Incidental Mutation 'R0190:Zfp473'
ID |
23168 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp473
|
Ensembl Gene |
ENSMUSG00000048012 |
Gene Name |
zinc finger protein 473 |
Synonyms |
D030014N22Rik |
MMRRC Submission |
038451-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R0190 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44380904-44398041 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44382612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 574
(C574S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113774
(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: C574S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051069 Gene: ENSMUSG00000048012 AA Change: C574S
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: C573S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113316 Gene: ENSMUSG00000048012 AA Change: C573S
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: C574S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113774 Gene: ENSMUSG00000048012 AA Change: C574S
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: C573S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113789 Gene: ENSMUSG00000048012 AA Change: C573S
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: 98.8%
- 3x: 97.6%
- 10x: 91.6%
- 20x: 72.5%
|
Validation Efficiency |
75% (45/60) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
T |
C |
8: 46,966,429 (GRCm39) |
|
probably null |
Het |
Aff2 |
CA |
CAAA |
X: 68,892,711 (GRCm39) |
|
probably null |
Het |
Ankrd34a |
A |
G |
3: 96,505,105 (GRCm39) |
D103G |
probably damaging |
Het |
Atp1b2 |
T |
C |
11: 69,492,388 (GRCm39) |
D224G |
probably damaging |
Het |
Atxn10 |
A |
G |
15: 85,220,730 (GRCm39) |
D22G |
possibly damaging |
Het |
Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
Caskin1 |
C |
T |
17: 24,723,596 (GRCm39) |
L795F |
possibly damaging |
Het |
Cdk12 |
T |
C |
11: 98,132,657 (GRCm39) |
|
probably null |
Het |
Crtc2 |
A |
G |
3: 90,166,716 (GRCm39) |
H91R |
probably damaging |
Het |
Dbt |
A |
G |
3: 116,332,736 (GRCm39) |
|
probably null |
Het |
Dda1 |
C |
A |
8: 71,924,877 (GRCm39) |
Y41* |
probably null |
Het |
Dnah2 |
T |
A |
11: 69,326,075 (GRCm39) |
D3692V |
probably damaging |
Het |
Dpep1 |
A |
G |
8: 123,927,447 (GRCm39) |
T334A |
probably benign |
Het |
Enthd1 |
C |
T |
15: 80,418,695 (GRCm39) |
|
probably null |
Het |
Fpr-rs6 |
T |
A |
17: 20,402,741 (GRCm39) |
I207F |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,815,521 (GRCm39) |
S3751R |
possibly damaging |
Het |
Gigyf2 |
A |
T |
1: 87,356,410 (GRCm39) |
|
probably benign |
Het |
Gtf3c4 |
C |
A |
2: 28,730,140 (GRCm39) |
D34Y |
probably benign |
Het |
Iftap |
G |
A |
2: 101,416,775 (GRCm39) |
S58L |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,889,790 (GRCm39) |
V2419E |
probably damaging |
Het |
Kank1 |
A |
T |
19: 25,386,647 (GRCm39) |
I79L |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,098,957 (GRCm39) |
H1415R |
probably benign |
Het |
Mad2l1 |
T |
C |
6: 66,516,862 (GRCm39) |
S185P |
possibly damaging |
Het |
Mettl18 |
A |
G |
1: 163,823,991 (GRCm39) |
E104G |
probably damaging |
Het |
Mrgprb2 |
G |
A |
7: 48,202,525 (GRCm39) |
H67Y |
possibly damaging |
Het |
Mrgprd |
G |
A |
7: 144,875,439 (GRCm39) |
M103I |
probably benign |
Het |
Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
Npc1 |
G |
A |
18: 12,324,887 (GRCm39) |
T1202I |
probably damaging |
Het |
Nucks1 |
A |
G |
1: 131,852,329 (GRCm39) |
D60G |
probably damaging |
Het |
Or10g7 |
A |
G |
9: 39,905,840 (GRCm39) |
I245V |
probably benign |
Het |
Or13f5 |
G |
C |
4: 52,825,613 (GRCm39) |
W72S |
probably damaging |
Het |
Or4a72 |
T |
A |
2: 89,405,302 (GRCm39) |
Y256F |
probably damaging |
Het |
Paqr8 |
A |
G |
1: 21,005,271 (GRCm39) |
T142A |
probably benign |
Het |
Pdss1 |
T |
C |
2: 22,796,843 (GRCm39) |
S119P |
probably damaging |
Het |
Plcl2 |
A |
G |
17: 50,914,671 (GRCm39) |
D560G |
probably benign |
Het |
Ppm1b |
T |
A |
17: 85,301,531 (GRCm39) |
V137E |
probably damaging |
Het |
Ppp1r16b |
A |
C |
2: 158,537,983 (GRCm39) |
K35Q |
probably damaging |
Het |
Prkd2 |
A |
T |
7: 16,603,815 (GRCm39) |
E832V |
probably damaging |
Het |
Rab34 |
G |
T |
11: 78,082,232 (GRCm39) |
K191N |
possibly damaging |
Het |
Rad51ap2 |
A |
C |
12: 11,508,540 (GRCm39) |
T821P |
probably benign |
Het |
Rbm19 |
A |
G |
5: 120,282,111 (GRCm39) |
T823A |
probably benign |
Het |
Rpf2 |
T |
G |
10: 40,103,597 (GRCm39) |
H106P |
probably damaging |
Het |
Schip1 |
A |
G |
3: 68,533,177 (GRCm39) |
M453V |
probably benign |
Het |
Sema5a |
T |
A |
15: 32,562,920 (GRCm39) |
N310K |
possibly damaging |
Het |
Sf3b1 |
T |
C |
1: 55,029,465 (GRCm39) |
D1179G |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,473,729 (GRCm39) |
T4S |
possibly damaging |
Het |
Slc22a5 |
A |
T |
11: 53,760,241 (GRCm39) |
Y358* |
probably null |
Het |
Slc34a1 |
T |
C |
13: 55,556,914 (GRCm39) |
M251T |
probably benign |
Het |
Slc44a5 |
A |
G |
3: 153,944,755 (GRCm39) |
D124G |
probably null |
Het |
Slc9b1 |
G |
A |
3: 135,063,434 (GRCm39) |
E73K |
unknown |
Het |
Ssbp2 |
T |
C |
13: 91,817,829 (GRCm39) |
L156P |
probably damaging |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Trim47 |
A |
G |
11: 115,997,053 (GRCm39) |
V568A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,718,324 (GRCm39) |
|
probably benign |
Het |
Ttpa |
A |
T |
4: 20,021,260 (GRCm39) |
I74F |
probably damaging |
Het |
Vmn2r52 |
T |
C |
7: 9,905,315 (GRCm39) |
I175V |
probably benign |
Het |
Wrn |
C |
T |
8: 33,731,011 (GRCm39) |
C1350Y |
probably benign |
Het |
Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
Zfp422 |
A |
T |
6: 116,603,572 (GRCm39) |
D142E |
probably damaging |
Het |
Zfp638 |
T |
A |
6: 83,905,946 (GRCm39) |
M37K |
probably damaging |
Het |
Zfp976 |
C |
A |
7: 42,291,948 (GRCm39) |
|
probably benign |
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 |
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 |
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'- TGATGGCAAATGGGCTGCACAC -3'
(R):5'- GCCAGGACTTTTAACCGACCTTCAC -3'
Sequencing Primer
(F):5'- ATGTCACCTGGGCATGAATC -3'
(R):5'- CACTTAGTTCGACACCGGC -3'
|
Posted On |
2013-04-16 |