Incidental Mutation 'IGL01133:Zfp568'
ID |
51626 |
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 # |
IGL01133
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
29683380-29727707 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 29687233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147124
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074322]
[ENSMUST00000146074]
[ENSMUST00000148442]
[ENSMUST00000177931]
[ENSMUST00000207940]
|
AlphaFold |
E9PYI1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000074322
|
SMART Domains |
Protein: ENSMUSP00000073930 Gene: ENSMUSG00000074221
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
|
SMART Domains |
Protein: ENSMUSP00000118823 Gene: ENSMUSG00000074221
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
|
SMART Domains |
Protein: ENSMUSP00000118387 Gene: ENSMUSG00000074221
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
|
SMART Domains |
Protein: ENSMUSP00000137438 Gene: ENSMUSG00000074221
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: ENSMUST00000207940
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209185
|
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 |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adam4 |
T |
C |
12: 81,468,220 (GRCm39) |
T134A |
possibly damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Cartpt |
T |
G |
13: 100,036,548 (GRCm39) |
I67L |
probably benign |
Het |
Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
Ccer1 |
T |
C |
10: 97,530,401 (GRCm39) |
F355L |
probably benign |
Het |
Cert1 |
A |
G |
13: 96,751,310 (GRCm39) |
E320G |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cfap299 |
T |
C |
5: 98,646,240 (GRCm39) |
|
probably null |
Het |
Cfap36 |
A |
C |
11: 29,184,414 (GRCm39) |
V114G |
probably damaging |
Het |
Cyp2b9 |
G |
A |
7: 25,909,660 (GRCm39) |
G476D |
probably damaging |
Het |
Eif3l |
T |
C |
15: 78,961,120 (GRCm39) |
Y58H |
possibly damaging |
Het |
Gapvd1 |
T |
C |
2: 34,615,410 (GRCm39) |
Y411C |
probably damaging |
Het |
Gm27029 |
G |
T |
11: 101,302,786 (GRCm39) |
F236L |
possibly damaging |
Het |
Golga1 |
T |
C |
2: 38,913,484 (GRCm39) |
T501A |
probably benign |
Het |
Heg1 |
C |
T |
16: 33,547,657 (GRCm39) |
H815Y |
probably benign |
Het |
Krt1 |
A |
T |
15: 101,756,628 (GRCm39) |
D298E |
probably damaging |
Het |
Mecr |
T |
A |
4: 131,570,907 (GRCm39) |
S32T |
probably benign |
Het |
Med1 |
A |
T |
11: 98,048,812 (GRCm39) |
Y661* |
probably null |
Het |
Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
Pla2g12b |
G |
T |
10: 59,252,239 (GRCm39) |
A37S |
probably benign |
Het |
Plekha7 |
G |
T |
7: 115,744,476 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
T |
C |
12: 55,689,133 (GRCm39) |
I1989V |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,689,144 (GRCm39) |
H1938R |
probably damaging |
Het |
Sanbr |
A |
T |
11: 23,545,434 (GRCm39) |
D486E |
probably damaging |
Het |
Sec31b |
A |
G |
19: 44,515,480 (GRCm39) |
F309S |
probably damaging |
Het |
Serpina3a |
T |
C |
12: 104,087,758 (GRCm39) |
I227T |
probably benign |
Het |
Slc1a3 |
A |
G |
15: 8,675,171 (GRCm39) |
I278T |
probably damaging |
Het |
Slc1a3 |
T |
C |
15: 8,680,477 (GRCm39) |
Y127C |
probably damaging |
Het |
Spen |
T |
C |
4: 141,217,212 (GRCm39) |
K449R |
unknown |
Het |
Thoc2l |
A |
G |
5: 104,665,528 (GRCm39) |
T17A |
probably benign |
Het |
Tmem130 |
A |
G |
5: 144,689,255 (GRCm39) |
S129P |
probably damaging |
Het |
Trim68 |
A |
T |
7: 102,328,348 (GRCm39) |
|
probably null |
Het |
Vdac3-ps1 |
T |
C |
13: 18,206,034 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r75 |
A |
G |
7: 85,797,240 (GRCm39) |
|
probably benign |
Het |
Zbtb9 |
G |
T |
17: 27,193,985 (GRCm39) |
|
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 |
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 |
2013-06-21 |