Incidental Mutation 'R5464:Zfp473'
ID |
433159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp473
|
Ensembl Gene |
ENSMUSG00000048012 |
Gene Name |
zinc finger protein 473 |
Synonyms |
D030014N22Rik |
MMRRC Submission |
042850-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R5464 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44380904-44398041 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44382062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 756
(E756G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060270]
[ENSMUST00000118162]
[ENSMUST00000120074]
[ENSMUST00000120798]
[ENSMUST00000126366]
[ENSMUST00000140599]
[ENSMUST00000149011]
|
AlphaFold |
Q8BI67 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060270
AA Change: E757G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051069 Gene: ENSMUSG00000048012 AA Change: E757G
Domain | Start | End | E-Value | Type |
KRAB
|
23 |
84 |
8.77e-3 |
SMART |
ZnF_C2H2
|
209 |
231 |
1.18e-2 |
SMART |
ZnF_C2H2
|
265 |
287 |
8.47e-4 |
SMART |
ZnF_C2H2
|
377 |
399 |
2.4e-3 |
SMART |
ZnF_C2H2
|
404 |
426 |
8.31e0 |
SMART |
ZnF_C2H2
|
432 |
454 |
1.64e-1 |
SMART |
ZnF_C2H2
|
460 |
482 |
1.98e-4 |
SMART |
ZnF_C2H2
|
488 |
510 |
3.44e-4 |
SMART |
ZnF_C2H2
|
516 |
538 |
2.57e-3 |
SMART |
ZnF_C2H2
|
544 |
566 |
3.29e-1 |
SMART |
ZnF_C2H2
|
572 |
594 |
2.29e0 |
SMART |
ZnF_C2H2
|
697 |
719 |
1.47e1 |
SMART |
ZnF_C2H2
|
725 |
747 |
1.04e-3 |
SMART |
ZnF_C2H2
|
753 |
775 |
3.39e-3 |
SMART |
ZnF_C2H2
|
781 |
803 |
2.24e-3 |
SMART |
ZnF_C2H2
|
809 |
831 |
5.99e-4 |
SMART |
ZnF_C2H2
|
837 |
859 |
1.36e-2 |
SMART |
ZnF_C2H2
|
865 |
887 |
2.57e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118162
AA Change: E756G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113316 Gene: ENSMUSG00000048012 AA Change: E756G
Domain | Start | End | E-Value | Type |
KRAB
|
23 |
83 |
7.75e-3 |
SMART |
ZnF_C2H2
|
208 |
230 |
1.18e-2 |
SMART |
ZnF_C2H2
|
264 |
286 |
8.47e-4 |
SMART |
ZnF_C2H2
|
376 |
398 |
2.4e-3 |
SMART |
ZnF_C2H2
|
403 |
425 |
8.31e0 |
SMART |
ZnF_C2H2
|
431 |
453 |
1.64e-1 |
SMART |
ZnF_C2H2
|
459 |
481 |
1.98e-4 |
SMART |
ZnF_C2H2
|
487 |
509 |
3.44e-4 |
SMART |
ZnF_C2H2
|
515 |
537 |
2.57e-3 |
SMART |
ZnF_C2H2
|
543 |
565 |
3.29e-1 |
SMART |
ZnF_C2H2
|
571 |
593 |
2.29e0 |
SMART |
ZnF_C2H2
|
696 |
718 |
1.47e1 |
SMART |
ZnF_C2H2
|
724 |
746 |
1.04e-3 |
SMART |
ZnF_C2H2
|
752 |
774 |
3.39e-3 |
SMART |
ZnF_C2H2
|
780 |
802 |
2.24e-3 |
SMART |
ZnF_C2H2
|
808 |
830 |
5.99e-4 |
SMART |
ZnF_C2H2
|
836 |
858 |
1.36e-2 |
SMART |
ZnF_C2H2
|
864 |
886 |
2.57e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120074
AA Change: E757G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113774 Gene: ENSMUSG00000048012 AA Change: E757G
Domain | Start | End | E-Value | Type |
KRAB
|
23 |
84 |
8.77e-3 |
SMART |
ZnF_C2H2
|
209 |
231 |
1.18e-2 |
SMART |
ZnF_C2H2
|
265 |
287 |
8.47e-4 |
SMART |
ZnF_C2H2
|
377 |
399 |
2.4e-3 |
SMART |
ZnF_C2H2
|
404 |
426 |
8.31e0 |
SMART |
ZnF_C2H2
|
432 |
454 |
1.64e-1 |
SMART |
ZnF_C2H2
|
460 |
482 |
1.98e-4 |
SMART |
ZnF_C2H2
|
488 |
510 |
3.44e-4 |
SMART |
ZnF_C2H2
|
516 |
538 |
2.57e-3 |
SMART |
ZnF_C2H2
|
544 |
566 |
3.29e-1 |
SMART |
ZnF_C2H2
|
572 |
594 |
2.29e0 |
SMART |
ZnF_C2H2
|
697 |
719 |
1.47e1 |
SMART |
ZnF_C2H2
|
725 |
747 |
1.04e-3 |
SMART |
ZnF_C2H2
|
753 |
775 |
3.39e-3 |
SMART |
ZnF_C2H2
|
781 |
803 |
2.24e-3 |
SMART |
ZnF_C2H2
|
809 |
831 |
5.99e-4 |
SMART |
ZnF_C2H2
|
837 |
859 |
1.36e-2 |
SMART |
ZnF_C2H2
|
865 |
887 |
2.57e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120798
AA Change: E756G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113789 Gene: ENSMUSG00000048012 AA Change: E756G
Domain | Start | End | E-Value | Type |
KRAB
|
23 |
83 |
7.75e-3 |
SMART |
ZnF_C2H2
|
208 |
230 |
1.18e-2 |
SMART |
ZnF_C2H2
|
264 |
286 |
8.47e-4 |
SMART |
ZnF_C2H2
|
376 |
398 |
2.4e-3 |
SMART |
ZnF_C2H2
|
403 |
425 |
8.31e0 |
SMART |
ZnF_C2H2
|
431 |
453 |
1.64e-1 |
SMART |
ZnF_C2H2
|
459 |
481 |
1.98e-4 |
SMART |
ZnF_C2H2
|
487 |
509 |
3.44e-4 |
SMART |
ZnF_C2H2
|
515 |
537 |
2.57e-3 |
SMART |
ZnF_C2H2
|
543 |
565 |
3.29e-1 |
SMART |
ZnF_C2H2
|
571 |
593 |
2.29e0 |
SMART |
ZnF_C2H2
|
696 |
718 |
1.47e1 |
SMART |
ZnF_C2H2
|
724 |
746 |
1.04e-3 |
SMART |
ZnF_C2H2
|
752 |
774 |
3.39e-3 |
SMART |
ZnF_C2H2
|
780 |
802 |
2.24e-3 |
SMART |
ZnF_C2H2
|
808 |
830 |
5.99e-4 |
SMART |
ZnF_C2H2
|
836 |
858 |
1.36e-2 |
SMART |
ZnF_C2H2
|
864 |
886 |
2.57e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126366
|
SMART Domains |
Protein: ENSMUSP00000127101 Gene: ENSMUSG00000048012
Domain | Start | End | E-Value | Type |
KRAB
|
23 |
84 |
8.77e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140599
|
SMART Domains |
Protein: ENSMUSP00000127738 Gene: ENSMUSG00000048012
Domain | Start | End | E-Value | Type |
KRAB
|
23 |
84 |
8.77e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149011
|
SMART Domains |
Protein: ENSMUSP00000130689 Gene: ENSMUSG00000048012
Domain | Start | End | E-Value | Type |
KRAB
|
23 |
84 |
8.77e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3'-end pre-mRNA processing and may be required for cell cycle progression to S phase. Expression level and methylation status of this gene may be correlated with bone mineral density. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
Acsl1 |
T |
A |
8: 46,958,775 (GRCm39) |
D95E |
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adamts16 |
T |
A |
13: 70,909,868 (GRCm39) |
H895L |
probably benign |
Het |
Alox12e |
T |
C |
11: 70,208,505 (GRCm39) |
Y483C |
probably damaging |
Het |
Atp13a2 |
T |
A |
4: 140,733,381 (GRCm39) |
F952I |
probably damaging |
Het |
Crot |
T |
G |
5: 9,033,690 (GRCm39) |
|
probably null |
Het |
Dnaja1 |
T |
A |
4: 40,724,133 (GRCm39) |
M98K |
probably benign |
Het |
Eps8 |
C |
T |
6: 137,504,473 (GRCm39) |
G87R |
probably damaging |
Het |
Flg2 |
C |
A |
3: 93,109,277 (GRCm39) |
T435K |
possibly damaging |
Het |
Gpatch4 |
T |
C |
3: 87,962,062 (GRCm39) |
|
probably null |
Het |
Heatr1 |
T |
A |
13: 12,448,524 (GRCm39) |
M1795K |
probably benign |
Het |
Ift52 |
T |
C |
2: 162,871,735 (GRCm39) |
V189A |
probably benign |
Het |
Kif21a |
T |
A |
15: 90,878,058 (GRCm39) |
D250V |
probably damaging |
Het |
Lrrc66 |
T |
C |
5: 73,765,622 (GRCm39) |
T474A |
