Incidental Mutation 'R5618:Zfp473'
| ID |
439638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp473
|
| Ensembl Gene |
ENSMUSG00000048012 |
| Gene Name |
zinc finger protein 473 |
| Synonyms |
D030014N22Rik |
| MMRRC Submission |
043277-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R5618 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44380904-44398041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44391156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 6
(D6V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130689
(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: D6V
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000051069
Gene: ENSMUSG00000048012
AA Change: D6V
| 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: D6V
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113316
Gene: ENSMUSG00000048012
AA Change: D6V
| 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: D6V
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113774
Gene: ENSMUSG00000048012
AA Change: D6V
| 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: D6V
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113789
Gene: ENSMUSG00000048012
AA Change: D6V
| 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
AA Change: D6V
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127101
Gene: ENSMUSG00000048012
AA Change: D6V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
23 |
84 |
8.77e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140599
AA Change: D6V
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127738
Gene: ENSMUSG00000048012
AA Change: D6V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
23 |
84 |
8.77e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149011
AA Change: D6V
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000130689
Gene: ENSMUSG00000048012
AA Change: D6V
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
G |
A |
5: 107,696,065 (GRCm39) |
W167* |
probably null |
Het |
| Acvr1 |
C |
T |
2: 58,352,955 (GRCm39) |
R335Q |
probably damaging |
Het |
| Atg7 |
A |
G |
6: 114,650,660 (GRCm39) |
D67G |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,846,446 (GRCm39) |
F417S |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,502,000 (GRCm39) |
L702Q |
probably damaging |
Het |
| Bcl7a |
A |
T |
5: 123,499,265 (GRCm39) |
N95Y |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,973,031 (GRCm39) |
D454G |
possibly damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,887,249 (GRCm39) |
Q1226H |
probably benign |
Het |
| Cct5 |
A |
G |
15: 31,598,161 (GRCm39) |
S13P |
possibly damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,710,738 (GRCm39) |
E822K |
probably benign |
Het |
| Csgalnact2 |
A |
T |
6: 118,103,277 (GRCm39) |
D228E |
probably damaging |
Het |
| Defb12 |
A |
T |
8: 19,164,814 (GRCm39) |
M8K |
possibly damaging |
Het |
| Dipk1b |
T |
C |
2: 26,524,887 (GRCm39) |
S96P |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,083,806 (GRCm39) |
D736G |
probably benign |
Het |
| Exog |
G |
T |
9: 119,291,817 (GRCm39) |
D365Y |
probably damaging |
Het |
| Fam222b |
T |
G |
11: 78,045,066 (GRCm39) |
V81G |
probably benign |
Het |
| Fbl |
A |
G |
7: 27,878,411 (GRCm39) |
E301G |
probably damaging |
Het |
| Fez1 |
A |
T |
9: 36,755,228 (GRCm39) |
N76Y |
probably damaging |
Het |
| Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,598,901 (GRCm39) |
F57Y |
probably damaging |
Het |
| Ift88 |
T |
C |
14: 57,718,965 (GRCm39) |
I650T |
possibly damaging |
Het |
| Kif1b |
A |
T |
4: 149,354,346 (GRCm39) |
D231E |
possibly damaging |
Het |
| Lig4 |
A |
T |
8: 10,022,021 (GRCm39) |
D586E |
probably benign |
Het |
| Mlc1 |
C |
A |
15: 88,858,769 (GRCm39) |
L126F |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,754,253 (GRCm38) |
T1376A |
probably benign |
Het |
| Ncoa6 |
A |
T |
2: 155,279,817 (GRCm39) |
D66E |
possibly damaging |
Het |
| Or6ae1 |
A |
G |
7: 139,742,185 (GRCm39) |
V226A |
probably damaging |
Het |
| Or8b44 |
C |
T |
9: 38,410,036 (GRCm39) |
Q24* |
probably null |
Het |
| Pard6a |
T |
C |
8: 106,429,546 (GRCm39) |
V168A |
probably damaging |
Het |
| Pmpcb |
A |
G |
5: 21,947,786 (GRCm39) |
N163S |
possibly damaging |
Het |
| Pramel27 |
A |
T |
4: 143,577,263 (GRCm39) |
E15V |
possibly damaging |
Het |
| Prdm2 |
C |
T |
4: 142,860,107 (GRCm39) |
C1061Y |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,627,476 (GRCm39) |
Y3378C |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,415,015 (GRCm39) |
V425E |
probably damaging |
Het |
| Sema7a |
A |
T |
9: 57,867,566 (GRCm39) |
E439D |
possibly damaging |
Het |
| Serpinf1 |
T |
A |
11: 75,301,010 (GRCm39) |
T402S |
possibly damaging |
Het |
| Sf3a2 |
T |
C |
10: 80,640,410 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,321,545 (GRCm39) |
S1346T |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,762,722 (GRCm39) |
D172E |
probably damaging |
Het |
| Spag5 |
T |
G |
11: 78,194,906 (GRCm39) |
I71S |
probably benign |
Het |
| Spata31d1d |
G |
A |
13: 59,874,214 (GRCm39) |
A1107V |
probably benign |
Het |
| Svep1 |
A |
C |
4: 58,070,537 (GRCm39) |
S2416R |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,969,221 (GRCm39) |
Y503C |
probably damaging |
Het |
| Tlr9 |
A |
T |
9: 106,101,938 (GRCm39) |
I410F |
possibly damaging |
Het |
| Tmem87a |
C |
A |
2: 120,199,787 (GRCm39) |
L452F |
probably benign |
Het |
| Tmprss11d |
A |
T |
5: 86,454,154 (GRCm39) |
M217K |
probably benign |
Het |
| Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,755 (GRCm39) |
Y36H |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,817 (GRCm39) |
F83Y |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,554,388 (GRCm39) |
R75H |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,413,863 (GRCm39) |
Y242N |
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 |
|
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 |
|
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'- GCCCCAGTTATTTCCTGTAAAC -3'
(R):5'- GCAGGTTCTGAAGCTTGATG -3'
Sequencing Primer
(F):5'- GTCTGAATTCAAGGCCATCCTGAG -3'
(R):5'- GAATTTTAGGGATGGGATAATCTCAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation