Incidental Mutation 'R6465:Zfp719'
| ID |
517773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp719
|
| Ensembl Gene |
ENSMUSG00000030469 |
| Gene Name |
zinc finger protein 719 |
| Synonyms |
C630016O21Rik, mszf6, 9430094P17Rik |
| MMRRC Submission |
044598-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6465 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43229034-43242659 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 43240108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 565
(Y565*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058104]
[ENSMUST00000205769]
|
| AlphaFold |
Q8BIV1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058104
AA Change: Y565*
|
| SMART Domains |
Protein: ENSMUSP00000050968
Gene: ENSMUSG00000030469
AA Change: Y565*
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
A |
6: 128,518,041 (GRCm39) |
T1415I |
probably damaging |
Het |
| Acvr2b |
T |
A |
9: 119,262,369 (GRCm39) |
W461R |
probably damaging |
Het |
| Adam23 |
G |
T |
1: 63,605,827 (GRCm39) |
C637F |
probably damaging |
Het |
| Apol8 |
T |
G |
15: 77,634,148 (GRCm39) |
T143P |
probably benign |
Het |
| Bfsp1 |
A |
C |
2: 143,699,975 (GRCm39) |
|
probably null |
Het |
| Cytl1 |
T |
C |
5: 37,895,014 (GRCm39) |
V99A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,453,413 (GRCm39) |
V793E |
probably damaging |
Het |
| Fxyd5 |
G |
T |
7: 30,737,305 (GRCm39) |
T81K |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,972,151 (GRCm39) |
Y364C |
probably damaging |
Het |
| Get3 |
A |
T |
8: 85,745,194 (GRCm39) |
M291K |
probably benign |
Het |
| Haghl |
T |
C |
17: 26,002,793 (GRCm39) |
N190S |
possibly damaging |
Het |
| Inpp5j |
C |
A |
11: 3,452,293 (GRCm39) |
R319L |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,260,188 (GRCm39) |
N304S |
probably benign |
Het |
| Isoc1 |
T |
A |
18: 58,804,328 (GRCm39) |
C119S |
probably damaging |
Het |
| Klhl18 |
A |
G |
9: 110,257,988 (GRCm39) |
M414T |
probably benign |
Het |
| Krtap2-4 |
A |
G |
11: 99,505,585 (GRCm39) |
|
probably benign |
Het |
| Krtap3-1 |
G |
A |
11: 99,457,277 (GRCm39) |
P45S |
possibly damaging |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,711,887 (GRCm39) |
V1754A |
possibly damaging |
Het |
| Nedd4l |
T |
A |
18: 65,288,335 (GRCm39) |
D119E |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,452,929 (GRCm39) |
V548A |
probably benign |
Het |
| Or5m12 |
A |
T |
2: 85,734,883 (GRCm39) |
S172T |
probably benign |
Het |
| Or6b6 |
A |
T |
7: 106,571,419 (GRCm39) |
V44E |
possibly damaging |
Het |
| Parvg |
A |
G |
15: 84,213,141 (GRCm39) |
D127G |
probably damaging |
Het |
| Pate13 |
A |
T |
9: 35,819,921 (GRCm39) |
N25Y |
possibly damaging |
Het |
| Piezo2 |
T |
A |
18: 63,174,734 (GRCm39) |
M2007L |
possibly damaging |
Het |
| Pou2f3 |
A |
C |
9: 43,051,162 (GRCm39) |
F175V |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,233,209 (GRCm39) |
I958T |
probably damaging |
Het |
| Pwwp2b |
T |
C |
7: 138,835,951 (GRCm39) |
V464A |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,468,582 (GRCm39) |
Y982H |
probably damaging |
Het |
| Rad17 |
T |
A |
13: 100,773,588 (GRCm39) |
N202I |
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,977,733 (GRCm39) |
D271E |
possibly damaging |
Het |
| Sos2 |
T |
C |
12: 69,643,549 (GRCm39) |
S943G |
probably benign |
Het |
| Tdpoz6 |
A |
G |
3: 93,600,303 (GRCm39) |
I22T |
probably damaging |
Het |
| Tm9sf2 |
A |
G |
14: 122,378,619 (GRCm39) |
H241R |
probably benign |
Het |
| Ttc8 |
A |
G |
12: 98,930,829 (GRCm39) |
E291G |
probably damaging |
Het |
| Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,096,576 (GRCm39) |
D1219E |
probably damaging |
Het |
| Zc3hav1 |
T |
C |
6: 38,308,784 (GRCm39) |
Y586C |
possibly damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,976,618 (GRCm39) |
F471I |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGTGGAATGGCCTTCAG -3'
(R):5'- ACTTATCACTGAAGGCCTTCC -3'
Sequencing Primer
(F):5'- TTCACAGTGGAGAGAAATGTTACCC -3'
(R):5'- TGTGCTGAGAACTGACCTATC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation