Incidental Mutation 'R0866:Zfp574'
| ID |
82348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp574
|
| Ensembl Gene |
ENSMUSG00000045252 |
| Gene Name |
zinc finger protein 574 |
| Synonyms |
A630056B21Rik |
| MMRRC Submission |
039040-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0866 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24775099-24782917 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24779323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 115
(K115M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053410]
[ENSMUST00000179556]
|
| AlphaFold |
Q8BY46 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053410
AA Change: K115M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057817
Gene: ENSMUSG00000045252
AA Change: K115M
| 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 damaging
Transcript: ENSMUST00000179556
AA Change: K115M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136547
Gene: ENSMUSG00000045252
AA Change: K115M
| 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 |
0.0740 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
G |
T |
6: 131,529,742 (GRCm39) |
R112L |
unknown |
Het |
| Abcd4 |
G |
T |
12: 84,658,507 (GRCm39) |
A232E |
probably damaging |
Het |
| Acsm5 |
T |
A |
7: 119,140,123 (GRCm39) |
I508N |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,132,156 (GRCm39) |
Q263R |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,879,451 (GRCm39) |
L1890P |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,363,384 (GRCm39) |
D560N |
probably damaging |
Het |
| Crb3 |
T |
A |
17: 57,369,743 (GRCm39) |
L17Q |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,115,098 (GRCm39) |
R78L |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,599,229 (GRCm39) |
C669S |
probably damaging |
Het |
| Gria2 |
A |
T |
3: 80,629,331 (GRCm39) |
|
probably benign |
Het |
| H2-M11 |
T |
C |
17: 36,859,829 (GRCm39) |
L274P |
probably benign |
Het |
| Hmox1 |
A |
G |
8: 75,823,931 (GRCm39) |
T200A |
probably benign |
Het |
| Hspa8 |
G |
A |
9: 40,713,920 (GRCm39) |
|
probably null |
Het |
| Isy1 |
C |
A |
6: 87,796,094 (GRCm39) |
R281L |
probably benign |
Het |
| Kiz |
C |
A |
2: 146,697,973 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,371,591 (GRCm39) |
K704R |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,375,147 (GRCm39) |
D4484E |
probably damaging |
Het |
| Lrrc7 |
C |
A |
3: 157,869,903 (GRCm39) |
|
probably benign |
Het |
| Mtmr14 |
T |
C |
6: 113,216,543 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,438,474 (GRCm39) |
V660E |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,570,513 (GRCm39) |
I1190T |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,376 (GRCm39) |
R318G |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,210,596 (GRCm39) |
T1739A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or5h18 |
C |
T |
16: 58,847,791 (GRCm39) |
V160I |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,126,957 (GRCm39) |
E722G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,662,656 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,277,923 (GRCm39) |
F413I |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,392,628 (GRCm39) |
Y24C |
probably damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,988 (GRCm39) |
S103P |
probably damaging |
Het |
| Rtn1 |
G |
T |
12: 72,355,156 (GRCm39) |
Y263* |
probably null |
Het |
| Slc22a1 |
T |
C |
17: 12,875,933 (GRCm39) |
E427G |
probably benign |
Het |
| Speg |
A |
G |
1: 75,393,727 (GRCm39) |
T1695A |
probably damaging |
Het |
| Tlx3 |
C |
A |
11: 33,153,315 (GRCm39) |
G49W |
probably damaging |
Het |
| Tor1b |
A |
G |
2: 30,846,928 (GRCm39) |
M292V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,854 (GRCm39) |
L128Q |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfc3h1 |
G |
A |
10: 115,263,621 (GRCm39) |
V1821I |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,477,272 (GRCm39) |
T3271S |
possibly damaging |
Het |
| Zfp386 |
G |
T |
12: 116,018,329 (GRCm39) |
|
probably benign |
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 |
|
|
R2429:Zfp574
|
UTSW |
7 |
24,779,482 (GRCm39) |
nonsense |
probably null |
|
|
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'- GCTCTGAGTGCAACCAGCTCTATG -3'
(R):5'- TAGAGGAGCAGCTCCACTTCTGTC -3'
Sequencing Primer
(F):5'- AGCAGCACTTTGAGCTGG -3'
(R):5'- ATGTTCCACAGCCACTCG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation