Incidental Mutation 'R1383:Znrf3'
| ID |
163136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Znrf3
|
| Ensembl Gene |
ENSMUSG00000041961 |
| Gene Name |
zinc and ring finger 3 |
| Synonyms |
LOC382477 |
| MMRRC Submission |
039445-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1383 (G1)
|
| Quality Score |
151 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5226329-5394847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 5231994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 410
(F410L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109867]
[ENSMUST00000172492]
|
| AlphaFold |
Q5SSZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109867
AA Change: F506L
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: F506L
| 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: F410L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: F410L
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.5%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asph |
T |
A |
4: 9,537,807 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eef1akmt1 |
A |
G |
14: 57,795,489 (GRCm39) |
|
probably null |
Het |
| Ext2 |
T |
C |
2: 93,636,458 (GRCm39) |
T219A |
possibly damaging |
Het |
| F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,201,599 (GRCm39) |
H492Y |
probably benign |
Het |
| Glyr1 |
GCTGCC |
G |
16: 4,839,209 (GRCm39) |
|
probably null |
Het |
| Kcmf1 |
A |
G |
6: 72,826,565 (GRCm39) |
F155L |
possibly damaging |
Het |
| Miox |
G |
A |
15: 89,219,245 (GRCm39) |
R29Q |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,306 (GRCm39) |
Y529C |
probably damaging |
Het |
| Msmo1 |
G |
A |
8: 65,176,679 (GRCm39) |
T116I |
probably benign |
Het |
| Or4c12 |
A |
T |
2: 89,773,895 (GRCm39) |
M188K |
probably benign |
Het |
| Or5aq1b |
A |
G |
2: 86,902,136 (GRCm39) |
L114P |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,160 (GRCm39) |
K20N |
probably benign |
Het |
| Or8k40 |
C |
T |
2: 86,584,838 (GRCm39) |
M81I |
possibly damaging |
Het |
| Ptpn6 |
A |
G |
6: 124,698,856 (GRCm39) |
I486T |
probably damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,355,357 (GRCm39) |
F58L |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,060,331 (GRCm39) |
I525T |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGTGGAACAGCTCCCATACAC -3'
(R):5'- TGCATAGGACCAATGCCATCCCAG -3'
Sequencing Primer
(F):5'- ATACACACCTTGGTTGCTGAC -3'
(R):5'- CATGGGGAGCAGAACCTCTATTC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation