Incidental Mutation 'R5250:Zfp568'
ID |
398940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp568
|
Ensembl Gene |
ENSMUSG00000074221 |
Gene Name |
zinc finger protein 568 |
Synonyms |
chato, LOC381866 |
MMRRC Submission |
042821-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5250 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
29683380-29727707 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29716655 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 185
(V185A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074322]
[ENSMUST00000146074]
[ENSMUST00000148442]
[ENSMUST00000177931]
[ENSMUST00000207940]
|
AlphaFold |
E9PYI1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074322
AA Change: V185A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000073930 Gene: ENSMUSG00000074221 AA Change: V185A
Domain | Start | End | E-Value | Type |
KRAB
|
34 |
94 |
2.73e-39 |
SMART |
KRAB
|
124 |
184 |
2.01e-28 |
SMART |
ZnF_C2H2
|
363 |
385 |
7.78e-3 |
SMART |
ZnF_C2H2
|
391 |
413 |
3.95e-4 |
SMART |
ZnF_C2H2
|
419 |
441 |
3.44e-4 |
SMART |
ZnF_C2H2
|
447 |
469 |
2.2e-2 |
SMART |
ZnF_C2H2
|
475 |
497 |
6.67e-2 |
SMART |
ZnF_C2H2
|
503 |
525 |
6.32e-3 |
SMART |
ZnF_C2H2
|
531 |
553 |
4.87e-4 |
SMART |
ZnF_C2H2
|
559 |
581 |
2.09e-3 |
SMART |
ZnF_C2H2
|
587 |
609 |
2.95e-3 |
SMART |
ZnF_C2H2
|
615 |
637 |
3.69e-4 |
SMART |
ZnF_C2H2
|
643 |
665 |
1.12e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146074
AA Change: V184A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000118823 Gene: ENSMUSG00000074221 AA Change: V184A
Domain | Start | End | E-Value | Type |
KRAB
|
34 |
94 |
2.73e-39 |
SMART |
KRAB
|
123 |
183 |
2.01e-28 |
SMART |
ZnF_C2H2
|
362 |
384 |
7.78e-3 |
SMART |
ZnF_C2H2
|
390 |
412 |
3.95e-4 |
SMART |
ZnF_C2H2
|
418 |
440 |
3.44e-4 |
SMART |
ZnF_C2H2
|
446 |
468 |
2.2e-2 |
SMART |
ZnF_C2H2
|
474 |
496 |
6.67e-2 |
SMART |
ZnF_C2H2
|
502 |
524 |
6.32e-3 |
SMART |
ZnF_C2H2
|
530 |
552 |
4.87e-4 |
SMART |
ZnF_C2H2
|
558 |
580 |
2.09e-3 |
SMART |
ZnF_C2H2
|
586 |
608 |
2.95e-3 |
SMART |
ZnF_C2H2
|
614 |
636 |
3.69e-4 |
SMART |
ZnF_C2H2
|
642 |
664 |
1.12e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148442
AA Change: V185A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000118387 Gene: ENSMUSG00000074221 AA Change: V185A
Domain | Start | End | E-Value | Type |
KRAB
|
34 |
94 |
2.73e-39 |
SMART |
KRAB
|
124 |
184 |
2.01e-28 |
SMART |
ZnF_C2H2
|
363 |
385 |
7.78e-3 |
SMART |
ZnF_C2H2
|
391 |
413 |
3.95e-4 |
SMART |
ZnF_C2H2
|
419 |
441 |
3.44e-4 |
SMART |
ZnF_C2H2
|
447 |
469 |
2.2e-2 |
SMART |
ZnF_C2H2
|
475 |
497 |
6.67e-2 |
SMART |
ZnF_C2H2
|
503 |
525 |
6.32e-3 |
SMART |
ZnF_C2H2
|
531 |
553 |
4.87e-4 |
SMART |
ZnF_C2H2
|
559 |
581 |
2.09e-3 |
SMART |
ZnF_C2H2
|
587 |
609 |
2.95e-3 |
SMART |
ZnF_C2H2
|
615 |
637 |
3.69e-4 |
SMART |
ZnF_C2H2
|
643 |
665 |
1.12e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177931
AA Change: V184A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000137438 Gene: ENSMUSG00000074221 AA Change: V184A
Domain | Start | End | E-Value | Type |
KRAB
|
34 |
94 |
2.73e-39 |
SMART |
KRAB
|
123 |
183 |
2.01e-28 |
SMART |
ZnF_C2H2
|
362 |
384 |
7.78e-3 |
SMART |
ZnF_C2H2
|
390 |
412 |
3.95e-4 |
SMART |
ZnF_C2H2
|
418 |
440 |
3.44e-4 |
SMART |
ZnF_C2H2
|
446 |
468 |
2.2e-2 |
SMART |
ZnF_C2H2
|
474 |
496 |
6.67e-2 |
SMART |
ZnF_C2H2
|
502 |
524 |
6.32e-3 |
SMART |
ZnF_C2H2
|
530 |
552 |
4.87e-4 |
SMART |
ZnF_C2H2
|
558 |
580 |
2.09e-3 |
SMART |
ZnF_C2H2
|
586 |
608 |
2.95e-3 |
SMART |
ZnF_C2H2
|
614 |
636 |
3.69e-4 |
SMART |
ZnF_C2H2
|
642 |
664 |
1.12e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207940
|
Meta Mutation Damage Score |
0.1087 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
