Incidental Mutation 'R8319:Zfp568'
ID |
641855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp568
|
Ensembl Gene |
ENSMUSG00000074221 |
Gene Name |
zinc finger protein 568 |
Synonyms |
chato, LOC381866 |
MMRRC Submission |
067856-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8319 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
29683380-29727707 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29697629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 104
(S104P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074322]
[ENSMUST00000146074]
[ENSMUST00000148442]
[ENSMUST00000177931]
[ENSMUST00000207940]
|
AlphaFold |
E9PYI1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074322
AA Change: S104P
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000073930 Gene: ENSMUSG00000074221 AA Change: S104P
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: S104P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118823 Gene: ENSMUSG00000074221 AA Change: S104P
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 |
possibly damaging
Transcript: ENSMUST00000148442
AA Change: S104P
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000118387 Gene: ENSMUSG00000074221 AA Change: S104P
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: S104P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000137438 Gene: ENSMUSG00000074221 AA Change: S104P
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 |
possibly damaging
Transcript: ENSMUST00000207940
AA Change: S104P
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
A |
T |
13: 59,838,486 (GRCm39) |
D115E |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,214,315 (GRCm39) |
L197Q |
probably damaging |
Het |
Adamts14 |
T |
G |
10: 61,057,706 (GRCm39) |
N547T |
probably benign |
Het |
Ampd3 |
T |
A |
7: 110,394,982 (GRCm39) |
S301R |
probably benign |
Het |
Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
Atl1 |
A |
T |
12: 70,002,093 (GRCm39) |
T351S |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Cacna1c |
T |
C |
6: 118,614,735 (GRCm39) |
I1315V |
|
Het |
Col12a1 |
C |
T |
9: 79,555,979 (GRCm39) |
G2013R |
probably damaging |
Het |
Cpne2 |
A |
G |
8: 95,280,040 (GRCm39) |
D153G |
probably benign |
Het |
Cryzl1 |
T |
C |
16: 91,489,251 (GRCm39) |
S205G |
probably benign |
Het |
Cux1 |
C |
T |
5: 136,594,251 (GRCm39) |
A5T |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,395,669 (GRCm39) |
|
probably null |
Het |
Dnajc13 |
G |
A |
9: 104,067,590 (GRCm39) |
P1190S |
probably benign |
Het |
Fbxw7 |
T |
A |
3: 84,881,859 (GRCm39) |
V526E |
|
Het |
Fig4 |
C |
A |
10: 41,139,097 (GRCm39) |
G369C |
probably damaging |
Het |
Gabra1 |
C |
T |
11: 42,026,315 (GRCm39) |
A326T |
probably damaging |
Het |
Gbe1 |
G |
A |
16: 70,284,964 (GRCm39) |
G429S |
probably benign |
Het |
Gtf3c5 |
A |
T |
2: 28,460,506 (GRCm39) |
H364Q |
probably benign |
Het |
Hcfc2 |
T |
A |
10: 82,574,201 (GRCm39) |
I125N |
probably damaging |
Het |
Hnrnpul1 |
A |
T |
7: 25,453,902 (GRCm39) |
D53E |
probably benign |
Het |
Ift56 |
T |
A |
6: 38,382,880 (GRCm39) |
H338Q |
probably damaging |
Het |
Il18 |
A |
T |
9: 50,492,818 (GRCm39) |
D128V |
possibly damaging |
Het |
Intu |
T |
A |
3: 40,608,202 (GRCm39) |
S71R |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,775,940 (GRCm39) |
E206G |
possibly damaging |
Het |
Lcor |
T |
A |
19: 41,571,343 (GRCm39) |
S179T |
probably damaging |
Het |
Mcub |
A |
G |
3: 129,727,328 (GRCm39) |
F93L |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 67,267,803 (GRCm39) |
Y5C |
unknown |
Het |
Naip1 |
C |
A |
13: 100,565,721 (GRCm39) |
V354L |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,358,167 (GRCm39) |
V1023A |
probably benign |
Het |
Ndufaf1 |
A |
G |
2: 119,490,568 (GRCm39) |
L166P |
probably damaging |
Het |
Ninl |
A |
T |
2: 150,801,827 (GRCm39) |
L147H |
probably damaging |
Het |
Or4c12 |
A |
G |
2: 89,774,024 (GRCm39) |
V145A |
possibly damaging |
Het |
Or51b17 |
A |
G |
7: 103,542,636 (GRCm39) |
I102T |
probably damaging |
Het |
Otogl |
C |
T |
10: 107,689,127 (GRCm39) |
|
probably null |
Het |
Otulin |
AT |
ATT |
15: 27,606,404 (GRCm39) |
|
probably null |
Het |
Phf11b |
A |
C |
14: 59,576,146 (GRCm39) |
L30R |
probably damaging |
Het |
Prdm13 |
G |
T |
4: 21,679,327 (GRCm39) |
H388N |
unknown |
Het |
Pwwp2b |
T |
C |
7: 138,835,099 (GRCm39) |
V180A |
probably damaging |
Het |
Reep4 |
T |
A |
14: 70,783,951 (GRCm39) |
S23T |
probably damaging |
Het |
Rusc2 |
T |
A |
4: 43,425,378 (GRCm39) |
L1161Q |
probably damaging |
Het |
Scgb1b3 |
G |
A |
7: 31,075,404 (GRCm39) |
|
probably null |
Het |
Scn10a |
G |
T |
9: 119,499,455 (GRCm39) |
N279K |
probably benign |
Het |
Smurf2 |
A |
G |
11: 106,715,578 (GRCm39) |
L643S |
probably damaging |
Het |
Sox12 |
G |
A |
2: 152,239,192 (GRCm39) |
P143S |
unknown |
Het |
Specc1 |
C |
T |
11: 62,009,501 (GRCm39) |
T339I |
possibly damaging |
Het |
Tas2r139 |
T |
C |
6: 42,118,720 (GRCm39) |
V284A |
probably benign |
Het |
Thumpd3 |
T |
A |
6: 113,040,107 (GRCm39) |
C330* |
probably null |
Het |
Ttn |
A |
G |
2: 76,537,298 (GRCm39) |
S34877P |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,912,910 (GRCm39) |
H50Y |
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 |
|
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 |
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'- TGTGTCACTGTGTCAGTTCC -3'
(R):5'- CCAATAGGGCAGAGACATTCC -3'
Sequencing Primer
(F):5'- GTGTCACTGTGTCAGTTCCTTGATTC -3'
(R):5'- TAGGGCAGAGACATTCCTAGAATAG -3'
|
Posted On |
2020-07-28 |