Incidental Mutation 'IGL00160:Znrf3'
ID |
1197 |
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 # |
IGL00160
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
5226329-5394847 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5239039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 108
(H108R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109867]
[ENSMUST00000143746]
[ENSMUST00000172492]
|
AlphaFold |
Q5SSZ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109867
AA Change: H204R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105493 Gene: ENSMUSG00000041961 AA Change: H204R
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 damaging
Transcript: ENSMUST00000143746
AA Change: H204R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000122475 Gene: ENSMUSG00000041961 AA Change: H204R
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: H108R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134698 Gene: ENSMUSG00000041961 AA Change: H108R
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
C |
T |
2: 68,563,219 (GRCm39) |
A387V |
probably benign |
Het |
Adamts3 |
C |
T |
5: 90,009,184 (GRCm39) |
V160I |
probably damaging |
Het |
Arhgef26 |
T |
C |
3: 62,247,804 (GRCm39) |
V296A |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,197,706 (GRCm39) |
M893K |
probably benign |
Het |
Camk2d |
T |
A |
3: 126,631,921 (GRCm39) |
C407* |
probably null |
Het |
Ces1h |
T |
C |
8: 94,084,091 (GRCm39) |
D373G |
probably benign |
Het |
Ces2f |
A |
T |
8: 105,676,605 (GRCm39) |
N100Y |
probably damaging |
Het |
Ces2f |
A |
T |
8: 105,676,604 (GRCm39) |
Q99H |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,241,229 (GRCm39) |
T223A |
probably damaging |
Het |
Dnai7 |
T |
A |
6: 145,121,016 (GRCm39) |
H601L |
probably benign |
Het |
Dnmt3l |
A |
G |
10: 77,893,189 (GRCm39) |
D322G |
probably damaging |
Het |
Fam243 |
T |
C |
16: 92,117,890 (GRCm39) |
K133E |
possibly damaging |
Het |
Fbxl20 |
C |
T |
11: 97,981,500 (GRCm39) |
G396D |
possibly damaging |
Het |
Garre1 |
G |
A |
7: 33,938,431 (GRCm39) |
H1035Y |
possibly damaging |
Het |
Gldc |
T |
C |
19: 30,092,640 (GRCm39) |
T760A |
probably damaging |
Het |
Gm6483 |
T |
A |
8: 19,741,663 (GRCm39) |
|
noncoding transcript |
Het |
Hcrtr2 |
A |
T |
9: 76,135,437 (GRCm39) |
V460D |
possibly damaging |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mrgpra2a |
A |
T |
7: 47,076,286 (GRCm39) |
M324K |
probably damaging |
Het |
N4bp3 |
C |
T |
11: 51,536,143 (GRCm39) |
A230T |
probably benign |
Het |
Nphs1 |
T |
G |
7: 30,181,976 (GRCm39) |
W1204G |
possibly damaging |
Het |
Obscn |
C |
A |
11: 58,892,883 (GRCm39) |
A6788S |
probably benign |
Het |
Ofcc1 |
T |
C |
13: 40,296,280 (GRCm39) |
D518G |
probably damaging |
Het |
Optc |
T |
C |
1: 133,829,846 (GRCm39) |
Y188C |
probably damaging |
Het |
Prss45 |
C |
A |
9: 110,670,073 (GRCm39) |
A285E |
probably damaging |
Het |
Rcan2 |
C |
T |
17: 44,347,960 (GRCm39) |
T223I |
possibly damaging |
Het |
Snrnp70 |
A |
G |
7: 45,026,778 (GRCm39) |
|
probably null |
Het |
Sorbs1 |
T |
A |
19: 40,306,473 (GRCm39) |
T1064S |
probably damaging |
Het |
Sptb |
T |
C |
12: 76,669,943 (GRCm39) |
K462E |
probably damaging |
Het |
Sstr1 |
A |
G |
12: 58,259,536 (GRCm39) |
E53G |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,686,354 (GRCm39) |
|
probably null |
Het |
Tex35 |
G |
A |
1: 156,927,326 (GRCm39) |
|
probably benign |
Het |
Thnsl1 |
T |
C |
2: 21,217,260 (GRCm39) |
F338S |
possibly damaging |
Het |
Trpv1 |
C |
T |
11: 73,151,188 (GRCm39) |
A424V |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,693,554 (GRCm39) |
H2535L |
possibly damaging |
Het |
Usp46 |
T |
C |
5: 74,163,347 (GRCm39) |
E333G |
probably null |
Het |
Vmn1r27 |
T |
C |
6: 58,192,119 (GRCm39) |
Y245C |
probably benign |
Het |
Zfp488 |
T |
C |
14: 33,693,026 (GRCm39) |
M46V |
probably benign |
Het |
Zfp566 |
G |
T |
7: 29,777,936 (GRCm39) |
Q82K |
probably benign |
Het |
Znhit6 |
T |
C |
3: 145,283,915 (GRCm39) |
S62P |
probably damaging |
Het |
|
Other mutations in Znrf3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01387:Znrf3
|
APN |
11 |
5,288,656 (GRCm39) |
nonsense |
probably null |
|
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 |
2011-07-12 |