Incidental Mutation 'IGL02895:Znrf3'
| ID |
363384 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Znrf3
|
| Ensembl Gene |
ENSMUSG00000041961 |
| Gene Name |
zinc and ring finger 3 |
| Synonyms |
LOC382477 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02895
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5226329-5394847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5239085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 93
(M93V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109867]
[ENSMUST00000143746]
[ENSMUST00000172492]
|
| AlphaFold |
Q5SSZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109867
AA Change: M189V
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: M189V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
52 |
N/A |
INTRINSIC |
|
PDB:4CDK|D
|
53 |
205 |
1e-103 |
PDB |
|
transmembrane domain
|
218 |
235 |
N/A |
INTRINSIC |
|
RING
|
290 |
330 |
1.56e-6 |
SMART |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
913 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143746
AA Change: M189V
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122475
Gene: ENSMUSG00000041961
AA Change: M189V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
52 |
N/A |
INTRINSIC |
|
PDB:4CDK|D
|
53 |
205 |
1e-111 |
PDB |
|
low complexity region
|
209 |
225 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172492
AA Change: M93V
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: M93V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4CDK|D
|
2 |
109 |
5e-70 |
PDB |
|
transmembrane domain
|
122 |
139 |
N/A |
INTRINSIC |
|
RING
|
194 |
234 |
1.56e-6 |
SMART |
|
low complexity region
|
346 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
471 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit complete lethality around birth, aphakia, abnormal lens development and defective enural tube closure in some mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
T |
1: 179,621,376 (GRCm39) |
E130K |
probably damaging |
Het |
| Atf7ip |
C |
A |
6: 136,537,686 (GRCm39) |
S306R |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,676,029 (GRCm39) |
V1208A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,261,591 (GRCm39) |
|
probably benign |
Het |
| Ctsl |
C |
T |
13: 64,514,326 (GRCm39) |
A195T |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,044,519 (GRCm39) |
Y367H |
possibly damaging |
Het |
| Endod1 |
T |
A |
9: 14,268,166 (GRCm39) |
T440S |
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,612,186 (GRCm39) |
R526G |
probably damaging |
Het |
| Ighv1-39 |
T |
C |
12: 114,878,302 (GRCm39) |
T90A |
probably damaging |
Het |
| Kdm2a |
G |
A |
19: 4,412,930 (GRCm39) |
R19C |
probably damaging |
Het |
| Klra1 |
C |
T |
6: 130,352,203 (GRCm39) |
E180K |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,033,723 (GRCm39) |
Q21R |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,986 (GRCm39) |
Y175C |
probably damaging |
Het |
| Or8b8 |
G |
A |
9: 37,809,278 (GRCm39) |
V193I |
probably benign |
Het |
| Plk1 |
A |
G |
7: 121,768,389 (GRCm39) |
E504G |
possibly damaging |
Het |
| Rtl3 |
T |
C |
X: 105,883,150 (GRCm39) |
I37M |
possibly damaging |
Het |
| Srebf2 |
A |
G |
15: 82,031,668 (GRCm39) |
E22G |
possibly damaging |
Het |
| Tmem74b |
A |
G |
2: 151,548,311 (GRCm39) |
S13G |
probably benign |
Het |
| Utp14b |
T |
C |
1: 78,642,324 (GRCm39) |
V74A |
possibly damaging |
Het |
|
| Other mutations in Znrf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Znrf3
|
APN |
11 |
5,239,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01387:Znrf3
|
APN |
11 |
5,288,656 (GRCm39) |
nonsense |
probably null |
|
|
R0788:Znrf3
|
UTSW |
11 |
5,231,320 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1383:Znrf3
|
UTSW |
11 |
5,231,994 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1544:Znrf3
|
UTSW |
11 |
5,239,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Znrf3
|
UTSW |
11 |
5,231,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1586:Znrf3
|
UTSW |
11 |
5,231,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Znrf3
|
UTSW |
11 |
5,237,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1864:Znrf3
|
UTSW |
11 |
5,233,373 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1927:Znrf3
|
UTSW |
11 |
5,231,062 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2353:Znrf3
|
UTSW |
11 |
5,231,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2884:Znrf3
|
UTSW |
11 |
5,239,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2885:Znrf3
|
UTSW |
11 |
5,239,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4021:Znrf3
|
UTSW |
11 |
5,231,278 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4811:Znrf3
|
UTSW |
11 |
5,237,420 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4935:Znrf3
|
UTSW |
11 |
5,233,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5218:Znrf3
|
UTSW |
11 |
5,231,519 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5584:Znrf3
|
UTSW |
11 |
5,236,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Znrf3
|
UTSW |
11 |
5,239,006 (GRCm39) |
intron |
probably benign |
|
|
R5715:Znrf3
|
UTSW |
11 |
5,236,239 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5900:Znrf3
|
UTSW |
11 |
5,232,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5988:Znrf3
|
UTSW |
11 |
5,231,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6253:Znrf3
|
UTSW |
11 |
5,230,865 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7057:Znrf3
|
UTSW |
11 |
5,232,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7062:Znrf3
|
UTSW |
11 |
5,231,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7410:Znrf3
|
UTSW |
11 |
5,238,955 (GRCm39) |
missense |
unknown |
|
|
R7881:Znrf3
|
UTSW |
11 |
5,394,533 (GRCm39) |
missense |
unknown |
|
|
R9449:Znrf3
|
UTSW |
11 |
5,288,710 (GRCm39) |
nonsense |
probably null |
|
|
R9468:Znrf3
|
UTSW |
11 |
5,288,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9522:Znrf3
|
UTSW |
11 |
5,232,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Znrf3
|
UTSW |
11 |
5,231,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Znrf3
|
UTSW |
11 |
5,394,465 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9715:Znrf3
|
UTSW |
11 |
5,232,454 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Znrf3
|
UTSW |
11 |
5,236,168 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-12-18 |
Incidental Mutation