Incidental Mutation 'R3621:Zpbp2'
| ID |
268641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zpbp2
|
| Ensembl Gene |
ENSMUSG00000017195 |
| Gene Name |
zona pellucida binding protein 2 |
| Synonyms |
1700017D11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R3621 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98441923-98449491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98443382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 18
(T18A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017339]
[ENSMUST00000081033]
[ENSMUST00000107509]
[ENSMUST00000107511]
[ENSMUST00000107513]
|
| AlphaFold |
Q6X786 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017339
AA Change: T72A
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000017339
Gene: ENSMUSG00000017195
AA Change: T72A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Sp38
|
55 |
326 |
9.6e-142 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081033
AA Change: T72A
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000079822
Gene: ENSMUSG00000017195
AA Change: T72A
| 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 benign
Transcript: ENSMUST00000107509
AA Change: T18A
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103133
Gene: ENSMUSG00000017195
AA Change: T18A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp38
|
1 |
272 |
1.1e-141 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107511
AA Change: T18A
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103135
Gene: ENSMUSG00000017195
AA Change: T18A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp38
|
1 |
272 |
1.1e-141 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107513
AA Change: T50A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103137
Gene: ENSMUSG00000017195
AA Change: T50A
| 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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,140,735 (GRCm39) |
S161P |
probably damaging |
Het |
| Atp8a2 |
C |
A |
14: 60,263,587 (GRCm39) |
|
probably null |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,042,684 (GRCm39) |
S2350G |
probably benign |
Het |
| Enpp6 |
T |
C |
8: 47,518,540 (GRCm39) |
W223R |
probably benign |
Het |
| Erich3 |
T |
C |
3: 154,454,369 (GRCm39) |
Y515H |
possibly damaging |
Het |
| Fam118a |
T |
C |
15: 84,930,002 (GRCm39) |
F77L |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,810,602 (GRCm39) |
T2307K |
probably benign |
Het |
| Gcg |
T |
C |
2: 62,307,279 (GRCm39) |
E94G |
probably damaging |
Het |
| Hdc |
T |
A |
2: 126,458,187 (GRCm39) |
Y45F |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspa8 |
A |
T |
9: 40,713,219 (GRCm39) |
M1L |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,413,014 (GRCm39) |
V179M |
probably damaging |
Het |
| Mettl4 |
T |
C |
17: 95,042,936 (GRCm39) |
Y300C |
probably damaging |
Het |
| Or7d10 |
T |
C |
9: 19,832,209 (GRCm39) |
Y235H |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
| Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,185,222 (GRCm39) |
F111L |
probably damaging |
Het |
| Tep1 |
G |
A |
14: 51,066,477 (GRCm39) |
R2328C |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
| Timd2 |
G |
A |
11: 46,569,040 (GRCm39) |
T206I |
probably benign |
Het |
| Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
probably benign |
Het |
|
| Other mutations in Zpbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Zpbp2
|
APN |
11 |
98,448,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGGTATCATTGTCTAGGAGTG -3'
(R):5'- AGAACTTAAGTCATGGGCCAAG -3'
Sequencing Primer
(F):5'- ATCATTGTCTAGGAGTGTGTGTGTC -3'
(R):5'- GGATTGCCCACTGTTTAAGAGCAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation