Incidental Mutation 'IGL03079:Zfp719'
ID |
417784 |
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 # |
IGL03079
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
43229034-43242659 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43240590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 726
(Y726C)
|
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: Y726C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050968 Gene: ENSMUSG00000030469 AA Change: Y726C
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alx1 |
T |
A |
10: 102,845,209 (GRCm39) |
H274L |
probably damaging |
Het |
Arl6ip4 |
A |
T |
5: 124,254,990 (GRCm39) |
H59L |
possibly damaging |
Het |
C1ra |
A |
G |
6: 124,496,794 (GRCm39) |
Y410C |
probably damaging |
Het |
Ceacam11 |
A |
G |
7: 17,712,361 (GRCm39) |
N270S |
probably benign |
Het |
Cmtr1 |
T |
A |
17: 29,882,267 (GRCm39) |
N39K |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,234,209 (GRCm39) |
D293G |
possibly damaging |
Het |
Cyp2d11 |
T |
C |
15: 82,275,167 (GRCm39) |
E260G |
probably damaging |
Het |
Dnajc13 |
C |
T |
9: 104,090,068 (GRCm39) |
W700* |
probably null |
Het |
Efemp2 |
G |
T |
19: 5,525,155 (GRCm39) |
L20F |
probably damaging |
Het |
Hars1 |
G |
A |
18: 36,903,556 (GRCm39) |
L289F |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,341,662 (GRCm39) |
|
probably benign |
Het |
Iqgap3 |
A |
T |
3: 88,020,477 (GRCm39) |
M374L |
probably benign |
Het |
Lrig2 |
A |
T |
3: 104,398,287 (GRCm39) |
W281R |
probably damaging |
Het |
Lyg2 |
C |
T |
1: 37,946,727 (GRCm39) |
E185K |
possibly damaging |
Het |
Maml2 |
A |
G |
9: 13,532,912 (GRCm39) |
|
probably benign |
Het |
Marchf11 |
T |
C |
15: 26,311,144 (GRCm39) |
S207P |
probably damaging |
Het |
Nipa2 |
A |
T |
7: 55,583,205 (GRCm39) |
V180E |
probably damaging |
Het |
Or4k6 |
A |
T |
14: 50,475,581 (GRCm39) |
C254S |
possibly damaging |
Het |
P2rx5 |
A |
G |
11: 73,055,714 (GRCm39) |
D57G |
possibly damaging |
Het |
Pxdn |
T |
C |
12: 30,052,997 (GRCm39) |
I1058T |
probably damaging |
Het |
Rxfp3 |
C |
A |
15: 11,036,909 (GRCm39) |
M154I |
possibly damaging |
Het |
Slc3a1 |
T |
A |
17: 85,367,251 (GRCm39) |
Y479* |
probably null |
Het |
Tamalin |
T |
C |
15: 101,128,448 (GRCm39) |
V162A |
probably damaging |
Het |
Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,923,332 (GRCm39) |
Y270H |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,382,247 (GRCm39) |
E1986G |
possibly damaging |
Het |
Zfp810 |
T |
C |
9: 22,195,423 (GRCm39) |
E7G |
probably damaging |
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 |
IGL01763:Zfp719
|
APN |
7 |
43,233,613 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2016-08-02 |