Incidental Mutation 'IGL01407:Zfp719'
| ID |
79841 |
| 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 # |
IGL01407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43229034-43242659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43233611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 10
(K10I)
|
| 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: K10I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000050968
Gene: ENSMUSG00000030469
AA Change: K10I
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,076,288 (GRCm39) |
D1140V |
probably damaging |
Het |
| Ak1 |
G |
T |
2: 32,523,507 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,190,848 (GRCm39) |
L411H |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,921 (GRCm39) |
N569K |
probably benign |
Het |
| Bst2 |
C |
A |
8: 71,989,830 (GRCm39) |
R81L |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,683 (GRCm39) |
T57M |
possibly damaging |
Het |
| Cp |
A |
T |
3: 20,031,369 (GRCm39) |
D602V |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,312,115 (GRCm39) |
I156T |
probably damaging |
Het |
| Elp4 |
G |
A |
2: 105,622,653 (GRCm39) |
R349W |
probably damaging |
Het |
| Eml6 |
G |
A |
11: 29,705,021 (GRCm39) |
R1508* |
probably null |
Het |
| Etl4 |
T |
C |
2: 20,748,667 (GRCm39) |
L335S |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,289,319 (GRCm39) |
I68K |
probably benign |
Het |
| Fyco1 |
G |
T |
9: 123,657,944 (GRCm39) |
A744D |
probably damaging |
Het |
| Gm22165 |
G |
T |
3: 64,012,886 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,280,326 (GRCm39) |
M1T |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,709,404 (GRCm39) |
H313L |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,210,719 (GRCm39) |
Y212C |
probably damaging |
Het |
| Hyal5 |
G |
T |
6: 24,876,406 (GRCm39) |
S93I |
probably benign |
Het |
| Itgb1 |
T |
C |
8: 129,449,315 (GRCm39) |
V578A |
probably benign |
Het |
| Klf12 |
A |
T |
14: 100,347,294 (GRCm39) |
N12K |
possibly damaging |
Het |
| Krt40 |
C |
T |
11: 99,432,045 (GRCm39) |
C222Y |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,864,965 (GRCm39) |
L10P |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,837,915 (GRCm39) |
Y213C |
probably damaging |
Het |
| Mitf |
C |
A |
6: 97,994,892 (GRCm39) |
T277K |
possibly damaging |
Het |
| Ncan |
C |
T |
8: 70,554,607 (GRCm39) |
R1070H |
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,083,201 (GRCm39) |
E578G |
probably benign |
Het |
| Patj |
A |
G |
4: 98,301,287 (GRCm39) |
T191A |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,517,027 (GRCm39) |
V533A |
probably benign |
Het |
| Smad5 |
G |
A |
13: 56,883,630 (GRCm39) |
V339I |
probably benign |
Het |
| Spem2 |
T |
A |
11: 69,708,065 (GRCm39) |
Y300F |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,193,790 (GRCm39) |
S605A |
probably damaging |
Het |
| Treml4 |
T |
A |
17: 48,571,877 (GRCm39) |
D93E |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,924 (GRCm39) |
V272E |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,306,826 (GRCm39) |
F445I |
possibly damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,230 (GRCm39) |
Q99L |
possibly 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 |
|
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