probably benign |
Het |
Mcub |
T |
C |
3: 129,709,365 (GRCm39) |
E316G |
probably benign |
Het |
Mettl15 |
C |
T |
2: 109,021,967 (GRCm39) |
V113I |
probably benign |
Het |
Mroh8 |
T |
A |
2: 157,063,150 (GRCm39) |
I824F |
probably damaging |
Het |
Mrpl19 |
A |
G |
6: 81,938,992 (GRCm39) |
M270T |
probably damaging |
Het |
Naa12 |
C |
T |
18: 80,255,138 (GRCm39) |
A144V |
probably damaging |
Het |
Or10d4 |
A |
T |
9: 39,581,066 (GRCm39) |
T238S |
probably damaging |
Het |
Or4ac1-ps1 |
T |
C |
2: 88,370,599 (GRCm39) |
Y58C |
probably null |
Het |
Or51a25 |
A |
G |
7: 102,373,124 (GRCm39) |
V191A |
possibly damaging |
Het |
Or51a39 |
T |
C |
7: 102,362,889 (GRCm39) |
T244A |
probably benign |
Het |
Or51a43 |
C |
A |
7: 103,717,674 (GRCm39) |
R188L |
possibly damaging |
Het |
Or51f5 |
A |
G |
7: 102,424,640 (GRCm39) |
K303R |
probably benign |
Het |
Or52a24 |
T |
A |
7: 103,381,396 (GRCm39) |
W88R |
probably damaging |
Het |
Or5ak23 |
AAGTCTGGAGTC |
AAGTC |
2: 85,245,057 (GRCm39) |
|
probably null |
Het |
Or6x1 |
T |
C |
9: 40,099,080 (GRCm39) |
I223T |
probably damaging |
Het |
Pacs1 |
T |
C |
19: 5,197,235 (GRCm39) |
M430V |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,278,176 (GRCm39) |
S243P |
probably damaging |
Het |
Ppp1r36 |
A |
T |
12: 76,474,852 (GRCm39) |
|
probably null |
Het |
Prdm16 |
T |
A |
4: 154,430,601 (GRCm39) |
|
probably null |
Het |
Prss36 |
A |
T |
7: 127,533,405 (GRCm39) |
W97R |
probably damaging |
Het |
Psmg4 |
A |
T |
13: 34,362,047 (GRCm39) |
I112F |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,499,868 (GRCm39) |
G1259R |
probably damaging |
Het |
Rsph4a |
T |
C |
10: 33,785,337 (GRCm39) |
I416T |
possibly damaging |
Het |
Scn2a |
C |
T |
2: 65,532,100 (GRCm39) |
R571C |
probably damaging |
Het |
Selenbp1 |
A |
G |
3: 94,851,727 (GRCm39) |
M423V |
probably benign |
Het |
Serpina3i |
G |
A |
12: 104,234,751 (GRCm39) |
A361T |
possibly damaging |
Het |
Serpinb3c |
A |
T |
1: 107,199,434 (GRCm39) |
D362E |
probably damaging |
Het |
Sf3a3 |
T |
C |
4: 124,622,033 (GRCm39) |
|
probably null |
Het |
Sgcg |
A |
G |
14: 61,474,304 (GRCm39) |
V113A |
possibly damaging |
Het |
Slc3a2 |
T |
C |
19: 8,691,008 (GRCm39) |
K74R |
probably damaging |
Het |
Smco1 |
T |
A |
16: 32,092,694 (GRCm39) |
W122R |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,339,269 (GRCm39) |
K136E |
possibly damaging |
Het |
Trim32 |
A |
G |
4: 65,532,625 (GRCm39) |
N394S |
probably damaging |
Het |
Uqcrb |
T |
C |
13: 67,048,889 (GRCm39) |
D87G |
probably damaging |
Het |
Wipf3 |
T |
C |
6: 54,462,308 (GRCm39) |
S173P |
possibly damaging |
Het |
|
Other mutations in Zfp473 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01153:Zfp473
|
APN |
7 |
44,383,992 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01443:Zfp473
|
APN |
7 |
44,388,987 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01459:Zfp473
|
APN |
7 |
44,388,987 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01905:Zfp473
|
APN |
7 |
44,383,151 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02027:Zfp473
|
APN |
7 |
44,387,462 (GRCm39) |
splice site |
probably benign |
|
IGL02314:Zfp473
|
