Incidental Mutation 'R1051:Zfp568'
| ID |
93949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp568
|
| Ensembl Gene |
ENSMUSG00000074221 |
| Gene Name |
zinc finger protein 568 |
| Synonyms |
chato, LOC381866 |
| MMRRC Submission |
039141-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1051 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
29683380-29727707 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 29721954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 299
(Q299*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074322]
[ENSMUST00000146074]
[ENSMUST00000148442]
[ENSMUST00000177931]
|
| AlphaFold |
E9PYI1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074322
AA Change: Q300*
|
| SMART Domains |
Protein: ENSMUSP00000073930
Gene: ENSMUSG00000074221
AA Change: Q300*
| 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 null
Transcript: ENSMUST00000146074
AA Change: Q299*
|
| SMART Domains |
Protein: ENSMUSP00000118823
Gene: ENSMUSG00000074221
AA Change: Q299*
| 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 null
Transcript: ENSMUST00000148442
AA Change: Q300*
|
| SMART Domains |
Protein: ENSMUSP00000118387
Gene: ENSMUSG00000074221
AA Change: Q300*
| 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 null
Transcript: ENSMUST00000177931
AA Change: Q299*
|
| SMART Domains |
Protein: ENSMUSP00000137438
Gene: ENSMUSG00000074221
AA Change: Q299*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
G |
5: 121,764,143 (GRCm39) |
S929P |
probably damaging |
Het |
| Acot1 |
T |
C |
12: 84,056,378 (GRCm39) |
V32A |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,583,956 (GRCm39) |
G353D |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,222,943 (GRCm39) |
H97L |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,640,790 (GRCm39) |
P615T |
probably benign |
Het |
| Chrng |
A |
T |
1: 87,136,785 (GRCm39) |
D218V |
possibly damaging |
Het |
| Col5a3 |
C |
A |
9: 20,686,531 (GRCm39) |
V1365L |
unknown |
Het |
| Ddx49 |
A |
G |
8: 70,747,335 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,569 (GRCm39) |
D164G |
probably damaging |
Het |
| Eefsec |
A |
T |
6: 88,274,829 (GRCm39) |
D378E |
probably benign |
Het |
| Farsb |
T |
C |
1: 78,420,287 (GRCm39) |
I535V |
possibly damaging |
Het |
| Fat1 |
T |
G |
8: 45,497,543 (GRCm39) |
S4343A |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,145,425 (GRCm39) |
Y2737C |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,306,821 (GRCm39) |
E10G |
probably damaging |
Het |
| Has1 |
T |
C |
17: 18,068,541 (GRCm39) |
D271G |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Il12rb2 |
A |
G |
6: 67,333,719 (GRCm39) |
F187L |
probably benign |
Het |
| Kdsr |
G |
A |
1: 106,675,310 (GRCm39) |
Q109* |
probably null |
Het |
| Klb |
G |
A |
5: 65,536,670 (GRCm39) |
A667T |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,390,332 (GRCm39) |
R704C |
possibly damaging |
Het |
| Lenep |
A |
T |
3: 89,309,780 (GRCm39) |
I56N |
possibly damaging |
Het |
| Lipc |
T |
C |
9: 70,709,398 (GRCm39) |
I450V |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,186,984 (GRCm39) |
N1329S |
probably benign |
Het |
| Myo5c |
T |
A |
9: 75,198,165 (GRCm39) |
M1330K |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,808,466 (GRCm39) |
E1691G |
probably damaging |
Het |
| Ninl |
C |
G |
2: 150,812,046 (GRCm39) |
E240Q |
probably damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,966,869 (GRCm39) |
S195G |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,068,942 (GRCm39) |
E281G |
probably benign |
Het |
| Olfm2 |
T |
C |
9: 20,579,759 (GRCm39) |
T331A |
probably damaging |
Het |
| Or1o1 |
A |
T |
17: 37,717,341 (GRCm39) |
I301F |
possibly damaging |
Het |
| Or2d2 |
T |
A |
7: 106,728,123 (GRCm39) |
D159V |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,657 (GRCm39) |
I181T |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,829,255 (GRCm39) |
|
probably null |
Het |
| Pramel4 |
A |
G |
4: 143,795,068 (GRCm39) |
E485G |
possibly damaging |
Het |
| Prss12 |
A |
G |
3: 123,279,174 (GRCm39) |
D417G |
probably null |
Het |
| Rhpn1 |
A |
T |
15: 75,584,241 (GRCm39) |
Y456F |
probably damaging |
Het |
| Rnpc3 |
C |
T |
3: 113,423,595 (GRCm39) |
E37K |
possibly damaging |
Het |
| Rp1l1 |
T |
G |
14: 64,269,984 (GRCm39) |
L1857V |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sepsecs |
C |
T |
5: 52,822,698 (GRCm39) |
A18T |
probably damaging |
Het |
| Sgms1 |
T |
A |
19: 32,137,439 (GRCm39) |
L42F |
probably damaging |
Het |
| Sipa1l1 |
A |
T |
12: 82,496,119 (GRCm39) |
D1720V |
possibly damaging |
Het |
| Slc13a3 |
A |
T |
2: 165,250,740 (GRCm39) |
|
probably null |
Het |
| Slc25a40 |
A |
T |
5: 8,480,450 (GRCm39) |
M67L |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Spesp1 |
T |
C |
9: 62,179,924 (GRCm39) |
D328G |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,468,389 (GRCm39) |
C4363* |
probably null |
Het |
| Tbc1d8 |
C |
T |
1: 39,420,534 (GRCm39) |
W666* |
probably null |
Het |
| Tubgcp2 |
T |
C |
7: 139,578,809 (GRCm39) |
D721G |
probably benign |
Het |
| Vps54 |
CTTAAT |
CT |
11: 21,228,001 (GRCm39) |
|
probably null |
Het |
| Wsb1 |
T |
C |
11: 79,137,059 (GRCm39) |
S113G |
probably damaging |
Het |
| Zfp382 |
T |
C |
7: 29,833,435 (GRCm39) |
F362S |
probably damaging |
Het |
| Zfp553 |
G |
T |
7: 126,835,977 (GRCm39) |
G511* |
probably null |
Het |
| Zfp688 |
G |
A |
7: 127,018,397 (GRCm39) |
P243S |
probably damaging |
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 |
|
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 |
|
R5250:Zfp568
|
UTSW |
7 |
29,716,655 (GRCm39) |
missense |
probably benign |
0.12 |
|
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'- CACTCTTGAGGACAGCAAGACCAG -3'
(R):5'- CCACATGCAGCTTTTGATGGTGAC -3'
Sequencing Primer
(F):5'- CGTGAGCTGGAGGGTCAAC -3'
(R):5'- GCATTCCTTACACTTATGTGGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation