Incidental Mutation 'R2884:Znrf3'
ID |
260974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Znrf3
|
Ensembl Gene |
ENSMUSG00000041961 |
Gene Name |
zinc and ring finger 3 |
Synonyms |
LOC382477 |
MMRRC Submission |
040472-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2884 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
5226329-5394847 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5239693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 58
(D58E)
|
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: D154E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105493 Gene: ENSMUSG00000041961 AA Change: D154E
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: D154E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122475 Gene: ENSMUSG00000041961 AA Change: D154E
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: D58E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134698 Gene: ENSMUSG00000041961 AA Change: D58E
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 |
|
Meta Mutation Damage Score |
0.3863 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
G |
T |
8: 120,872,250 (GRCm39) |
E59D |
possibly damaging |
Het |
Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
BC061237 |
A |
G |
14: 44,738,627 (GRCm39) |
R9G |
possibly damaging |
Het |
Brsk1 |
A |
G |
7: 4,694,122 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
G |
T |
13: 113,505,725 (GRCm39) |
A2285S |
probably benign |
Het |
Cspg4b |
A |
T |
13: 113,457,216 (GRCm39) |
Q1087H |
probably damaging |
Het |
Dnajb5 |
A |
T |
4: 42,957,355 (GRCm39) |
D284V |
probably damaging |
Het |
Dnmt3a |
A |
G |
12: 3,946,132 (GRCm39) |
D329G |
probably damaging |
Het |
Ecd |
C |
T |
14: 20,370,841 (GRCm39) |
G626D |
probably damaging |
Het |
Exoc3l4 |
A |
G |
12: 111,394,956 (GRCm39) |
D551G |
possibly damaging |
Het |
Fam227b |
A |
T |
2: 125,942,846 (GRCm39) |
I317N |
probably benign |
Het |
Fam3c |
G |
A |
6: 22,329,581 (GRCm39) |
R49C |
probably damaging |
Het |
Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,848,127 (GRCm39) |
N1779S |
probably benign |
Het |
Gm19965 |
T |
A |
1: 116,749,313 (GRCm39) |
N331K |
probably benign |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
H2ac8 |
A |
G |
13: 23,755,047 (GRCm39) |
I79T |
probably damaging |
Het |
H2-DMa |
A |
G |
17: 34,356,121 (GRCm39) |
N41S |
probably damaging |
Het |
Habp4 |
A |
T |
13: 64,330,080 (GRCm39) |
R328S |
probably benign |
Het |
Hexb |
C |
T |
13: 97,320,208 (GRCm39) |
G272D |
probably damaging |
Het |
Lilrb4a |
A |
T |
10: 51,367,709 (GRCm39) |
N84Y |
probably benign |
Het |
Mtnr1a |
A |
G |
8: 45,540,305 (GRCm39) |
T89A |
probably benign |
Het |
Myh13 |
T |
A |
11: 67,228,469 (GRCm39) |
N336K |
probably benign |
Het |
Naca |
T |
C |
10: 127,877,547 (GRCm39) |
|
probably benign |
Het |
Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
Nprl3 |
A |
G |
11: 32,198,163 (GRCm39) |
L179P |
probably damaging |
Het |
Nup93 |
A |
G |
8: 95,030,266 (GRCm39) |
Y375C |
probably damaging |
Het |
Or52b4 |
A |
G |
7: 102,184,439 (GRCm39) |
I162V |
probably benign |
Het |
Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
Plekhs1 |
G |
A |
19: 56,459,258 (GRCm39) |
G39R |
probably benign |
Het |
Ppp4r3a |
T |
C |
12: 101,034,936 (GRCm39) |
E53G |
probably damaging |
Het |
Prss48 |
A |
T |
3: 85,904,562 (GRCm39) |
M212K |
probably benign |
Het |
Pth |
A |
T |
7: 112,985,235 (GRCm39) |
L46Q |
probably damaging |
Het |
Rin2 |
A |
T |
2: 145,702,911 (GRCm39) |
T536S |
probably benign |
Het |
Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
Stau2 |
A |
T |
1: 16,301,290 (GRCm39) |
F519Y |
possibly damaging |
Het |
Syne2 |
T |
G |
12: 76,010,533 (GRCm39) |
V2481G |
probably benign |
Het |
Tpte |
C |
T |
8: 22,825,439 (GRCm39) |
Q331* |
probably null |
Het |
Ttn |
G |
T |
2: 76,730,596 (GRCm39) |
|
probably benign |
Het |
Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
Vmn2r82 |
A |
G |
10: 79,232,082 (GRCm39) |
I694V |
probably benign |
Het |
Vmn2r88 |
G |
A |
14: 51,651,391 (GRCm39) |
C235Y |
probably damaging |
Het |
Xrn2 |
T |
A |
2: 146,889,576 (GRCm39) |
V653E |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATATGCCTCTCTCAGGTATCATACC -3'
(R):5'- AGCCAGTGACTCATTCCCAC -3'
Sequencing Primer
(F):5'- TACCTGATACTCAAACACAGACAGAG -3'
(R):5'- ACAAAGTAGGTGGCATTGTCTCC -3'
|
Posted On |
2015-01-23 |