Incidental Mutation 'IGL01392:Zfp719'
| ID |
79266 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp719
|
| Ensembl Gene |
ENSMUSG00000030469 |
| Gene Name |
zinc finger protein 719 |
| Synonyms |
C630016O21Rik, mszf6, 9430094P17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43229034-43242659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43240554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 714
(F714Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058104]
[ENSMUST00000205769]
|
| AlphaFold |
Q8BIV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058104
AA Change: F714Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050968
Gene: ENSMUSG00000030469
AA Change: F714Y
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
49 |
109 |
1.18e-20 |
SMART |
|
ZnF_C2H2
|
285 |
305 |
4.16e1 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
677 |
699 |
1.47e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205769
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
A |
G |
2: 58,390,558 (GRCm39) |
V2A |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,760,903 (GRCm39) |
Q866L |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,935,914 (GRCm39) |
E295G |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,408,348 (GRCm39) |
D2053G |
unknown |
Het |
| Calr4 |
A |
G |
4: 109,111,071 (GRCm39) |
E272G |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,225,714 (GRCm39) |
S3125G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,165,948 (GRCm39) |
Y538H |
probably damaging |
Het |
| Eri3 |
T |
C |
4: 117,446,356 (GRCm39) |
|
probably null |
Het |
| Fmo6 |
T |
A |
1: 162,757,580 (GRCm39) |
R63* |
probably null |
Het |
| Gm7168 |
G |
A |
17: 14,169,169 (GRCm39) |
D179N |
probably benign |
Het |
| Got1l1 |
T |
C |
8: 27,688,019 (GRCm39) |
T337A |
probably damaging |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,962 (GRCm39) |
I98V |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,923,236 (GRCm39) |
M1191T |
probably benign |
Het |
| Ighv1-54 |
A |
G |
12: 115,157,557 (GRCm39) |
L30P |
probably damaging |
Het |
| Igkv8-30 |
A |
G |
6: 70,094,331 (GRCm39) |
S27P |
probably benign |
Het |
| Kcnab2 |
A |
T |
4: 152,478,254 (GRCm39) |
V335E |
possibly damaging |
Het |
| Klf12 |
A |
T |
14: 100,387,193 (GRCm39) |
I3N |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,063,174 (GRCm39) |
V2510A |
probably benign |
Het |
| Mme |
A |
G |
3: 63,269,467 (GRCm39) |
D592G |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,127 (GRCm39) |
N1727S |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,231,420 (GRCm39) |
S796P |
probably damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,797,120 (GRCm39) |
|
probably benign |
Het |
| Or51f23 |
T |
A |
7: 102,453,061 (GRCm39) |
Y125* |
probably null |
Het |
| Or5b95 |
T |
A |
19: 12,658,167 (GRCm39) |
Y232N |
probably benign |
Het |
| Or5p80 |
C |
T |
7: 108,229,885 (GRCm39) |
R229C |
probably benign |
Het |
| Plekhm2 |
A |
G |
4: 141,369,737 (GRCm39) |
V86A |
probably damaging |
Het |
| Popdc2 |
G |
T |
16: 38,194,493 (GRCm39) |
V305L |
probably benign |
Het |
| Prb1b |
T |
C |
6: 132,289,383 (GRCm39) |
N147S |
unknown |
Het |
| Rttn |
C |
T |
18: 89,013,737 (GRCm39) |
H469Y |
probably benign |
Het |
| Slc2a12 |
T |
C |
10: 22,540,583 (GRCm39) |
V146A |
probably damaging |
Het |
| Sptlc3 |
A |
G |
2: 139,388,341 (GRCm39) |
E111G |
possibly damaging |
Het |
| Zfp108 |
T |
C |
7: 23,957,872 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp719 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Zfp719
|
APN |
7 |
43,233,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01763:Zfp719
|
APN |
7 |
43,233,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03079:Zfp719
|
APN |
7 |
43,240,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Zfp719
|
UTSW |
7 |
43,238,677 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0524:Zfp719
|
UTSW |
7 |
43,238,677 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0542:Zfp719
|
UTSW |
7 |
43,238,677 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0543:Zfp719
|
UTSW |
7 |
43,238,677 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0662:Zfp719
|
UTSW |
7 |
43,233,678 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1390:Zfp719
|
UTSW |
7 |
43,239,867 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2959:Zfp719
|
UTSW |
7 |
43,239,851 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4708:Zfp719
|
UTSW |
7 |
43,239,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Zfp719
|
UTSW |
7 |
43,239,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4710:Zfp719
|
UTSW |
7 |
43,239,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Zfp719
|
UTSW |
7 |
43,240,535 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4729:Zfp719
|
UTSW |
7 |
43,239,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Zfp719
|
UTSW |
7 |
43,240,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Zfp719
|
UTSW |
7 |
43,240,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5949:Zfp719
|
UTSW |
7 |
43,233,541 (GRCm39) |
intron |
probably benign |
|
|
R6063:Zfp719
|
UTSW |
7 |
43,239,050 (GRCm39) |
nonsense |
probably null |
|
|
R6363:Zfp719
|
UTSW |
7 |
43,239,290 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6434:Zfp719
|
UTSW |
7 |
43,240,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6465:Zfp719
|
UTSW |
7 |
43,240,108 (GRCm39) |
nonsense |
probably null |
|
|
R6806:Zfp719
|
UTSW |
7 |
43,235,809 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6925:Zfp719
|
UTSW |
7 |
43,240,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8124:Zfp719
|
UTSW |
7 |
43,239,314 (GRCm39) |
missense |
probably benign |
|
|
R9018:Zfp719
|
UTSW |
7 |
43,233,489 (GRCm39) |
intron |
probably benign |
|
|
R9043:Zfp719
|
UTSW |
7 |
43,239,605 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9484:Zfp719
|
UTSW |
7 |
43,239,581 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9556:Zfp719
|
UTSW |
7 |
43,239,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9647:Zfp719
|
UTSW |
7 |
43,233,602 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Posted On |
2013-11-05 |
Incidental Mutation