APN |
7 |
44,383,353 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02445:Zfp473
|
APN |
7 |
44,383,107 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03033:Zfp473
|
APN |
7 |
44,382,522 (GRCm39) |
missense |
probably benign |
0.05 |
R0037:Zfp473
|
UTSW |
7 |
44,383,324 (GRCm39) |
missense |
probably damaging |
0.96 |
R0054:Zfp473
|
UTSW |
7 |
44,383,899 (GRCm39) |
missense |
probably damaging |
0.99 |
R0054:Zfp473
|
UTSW |
7 |
44,383,899 (GRCm39) |
missense |
probably damaging |
0.99 |
R0190:Zfp473
|
UTSW |
7 |
44,382,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R1178:Zfp473
|
UTSW |
7 |
44,384,018 (GRCm39) |
missense |
probably benign |
0.00 |
R1387:Zfp473
|
UTSW |
7 |
44,382,365 (GRCm39) |
missense |
probably benign |
0.00 |
R2141:Zfp473
|
UTSW |
7 |
44,382,501 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2142:Zfp473
|
UTSW |
7 |
44,382,501 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4194:Zfp473
|
UTSW |
7 |
44,381,676 (GRCm39) |
missense |
probably benign |
0.08 |
R4453:Zfp473
|
UTSW |
7 |
44,382,678 (GRCm39) |
missense |
probably damaging |
0.99 |
R4585:Zfp473
|
UTSW |
7 |
44,382,376 (GRCm39) |
nonsense |
probably null |
|
R4586:Zfp473
|
UTSW |
7 |
44,382,376 (GRCm39) |
nonsense |
probably null |
|
R4945:Zfp473
|
UTSW |
7 |
44,383,988 (GRCm39) |
missense |
probably benign |
0.00 |
R5072:Zfp473
|
UTSW |
7 |
44,381,943 (GRCm39) |
missense |
probably damaging |
0.98 |
R5429:Zfp473
|
UTSW |
7 |
44,382,272 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5551:Zfp473
|
UTSW |
7 |
44,383,575 (GRCm39) |
missense |
probably benign |
0.03 |
R5618:Zfp473
|
UTSW |
7 |
44,391,156 (GRCm39) |
missense |
probably benign |
0.08 |
R5985:Zfp473
|
UTSW |
7 |
44,382,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R6288:Zfp473
|
UTSW |
7 |
44,382,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R6701:Zfp473
|
UTSW |
7 |
44,382,218 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7069:Zfp473
|
UTSW |
7 |
44,381,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R7284:Zfp473
|
UTSW |
7 |
44,382,627 (GRCm39) |
missense |
not run |
|
R7361:Zfp473
|
UTSW |
7 |
44,382,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R7495:Zfp473
|
UTSW |
7 |
44,387,368 (GRCm39) |
missense |
probably benign |
0.04 |
R7631:Zfp473
|
UTSW |
7 |
44,383,128 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7940:Zfp473
|
UTSW |
7 |
44,384,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7957:Zfp473
|
UTSW |
7 |
44,381,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R8480:Zfp473
|
UTSW |
7 |
44,382,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R9464:Zfp473
|
UTSW |
7 |
44,383,766 (GRCm39) |
missense |
probably benign |
0.00 |
R9569:Zfp473
|
UTSW |
7 |
44,388,971 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Zfp473
|
UTSW |
7 |
44,382,842 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zfp473
|
UTSW |
7 |
44,381,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCTGAACTCTATGGTTTGGCC -3'
(R):5'- TGTGACATATACAACAGGGCC -3'
Sequencing Primer
(F):5'- TCCCCAGTGTGAATTCTAAGGTGAAG -3'
(R):5'- AGGGCCTTCAAACAGCGTG -3'
|
Posted On |
2016-10-06 |