100% (60/60) |
MGI Phenotype |
PHENOTYPE: Homozygous null mutants are embryonic lethal with growth arrest around E8.5-9.0. Mutant embryo shows shortened anterior-posterior axial extension with defects in somites and midline structures including open gut tube, cardia bifida, and failure to closeneural tube. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
T |
4: 86,135,182 (GRCm39) |
K236* |
probably null |
Het |
Adgre5 |
A |
G |
8: 84,460,069 (GRCm39) |
V109A |
probably benign |
Het |
Adora2a |
T |
C |
10: 75,161,882 (GRCm39) |
I7T |
probably damaging |
Het |
Ankrd6 |
A |
G |
4: 32,860,335 (GRCm39) |
V36A |
probably damaging |
Het |
Arhgef2 |
T |
C |
3: 88,540,955 (GRCm39) |
|
probably null |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
Atg2b |
G |
A |
12: 105,602,024 (GRCm39) |
R1651W |
probably damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,933,870 (GRCm39) |
V553D |
possibly damaging |
Het |
Bard1 |
G |
A |
1: 71,113,722 (GRCm39) |
L420F |
probably damaging |
Het |
Bcat1 |
C |
G |
6: 144,993,165 (GRCm39) |
|
probably null |
Het |
Bpifb5 |
A |
T |
2: 154,066,881 (GRCm39) |
N45Y |
probably benign |
Het |
Btbd17 |
G |
T |
11: 114,682,234 (GRCm39) |
|
probably benign |
Het |
Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
Col11a1 |
A |
G |
3: 114,010,819 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,456,305 (GRCm39) |
N784D |
possibly damaging |
Het |
Dhx38 |
A |
T |
8: 110,283,152 (GRCm39) |
V555D |
probably damaging |
Het |
Dixdc1 |
T |
G |
9: 50,595,035 (GRCm39) |
E230A |
possibly damaging |
Het |
Dnah7b |
T |
G |
1: 46,412,514 (GRCm39) |
V4041G |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,334,968 (GRCm39) |
I1021L |
probably damaging |
Het |
Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
Flt4 |
T |
A |
11: 49,521,227 (GRCm39) |
I412N |
possibly damaging |
Het |
Gabrb1 |
A |
G |
5: 72,026,922 (GRCm39) |
I141V |
possibly damaging |
Het |
Gpc2 |
A |
G |
5: 138,277,230 (GRCm39) |
Y66H |
probably damaging |
Het |
Hoxd3 |
C |
T |
2: 74,574,650 (GRCm39) |
Q99* |
probably null |
Het |
Inpp5d |
T |
C |
1: 87,637,397 (GRCm39) |
V781A |
probably damaging |
Het |
Larp4b |
T |
C |
13: 9,221,013 (GRCm39) |
|
probably benign |
Het |
Lrrfip1 |
T |
A |
1: 91,043,618 (GRCm39) |
S674R |
possibly damaging |
Het |
Megf6 |
A |
G |
4: 154,340,467 (GRCm39) |
T561A |
possibly damaging |
Het |
Mpo |
A |
T |
11: 87,694,259 (GRCm39) |
Q83L |
probably benign |
Het |
Mucl2 |
T |
C |
15: 103,927,733 (GRCm39) |
N75D |
possibly damaging |
Het |
Myh13 |
C |
T |
11: 67,218,085 (GRCm39) |
Q53* |
probably null |
Het |
Myot |
T |
A |
18: 44,479,137 (GRCm39) |
D291E |
probably damaging |
Het |
Nae1 |
A |
G |
8: 105,257,023 (GRCm39) |
|
probably null |
Het |
Ncoa2 |
A |
T |
1: 13,294,913 (GRCm39) |
S2R |
probably damaging |
Het |
Nktr |
T |
A |
9: 121,578,858 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
G |
17: 90,842,869 (GRCm39) |
|
probably benign |
Het |
Or10aa3 |
T |
G |
1: 173,878,838 (GRCm39) |
F300V |
probably benign |
Het |
Or14j4 |
A |
G |
17: 37,920,851 (GRCm39) |
S264P |
probably damaging |
Het |
Or5an1b |
T |
C |
19: 12,299,430 (GRCm39) |
T254A |
probably benign |
Het |
P2rx2 |
T |
C |
5: 110,489,454 (GRCm39) |
E160G |
probably damaging |
Het |
Pcdhga11 |
A |
T |
18: 37,890,990 (GRCm39) |
D666V |
probably damaging |
Het |
Pcm1 |
A |
T |
8: 41,765,242 (GRCm39) |
E1484D |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
Potefam1 |
T |
G |
2: 111,058,422 (GRCm39) |
T124P |
possibly damaging |
Het |
Ppm1e |
T |
C |
11: 87,121,744 (GRCm39) |
I738V |
probably benign |
Het |
Ppp1r13b |
G |
T |
12: 111,811,394 (GRCm39) |
R165S |
probably benign |
Het |
Rasgrp2 |
T |
C |
19: 6,454,343 (GRCm39) |
W129R |
probably damaging |
Het |
Smurf2 |
A |
G |
11: 106,747,005 (GRCm39) |
|
probably null |
Het |
Spmap1 |
C |
A |
11: 97,663,553 (GRCm39) |
W99L |
possibly damaging |
Het |
Ubr2 |
G |
T |
17: 47,241,368 (GRCm39) |
Q1729K |
probably benign |
Het |
Zfp260 |
T |
A |
7: 29,804,392 (GRCm39) |
H97Q |
probably damaging |
Het |
Zfp429 |
G |
T |
13: 67,538,638 (GRCm39) |
R269S |
probably benign |
Het |
|
Other mutations in Zfp568 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00573:Zfp568
|
APN |
7 |
29,721,865 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL00792:Zfp568
|
APN |
7 |
29,714,497 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01133:Zfp568
|
APN |
7 |
29,687,233 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01330:Zfp568
|
APN |
7 |
29,721,702 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03157:Zfp568
|
APN |
7 |
29,722,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R0739:Zfp568
|
UTSW |
7 |
29,722,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R1051:Zfp568
|
UTSW |
7 |
29,721,954 (GRCm39) |
nonsense |
probably null |
|
R1967:Zfp568
|
UTSW |
7 |
29,688,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R2038:Zfp568
|
UTSW |
7 |
29,688,507 (GRCm39) |
missense |
probably null |
1.00 |
R3874:Zfp568
|
UTSW |
7 |
29,722,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R4438:Zfp568
|
UTSW |
7 |
29,721,721 (GRCm39) |
missense |
probably benign |
|
R4584:Zfp568
|
UTSW |
7 |
29,697,617 (GRCm39) |
missense |
probably benign |
0.04 |
R4667:Zfp568
|
UTSW |
7 |
29,722,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Zfp568
|
UTSW |
7 |
29,722,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R4773:Zfp568
|
UTSW |
7 |
29,697,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Zfp568
|
UTSW |
7 |
29,714,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R5541:Zfp568
|
UTSW |
7 |
29,722,301 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5956:Zfp568
|
UTSW |
7 |
29,697,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R6444:Zfp568
|
UTSW |
7 |
29,716,682 (GRCm39) |
missense |
probably benign |
0.01 |
R6600:Zfp568
|
UTSW |
7 |
29,721,948 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7299:Zfp568
|
UTSW |
7 |
29,716,669 (GRCm39) |
missense |
probably benign |
0.34 |
R7316:Zfp568
|
UTSW |
7 |
29,721,681 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7562:Zfp568
|
UTSW |
7 |
29,722,681 (GRCm39) |
missense |
probably benign |
0.04 |
R7664:Zfp568
|
UTSW |
7 |
29,721,715 (GRCm39) |
missense |
probably benign |
|
R7672:Zfp568
|
UTSW |
7 |
29,697,212 (GRCm39) |
missense |
probably damaging |
0.99 |
R7759:Zfp568
|
UTSW |
7 |
29,722,839 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7790:Zfp568
|
UTSW |
7 |
29,722,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R7811:Zfp568
|
UTSW |
7 |
29,697,295 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8110:Zfp568
|
UTSW |
7 |
29,722,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R8194:Zfp568
|
UTSW |
7 |
29,722,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R8254:Zfp568
|
UTSW |
7 |
29,714,558 (GRCm39) |
missense |
probably benign |
0.22 |
R8319:Zfp568
|
UTSW |
7 |
29,697,629 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8836:Zfp568
|
UTSW |
7 |
29,722,459 (GRCm39) |
missense |
probably damaging |
0.98 |
R8902:Zfp568
|
UTSW |
7 |
29,713,307 (GRCm39) |
missense |
probably benign |
0.08 |
R8978:Zfp568
|
UTSW |
7 |
29,716,683 (GRCm39) |
missense |
probably benign |
0.01 |
R9676:Zfp568
|
UTSW |
7 |
29,721,823 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCCTGGAATAATACATGGGG -3'
(R):5'- TTGTGCTAAGACGCCCTTC -3'
Sequencing Primer
(F):5'- GACAAAGTCCTTTTATGTGATGGCAG -3'
(R):5'- CCCCCAGACCTCAGGCTTTG -3'
|
Posted On |
2016-07-06 |