Incidental Mutation 'IGL00819:Zpbp2'
| ID |
15051 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zpbp2
|
| Ensembl Gene |
ENSMUSG00000017195 |
| Gene Name |
zona pellucida binding protein 2 |
| Synonyms |
1700017D11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
IGL00819
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98441923-98449491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98448418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 245
(H245L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017339]
[ENSMUST00000081033]
[ENSMUST00000107509]
[ENSMUST00000107511]
[ENSMUST00000107513]
|
| AlphaFold |
Q6X786 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017339
AA Change: H267L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000017339
Gene: ENSMUSG00000017195
AA Change: H267L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Sp38
|
55 |
326 |
9.6e-142 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081033
AA Change: H194L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079822
Gene: ENSMUSG00000017195
AA Change: H194L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Sp38
|
55 |
135 |
2e-35 |
PFAM |
|
Pfam:Sp38
|
134 |
253 |
1.4e-60 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107509
AA Change: H213L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103133
Gene: ENSMUSG00000017195
AA Change: H213L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp38
|
1 |
272 |
1.1e-141 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107511
AA Change: H213L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103135
Gene: ENSMUSG00000017195
AA Change: H213L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp38
|
1 |
272 |
1.1e-141 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107513
AA Change: H245L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103137
Gene: ENSMUSG00000017195
AA Change: H245L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Sp38
|
33 |
304 |
4.5e-142 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126236
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male mice homozygous for a null mutation display reduced fecundity, mild teratozoospermia, and delayed fertilization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
T |
3: 96,590,350 (GRCm39) |
|
probably null |
Het |
| Apaf1 |
G |
T |
10: 90,833,202 (GRCm39) |
|
probably null |
Het |
| Ash1l |
T |
A |
3: 88,915,043 (GRCm39) |
V1891E |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,429,831 (GRCm39) |
S402P |
probably damaging |
Het |
| Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,302,732 (GRCm39) |
N117K |
probably damaging |
Het |
| Ccl7 |
A |
G |
11: 81,937,401 (GRCm39) |
N45S |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,364,176 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,902,843 (GRCm39) |
I169T |
probably benign |
Het |
| Exo1 |
T |
C |
1: 175,723,803 (GRCm39) |
V383A |
probably benign |
Het |
| Fbxl2 |
A |
G |
9: 113,813,047 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,305,451 (GRCm39) |
V106D |
possibly damaging |
Het |
| Fsip1 |
C |
A |
2: 118,080,393 (GRCm39) |
R121L |
possibly damaging |
Het |
| Igsf9 |
T |
C |
1: 172,324,203 (GRCm39) |
S789P |
probably benign |
Het |
| Klf7 |
T |
C |
1: 64,081,476 (GRCm39) |
D284G |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,822,637 (GRCm39) |
|
probably null |
Het |
| Mef2c |
A |
T |
13: 83,773,499 (GRCm39) |
D125V |
probably damaging |
Het |
| Nectin4 |
T |
C |
1: 171,212,254 (GRCm39) |
L284S |
probably damaging |
Het |
| Numa1 |
G |
T |
7: 101,641,917 (GRCm39) |
G122W |
possibly damaging |
Het |
| Pcbd1 |
A |
C |
10: 60,927,919 (GRCm39) |
E27A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,908,860 (GRCm39) |
N5056S |
unknown |
Het |
| Pelp1 |
G |
A |
11: 70,285,444 (GRCm39) |
P808L |
unknown |
Het |
| Ppp1r12a |
T |
C |
10: 108,076,682 (GRCm39) |
S304P |
probably damaging |
Het |
| Ppp1r7 |
T |
A |
1: 93,273,978 (GRCm39) |
D51E |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,751,930 (GRCm39) |
K308E |
probably benign |
Het |
| Rel |
A |
T |
11: 23,693,029 (GRCm39) |
F335I |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,339,660 (GRCm39) |
E153G |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,210,113 (GRCm39) |
Y33H |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Tpra1 |
T |
A |
6: 88,886,318 (GRCm39) |
Y65* |
probably null |
Het |
| Trip12 |
C |
T |
1: 84,731,993 (GRCm39) |
G994S |
probably damaging |
Het |
| Trnt1 |
T |
A |
6: 106,753,183 (GRCm39) |
Y195* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,573,394 (GRCm39) |
I17506T |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,203,593 (GRCm39) |
T4761I |
possibly damaging |
Het |
| Vmn1r204 |
T |
A |
13: 22,741,117 (GRCm39) |
Y249* |
probably null |
Het |
| Zfp212 |
C |
T |
6: 47,908,256 (GRCm39) |
P412S |
probably damaging |
Het |
| Zhx1 |
A |
G |
15: 57,918,090 (GRCm39) |
V52A |
probably benign |
Het |
|
| Other mutations in Zpbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02127:Zpbp2
|
APN |
11 |
98,446,367 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02612:Zpbp2
|
APN |
11 |
98,446,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0709:Zpbp2
|
UTSW |
11 |
98,444,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0959:Zpbp2
|
UTSW |
11 |
98,448,451 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1445:Zpbp2
|
UTSW |
11 |
98,444,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2032:Zpbp2
|
UTSW |
11 |
98,445,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3621:Zpbp2
|
UTSW |
11 |
98,443,382 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4328:Zpbp2
|
UTSW |
11 |
98,448,432 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4685:Zpbp2
|
UTSW |
11 |
98,442,117 (GRCm39) |
intron |
probably benign |
|
|
R4957:Zpbp2
|
UTSW |
11 |
98,442,150 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5395:Zpbp2
|
UTSW |
11 |
98,449,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5455:Zpbp2
|
UTSW |
11 |
98,448,429 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5633:Zpbp2
|
UTSW |
11 |
98,445,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Zpbp2
|
UTSW |
11 |
98,442,236 (GRCm39) |
intron |
probably benign |
|
|
R5837:Zpbp2
|
UTSW |
11 |
98,442,097 (GRCm39) |
start gained |
probably benign |
|
|
R7073:Zpbp2
|
UTSW |
11 |
98,443,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8879:Zpbp2
|
UTSW |
11 |
98,445,446 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9234:Zpbp2
|
UTSW |
11 |
98,443,398 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9348:Zpbp2
|
UTSW |
11 |
98,442,141 (GRCm39) |
intron |
probably benign |
|
|
R9358:Zpbp2
|
UTSW |
11 |
98,444,774 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Posted On |
2012-12-06 |
Incidental Mutation