 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4897:Zfp345
|
UTSW |
2 |
150,314,608 (GRCm39) |
missense |
probably benign |
0.05 |
R5606:Zfp345
|
UTSW |
2 |
150,316,788 (GRCm39) |
nonsense |
probably null |
|
R6009:Zfp345
|
UTSW |
2 |
150,314,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R6191:Zfp345
|
UTSW |
2 |
150,315,010 (GRCm39) |
missense |
probably benign |
0.11 |
R6194:Zfp345
|
UTSW |
2 |
150,314,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R6782:Zfp345
|
UTSW |
2 |
150,315,274 (GRCm39) |
missense |
probably damaging |
0.97 |
R6932:Zfp345
|
UTSW |
2 |
150,315,331 (GRCm39) |
missense |
probably damaging |
0.99 |
R7356:Zfp345
|
UTSW |
2 |
150,314,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R7980:Zfp345
|
UTSW |
2 |
150,314,723 (GRCm39) |
nonsense |
probably null |
|
R8387:Zfp345
|
UTSW |
2 |
150,314,740 (GRCm39) |
missense |
probably damaging |
0.96 |
R8515:Zfp345
|
UTSW |
2 |
150,314,348 (GRCm39) |
missense |
probably benign |
0.01 |
R8940:Zfp345
|
UTSW |
2 |
150,314,277 (GRCm39) |
missense |
probably benign |
0.40 |
R9038:Zfp345
|
UTSW |
2 |
150,313,864 (GRCm39) |
missense |
probably benign |
0.02 |
R9383:Zfp345
|
UTSW |
2 |
150,314,503 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9480:Zfp345
|
UTSW |
2 |
150,315,212 (GRCm39) |
nonsense |
probably null |
|
R9723:Zfp345
|
UTSW |
2 |
150,314,189 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-06-28 |