Incidental Mutation 'IGL01387:Znrf3'
| ID |
79082 |
| 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 # |
IGL01387
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5226329-5394847 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 5288656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 37
(C37*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109867]
[ENSMUST00000143746]
[ENSMUST00000172492]
|
| AlphaFold |
Q5SSZ7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109867
AA Change: C133*
|
| SMART Domains |
Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: C133*
| 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 |
probably null
Transcript: ENSMUST00000143746
AA Change: C133*
|
| SMART Domains |
Protein: ENSMUSP00000122475
Gene: ENSMUSG00000041961
AA Change: C133*
| 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 null
Transcript: ENSMUST00000172492
AA Change: C37*
|
| SMART Domains |
Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: C37*
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,835,596 (GRCm39) |
I288T |
possibly damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,247,794 (GRCm39) |
|
probably null |
Het |
| Ano2 |
T |
C |
6: 125,990,240 (GRCm39) |
L787P |
probably damaging |
Het |
| Arf4 |
A |
T |
14: 26,374,300 (GRCm39) |
I73F |
possibly damaging |
Het |
| Atp6v1e1 |
A |
G |
6: 120,772,732 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
A |
C |
7: 16,018,424 (GRCm39) |
M1R |
probably null |
Het |
| Cep162 |
A |
G |
9: 87,093,864 (GRCm39) |
L838S |
probably benign |
Het |
| Cfap251 |
T |
A |
5: 123,421,609 (GRCm39) |
I654N |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,668,562 (GRCm39) |
|
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,927,110 (GRCm39) |
T107A |
probably benign |
Het |
| Erlin2 |
T |
C |
8: 27,526,576 (GRCm39) |
L312P |
probably benign |
Het |
| Etv1 |
T |
G |
12: 38,911,326 (GRCm39) |
M384R |
probably damaging |
Het |
| Exph5 |
G |
T |
9: 53,285,265 (GRCm39) |
S782I |
possibly damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,823,326 (GRCm39) |
N6353S |
possibly damaging |
Het |
| Gk5 |
T |
C |
9: 96,059,607 (GRCm39) |
|
probably null |
Het |
| Gm11168 |
T |
G |
9: 3,005,128 (GRCm39) |
S202R |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,341,310 (GRCm39) |
D1016G |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 69,009,590 (GRCm39) |
|
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,866,096 (GRCm39) |
V387A |
possibly damaging |
Het |
| Or4a76 |
T |
A |
2: 89,460,964 (GRCm39) |
R93* |
probably null |
Het |
| Or5bw2 |
A |
G |
7: 6,573,854 (GRCm39) |
Y288C |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,853,710 (GRCm39) |
M160K |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,617 (GRCm39) |
L115S |
probably damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,594 (GRCm39) |
T153A |
probably benign |
Het |
| Plekhs1 |
A |
G |
19: 56,459,403 (GRCm39) |
Q51R |
probably benign |
Het |
| Rab27b |
T |
A |
18: 70,118,380 (GRCm39) |
D179V |
possibly damaging |
Het |
| Rprd2 |
C |
T |
3: 95,672,631 (GRCm39) |
R924H |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,045,998 (GRCm39) |
I905T |
probably damaging |
Het |
| Trpm8 |
T |
C |
1: 88,271,009 (GRCm39) |
L433P |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,554,649 (GRCm39) |
L1861S |
possibly damaging |
Het |
| Vmn2r124 |
C |
A |
17: 18,283,188 (GRCm39) |
T294K |
probably 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 |
|
IGL02895:Znrf3
|
APN |
11 |
5,239,085 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2013-11-05 |
Incidental Mutation