Incidental Mutation 'R1178:Zfp473'
ID |
100140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp473
|
Ensembl Gene |
ENSMUSG00000048012 |
Gene Name |
zinc finger protein 473 |
Synonyms |
D030014N22Rik |
MMRRC Submission |
039250-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R1178 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44380904-44398041 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44384018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 105
(D105G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127738
(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: D105G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000051069 Gene: ENSMUSG00000048012 AA Change: D105G
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: D104G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113316 Gene: ENSMUSG00000048012 AA Change: D104G
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: D105G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113774 Gene: ENSMUSG00000048012 AA Change: D105G
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: D104G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113789 Gene: ENSMUSG00000048012 AA Change: D104G
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
AA Change: D105G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000127738 Gene: ENSMUSG00000048012 AA Change: D105G
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.5%
|
Validation Efficiency |
98% (51/52) |
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 |
Adgrv1 |
G |
T |
13: 81,588,156 (GRCm39) |
|
probably benign |
Het |
Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
Brinp1 |
C |
T |
4: 68,680,790 (GRCm39) |
G580E |
probably damaging |
Het |
Cep128 |
G |
A |
12: 91,226,929 (GRCm39) |
T227M |
probably damaging |
Het |
Cxcr2 |
A |
T |
1: 74,197,527 (GRCm39) |
D7V |
probably benign |
Het |
Dync2h1 |
C |
T |
9: 7,101,193 (GRCm39) |
|
probably benign |
Het |
Eps8 |
T |
C |
6: 137,499,852 (GRCm39) |
Q209R |
possibly damaging |
Het |
Gabrg3 |
C |
T |
7: 56,384,839 (GRCm39) |
V241I |
probably benign |
Het |
Gfpt2 |
T |
C |
11: 49,714,136 (GRCm39) |
S298P |
probably benign |
Het |
Gm6797 |
T |
A |
X: 8,508,004 (GRCm39) |
|
noncoding transcript |
Het |
Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,120,698 (GRCm39) |
L742P |
probably damaging |
Het |
Hgd |
A |
G |
16: 37,435,756 (GRCm39) |
I115V |
possibly damaging |
Het |
Hmgcll1 |
A |
T |
9: 76,037,613 (GRCm39) |
D169V |
probably damaging |
Het |
Ifi202b |
A |
T |
1: 173,799,788 (GRCm39) |
I231K |
probably benign |
Het |
Itpripl1 |
A |
G |
2: 126,983,819 (GRCm39) |
I101T |
probably benign |
Het |
Kcnj9 |
A |
G |
1: 172,150,530 (GRCm39) |
V361A |
probably benign |
Het |
Map4k5 |
G |
A |
12: 69,863,152 (GRCm39) |
T567M |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,952,717 (GRCm39) |
D82G |
probably benign |
Het |
Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
Or8d2b |
A |
G |
9: 38,789,051 (GRCm39) |
E193G |
probably damaging |
Het |
Or8g50 |
A |
G |
9: 39,648,642 (GRCm39) |
Y177C |
probably damaging |
Het |
Pfn2 |
C |
T |
3: 57,752,766 (GRCm39) |
V3I |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Pkhd1 |
C |
T |
1: 20,655,381 (GRCm39) |
|
probably null |
Het |
Plekha2 |
A |
C |
8: 25,549,218 (GRCm39) |
S189A |
probably benign |
Het |
Prune2 |
T |
C |
19: 17,100,469 (GRCm39) |
V1991A |
probably benign |
Het |
Psg17 |
T |
C |
7: 18,548,380 (GRCm39) |
T464A |
probably benign |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rab8b |
A |
G |
9: 66,760,249 (GRCm39) |
M125T |
possibly damaging |
Het |
Rbl1 |
T |
A |
2: 156,989,575 (GRCm39) |
M1015L |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,794,725 (GRCm39) |
Q149L |
probably benign |
Het |
Scn2a |
C |
A |
2: 65,517,123 (GRCm39) |
|
probably benign |
Het |
Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
Smcr8 |
G |
A |
11: 60,670,358 (GRCm39) |
R502H |
probably damaging |
Het |
Spag16 |
G |
A |
1: 69,962,817 (GRCm39) |
|
probably benign |
Het |
Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
Stk25 |
T |
C |
1: 93,551,111 (GRCm39) |
|
probably benign |
Het |
Syngap1 |
A |
G |
17: 27,176,779 (GRCm39) |
N314D |
probably damaging |
Het |
Tek |
T |
C |
4: 94,692,524 (GRCm39) |
C160R |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tll2 |
T |
G |
19: 41,081,286 (GRCm39) |
D712A |
probably damaging |
Het |
Tmprss13 |
A |
T |
9: 45,239,945 (GRCm39) |
R84S |
unknown |
Het |
Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
Ubr1 |
T |
A |
2: 120,756,510 (GRCm39) |
K706* |
probably null |
Het |
Upk2 |
A |
T |
9: 44,365,470 (GRCm39) |
S33T |
probably benign |
Het |
Usp47 |
T |
G |
7: 111,709,205 (GRCm39) |
M1317R |
possibly damaging |
Het |
Wdr19 |
T |
C |
5: 65,381,208 (GRCm39) |
Y411H |
probably damaging |
Het |
Zfp143 |
C |
T |
7: 109,674,928 (GRCm39) |
|
probably benign |
Het |
Zfp474 |
C |
T |
18: 52,771,814 (GRCm39) |
Q156* |
probably null |
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 |
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 |
|
Posted On |
2014-01-15 |