Incidental Mutation 'R3124:Zfp574'
| ID |
264196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp574
|
| Ensembl Gene |
ENSMUSG00000045252 |
| Gene Name |
zinc finger protein 574 |
| Synonyms |
A630056B21Rik |
| MMRRC Submission |
040597-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3124 (G1)
|
| Quality Score |
139 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24775099-24782917 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24781026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 683
(A683S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053410]
[ENSMUST00000179556]
|
| AlphaFold |
Q8BY46 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053410
AA Change: A683S
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057817
Gene: ENSMUSG00000045252
AA Change: A683S
| 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 |
possibly damaging
Transcript: ENSMUST00000179556
AA Change: A683S
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136547
Gene: ENSMUSG00000045252
AA Change: A683S
| 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 |
0.0871 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
| Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
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 |
|
R2429:Zfp574
|
UTSW |
7 |
24,779,482 (GRCm39) |
nonsense |
probably null |
|
|
R3123: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'- TCCACCAGCTTGTGATCCATG -3'
(R):5'- TGGACCTGTAGTGACGTCTC -3'
Sequencing Primer
(F):5'- CTTGTGATCCATGCTGGGC -3'
(R):5'- GAAGAGCTTCTTGCACTCACTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation