Incidental Mutation 'R5985:Zfp473'
| ID |
481600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp473
|
| Ensembl Gene |
ENSMUSG00000048012 |
| Gene Name |
zinc finger protein 473 |
| Synonyms |
D030014N22Rik |
| MMRRC Submission |
044165-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R5985 (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 T
at 44382752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 526
(R526Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060270]
[ENSMUST00000118162]
[ENSMUST00000120074]
[ENSMUST00000120798]
[ENSMUST00000126366]
[ENSMUST00000140599]
[ENSMUST00000149011]
|
| AlphaFold |
Q8BI67 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060270
AA Change: R527Q
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051069
Gene: ENSMUSG00000048012
AA Change: R527Q
| 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: R526Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113316
Gene: ENSMUSG00000048012
AA Change: R526Q
| 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 |
possibly damaging
Transcript: ENSMUST00000120074
AA Change: R527Q
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113774
Gene: ENSMUSG00000048012
AA Change: R527Q
| 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: R526Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113789
Gene: ENSMUSG00000048012
AA Change: R526Q
| 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 |
0.2137 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
96% (47/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,241,628 (GRCm39) |
I1164L |
probably benign |
Het |
| Actn1 |
C |
A |
12: 80,215,169 (GRCm39) |
G864V |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,604,146 (GRCm39) |
I34T |
probably benign |
Het |
| Ankrd10 |
T |
A |
8: 11,669,077 (GRCm39) |
K225* |
probably null |
Het |
| Ankrd29 |
G |
A |
18: 12,412,832 (GRCm39) |
A115V |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,808,763 (GRCm39) |
Y643N |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,304,667 (GRCm39) |
T1175A |
probably damaging |
Het |
| Atp12a |
A |
G |
14: 56,621,798 (GRCm39) |
D781G |
probably damaging |
Het |
| B4galnt3 |
G |
A |
6: 120,187,119 (GRCm39) |
P759S |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,675,411 (GRCm39) |
I448V |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,284,507 (GRCm39) |
F821L |
probably damaging |
Het |
| Cpeb3 |
T |
C |
19: 37,064,952 (GRCm39) |
Y498C |
probably damaging |
Het |
| Defb37 |
A |
T |
8: 19,036,347 (GRCm39) |
C58S |
probably damaging |
Het |
| Faap20 |
T |
C |
4: 155,334,797 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
C |
T |
4: 82,884,287 (GRCm39) |
V1204I |
probably benign |
Het |
| Gal3st2 |
T |
C |
1: 93,801,335 (GRCm39) |
V46A |
possibly damaging |
Het |
| Gan |
C |
T |
8: 117,922,557 (GRCm39) |
S430L |
possibly damaging |
Het |
| Gas2 |
T |
A |
7: 51,593,424 (GRCm39) |
I168K |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,898,140 (GRCm39) |
D740G |
probably damaging |
Het |
| Gm3898 |
G |
A |
9: 43,741,329 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
C |
9: 4,503,593 (GRCm39) |
Q341R |
probably damaging |
Het |
| Herpud1 |
G |
A |
8: 95,117,422 (GRCm39) |
R2Q |
probably damaging |
Het |
| Klf15 |
G |
A |
6: 90,443,703 (GRCm39) |
G93R |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,004,873 (GRCm39) |
F568L |
probably benign |
Het |
| Myod1 |
A |
G |
7: 46,027,222 (GRCm39) |
Y229C |
probably damaging |
Het |
| Or12e14 |
A |
G |
2: 87,187,949 (GRCm39) |
I54V |
probably benign |
Het |
| Or5l13 |
A |
G |
2: 87,779,665 (GRCm39) |
M304T |
probably benign |
Het |
| Phf11b |
A |
G |
14: 59,559,027 (GRCm39) |
L235P |
possibly damaging |
Het |
| Pira1 |
C |
A |
7: 3,740,316 (GRCm39) |
G302C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Prox1 |
A |
T |
1: 189,879,152 (GRCm39) |
F675L |
possibly damaging |
Het |
| Rnf144a |
C |
T |
12: 26,367,779 (GRCm39) |
E176K |
probably benign |
Het |
| Safb2 |
T |
C |
17: 56,870,181 (GRCm39) |
E965G |
possibly damaging |
Het |
| Sik3 |
A |
G |
9: 46,122,973 (GRCm39) |
N874S |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,958,233 (GRCm39) |
I180V |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,383,328 (GRCm39) |
V1141A |
possibly damaging |
Het |
| Spns1 |
G |
A |
7: 125,975,902 (GRCm39) |
T84I |
probably benign |
Het |
| Syne2 |
C |
G |
12: 76,012,933 (GRCm39) |
P2709R |
probably damaging |
Het |
| Terb1 |
A |
T |
8: 105,178,439 (GRCm39) |
S662T |
probably benign |
Het |
| Terb1 |
A |
G |
8: 105,208,948 (GRCm39) |
S377P |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,303,205 (GRCm39) |
Y258H |
probably damaging |
Het |
| Trip12 |
T |
A |
1: 84,703,492 (GRCm39) |
E1881D |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,958,358 (GRCm39) |
L412P |
probably damaging |
Het |
| Ttll13 |
C |
T |
7: 79,904,386 (GRCm39) |
A337V |
probably damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,067,527 (GRCm39) |
K344E |
possibly damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,855 (GRCm39) |
I7F |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,082 (GRCm39) |
N303K |
possibly damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,800,587 (GRCm39) |
V585A |
probably benign |
Het |
| Zan |
A |
C |
5: 137,444,299 (GRCm39) |
|
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,508,774 (GRCm39) |
N502K |
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 |
|
R5618:Zfp473
|
UTSW |
7 |
44,391,156 (GRCm39) |
missense |
probably benign |
0.08 |
|
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'- CCTGCAAATGAAGTGTTCTCCAC -3'
(R):5'- TCACTCATTAAGCACCAGGC -3'
Sequencing Primer
(F):5'- TCCACACTGCTTACACTCATACAAG -3'
(R):5'- GTGGTAAAGCTTTCAACCACTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation