Incidental Mutation 'IGL00792:Zfp568'
| ID |
14980 |
| 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 # |
IGL00792
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
29683380-29727707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29714497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 124
(R124G)
|
| 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: R125G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073930
Gene: ENSMUSG00000074221
AA Change: R125G
| 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: R124G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118823
Gene: ENSMUSG00000074221
AA Change: R124G
| 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: R125G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118387
Gene: ENSMUSG00000074221
AA Change: R125G
| 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: R124G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137438
Gene: ENSMUSG00000074221
AA Change: R124G
| 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
AA Change: R125G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,228,790 (GRCm39) |
I346V |
probably benign |
Het |
| Actl7a |
A |
T |
4: 56,743,944 (GRCm39) |
Y157F |
possibly damaging |
Het |
| Adcy9 |
A |
G |
16: 4,106,403 (GRCm39) |
F904L |
probably damaging |
Het |
| Ap1m1 |
A |
G |
8: 73,009,599 (GRCm39) |
D369G |
possibly damaging |
Het |
| Atp23 |
A |
T |
10: 126,736,969 (GRCm39) |
|
probably null |
Het |
| Atp5pd |
A |
G |
11: 115,308,675 (GRCm39) |
|
probably null |
Het |
| Btf3l4 |
G |
A |
4: 108,674,056 (GRCm39) |
S153L |
probably benign |
Het |
| Carf |
G |
T |
1: 60,165,168 (GRCm39) |
V117L |
possibly damaging |
Het |
| Cntnap1 |
C |
A |
11: 101,069,792 (GRCm39) |
N290K |
probably benign |
Het |
| Dgkb |
G |
A |
12: 38,264,388 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
A |
7: 130,699,337 (GRCm39) |
C989S |
possibly damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,366,939 (GRCm39) |
R591C |
probably damaging |
Het |
| Fam219a |
A |
G |
4: 41,521,684 (GRCm39) |
V74A |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,678,944 (GRCm39) |
|
probably null |
Het |
| Gm13547 |
A |
T |
2: 29,653,417 (GRCm39) |
D85V |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,685,476 (GRCm39) |
S46R |
possibly damaging |
Het |
| Ifih1 |
T |
A |
2: 62,476,214 (GRCm39) |
R21W |
probably damaging |
Het |
| Ift43 |
A |
T |
12: 86,186,840 (GRCm39) |
Q87L |
probably null |
Het |
| Itprid2 |
C |
T |
2: 79,487,807 (GRCm39) |
A630V |
probably benign |
Het |
| Kcnn1 |
G |
A |
8: 71,307,360 (GRCm39) |
L178F |
probably benign |
Het |
| Kel |
G |
T |
6: 41,678,946 (GRCm39) |
N172K |
probably damaging |
Het |
| Krtap3-2 |
A |
T |
11: 99,447,372 (GRCm39) |
Y85* |
probably null |
Het |
| Lrrc49 |
A |
G |
9: 60,595,121 (GRCm39) |
S8P |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,752,902 (GRCm39) |
I20T |
possibly damaging |
Het |
| Pde4d |
A |
G |
13: 110,071,929 (GRCm39) |
K364E |
possibly damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,088,500 (GRCm39) |
K608E |
possibly damaging |
Het |
| Robo4 |
C |
T |
9: 37,319,507 (GRCm39) |
L586F |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,692,416 (GRCm39) |
S191P |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,962,468 (GRCm39) |
H242Q |
probably damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,499,452 (GRCm39) |
N283K |
probably damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,672,649 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
G |
T |
1: 74,650,276 (GRCm39) |
L269F |
probably benign |
Het |
| Thop1 |
T |
A |
10: 80,914,433 (GRCm39) |
L240* |
probably null |
Het |
| Tmem52b |
T |
A |
6: 129,493,704 (GRCm39) |
S106T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,555,970 (GRCm39) |
D30345V |
probably damaging |
Het |
| Vtcn1 |
T |
C |
3: 100,795,663 (GRCm39) |
V210A |
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 |
|
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 |
2012-12-06 |
Incidental Mutation