Incidental Mutation 'R5541:Zfp568'
ID |
435960 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp568
|
Ensembl Gene |
ENSMUSG00000074221 |
Gene Name |
zinc finger protein 568 |
Synonyms |
chato, LOC381866 |
MMRRC Submission |
043099-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5541 (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 29722301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 414
(D414E)
|
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: D415E
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000073930 Gene: ENSMUSG00000074221 AA Change: D415E
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: D414E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118823 Gene: ENSMUSG00000074221 AA Change: D414E
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: D415E
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000118387 Gene: ENSMUSG00000074221 AA Change: D415E
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: D414E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000137438 Gene: ENSMUSG00000074221 AA Change: D414E
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 |
0.1368 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (63/63) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 87,061,808 (GRCm39) |
K86R |
probably benign |
Het |
Abca13 |
T |
C |
11: 9,241,545 (GRCm39) |
V1136A |
probably benign |
Het |
Arfgap2 |
G |
A |
2: 91,106,114 (GRCm39) |
R530H |
probably benign |
Het |
Arhgap30 |
T |
C |
1: 171,231,707 (GRCm39) |
|
probably null |
Het |
Asb7 |
T |
C |
7: 66,329,017 (GRCm39) |
R8G |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,949,276 (GRCm39) |
N2949D |
probably benign |
Het |
Ccdc86 |
T |
C |
19: 10,925,918 (GRCm39) |
E227G |
probably damaging |
Het |
Cercam |
A |
G |
2: 29,765,641 (GRCm39) |
D261G |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,778,132 (GRCm39) |
E2714D |
probably benign |
Het |
Dcp1a |
T |
A |
14: 30,224,796 (GRCm39) |
S126R |
probably damaging |
Het |
Defa17 |
T |
A |
8: 22,146,565 (GRCm39) |
C64S |
probably damaging |
Het |
Depdc5 |
A |
T |
5: 33,021,973 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,076,908 (GRCm39) |
N259S |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,169,971 (GRCm39) |
L323Q |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 66,036,162 (GRCm39) |
Y416C |
probably damaging |
Het |
Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
Fbxw15 |
T |
G |
9: 109,394,498 (GRCm39) |
I106L |
probably benign |
Het |
Flacc1 |
A |
G |
1: 58,697,588 (GRCm39) |
M384T |
probably benign |
Het |
Gm10610 |
A |
G |
7: 83,198,614 (GRCm39) |
|
noncoding transcript |
Het |
Gpr22 |
A |
G |
12: 31,759,348 (GRCm39) |
F258S |
probably damaging |
Het |
Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,247,862 (GRCm39) |
T1233I |
probably damaging |
Het |
Hspg2 |
C |
A |
4: 137,270,136 (GRCm39) |
Q2365K |
probably benign |
Het |
Intu |
A |
G |
3: 40,647,017 (GRCm39) |
|
probably null |
Het |
Kdm1b |
T |
C |
13: 47,232,672 (GRCm39) |
M714T |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,852,316 (GRCm39) |
M924T |
probably damaging |
Het |
Klb |
A |
T |
5: 65,536,577 (GRCm39) |
M636L |
probably benign |
Het |
Klrb1a |
G |
A |
6: 128,586,699 (GRCm39) |
H219Y |
probably benign |
Het |
Macroh2a2 |
T |
C |
10: 61,583,496 (GRCm39) |
I215V |
probably benign |
Het |
Marchf10 |
C |
T |
11: 105,280,957 (GRCm39) |
D443N |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,043,459 (GRCm39) |
E578G |
probably damaging |
Het |
Or8b39 |
T |
C |
9: 37,996,419 (GRCm39) |
C96R |
probably damaging |
Het |
Or9i1 |
T |
C |
19: 13,839,328 (GRCm39) |
I57T |
probably benign |
Het |
Pard3b |
A |
G |
1: 61,678,502 (GRCm39) |
Y34C |
probably damaging |
Het |
Pcdh17 |
T |
A |
14: 84,684,856 (GRCm39) |
V441E |
probably damaging |
Het |
Pde6g |
A |
T |
11: 120,338,998 (GRCm39) |
I64N |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,773,571 (GRCm39) |
V593M |
probably damaging |
Het |
Pnn |
T |
G |
12: 59,118,716 (GRCm39) |
V433G |
possibly damaging |
Het |
Rbak |
G |
A |
5: 143,159,745 (GRCm39) |
S436F |
probably damaging |
Het |
Rpl11 |
A |
G |
4: 135,780,043 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,785,610 (GRCm39) |
Q1701K |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,154,977 (GRCm39) |
T661S |
probably benign |
Het |
Smg1 |
T |
A |
7: 117,756,386 (GRCm39) |
|
probably benign |
Het |
St8sia2 |
T |
C |
7: 73,616,648 (GRCm39) |
D109G |
probably benign |
Het |
Stk-ps1 |
T |
A |
17: 36,709,105 (GRCm39) |
|
noncoding transcript |
Het |
Stxbp3-ps |
C |
T |
19: 9,535,334 (GRCm39) |
|
noncoding transcript |
Het |
Taf1d |
T |
A |
9: 15,220,146 (GRCm39) |
F132I |
probably damaging |
Het |
Tfap2b |
A |
G |
1: 19,284,250 (GRCm39) |
S35G |
possibly damaging |
Het |
Tnk2 |
C |
T |
16: 32,488,341 (GRCm39) |
T198I |
probably benign |
Het |
Trappc2b |
T |
C |
11: 51,576,796 (GRCm39) |
H34R |
probably benign |
Het |
Ube2q2 |
T |
A |
9: 55,099,163 (GRCm39) |
V168E |
possibly damaging |
Het |
Ucma |
A |
G |
2: 4,986,141 (GRCm39) |
R105G |
probably benign |
Het |
Vmn2r97 |
C |
T |
17: 19,148,617 (GRCm39) |
Q171* |
probably null |
Het |
Wapl |
T |
C |
14: 34,452,619 (GRCm39) |
|
probably null |
Het |
Zfand4 |
T |
A |
6: 116,291,256 (GRCm39) |
C397S |
possibly damaging |
Het |
Zfhx3 |
A |
G |
8: 109,675,583 (GRCm39) |
N2211S |
probably damaging |
Het |
Zfp143 |
G |
T |
7: 109,669,687 (GRCm39) |
G39C |
probably benign |
Het |
Zfp574 |
C |
T |
7: 24,781,375 (GRCm39) |
A799V |
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 |
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 |
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'- TGGTCCTGACACCTCGAAAC -3'
(R):5'- TTGTCACAGTCCTTACACTCAAAG -3'
Sequencing Primer
(F):5'- GAAACCTCAGAGCGCTCAGG -3'
(R):5'- TTACACTCAAAGCGCCGTG -3'
|
Posted On |
2016-10-24 |