Incidental Mutation 'IGL02314:Zfp473'
| ID |
287944 |
| 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: 0.107)
|
| Stock # |
IGL02314
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44380904-44398041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44383353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 326
(S326G)
|
| 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: S327G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000051069
Gene: ENSMUSG00000048012
AA Change: S327G
| 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: S326G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113316
Gene: ENSMUSG00000048012
AA Change: S326G
| 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: S327G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113774
Gene: ENSMUSG00000048012
AA Change: S327G
| 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: S326G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113789
Gene: ENSMUSG00000048012
AA Change: S326G
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg2 |
T |
A |
4: 47,472,143 (GRCm39) |
K94* |
probably null |
Het |
| Axl |
A |
G |
7: 25,486,345 (GRCm39) |
F120L |
possibly damaging |
Het |
| Baz2b |
A |
G |
2: 59,792,571 (GRCm39) |
V519A |
probably benign |
Het |
| Cdk2 |
A |
T |
10: 128,539,595 (GRCm39) |
I99N |
probably damaging |
Het |
| Ces1b |
C |
A |
8: 93,791,524 (GRCm39) |
W358C |
possibly damaging |
Het |
| Cimap1b |
T |
G |
15: 89,262,372 (GRCm39) |
K82N |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,533,903 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
T |
G |
9: 105,874,355 (GRCm39) |
T2211P |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,125,265 (GRCm39) |
E438K |
probably benign |
Het |
| Dpy19l4 |
T |
A |
4: 11,267,720 (GRCm39) |
T407S |
possibly damaging |
Het |
| Dtx3 |
G |
A |
10: 127,026,828 (GRCm39) |
|
probably benign |
Het |
| Eif1ad14 |
T |
A |
12: 87,886,377 (GRCm39) |
Y84F |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,881,134 (GRCm39) |
L3246H |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,779 (GRCm39) |
D224V |
probably damaging |
Het |
| Fndc9 |
A |
T |
11: 46,129,122 (GRCm39) |
I214F |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,117,264 (GRCm39) |
I22N |
probably damaging |
Het |
| Gkn1 |
T |
C |
6: 87,326,103 (GRCm39) |
D29G |
probably benign |
Het |
| Gng11 |
T |
A |
6: 4,004,317 (GRCm39) |
M1K |
probably null |
Het |
| Hdac7 |
T |
C |
15: 97,706,885 (GRCm39) |
D237G |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,777,600 (GRCm39) |
Y199C |
probably damaging |
Het |
| Hgfac |
A |
T |
5: 35,198,941 (GRCm39) |
M1L |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,833,777 (GRCm39) |
T35A |
probably damaging |
Het |
| Htr3a |
G |
A |
9: 48,815,927 (GRCm39) |
P170L |
probably damaging |
Het |
| Ighv12-3 |
A |
G |
12: 114,330,421 (GRCm39) |
S25P |
probably damaging |
Het |
| Jph2 |
A |
T |
2: 163,239,273 (GRCm39) |
N58K |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,836,275 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,740,638 (GRCm39) |
Y394* |
probably null |
Het |
| Macf1 |
G |
T |
4: 123,338,630 (GRCm39) |
T2248K |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,351,553 (GRCm39) |
|
probably benign |
Het |
| Map4k5 |
G |
A |
12: 69,865,213 (GRCm39) |
P524S |
probably benign |
Het |
| Mcf2l |
C |
T |
8: 13,051,851 (GRCm39) |
S359L |
probably damaging |
Het |
| Mdh1b |
C |
T |
1: 63,750,273 (GRCm39) |
|
probably null |
Het |
| Mfhas1 |
G |
A |
8: 36,055,927 (GRCm39) |
R134H |
probably damaging |
Het |
| Mogs |
A |
G |
6: 83,095,036 (GRCm39) |
T618A |
probably benign |
Het |
| Mybpc2 |
T |
A |
7: 44,171,812 (GRCm39) |
Q39H |
possibly damaging |
Het |
| Myoc |
C |
T |
1: 162,466,917 (GRCm39) |
R29W |
probably damaging |
Het |
| Nae1 |
A |
G |
8: 105,252,938 (GRCm39) |
M162T |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,805,532 (GRCm39) |
I126V |
probably benign |
Het |
| Nxnl2 |
C |
A |
13: 51,325,565 (GRCm39) |
F69L |
probably benign |
Het |
| Oca2 |
T |
A |
7: 56,006,899 (GRCm39) |
I662N |
probably benign |
Het |
| Or52b3 |
A |
T |
7: 102,204,318 (GRCm39) |
I276F |
probably damaging |
Het |
| Or5w8 |
A |
G |
2: 87,688,400 (GRCm39) |
N294D |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,099 (GRCm39) |
S217T |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,774 (GRCm39) |
I213L |
probably benign |
Het |
| Pcdhb14 |
G |
A |
18: 37,583,248 (GRCm39) |
E785K |
probably benign |
Het |
| Plb1 |
A |
C |
5: 32,438,492 (GRCm39) |
Y209S |
possibly damaging |
Het |
| Pramel24 |
T |
C |
4: 143,455,012 (GRCm39) |
S437P |
probably benign |
Het |
| Rab44 |
C |
A |
17: 29,358,327 (GRCm39) |
Q172K |
probably benign |
Het |
| Rnf214 |
A |
T |
9: 45,811,105 (GRCm39) |
V186E |
probably benign |
Het |
| Rps6ka1 |
C |
A |
4: 133,578,065 (GRCm39) |
G522W |
probably damaging |
Het |
| Samhd1 |
G |
T |
2: 156,976,948 (GRCm39) |
T21K |
probably damaging |
Het |
| Scly |
A |
G |
1: 91,246,763 (GRCm39) |
Y358C |
probably benign |
Het |
| Sfxn2 |
A |
G |
19: 46,571,026 (GRCm39) |
N29D |
possibly damaging |
Het |
| Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
| Slc44a5 |
G |
A |
3: 153,962,156 (GRCm39) |
S363N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,753,932 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
A |
T |
4: 155,945,119 (GRCm39) |
C701S |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,234,502 (GRCm39) |
S14P |
possibly damaging |
Het |
| Trmt6 |
G |
A |
2: 132,647,378 (GRCm39) |
A486V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,727,091 (GRCm39) |
R1602* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,365,826 (GRCm39) |
M2227V |
probably benign |
Het |
| Vmn2r96 |
A |
T |
17: 18,804,221 (GRCm39) |
Q490H |
probably benign |
Het |
| Wdr19 |
G |
T |
5: 65,414,463 (GRCm39) |
A1279S |
probably benign |
Het |
| Zbtb7c |
G |
A |
18: 76,278,937 (GRCm39) |
R465H |
probably 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 |
|
|
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 |
|
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