Incidental Mutation 'IGL01931:Zfp345'
ID |
180443 |
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 # |
IGL01931
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
150312911-150326983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 150315270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 89
(H89R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109914]
|
AlphaFold |
A2AQA1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109914
AA Change: H89R
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105540 Gene: ENSMUSG00000074731 AA Change: H89R
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533L02Rik |
A |
G |
7: 124,917,869 (GRCm39) |
E87G |
unknown |
Het |
Ano2 |
A |
G |
6: 125,959,708 (GRCm39) |
Y656C |
probably damaging |
Het |
Cckbr |
T |
C |
7: 105,075,310 (GRCm39) |
S27P |
probably benign |
Het |
Celsr1 |
T |
A |
15: 85,791,861 (GRCm39) |
N2580I |
probably damaging |
Het |
Cfap221 |
A |
G |
1: 119,860,625 (GRCm39) |
L667P |
probably damaging |
Het |
Col16a1 |
T |
C |
4: 129,966,634 (GRCm39) |
C555R |
possibly damaging |
Het |
Dync2h1 |
A |
G |
9: 7,114,973 (GRCm39) |
V162A |
probably damaging |
Het |
Dync2h1 |
G |
A |
9: 7,011,207 (GRCm39) |
S3669L |
probably benign |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm4922 |
A |
G |
10: 18,660,042 (GRCm39) |
S227P |
probably benign |
Het |
Grin2c |
A |
G |
11: 115,144,736 (GRCm39) |
F597L |
probably damaging |
Het |
Hook3 |
G |
A |
8: 26,578,083 (GRCm39) |
|
probably benign |
Het |
Ltv1 |
A |
G |
10: 13,061,245 (GRCm39) |
I106T |
probably damaging |
Het |
Mdc1 |
T |
C |
17: 36,159,123 (GRCm39) |
V501A |
probably benign |
Het |
Myo15a |
T |
A |
11: 60,386,964 (GRCm39) |
C667S |
probably damaging |
Het |
Myom3 |
T |
C |
4: 135,516,950 (GRCm39) |
V840A |
probably benign |
Het |
Naip1 |
G |
T |
13: 100,545,540 (GRCm39) |
C1329* |
probably null |
Het |
Oas1c |
A |
C |
5: 120,943,560 (GRCm39) |
I193S |
probably benign |
Het |
Osbp2 |
C |
T |
11: 3,655,388 (GRCm39) |
|
probably null |
Het |
Phf1 |
T |
C |
17: 27,154,509 (GRCm39) |
|
probably benign |
Het |
Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
Ppox |
T |
C |
1: 171,105,456 (GRCm39) |
Q302R |
probably null |
Het |
Sec24b |
G |
A |
3: 129,803,448 (GRCm39) |
P305S |
probably benign |
Het |
Spink5 |
A |
T |
18: 44,148,705 (GRCm39) |
I923F |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,504,098 (GRCm39) |
V352E |
probably damaging |
Het |
Tpi1 |
A |
G |
6: 124,789,603 (GRCm39) |
V152A |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Wdfy4 |
C |
T |
14: 32,877,710 (GRCm39) |
G85S |
probably damaging |
Het |
Wnk4 |
A |
G |
11: 101,159,310 (GRCm39) |
T139A |
possibly damaging |
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 |
IGL01020:Zfp345
|
APN |
2 |
150,314,967 (GRCm39) |
missense |
possibly damaging |
0.68 |
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 |
2014-05-07 |