Incidental Mutation 'IGL00573:Zfp568'
| ID |
5281 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp568
|
| Ensembl Gene |
ENSMUSG00000074221 |
| Gene Name |
zinc finger protein 568 |
| Synonyms |
chato, LOC381866 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00573
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
29683380-29727707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29721865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 269
(H269L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074322]
[ENSMUST00000146074]
[ENSMUST00000148442]
[ENSMUST00000177931]
|
| AlphaFold |
E9PYI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074322
AA Change: H270L
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000073930
Gene: ENSMUSG00000074221
AA Change: H270L
| 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 |
possibly damaging
Transcript: ENSMUST00000146074
AA Change: H269L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118823
Gene: ENSMUSG00000074221
AA Change: H269L
| 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: H270L
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118387
Gene: ENSMUSG00000074221
AA Change: H270L
| 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 |
possibly damaging
Transcript: ENSMUST00000177931
AA Change: H269L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137438
Gene: ENSMUSG00000074221
AA Change: H269L
| 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 |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,877,704 (GRCm39) |
D687G |
probably benign |
Het |
| Cd69 |
C |
A |
6: 129,245,283 (GRCm39) |
V140F |
probably damaging |
Het |
| Cep290 |
C |
T |
10: 100,376,223 (GRCm39) |
P1437L |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,086,860 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,900,095 (GRCm39) |
Y1676F |
probably benign |
Het |
| Ctnna2 |
A |
C |
6: 76,879,264 (GRCm39) |
|
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,161 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
A |
T |
15: 85,111,238 (GRCm39) |
M131L |
probably benign |
Het |
| Flcn |
A |
G |
11: 59,686,649 (GRCm39) |
V368A |
probably damaging |
Het |
| Marveld2 |
A |
T |
13: 100,734,367 (GRCm39) |
|
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,674,732 (GRCm39) |
Y400C |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,666,619 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
T |
A |
9: 72,593,338 (GRCm39) |
|
probably null |
Het |
| Nlrp3 |
C |
T |
11: 59,455,942 (GRCm39) |
H913Y |
possibly damaging |
Het |
| Pkd1 |
G |
T |
17: 24,813,504 (GRCm39) |
E4015* |
probably null |
Het |
| Plscr1 |
C |
T |
9: 92,146,732 (GRCm39) |
L125F |
probably benign |
Het |
| Trim30c |
T |
A |
7: 104,031,838 (GRCm39) |
I326L |
possibly damaging |
Het |
| Tsga10 |
T |
C |
1: 37,846,151 (GRCm39) |
D325G |
probably damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,009,182 (GRCm39) |
Y158C |
probably damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,745,389 (GRCm39) |
P215S |
probably benign |
Het |
| Zmynd11 |
T |
G |
13: 9,739,262 (GRCm39) |
E510A |
probably damaging |
Het |
|
| Other mutations in Zfp568 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation