Incidental Mutation 'R4096:Zpld1'
| ID |
317143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zpld1
|
| Ensembl Gene |
ENSMUSG00000064310 |
| Gene Name |
zona pellucida like domain containing 1 |
| Synonyms |
9430016A21Rik |
| MMRRC Submission |
041629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4096 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55045538-55118349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 55053881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Histidine
at position 304
(D304H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036412]
[ENSMUST00000143914]
|
| AlphaFold |
Q8BGZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036412
AA Change: D304H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000049012
Gene: ENSMUSG00000064310
AA Change: D304H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
ZP
|
43 |
316 |
2.24e-6 |
SMART |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143914
AA Change: D304H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119774
Gene: ENSMUSG00000064310
AA Change: D304H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
ZP
|
43 |
316 |
2.24e-6 |
SMART |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1111 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,120,008 (GRCm39) |
D255G |
possibly damaging |
Het |
| 4930407I10Rik |
G |
A |
15: 81,946,406 (GRCm39) |
G101D |
probably benign |
Het |
| Angpt2 |
G |
A |
8: 18,748,111 (GRCm39) |
A383V |
probably damaging |
Het |
| Cemip2 |
G |
T |
19: 21,770,016 (GRCm39) |
M1I |
probably null |
Het |
| Ctns |
A |
G |
11: 73,077,212 (GRCm39) |
M252T |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,094,264 (GRCm39) |
H2913Q |
probably damaging |
Het |
| Enox1 |
C |
T |
14: 77,815,160 (GRCm39) |
T106M |
probably damaging |
Het |
| Ext1 |
A |
T |
15: 52,936,753 (GRCm39) |
V664E |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,942,024 (GRCm39) |
T306S |
possibly damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,915,583 (GRCm39) |
I610V |
probably benign |
Het |
| Glb1l |
T |
A |
1: 75,186,084 (GRCm39) |
M1L |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,534,259 (GRCm39) |
K3005R |
probably benign |
Het |
| Homer2 |
A |
G |
7: 81,261,052 (GRCm39) |
|
probably null |
Het |
| Il36b |
C |
T |
2: 24,048,826 (GRCm39) |
T77M |
possibly damaging |
Het |
| Kcnq3 |
C |
A |
15: 66,157,664 (GRCm39) |
|
probably null |
Het |
| Mad1l1 |
C |
T |
5: 140,293,428 (GRCm39) |
R130H |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,811,366 (GRCm39) |
E120G |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,537,284 (GRCm39) |
D144G |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,673,034 (GRCm39) |
|
probably benign |
Het |
| Or5m10 |
T |
C |
2: 85,717,767 (GRCm39) |
S208P |
probably damaging |
Het |
| Or7g17 |
T |
C |
9: 18,767,933 (GRCm39) |
I4T |
probably benign |
Het |
| Or9g3 |
T |
C |
2: 85,590,040 (GRCm39) |
I227V |
possibly damaging |
Het |
| Rrp12 |
A |
G |
19: 41,875,587 (GRCm39) |
I252T |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,529,983 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc10a4-ps |
A |
G |
5: 72,743,709 (GRCm39) |
L3P |
probably damaging |
Het |
| Slc28a2b |
A |
G |
2: 122,353,209 (GRCm39) |
Y463C |
probably damaging |
Het |
| Srpk2 |
A |
T |
5: 23,745,500 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,531,147 (GRCm39) |
T214A |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,295,937 (GRCm39) |
E1111G |
unknown |
Het |
|
| Other mutations in Zpld1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01360:Zpld1
|
APN |
16 |
55,046,748 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01380:Zpld1
|
APN |
16 |
55,072,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02089:Zpld1
|
APN |
16 |
55,071,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03350:Zpld1
|
APN |
16 |
55,061,692 (GRCm39) |
splice site |
probably benign |
|
|
whirl
|
UTSW |
16 |
55,053,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Zpld1
|
UTSW |
16 |
55,071,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1296:Zpld1
|
UTSW |
16 |
55,068,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1500:Zpld1
|
UTSW |
16 |
55,053,935 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3712:Zpld1
|
UTSW |
16 |
55,046,799 (GRCm39) |
nonsense |
probably null |
|
|
R4835:Zpld1
|
UTSW |
16 |
55,068,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5153:Zpld1
|
UTSW |
16 |
55,067,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5412:Zpld1
|
UTSW |
16 |
55,052,646 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5527:Zpld1
|
UTSW |
16 |
55,046,725 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5537:Zpld1
|
UTSW |
16 |
55,054,003 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6167:Zpld1
|
UTSW |
16 |
55,053,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6178:Zpld1
|
UTSW |
16 |
55,053,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Zpld1
|
UTSW |
16 |
55,052,603 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6877:Zpld1
|
UTSW |
16 |
55,072,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7165:Zpld1
|
UTSW |
16 |
55,052,594 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7382:Zpld1
|
UTSW |
16 |
55,067,046 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7423:Zpld1
|
UTSW |
16 |
55,054,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:Zpld1
|
UTSW |
16 |
55,047,295 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8377:Zpld1
|
UTSW |
16 |
55,067,017 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9076:Zpld1
|
UTSW |
16 |
55,061,764 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9564:Zpld1
|
UTSW |
16 |
55,061,701 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Zpld1
|
UTSW |
16 |
55,072,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAATCCATGACAGCTTTGC -3'
(R):5'- TGCTTTCCAATGATGCCCTG -3'
Sequencing Primer
(F):5'- AAATCCATGACAGCTTTGCCACTTC -3'
(R):5'- TCCTCAGACCACTGTCAT -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation