Incidental Mutation 'IGL00846:Zfp345'
ID |
14968 |
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 # |
IGL00846
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
150312911-150326983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 150314538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 333
(G333D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109914]
|
AlphaFold |
A2AQA1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109914
AA Change: G333D
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105540 Gene: ENSMUSG00000074731 AA Change: G333D
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn2l |
T |
C |
7: 126,098,350 (GRCm39) |
T181A |
probably damaging |
Het |
Caskin1 |
T |
C |
17: 24,718,323 (GRCm39) |
|
probably null |
Het |
Cass4 |
A |
C |
2: 172,271,643 (GRCm39) |
|
probably benign |
Het |
Cdh26 |
A |
T |
2: 178,123,417 (GRCm39) |
Y672F |
possibly damaging |
Het |
Cep290 |
T |
A |
10: 100,376,195 (GRCm39) |
|
probably benign |
Het |
Cntnap2 |
T |
C |
6: 47,169,972 (GRCm39) |
L1146P |
probably benign |
Het |
Cntnap5b |
T |
G |
1: 100,091,948 (GRCm39) |
C230G |
probably damaging |
Het |
Ctnnd1 |
C |
T |
2: 84,452,354 (GRCm39) |
|
probably null |
Het |
Cux1 |
A |
G |
5: 136,355,650 (GRCm39) |
I324T |
probably damaging |
Het |
Dnajb4 |
T |
C |
3: 151,899,118 (GRCm39) |
N36S |
probably damaging |
Het |
Fancc |
T |
A |
13: 63,488,270 (GRCm39) |
T237S |
possibly damaging |
Het |
Fip1l1 |
A |
G |
5: 74,747,726 (GRCm39) |
|
probably benign |
Het |
Hemgn |
G |
T |
4: 46,396,171 (GRCm39) |
T355K |
possibly damaging |
Het |
Hivep1 |
T |
A |
13: 42,321,092 (GRCm39) |
L42* |
probably null |
Het |
Hps3 |
A |
G |
3: 20,079,956 (GRCm39) |
W234R |
probably benign |
Het |
Kit |
A |
T |
5: 75,801,471 (GRCm39) |
N586I |
probably damaging |
Het |
Mettl14 |
T |
A |
3: 123,165,012 (GRCm39) |
K109N |
probably damaging |
Het |
Mmab |
A |
T |
5: 114,571,378 (GRCm39) |
M166K |
probably benign |
Het |
Naprt |
T |
A |
15: 75,763,637 (GRCm39) |
Y395F |
probably benign |
Het |
Nostrin |
C |
T |
2: 69,015,899 (GRCm39) |
|
probably benign |
Het |
Pgap1 |
G |
T |
1: 54,531,180 (GRCm39) |
|
probably benign |
Het |
Plpp5 |
A |
T |
8: 26,210,585 (GRCm39) |
I59F |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,089,109 (GRCm39) |
|
probably benign |
Het |
Scn4a |
A |
T |
11: 106,218,944 (GRCm39) |
V958D |
probably benign |
Het |
Serpinb3b |
T |
A |
1: 107,083,579 (GRCm39) |
N200I |
probably damaging |
Het |
Slc22a15 |
T |
A |
3: 101,768,136 (GRCm39) |
Q512L |
probably benign |
Het |
Tmf1 |
A |
T |
6: 97,150,277 (GRCm39) |
Y477N |
possibly damaging |
Het |
Trim10 |
T |
A |
17: 37,182,584 (GRCm39) |
L150H |
probably damaging |
Het |
Ttc41 |
A |
G |
10: 86,572,797 (GRCm39) |
E723G |
possibly damaging |
Het |
Usp25 |
A |
G |
16: 76,859,293 (GRCm39) |
S264G |
probably damaging |
Het |
Vopp1 |
A |
G |
6: 57,731,465 (GRCm39) |
|
probably benign |
Het |
Wapl |
G |
T |
14: 34,414,701 (GRCm39) |
|
probably benign |
Het |
Wbp1 |
A |
G |
6: 83,097,022 (GRCm39) |
F93S |
probably damaging |
Het |
Wt1 |
G |
T |
2: 104,997,302 (GRCm39) |
R413L |
probably damaging |
Het |
Zmynd11 |
C |
A |
13: 9,770,808 (GRCm39) |
|
probably null |
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 |
IGL01020:Zfp345
|
APN |
2 |
150,314,967 (GRCm39) |
missense |
possibly damaging |
0.68 |
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 |
2012-12-06 |