Incidental Mutation 'IGL01763:Zfp719'
| ID |
153610 |
| 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 # |
IGL01763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43229034-43242659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43233613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 11
(I11F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058104]
[ENSMUST00000205769]
|
| AlphaFold |
Q8BIV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058104
AA Change: I11F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000050968
Gene: ENSMUSG00000030469
AA Change: I11F
| 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 |
noncoding transcript
Transcript: ENSMUST00000147075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205769
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
C |
T |
7: 97,915,339 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,943 (GRCm39) |
E244G |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 109,993,520 (GRCm39) |
I325T |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,064,224 (GRCm39) |
L623P |
probably damaging |
Het |
| Eef1akmt3 |
T |
C |
10: 126,876,952 (GRCm39) |
D65G |
probably benign |
Het |
| Gimap3 |
T |
A |
6: 48,742,430 (GRCm39) |
S167C |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,806,671 (GRCm39) |
F173L |
probably benign |
Het |
| Gm5611 |
A |
G |
9: 16,941,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr161 |
T |
C |
1: 165,144,820 (GRCm39) |
S387P |
probably benign |
Het |
| Hsd17b8 |
A |
G |
17: 34,245,835 (GRCm39) |
V219A |
probably damaging |
Het |
| Mtfr2 |
G |
A |
10: 20,228,683 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,177,245 (GRCm39) |
K437R |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,412,564 (GRCm39) |
D3335G |
probably benign |
Het |
| Ndufaf7 |
C |
T |
17: 79,253,771 (GRCm39) |
T323I |
possibly damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,691 (GRCm39) |
N269S |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,046,293 (GRCm39) |
V190A |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,372,632 (GRCm39) |
V2501A |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,562 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
C |
T |
15: 89,046,184 (GRCm39) |
|
probably null |
Het |
| Sgcd |
A |
G |
11: 47,085,856 (GRCm39) |
|
probably null |
Het |
| Sin3b |
A |
G |
8: 73,473,236 (GRCm39) |
K519E |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
T |
C |
7: 46,649,596 (GRCm39) |
D33G |
probably damaging |
Het |
| Txnrd3 |
C |
T |
6: 89,638,537 (GRCm39) |
T242I |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,709,945 (GRCm39) |
D1964G |
possibly damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,164 (GRCm39) |
T300A |
probably benign |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,450 (GRCm39) |
Q36K |
probably benign |
Het |
|
| Other mutations in Zfp719 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01392:Zfp719
|
APN |
7 |
43,240,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01407:Zfp719
|
APN |
7 |
43,233,611 (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 |
2014-02-04 |
Incidental Mutation