Incidental Mutation 'R6444:Zfp568'
| ID |
519127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp568
|
| Ensembl Gene |
ENSMUSG00000074221 |
| Gene Name |
zinc finger protein 568 |
| Synonyms |
chato, LOC381866 |
| MMRRC Submission |
044582-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29683380-29727707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29716682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 193
(H193L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074322]
[ENSMUST00000146074]
[ENSMUST00000148442]
[ENSMUST00000177931]
[ENSMUST00000207940]
|
| AlphaFold |
E9PYI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074322
AA Change: H194L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073930
Gene: ENSMUSG00000074221
AA Change: H194L
| 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: H193L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000118823
Gene: ENSMUSG00000074221
AA Change: H193L
| 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: H194L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118387
Gene: ENSMUSG00000074221
AA Change: H194L
| 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: H193L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000137438
Gene: ENSMUSG00000074221
AA Change: H193L
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACAGAGCAGTGCCTACCAG |
ACAG |
5: 138,637,831 (GRCm39) |
|
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,079,362 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,317,956 (GRCm39) |
I233N |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,150,785 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,335,260 (GRCm39) |
D246G |
probably benign |
Het |
| Cped1 |
A |
C |
6: 21,986,930 (GRCm39) |
I41L |
probably benign |
Het |
| Dcdc2c |
A |
G |
12: 28,585,475 (GRCm39) |
V174A |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,420,844 (GRCm39) |
R1681C |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,167,822 (GRCm39) |
V1755M |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,075,292 (GRCm39) |
D590N |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,338,077 (GRCm39) |
M1V |
probably null |
Het |
| Galnt15 |
T |
C |
14: 31,762,368 (GRCm39) |
F199L |
probably damaging |
Het |
| Gm8229 |
A |
T |
14: 44,602,928 (GRCm39) |
H38L |
unknown |
Het |
| Magel2 |
T |
C |
7: 62,029,747 (GRCm39) |
Y884H |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,989,468 (GRCm39) |
V473E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 47,671,562 (GRCm39) |
V62I |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,755,917 (GRCm39) |
P211S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,786,134 (GRCm39) |
H254R |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,453,017 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,794 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or8g20 |
T |
C |
9: 39,395,614 (GRCm39) |
T309A |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,377,280 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,195,730 (GRCm39) |
D879G |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,785,166 (GRCm39) |
Q414R |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,197,317 (GRCm39) |
I813T |
probably damaging |
Het |
| Smok2a |
G |
T |
17: 13,444,500 (GRCm39) |
A26S |
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,110,550 (GRCm39) |
L459Q |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,142 (GRCm39) |
V609A |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,365 (GRCm39) |
A42E |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,470 (GRCm39) |
V682A |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,488 (GRCm39) |
K321E |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,133,891 (GRCm39) |
M1098R |
possibly damaging |
Het |
| Ydjc |
C |
A |
16: 16,965,545 (GRCm39) |
H136Q |
probably damaging |
Het |
| Znhit1 |
A |
G |
5: 137,011,254 (GRCm39) |
V153A |
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 |
|
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 |
|
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'- TGGCAGTAGGTAATGACTTGAACC -3'
(R):5'- GCAGACGCTGTGACAGAATTC -3'
Sequencing Primer
(F):5'- GGTAATGACTTGAACCATAGCCTGC -3'
(R):5'- CAGAATTCTGGTGAGAGAGTGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation