Incidental Mutation 'IGL01330:Zfp568'
| ID |
74467 |
| 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 # |
IGL01330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
29683380-29727707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29721702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 215
(M215V)
|
| 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: M216V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000073930
Gene: ENSMUSG00000074221
AA Change: M216V
| 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: M215V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118823
Gene: ENSMUSG00000074221
AA Change: M215V
| 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: M216V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000118387
Gene: ENSMUSG00000074221
AA Change: M216V
| 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: M215V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000137438
Gene: ENSMUSG00000074221
AA Change: M215V
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
G |
19: 31,898,351 (GRCm39) |
E245G |
possibly damaging |
Het |
| Acap2 |
T |
C |
16: 30,973,495 (GRCm39) |
I43V |
probably damaging |
Het |
| Acot11 |
T |
C |
4: 106,628,681 (GRCm39) |
T36A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,112 (GRCm39) |
|
probably benign |
Het |
| Capza2 |
T |
C |
6: 17,654,170 (GRCm39) |
|
probably null |
Het |
| Cerkl |
A |
G |
2: 79,199,125 (GRCm39) |
I155T |
possibly damaging |
Het |
| Dclre1b |
T |
C |
3: 103,710,442 (GRCm39) |
T490A |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,928,501 (GRCm39) |
S31L |
probably benign |
Het |
| Faim |
T |
A |
9: 98,874,588 (GRCm39) |
M67K |
probably damaging |
Het |
| Frem2 |
T |
G |
3: 53,562,662 (GRCm39) |
Q615P |
possibly damaging |
Het |
| Fut9 |
A |
G |
4: 25,619,791 (GRCm39) |
V341A |
possibly damaging |
Het |
| Grhpr |
T |
C |
4: 44,986,375 (GRCm39) |
F142L |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,404,112 (GRCm39) |
V532A |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,627,867 (GRCm39) |
L55* |
probably null |
Het |
| Kmt2e |
C |
A |
5: 23,702,946 (GRCm39) |
P1042Q |
possibly damaging |
Het |
| Mpped1 |
T |
A |
15: 83,684,320 (GRCm39) |
I114N |
probably damaging |
Het |
| Mtap |
C |
A |
4: 89,089,460 (GRCm39) |
T148K |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,419,803 (GRCm39) |
A8347V |
possibly damaging |
Het |
| Nhs |
A |
T |
X: 160,624,449 (GRCm39) |
S967T |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,095,602 (GRCm39) |
Y344C |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,629,349 (GRCm39) |
|
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,404 (GRCm39) |
V158A |
possibly damaging |
Het |
| Or8b12c |
T |
A |
9: 37,715,516 (GRCm39) |
F103Y |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,871,509 (GRCm39) |
Y303H |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,490,631 (GRCm39) |
I770F |
probably benign |
Het |
| Pde4a |
C |
T |
9: 21,103,734 (GRCm39) |
|
probably benign |
Het |
| Prkacb |
T |
G |
3: 146,457,266 (GRCm39) |
N79T |
probably damaging |
Het |
| Psd3 |
A |
C |
8: 68,149,830 (GRCm39) |
Y1222D |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,810,538 (GRCm39) |
E847D |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,530,042 (GRCm39) |
D912E |
probably damaging |
Het |
| Sgsm3 |
T |
A |
15: 80,895,053 (GRCm39) |
|
probably benign |
Het |
| Shcbp1 |
T |
C |
8: 4,786,372 (GRCm39) |
T577A |
probably benign |
Het |
| Siglec1 |
A |
T |
2: 130,925,456 (GRCm39) |
V335D |
probably damaging |
Het |
| Siglec1 |
A |
T |
2: 130,916,925 (GRCm39) |
L1110* |
probably null |
Het |
| Slc4a11 |
A |
G |
2: 130,529,602 (GRCm39) |
I335T |
probably benign |
Het |
| Smchd1 |
A |
C |
17: 71,743,783 (GRCm39) |
S461A |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,968,864 (GRCm39) |
P415S |
probably damaging |
Het |
| Tdrd12 |
G |
A |
7: 35,204,459 (GRCm39) |
S217L |
possibly damaging |
Het |
| Tmem156 |
C |
T |
5: 65,237,525 (GRCm39) |
R45H |
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,542 (GRCm39) |
S569P |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,871,390 (GRCm39) |
V3220E |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,208,565 (GRCm39) |
N439S |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,377,656 (GRCm39) |
V967E |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,956,483 (GRCm39) |
D255G |
possibly 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 |
|
|
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 |
2013-10-07 |
Incidental Mutation