Incidental Mutation 'R2429:Zfp574'
ID |
250343 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp574
|
Ensembl Gene |
ENSMUSG00000045252 |
Gene Name |
zinc finger protein 574 |
Synonyms |
A630056B21Rik |
MMRRC Submission |
040391-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2429 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
24775099-24782917 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 24779482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 168
(L168*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053410]
[ENSMUST00000179556]
|
AlphaFold |
Q8BY46 |
Predicted Effect |
probably null
Transcript: ENSMUST00000053410
AA Change: L168*
|
SMART Domains |
Protein: ENSMUSP00000057817 Gene: ENSMUSG00000045252 AA Change: L168*
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
16 |
38 |
4.98e-1 |
SMART |
ZnF_C2H2
|
76 |
98 |
4.05e-1 |
SMART |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
ZnF_C2H2
|
126 |
148 |
1.99e0 |
SMART |
low complexity region
|
156 |
173 |
N/A |
INTRINSIC |
ZnF_C2H2
|
213 |
235 |
4.4e-2 |
SMART |
low complexity region
|
237 |
254 |
N/A |
INTRINSIC |
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
ZnF_C2H2
|
312 |
334 |
7.15e-2 |
SMART |
ZnF_C2H2
|
339 |
361 |
1.04e-3 |
SMART |
ZnF_C2H2
|
367 |
389 |
4.12e0 |
SMART |
ZnF_C2H2
|
395 |
416 |
2.12e1 |
SMART |
low complexity region
|
418 |
434 |
N/A |
INTRINSIC |
ZnF_C2H2
|
469 |
492 |
1.03e-2 |
SMART |
ZnF_C2H2
|
498 |
520 |
2.75e-3 |
SMART |
ZnF_C2H2
|
526 |
548 |
3.39e-3 |
SMART |
ZnF_C2H2
|
554 |
576 |
2.75e-3 |
SMART |
ZnF_C2H2
|
582 |
604 |
2.86e-1 |
SMART |
ZnF_C2H2
|
610 |
633 |
1.25e-1 |
SMART |
ZnF_C2H2
|
639 |
659 |
4.5e1 |
SMART |
low complexity region
|
660 |
666 |
N/A |
INTRINSIC |
ZnF_C2H2
|
670 |
692 |
2.29e0 |
SMART |
ZnF_C2H2
|
742 |
764 |
2.91e-2 |
SMART |
ZnF_C2H2
|
770 |
792 |
5.59e-4 |
SMART |
ZnF_C2H2
|
798 |
820 |
3.34e-2 |
SMART |
ZnF_C2H2
|
826 |
848 |
4.24e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000179556
AA Change: L168*
|
SMART Domains |
Protein: ENSMUSP00000136547 Gene: ENSMUSG00000045252 AA Change: L168*
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
16 |
38 |
4.98e-1 |
SMART |
ZnF_C2H2
|
76 |
98 |
4.05e-1 |
SMART |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
ZnF_C2H2
|
126 |
148 |
1.99e0 |
SMART |
low complexity region
|
156 |
173 |
N/A |
INTRINSIC |
ZnF_C2H2
|
213 |
235 |
4.4e-2 |
SMART |
low complexity region
|
237 |
254 |
N/A |
INTRINSIC |
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
ZnF_C2H2
|
312 |
334 |
7.15e-2 |
SMART |
ZnF_C2H2
|
339 |
361 |
1.04e-3 |
SMART |
ZnF_C2H2
|
367 |
389 |
4.12e0 |
SMART |
ZnF_C2H2
|
395 |
416 |
2.12e1 |
SMART |
low complexity region
|
418 |
434 |
N/A |
INTRINSIC |
ZnF_C2H2
|
469 |
492 |
1.03e-2 |
SMART |
ZnF_C2H2
|
498 |
520 |
2.75e-3 |
SMART |
ZnF_C2H2
|
526 |
548 |
3.39e-3 |
SMART |
ZnF_C2H2
|
554 |
576 |
2.75e-3 |
SMART |
ZnF_C2H2
|
582 |
604 |
2.86e-1 |
SMART |
ZnF_C2H2
|
610 |
633 |
1.25e-1 |
SMART |
ZnF_C2H2
|
639 |
659 |
4.5e1 |
SMART |
low complexity region
|
660 |
666 |
N/A |
INTRINSIC |
ZnF_C2H2
|
670 |
692 |
2.29e0 |
SMART |
ZnF_C2H2
|
742 |
764 |
2.91e-2 |
SMART |
ZnF_C2H2
|
770 |
792 |
5.59e-4 |
SMART |
ZnF_C2H2
|
798 |
820 |
3.34e-2 |
SMART |
ZnF_C2H2
|
826 |
848 |
4.24e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206530
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206733
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930470P17Rik |
A |
T |
2: 170,421,745 (GRCm39) |
M45K |
unknown |
Het |
Abcd3 |
A |
G |
3: 121,586,512 (GRCm39) |
F63L |
probably damaging |
Het |
Acsm3 |
A |
T |
7: 119,367,223 (GRCm39) |
M19L |
probably benign |
Het |
Actn4 |
T |
C |
7: 28,597,496 (GRCm39) |
K41E |
probably benign |
Het |
Atp8b3 |
T |
A |
10: 80,362,728 (GRCm39) |
I677L |
probably benign |
Het |
Auh |
C |
T |
13: 53,073,052 (GRCm39) |
G110R |
probably damaging |
Het |
Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
Cntn6 |
T |
C |
6: 104,627,526 (GRCm39) |
Y120H |
possibly damaging |
Het |
Gnpat |
T |
C |
8: 125,603,758 (GRCm39) |
F212S |
probably damaging |
Het |
Gpd1 |
A |
G |
15: 99,618,488 (GRCm39) |
M181V |
probably benign |
Het |
Itgb3 |
A |
T |
11: 104,527,914 (GRCm39) |
K216N |
probably damaging |
Het |
Kif21a |
G |
A |
15: 90,882,208 (GRCm39) |
