Incidental Mutation 'IGL02445:Zfp473'
| ID |
293570 |
| 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 # |
IGL02445
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44380904-44398041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44383107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 408
(C408R)
|
| 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 damaging
Transcript: ENSMUST00000060270
AA Change: C409R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051069
Gene: ENSMUSG00000048012
AA Change: C409R
| 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: C408R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113316
Gene: ENSMUSG00000048012
AA Change: C408R
| 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: C409R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113774
Gene: ENSMUSG00000048012
AA Change: C409R
| 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: C408R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113789
Gene: ENSMUSG00000048012
AA Change: C408R
| 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 |
|---|
| Acacb |
C |
T |
5: 114,383,198 (GRCm39) |
T2127M |
probably damaging |
Het |
| Acp2 |
A |
G |
2: 91,036,606 (GRCm39) |
D175G |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,286,798 (GRCm39) |
L801P |
probably damaging |
Het |
| Adcy10 |
T |
G |
1: 165,398,313 (GRCm39) |
V1470G |
possibly damaging |
Het |
| Ankar |
T |
G |
1: 72,705,524 (GRCm39) |
K829Q |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,274,318 (GRCm39) |
Y531C |
probably benign |
Het |
| Atm |
T |
C |
9: 53,365,630 (GRCm39) |
I2590V |
probably benign |
Het |
| Brme1 |
T |
A |
8: 84,886,137 (GRCm39) |
M31K |
probably benign |
Het |
| Cblb |
T |
C |
16: 51,986,668 (GRCm39) |
L485P |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,283,911 (GRCm39) |
|
probably benign |
Het |
| Coprs |
T |
C |
8: 13,935,797 (GRCm39) |
K74R |
possibly damaging |
Het |
| Cul3 |
A |
T |
1: 80,281,886 (GRCm39) |
L31M |
possibly damaging |
Het |
| Cyp3a59 |
C |
A |
5: 146,033,463 (GRCm39) |
Q200K |
probably benign |
Het |
| Ddx19b |
C |
A |
8: 111,735,456 (GRCm39) |
V402L |
probably damaging |
Het |
| Disc1 |
T |
A |
8: 125,875,142 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
C |
T |
18: 20,579,307 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,324,963 (GRCm39) |
Y442S |
probably damaging |
Het |
| Dtl |
C |
T |
1: 191,290,172 (GRCm39) |
|
probably null |
Het |
| Ezh1 |
A |
C |
11: 101,101,513 (GRCm39) |
V175G |
possibly damaging |
Het |
| Hepacam2 |
C |
T |
6: 3,483,481 (GRCm39) |
G100D |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,340,764 (GRCm39) |
H1704Q |
possibly damaging |
Het |
| Itprid2 |
G |
A |
2: 79,487,842 (GRCm39) |
E642K |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,140,177 (GRCm39) |
S469P |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,242 (GRCm39) |
M270T |
probably benign |
Het |
| Nap1l3 |
A |
T |
X: 121,305,752 (GRCm39) |
V322D |
probably damaging |
Het |
| Ndufv2 |
A |
G |
17: 66,387,889 (GRCm39) |
|
probably benign |
Het |
| Or14j5 |
A |
T |
17: 38,162,008 (GRCm39) |
H175L |
probably damaging |
Het |
| Or4p18 |
G |
A |
2: 88,232,456 (GRCm39) |
T274I |
possibly damaging |
Het |
| Or8b55 |
T |
C |
9: 38,726,901 (GRCm39) |
I34T |
possibly damaging |
Het |
| Otol1 |
A |
T |
3: 69,935,367 (GRCm39) |
D453V |
probably damaging |
Het |
| Papolb |
G |
A |
5: 142,514,480 (GRCm39) |
H388Y |
probably benign |
Het |
| Ppp1r10 |
A |
G |
17: 36,237,094 (GRCm39) |
E128G |
probably damaging |
Het |
| Prss12 |
T |
A |
3: 123,280,669 (GRCm39) |
D451E |
probably damaging |
Het |
| Psmc1 |
T |
C |
12: 100,081,087 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
T |
A |
9: 72,833,222 (GRCm39) |
I10N |
probably benign |
Het |
| Rab31 |
C |
T |
17: 66,028,998 (GRCm39) |
|
probably null |
Het |
| Ret |
G |
A |
6: 118,158,860 (GRCm39) |
T184I |
probably damaging |
Het |
| Rhd |
A |
T |
4: 134,611,481 (GRCm39) |
M214L |
possibly damaging |
Het |
| Ripor3 |
C |
A |
2: 167,834,682 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,312,052 (GRCm39) |
L2036P |
probably benign |
Het |
| Slc26a3 |
C |
A |
12: 31,507,051 (GRCm39) |
D335E |
possibly damaging |
Het |
| Taf6 |
A |
G |
5: 138,182,756 (GRCm39) |
|
probably benign |
Het |
| Tnk2 |
T |
C |
16: 32,494,408 (GRCm39) |
V442A |
probably benign |
Het |
| Virma |
A |
G |
4: 11,527,029 (GRCm39) |
M1143V |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,848 (GRCm39) |
R522* |
probably null |
Het |
| Vmn2r-ps129 |
A |
G |
17: 23,227,393 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation