Incidental Mutation 'R5900:Znrf3'
ID |
456281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Znrf3
|
Ensembl Gene |
ENSMUSG00000041961 |
Gene Name |
zinc and ring finger 3 |
Synonyms |
LOC382477 |
MMRRC Submission |
044099-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5900 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
5226329-5394847 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 5232110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 468
(H468N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109867]
[ENSMUST00000172492]
|
AlphaFold |
Q5SSZ7 |
PDB Structure |
mouse ZNRF3 ectodomain crystal form I [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form II [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form III [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form IV [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form V, disulfide-bridged S90C variant [X-RAY DIFFRACTION]
Mouse ZNRF3 ectodomain in complex with mouse RSPO2 Fu1-Fu2 crystal form I [X-RAY DIFFRACTION]
Mouse ZNRF3 ectodomain in complex with Xenopus RSPO2 Fu1-Fu2 (Seleno Met) crystal form I [X-RAY DIFFRACTION]
Mouse ZNRF3 ectodomain in complex with Xenopus RSPO2 Fu1-Fu2 (Seleno Met) crystal form II [X-RAY DIFFRACTION]
Structure of ZNRF3 ectodomain [X-RAY DIFFRACTION]
Structure of ZNRF3-RSPO1 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109867
AA Change: H468N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105493 Gene: ENSMUSG00000041961 AA Change: H468N
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: ENSMUST00000172492
AA Change: H372N
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134698 Gene: ENSMUSG00000041961 AA Change: H372N
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 |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.9%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,169,982 (GRCm39) |
T1341S |
possibly damaging |
Het |
Abcc12 |
T |
C |
8: 87,293,149 (GRCm39) |
D13G |
possibly damaging |
Het |
Adam24 |
T |
C |
8: 41,134,071 (GRCm39) |
V513A |
probably benign |
Het |
Adgrg6 |
C |
T |
10: 14,314,163 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,617,805 (GRCm39) |
T1995A |
probably benign |
Het |
Apoh |
G |
T |
11: 108,302,843 (GRCm39) |
K269N |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,175,319 (GRCm39) |
L1798F |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,464,597 (GRCm39) |
C1454S |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,531,633 (GRCm39) |
D689G |
possibly damaging |
Het |
Cpa5 |
T |
C |
6: 30,615,115 (GRCm39) |
V84A |
probably damaging |
Het |
Ctsh |
T |
C |
9: 89,946,621 (GRCm39) |
I116T |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,199,515 (GRCm39) |
E1463V |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,046,166 (GRCm39) |
|
probably null |
Het |
Dstyk |
G |
A |
1: 132,384,717 (GRCm39) |
R737Q |
probably damaging |
Het |
Galr1 |
A |
G |
18: 82,411,982 (GRCm39) |
S295P |
probably damaging |
Het |
Gpx2 |
A |
G |
12: 76,839,653 (GRCm39) |
V115A |
probably damaging |
Het |
Hhipl2 |
A |
G |
1: 183,207,597 (GRCm39) |
I219V |
possibly damaging |
Het |
Hkdc1 |
T |
C |
10: 62,244,445 (GRCm39) |
M214V |
possibly damaging |
Het |
Lrfn2 |
T |
C |
17: 49,377,291 (GRCm39) |
V124A |
possibly damaging |
Het |
Lrrcc1 |
T |
G |
3: 14,627,186 (GRCm39) |
S704R |
possibly damaging |
Het |
Marveld2 |
T |
C |
13: 100,748,176 (GRCm39) |
Y301C |
probably damaging |
Het |
Mcpt8 |
T |
C |
14: 56,319,740 (GRCm39) |
I237V |
probably damaging |
Het |
Mtus1 |
A |
T |
8: 41,536,534 (GRCm39) |
V394D |
possibly damaging |
Het |
Ncapd3 |
T |
A |
9: 26,978,265 (GRCm39) |
D821E |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 93,564,156 (GRCm39) |
D1058G |
probably damaging |
Het |
Pld2 |
G |
A |
11: 70,446,888 (GRCm39) |
|
probably null |
Het |
Prdm2 |
A |
G |
4: 142,861,290 (GRCm39) |
S667P |
probably damaging |
Het |
Ptgdr2 |
A |
T |
19: 10,918,352 (GRCm39) |
|
probably null |
Het |
Rfx7 |
C |
T |
9: 72,524,538 (GRCm39) |
T576I |
probably benign |
Het |
Safb |
T |
C |
17: 56,907,349 (GRCm39) |
C426R |
unknown |
Het |
Serpina9 |
G |
A |
12: 103,975,130 (GRCm39) |
R8* |
probably null |
Het |
Shank3 |
G |
A |
15: 89,387,593 (GRCm39) |
R254Q |
probably damaging |
Het |
Simc1 |
T |
C |
13: 54,694,837 (GRCm39) |
V306A |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,621,853 (GRCm39) |
T305A |
probably benign |
Het |
Tdrd5 |
A |
T |
1: 156,105,005 (GRCm39) |
C463* |
probably null |
Het |
Tmem132d |
A |
T |
5: 128,346,336 (GRCm39) |
L62Q |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,220,784 (GRCm39) |
L2507H |
probably damaging |
Het |
Usp45 |
T |
C |
4: 21,830,451 (GRCm39) |
V702A |
probably damaging |
Het |
Wnk2 |
A |
G |
13: 49,256,308 (GRCm39) |
I271T |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,805,125 (GRCm39) |
L2640I |
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 |
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 |
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'- AAGCTAGATGTGCTGCCAC -3'
(R):5'- ACACTGCTAACCATGGACCG -3'
Sequencing Primer
(F):5'- ACTCTCCACGTGGGTTGGAG -3'
(R):5'- ATGGGGAGCAGAACCTCTATTCTC -3'
|
Posted On |
2017-02-15 |