T32M |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,326,377 (GRCm39) |
V3477A |
probably damaging |
Het |
Mettl13 |
A |
T |
1: 162,373,894 (GRCm39) |
L119* |
probably null |
Het |
Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
Myh8 |
A |
G |
11: 67,194,723 (GRCm39) |
N1645D |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,210,583 (GRCm39) |
|
probably null |
Het |
Npffr2 |
A |
T |
5: 89,731,006 (GRCm39) |
Y312F |
probably damaging |
Het |
Pla2r1 |
C |
A |
2: 60,345,312 (GRCm39) |
C348F |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,179,362 (GRCm39) |
N590S |
probably damaging |
Het |
Prpsap1 |
G |
A |
11: 116,363,061 (GRCm39) |
T314M |
probably damaging |
Het |
Prss35 |
T |
C |
9: 86,637,398 (GRCm39) |
V56A |
probably benign |
Het |
Setx |
T |
C |
2: 29,069,910 (GRCm39) |
S2572P |
probably benign |
Het |
Sf3b1 |
T |
C |
1: 55,055,960 (GRCm39) |
D93G |
possibly damaging |
Het |
Slc26a7 |
C |
A |
4: 14,506,399 (GRCm39) |
|
probably benign |
Het |
Slc39a12 |
T |
G |
2: 14,409,897 (GRCm39) |
S298A |
probably benign |
Het |
Sorl1 |
G |
T |
9: 41,948,366 (GRCm39) |
D806E |
probably damaging |
Het |
Syt1 |
T |
C |
10: 108,526,781 (GRCm39) |
K43E |
possibly damaging |
Het |
Trmt1l |
T |
A |
1: 151,309,581 (GRCm39) |
L88Q |
probably damaging |
Het |
Zfp334 |
G |
A |
2: 165,222,432 (GRCm39) |
T537I |
probably damaging |
Het |
|
Other mutations in Zfp574 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00228:Zfp574
|
APN |
7 |
24,781,015 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02370:Zfp574
|
APN |
7 |
24,779,014 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02706:Zfp574
|
APN |
7 |
24,780,790 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03119:Zfp574
|
APN |
7 |
24,779,898 (GRCm39) |
missense |
probably benign |
|
glue
|
UTSW |
7 |
24,780,515 (GRCm39) |
missense |
|
|
BB004:Zfp574
|
UTSW |
7 |
24,779,572 (GRCm39) |
missense |
probably benign |
|
BB014:Zfp574
|
UTSW |
7 |
24,779,572 (GRCm39) |
missense |
probably benign |
|
R0866:Zfp574
|
UTSW |
7 |
24,779,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R3123:Zfp574
|
UTSW |
7 |
24,781,026 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3124:Zfp574
|
UTSW |
7 |
24,781,026 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3125:Zfp574
|
UTSW |
7 |
24,781,026 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4581:Zfp574
|
UTSW |
7 |
24,780,738 (GRCm39) |
missense |
probably damaging |
0.98 |
R4591:Zfp574
|
UTSW |
7 |
24,778,969 (GRCm39) |
start gained |
probably benign |
|
R4915:Zfp574
|
UTSW |
7 |
24,780,151 (GRCm39) |
missense |
probably damaging |
0.98 |
R4953:Zfp574
|
UTSW |
7 |
24,780,388 (GRCm39) |
missense |
probably damaging |
0.97 |
R5305:Zfp574
|
UTSW |
7 |
24,780,515 (GRCm39) |
missense |
|
|
R5541:Zfp574
|
UTSW |
7 |
24,781,375 (GRCm39) |
missense |
probably damaging |
0.99 |
R5934:Zfp574
|
UTSW |
7 |
24,779,757 (GRCm39) |
missense |
probably benign |
|
R6088:Zfp574
|
UTSW |
7 |
24,779,764 (GRCm39) |
missense |
probably benign |
0.01 |
R7061:Zfp574
|
UTSW |
7 |
24,779,622 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7563:Zfp574
|
UTSW |
7 |
24,780,777 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7615:Zfp574
|
UTSW |
7 |
24,780,001 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7927:Zfp574
|
UTSW |
7 |
24,779,572 (GRCm39) |
missense |
probably benign |
|
R8017:Zfp574
|
UTSW |
7 |
24,780,095 (GRCm39) |
nonsense |
probably null |
|
R8019:Zfp574
|
UTSW |
7 |
24,780,095 (GRCm39) |
nonsense |
probably null |
|
R8788:Zfp574
|
UTSW |
7 |
24,779,816 (GRCm39) |
missense |
unknown |
|
R8871:Zfp574
|
UTSW |
7 |
24,780,562 (GRCm39) |
missense |
probably damaging |
0.99 |
R8915:Zfp574
|
UTSW |
7 |
24,780,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R9484:Zfp574
|
UTSW |
7 |
24,781,404 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9533:Zfp574
|
UTSW |
7 |
24,780,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R9606:Zfp574
|
UTSW |
7 |
24,780,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R9623:Zfp574
|
UTSW |
7 |
24,780,515 (GRCm39) |
missense |
|
|
X0026:Zfp574
|
UTSW |
7 |
24,780,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGATGATGGCACCGCAG -3'
(R):5'- AACTGTGATCAGAGGCTGGC -3'
Sequencing Primer
(F):5'- AGTGCCAGCCAAGCCAC -3'
(R):5'- TGAGACACTGCTGCCTCAG -3'
|
Posted On |
2014-11-12 |