Incidental Mutation 'IGL03033:Zfp473'
| ID |
408532 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp473
|
| Ensembl Gene |
ENSMUSG00000048012 |
| Gene Name |
zinc finger protein 473 |
| Synonyms |
D030014N22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
IGL03033
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44380904-44398041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44382522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 603
(V603M)
|
| 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 benign
Transcript: ENSMUST00000060270
AA Change: V604M
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000051069
Gene: ENSMUSG00000048012
AA Change: V604M
| 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 benign
Transcript: ENSMUST00000118162
AA Change: V603M
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113316
Gene: ENSMUSG00000048012
AA Change: V603M
| 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: ENSMUST00000120074
AA Change: V604M
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113774
Gene: ENSMUSG00000048012
AA Change: V604M
| 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 benign
Transcript: ENSMUST00000120798
AA Change: V603M
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113789
Gene: ENSMUSG00000048012
AA Change: V603M
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
A |
T |
6: 48,909,452 (GRCm39) |
T566S |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,585,003 (GRCm39) |
T405A |
probably benign |
Het |
| Bicd2 |
G |
T |
13: 49,533,396 (GRCm39) |
V587L |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,993,192 (GRCm39) |
D853E |
probably damaging |
Het |
| Cacna1i |
C |
A |
15: 80,246,440 (GRCm39) |
N611K |
probably damaging |
Het |
| Capn11 |
A |
G |
17: 45,953,473 (GRCm39) |
L227P |
probably damaging |
Het |
| Copb2 |
A |
G |
9: 98,452,426 (GRCm39) |
N70S |
probably benign |
Het |
| Ddb1 |
T |
C |
19: 10,603,290 (GRCm39) |
V866A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,208,826 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
A |
G |
13: 12,596,551 (GRCm39) |
Y117C |
probably damaging |
Het |
| Esyt1 |
T |
G |
10: 128,352,252 (GRCm39) |
R758S |
probably benign |
Het |
| Gm20441 |
A |
G |
10: 75,607,326 (GRCm39) |
F55S |
probably damaging |
Het |
| Gm20547 |
A |
T |
17: 35,078,492 (GRCm39) |
M362K |
probably damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,653,393 (GRCm39) |
V334A |
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,958 (GRCm39) |
F53L |
probably benign |
Het |
| Kcnk18 |
C |
T |
19: 59,223,616 (GRCm39) |
P254S |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,886,833 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lrp3 |
T |
C |
7: 34,902,052 (GRCm39) |
M589V |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,665 (GRCm39) |
V918A |
probably benign |
Het |
| Nsg2 |
A |
G |
11: 31,951,836 (GRCm39) |
T29A |
probably damaging |
Het |
| Or51b4 |
T |
A |
7: 103,530,724 (GRCm39) |
H242L |
probably damaging |
Het |
| Pank4 |
C |
T |
4: 155,059,172 (GRCm39) |
T435I |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,163,502 (GRCm39) |
|
probably null |
Het |
| Prr14 |
G |
T |
7: 127,071,135 (GRCm39) |
L3F |
probably damaging |
Het |
| Rfx7 |
A |
T |
9: 72,440,271 (GRCm39) |
|
probably benign |
Het |
| Rhbdl3 |
A |
G |
11: 80,237,653 (GRCm39) |
N295S |
probably damaging |
Het |
| Ripk3 |
A |
G |
14: 56,024,622 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
T |
4: 100,269,092 (GRCm39) |
N310I |
possibly damaging |
Het |
| Rpl23a |
T |
C |
11: 78,072,408 (GRCm39) |
Y74C |
possibly damaging |
Het |
| Rtp3 |
A |
T |
9: 110,815,162 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,514,213 (GRCm39) |
N1326K |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,818,018 (GRCm39) |
N253S |
probably damaging |
Het |
| Setd2 |
A |
C |
9: 110,380,343 (GRCm39) |
E1386A |
possibly damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,537,596 (GRCm39) |
I1211V |
possibly damaging |
Het |
| Sh3tc2 |
G |
A |
18: 62,107,549 (GRCm39) |
V187M |
possibly damaging |
Het |
| Slc30a6 |
G |
T |
17: 74,716,373 (GRCm39) |
E136* |
probably null |
Het |
| Sptan1 |
T |
A |
2: 29,881,045 (GRCm39) |
V438E |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,832,667 (GRCm39) |
|
probably null |
Het |
| Sult2a1 |
T |
A |
7: 13,566,635 (GRCm39) |
|
probably benign |
Het |
| Tmem198 |
A |
G |
1: 75,459,612 (GRCm39) |
D189G |
possibly damaging |
Het |
| Tnfrsf8 |
C |
A |
4: 145,019,219 (GRCm39) |
L205F |
possibly damaging |
Het |
| Vmn1r68 |
T |
A |
7: 10,262,074 (GRCm39) |
E8V |
probably damaging |
Het |
| Wnk3 |
G |
A |
X: 150,059,924 (GRCm39) |
D742N |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,468,297 (GRCm39) |
|
probably null |
Het |
| Zfp113 |
A |
T |
5: 138,149,458 (GRCm39) |
|
probably benign |
Het |
| Zfp120 |
A |
T |
2: 149,961,794 (GRCm39) |
D51E |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation