Incidental Mutation 'IGL01959:Zp3r'
ID |
182333 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zp3r
|
Ensembl Gene |
ENSMUSG00000042554 |
Gene Name |
zona pellucida 3 receptor |
Synonyms |
SP56 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
IGL01959
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
130504450-130557358 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 130519188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 253
(K253*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118784
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039862]
[ENSMUST00000128128]
[ENSMUST00000142416]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000039862
AA Change: K318*
|
SMART Domains |
Protein: ENSMUSP00000045443 Gene: ENSMUSG00000042554 AA Change: K318*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
CCP
|
34 |
91 |
2.52e-7 |
SMART |
CCP
|
96 |
153 |
3.17e-13 |
SMART |
CCP
|
158 |
218 |
8.23e-12 |
SMART |
CCP
|
223 |
278 |
1.77e-11 |
SMART |
CCP
|
283 |
345 |
5.32e-6 |
SMART |
CCP
|
350 |
411 |
3.67e-9 |
SMART |
CCP
|
456 |
509 |
6.95e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082461
|
Predicted Effect |
probably null
Transcript: ENSMUST00000128128
AA Change: K274*
|
SMART Domains |
Protein: ENSMUSP00000114401 Gene: ENSMUSG00000042554 AA Change: K274*
Domain | Start | End | E-Value | Type |
CCP
|
55 |
112 |
2.52e-7 |
SMART |
CCP
|
117 |
174 |
3.17e-13 |
SMART |
CCP
|
179 |
234 |
1.77e-11 |
SMART |
CCP
|
239 |
301 |
5.32e-6 |
SMART |
CCP
|
306 |
367 |
3.67e-9 |
SMART |
CCP
|
412 |
465 |
6.95e-10 |
SMART |
PDB:4B0F|G
|
468 |
513 |
8e-8 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142416
AA Change: K253*
|
SMART Domains |
Protein: ENSMUSP00000118784 Gene: ENSMUSG00000042554 AA Change: K253*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
CCP
|
34 |
91 |
2.52e-7 |
SMART |
CCP
|
96 |
153 |
3.17e-13 |
SMART |
CCP
|
158 |
213 |
1.77e-11 |
SMART |
CCP
|
218 |
280 |
5.32e-6 |
SMART |
CCP
|
285 |
346 |
3.67e-9 |
SMART |
CCP
|
391 |
444 |
6.95e-10 |
SMART |
PDB:4B0F|G
|
447 |
492 |
8e-8 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and sperm morphology and physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230009I02Rik |
T |
C |
11: 50,982,645 (GRCm39) |
|
noncoding transcript |
Het |
Aip |
A |
G |
19: 4,171,397 (GRCm39) |
I13T |
probably damaging |
Het |
Cacna2d1 |
C |
T |
5: 16,417,895 (GRCm39) |
P140S |
probably benign |
Het |
Cald1 |
A |
G |
6: 34,730,403 (GRCm39) |
D40G |
probably damaging |
Het |
Cep250 |
T |
A |
2: 155,825,279 (GRCm39) |
V1052E |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 15,962,435 (GRCm39) |
N731D |
probably damaging |
Het |
Chml |
C |
T |
1: 175,515,166 (GRCm39) |
V252I |
probably benign |
Het |
Cog8 |
T |
C |
8: 107,783,010 (GRCm39) |
Y93C |
probably damaging |
Het |
Creld1 |
G |
A |
6: 113,469,794 (GRCm39) |
A399T |
probably damaging |
Het |
Cyp2a4 |
T |
A |
7: 26,007,133 (GRCm39) |
V80E |
probably damaging |
Het |
Cyp2c37 |
T |
A |
19: 39,984,277 (GRCm39) |
L255* |
probably null |
Het |
Cyp2d12 |
C |
A |
15: 82,439,545 (GRCm39) |
|
probably benign |
Het |
Dimt1 |
A |
G |
13: 107,089,963 (GRCm39) |
I229V |
probably benign |
Het |
Dsc1 |
G |
A |
18: 20,230,282 (GRCm39) |
T341I |
probably damaging |
Het |
Ercc3 |
T |
A |
18: 32,390,411 (GRCm39) |
F567I |
probably damaging |
Het |
Espl1 |
C |
A |
15: 102,214,097 (GRCm39) |
|
probably benign |
Het |
Fcrl2 |
T |
C |
3: 87,166,939 (GRCm39) |
D18G |
probably damaging |
Het |
Fnip1 |
T |
A |
11: 54,381,738 (GRCm39) |
S296R |
possibly damaging |
Het |
Fzd5 |
C |
A |
1: 64,775,105 (GRCm39) |
A219S |
possibly damaging |
Het |
Gbp7 |
A |
G |
3: 142,247,108 (GRCm39) |
|
probably benign |
Het |
Gm3298 |
T |
C |
14: 5,018,731 (GRCm38) |
L162S |
probably damaging |
Het |
Hspa1l |
A |
G |
17: 35,196,111 (GRCm39) |
E50G |
probably damaging |
Het |
Ipo9 |
T |
C |
1: 135,348,093 (GRCm39) |
|
probably null |
Het |
Kazn |
A |
G |
4: 141,878,195 (GRCm39) |
L185P |
probably damaging |
Het |
Kcnh8 |
T |
C |
17: 53,141,635 (GRCm39) |
S293P |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,202,539 (GRCm39) |
T1191A |
probably damaging |
Het |
Mnat1 |
A |
G |
12: 73,228,705 (GRCm39) |
|
probably benign |
Het |
Msx2 |
C |
T |
13: 53,622,638 (GRCm39) |
|
probably benign |
Het |
Ndufs2 |
T |
G |
1: 171,064,798 (GRCm39) |
I317L |
probably benign |
Het |
Nms |
T |
C |
1: 38,981,006 (GRCm39) |
|
probably benign |
Het |
Oosp3 |
T |
A |
19: 11,678,286 (GRCm39) |
F87L |
probably benign |
Het |
Pask |
A |
G |
1: 93,262,329 (GRCm39) |
V177A |
probably benign |
Het |
Poldip2 |
G |
T |
11: 78,403,133 (GRCm39) |
|
probably benign |
Het |
Prr14l |
A |
T |
5: 32,987,549 (GRCm39) |
S649T |
possibly damaging |
Het |
Slc6a18 |
T |
A |
13: 73,825,984 (GRCm39) |
N22I |
probably damaging |
Het |
Smco2 |
T |
A |
6: 146,763,208 (GRCm39) |
S228T |
probably benign |
Het |
Speer4a1 |
G |
A |
5: 26,240,902 (GRCm39) |
Q197* |
probably null |
Het |
Speg |
A |
G |
1: 75,367,734 (GRCm39) |
K641R |
probably damaging |
Het |
Strip2 |
G |
A |
6: 29,928,553 (GRCm39) |
V286M |
probably damaging |
Het |
Tnfrsf22 |
C |
T |
7: 143,197,012 (GRCm39) |
|
probably null |
Het |
Tnpo3 |
A |
G |
6: 29,589,019 (GRCm39) |
|
probably benign |
Het |
Top2b |
T |
A |
14: 16,422,695 (GRCm38) |
N1377K |
probably benign |
Het |
Trmt1 |
T |
A |
8: 85,418,005 (GRCm39) |
|
probably null |
Het |
Trpm1 |
A |
G |
7: 63,858,723 (GRCm39) |
M266V |
possibly damaging |
Het |
Vmn1r199 |
A |
G |
13: 22,567,290 (GRCm39) |
T195A |
probably benign |
Het |
Vmn2r10 |
A |
G |
5: 109,145,571 (GRCm39) |
V512A |
probably benign |
Het |
Zfp777 |
A |
G |
6: 48,021,275 (GRCm39) |
F116L |
probably benign |
Het |
|
Other mutations in Zp3r |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01352:Zp3r
|
APN |
1 |
130,547,093 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01783:Zp3r
|
APN |
1 |
130,526,603 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL01820:Zp3r
|
APN |
1 |
130,526,657 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01978:Zp3r
|
APN |
1 |
130,526,678 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02232:Zp3r
|
APN |
1 |
130,524,404 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02290:Zp3r
|
APN |
1 |
130,547,102 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02878:Zp3r
|
APN |
1 |
130,510,588 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02960:Zp3r
|
APN |
1 |
130,511,175 (GRCm39) |
missense |
possibly damaging |
0.67 |
BB006:Zp3r
|
UTSW |
1 |
130,519,217 (GRCm39) |
missense |
probably benign |
0.31 |
BB016:Zp3r
|
UTSW |
1 |
130,519,217 (GRCm39) |
missense |
probably benign |
0.31 |
PIT4403001:Zp3r
|
UTSW |
1 |
130,510,609 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0433:Zp3r
|
UTSW |
1 |
130,504,870 (GRCm39) |
splice site |
probably benign |
|
R0491:Zp3r
|
UTSW |
1 |
130,546,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R0781:Zp3r
|
UTSW |
1 |
130,505,621 (GRCm39) |
critical splice donor site |
probably null |
|
R1110:Zp3r
|
UTSW |
1 |
130,505,621 (GRCm39) |
critical splice donor site |
probably null |
|
R1126:Zp3r
|
UTSW |
1 |
130,546,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R1295:Zp3r
|
UTSW |
1 |
130,519,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R1680:Zp3r
|
UTSW |
1 |
130,510,617 (GRCm39) |
missense |
probably benign |
0.15 |
R1728:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1728:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1729:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1730:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1739:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1762:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1783:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1784:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Zp3r
|
UTSW |
1 |
130,524,551 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Zp3r
|
UTSW |
1 |
130,547,151 (GRCm39) |
missense |
possibly damaging |
0.68 |
R3942:Zp3r
|
UTSW |
1 |
130,504,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4429:Zp3r
|
UTSW |
1 |
130,519,128 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4571:Zp3r
|
UTSW |
1 |
130,505,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R4626:Zp3r
|
UTSW |
1 |
130,542,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R4647:Zp3r
|
UTSW |
1 |
130,505,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Zp3r
|
UTSW |
1 |
130,510,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R4815:Zp3r
|
UTSW |
1 |
130,526,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R5355:Zp3r
|
UTSW |
1 |
130,524,518 (GRCm39) |
missense |
probably benign |
0.09 |
R5554:Zp3r
|
UTSW |
1 |
130,511,208 (GRCm39) |
missense |
probably benign |
0.42 |
R5629:Zp3r
|
UTSW |
1 |
130,510,616 (GRCm39) |
missense |
probably damaging |
0.99 |
R6154:Zp3r
|
UTSW |
1 |
130,526,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R6173:Zp3r
|
UTSW |
1 |
130,519,305 (GRCm39) |
splice site |
probably null |
|
R6949:Zp3r
|
UTSW |
1 |
130,505,632 (GRCm39) |
missense |
probably benign |
0.00 |
R7346:Zp3r
|
UTSW |
1 |
130,511,217 (GRCm39) |
missense |
probably benign |
0.02 |
R7399:Zp3r
|
UTSW |
1 |
130,504,790 (GRCm39) |
missense |
probably damaging |
0.98 |
R7929:Zp3r
|
UTSW |
1 |
130,519,217 (GRCm39) |
missense |
probably benign |
0.31 |
R7944:Zp3r
|
UTSW |
1 |
130,524,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R7945:Zp3r
|
UTSW |
1 |
130,524,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R8367:Zp3r
|
UTSW |
1 |
130,526,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R8742:Zp3r
|
UTSW |
1 |
130,511,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |