Incidental Mutation 'R0739:Zfp568'
ID |
70620 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp568
|
Ensembl Gene |
ENSMUSG00000074221 |
Gene Name |
zinc finger protein 568 |
Synonyms |
chato, LOC381866 |
MMRRC Submission |
038920-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0739 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
29683380-29727707 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29722746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 564
(C564S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074322]
[ENSMUST00000146074]
[ENSMUST00000148442]
[ENSMUST00000177931]
|
AlphaFold |
E9PYI1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074322
AA Change: C564S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073930 Gene: ENSMUSG00000074221 AA Change: C564S
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: C563S
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000118823 Gene: ENSMUSG00000074221 AA Change: C563S
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 damaging
Transcript: ENSMUST00000148442
AA Change: C564S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118387 Gene: ENSMUSG00000074221 AA Change: C564S
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: C563S
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000137438 Gene: ENSMUSG00000074221 AA Change: C563S
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 |
|
Meta Mutation Damage Score |
0.4498 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
Validation Efficiency |
98% (48/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,227,961 (GRCm39) |
E327G |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,496,260 (GRCm39) |
D593G |
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,816,370 (GRCm39) |
D248G |
probably damaging |
Het |
Atp2a1 |
T |
C |
7: 126,047,428 (GRCm39) |
I743V |
possibly damaging |
Het |
Axdnd1 |
T |
C |
1: 156,208,456 (GRCm39) |
N396D |
possibly damaging |
Het |
Cacna1e |
C |
T |
1: 154,318,024 (GRCm39) |
A1391T |
probably damaging |
Het |
Ccr8 |
G |
A |
9: 119,923,415 (GRCm39) |
G177S |
probably damaging |
Het |
Clmn |
C |
T |
12: 104,747,276 (GRCm39) |
G757D |
possibly damaging |
Het |
Cntn2 |
T |
A |
1: 132,456,750 (GRCm39) |
I99F |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,650 (GRCm39) |
A271G |
unknown |
Het |
Dnah1 |
A |
T |
14: 30,987,872 (GRCm39) |
C3515* |
probably null |
Het |
Eif2d |
A |
G |
1: 131,082,100 (GRCm39) |
Y64C |
probably damaging |
Het |
Elovl4 |
A |
G |
9: 83,667,162 (GRCm39) |
F65S |
probably damaging |
Het |
F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,209,550 (GRCm39) |
E938G |
probably benign |
Het |
Foxn1 |
T |
C |
11: 78,249,825 (GRCm39) |
T567A |
probably benign |
Het |
Gabrr1 |
T |
C |
4: 33,162,781 (GRCm39) |
M449T |
probably benign |
Het |
Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
Itgb3bp |
T |
C |
4: 99,690,433 (GRCm39) |
I29V |
probably benign |
Het |
Kcnk7 |
C |
T |
19: 5,754,830 (GRCm39) |
|
probably null |
Het |
Klf11 |
T |
C |
12: 24,710,247 (GRCm39) |
S432P |
probably damaging |
Het |
Neo1 |
C |
T |
9: 58,829,160 (GRCm39) |
A580T |
probably benign |
Het |
Nexmif |
G |
T |
X: 103,128,555 (GRCm39) |
Q1121K |
probably benign |
Het |
Or51aa5 |
T |
C |
7: 103,166,931 (GRCm39) |
Y220C |
probably damaging |
Het |
Or51f5 |
T |
C |
7: 102,423,872 (GRCm39) |
I47T |
probably damaging |
Het |
Or5p62 |
T |
C |
7: 107,771,217 (GRCm39) |
T245A |
probably benign |
Het |
Osgepl1 |
G |
T |
1: 53,362,354 (GRCm39) |
E399* |
probably null |
Het |
Parvg |
T |
A |
15: 84,215,222 (GRCm39) |
V197E |
probably damaging |
Het |
Pcyt2 |
A |
G |
11: 120,502,870 (GRCm39) |
L257P |
probably damaging |
Het |
Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
Psmd2 |
C |
T |
16: 20,474,079 (GRCm39) |
R261C |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,722,998 (GRCm39) |
F1981L |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,680,604 (GRCm39) |
I1069F |
probably benign |
Het |
Rhbdf2 |
A |
T |
11: 116,490,987 (GRCm39) |
L655Q |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,331,063 (GRCm39) |
N317K |
possibly damaging |
Het |
Serpina3f |
T |
C |
12: 104,184,612 (GRCm39) |
V252A |
probably damaging |
Het |
Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
Smyd2 |
T |
C |
1: 189,621,059 (GRCm39) |
T220A |
possibly damaging |
Het |
Snrpb2 |
T |
A |
2: 142,907,281 (GRCm39) |
|
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
Sptan1 |
A |
T |
2: 29,903,530 (GRCm39) |
I1502F |
probably damaging |
Het |
Srprb |
A |
T |
9: 103,074,794 (GRCm39) |
L116H |
probably damaging |
Het |
Stradb |
T |
A |
1: 59,016,174 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
C |
A |
2: 153,045,734 (GRCm39) |
F535L |
probably damaging |
Het |
Tmprss15 |
A |
T |
16: 78,821,736 (GRCm39) |
S440T |
possibly damaging |
Het |
Tpr |
C |
T |
1: 150,283,248 (GRCm39) |
A293V |
possibly damaging |
Het |
Usp34 |
C |
T |
11: 23,417,243 (GRCm39) |
T2964I |
possibly damaging |
Het |
Usp35 |
C |
A |
7: 96,960,874 (GRCm39) |
E851* |
probably null |
Het |
Zc3h14 |
T |
A |
12: 98,723,460 (GRCm39) |
V250D |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGCTTTGAGTGTAAGGACTGTGAC -3'
(R):5'- GATGGCAACTCATTCACTCCTCCG -3'
Sequencing Primer
(F):5'- caagtgtaaggagtgtgggaaag -3'
(R):5'- TTGGGTAAGGTGAGAGCCAC -3'
|
Posted On |
2013-09-30 |