Incidental Mutation 'R6288:Zfp473'
ID |
509233 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp473
|
Ensembl Gene |
ENSMUSG00000048012 |
Gene Name |
zinc finger protein 473 |
Synonyms |
D030014N22Rik |
MMRRC Submission |
044458-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R6288 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44380904-44398041 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 44382958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 457
(K457N)
|
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: K458N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000051069 Gene: ENSMUSG00000048012 AA Change: K458N
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: K457N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113316 Gene: ENSMUSG00000048012 AA Change: K457N
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: K458N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113774 Gene: ENSMUSG00000048012 AA Change: K458N
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: K457N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113789 Gene: ENSMUSG00000048012 AA Change: K457N
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
97% (32/33) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
G |
T |
11: 58,184,421 (GRCm39) |
D380Y |
probably damaging |
Het |
4931406B18Rik |
T |
A |
7: 43,147,549 (GRCm39) |
E274V |
probably damaging |
Het |
Ankrd44 |
A |
G |
1: 54,802,922 (GRCm39) |
L192P |
probably damaging |
Het |
Apbb1 |
T |
A |
7: 105,208,434 (GRCm39) |
I624F |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,526,040 (GRCm39) |
K219E |
possibly damaging |
Het |
Bean1 |
T |
A |
8: 104,937,622 (GRCm39) |
L33Q |
probably damaging |
Het |
Cdhr17 |
T |
A |
5: 17,061,283 (GRCm39) |
C738S |
possibly damaging |
Het |
Col22a1 |
T |
C |
15: 71,766,718 (GRCm39) |
|
probably null |
Het |
Col6a4 |
T |
C |
9: 105,945,462 (GRCm39) |
D884G |
probably damaging |
Het |
Crocc2 |
A |
G |
1: 93,122,227 (GRCm39) |
R707G |
probably benign |
Het |
Cts7 |
C |
T |
13: 61,500,584 (GRCm39) |
G321E |
probably damaging |
Het |
Cyp2d9 |
C |
T |
15: 82,340,616 (GRCm39) |
H422Y |
probably damaging |
Het |
Epha2 |
C |
T |
4: 141,044,344 (GRCm39) |
A382V |
probably benign |
Het |
Fam151a |
A |
C |
4: 106,605,341 (GRCm39) |
T568P |
probably damaging |
Het |
Fbln2 |
A |
T |
6: 91,210,263 (GRCm39) |
Y69F |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,111,092 (GRCm39) |
H1040L |
unknown |
Het |
Gucy2g |
T |
C |
19: 55,215,945 (GRCm39) |
T476A |
probably benign |
Het |
H3c7 |
A |
G |
13: 23,728,664 (GRCm39) |
T4A |
probably benign |
Het |
Ighv1-20 |
C |
T |
12: 114,687,519 (GRCm39) |
G75D |
probably benign |
Het |
Inpp5b |
G |
A |
4: 124,679,020 (GRCm39) |
V476I |
probably benign |
Het |
Nrxn2 |
T |
A |
19: 6,540,591 (GRCm39) |
L855Q |
probably damaging |
Het |
Or52ab2 |
A |
G |
7: 102,970,286 (GRCm39) |
I223V |
probably damaging |
Het |
Or8h7 |
A |
G |
2: 86,721,226 (GRCm39) |
F98L |
probably benign |
Het |
Pcolce2 |
T |
A |
9: 95,563,646 (GRCm39) |
Y211N |
probably damaging |
Het |
Phf21b |
A |
C |
15: 84,739,272 (GRCm39) |
|
probably benign |
Het |
Rbm8a2 |
T |
C |
1: 175,806,111 (GRCm39) |
E122G |
probably benign |
Het |
Rimbp3 |
C |
T |
16: 17,030,772 (GRCm39) |
P1399S |
probably benign |
Het |
Slc38a1 |
A |
G |
15: 96,484,759 (GRCm39) |
V267A |
probably benign |
Het |
Sox11 |
A |
G |
12: 27,392,332 (GRCm39) |
F26L |
possibly damaging |
Het |
Ssbp3 |
T |
A |
4: 106,903,277 (GRCm39) |
|
probably null |
Het |
Trim12c |
C |
T |
7: 103,995,936 (GRCm39) |
V146I |
probably benign |
Het |
Trrap |
C |
A |
5: 144,748,802 (GRCm39) |
T1543K |
probably 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 |
R5464:Zfp473
|
UTSW |
7 |
44,382,062 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CCGGTGTCGAACTAAGTGTG -3'
(R):5'- ACTCTACAAGTGCGCTTCG -3'
Sequencing Primer
(F):5'- TCGGTTAAAAGTCCTGGCAC -3'
(R):5'- AAGTGCGCTTCGTGCCC -3'
|
Posted On |
2018-04-02 |