Incidental Mutation 'R9458:Zpld2'
| ID |
714703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zpld2
|
| Ensembl Gene |
ENSMUSG00000073747 |
| Gene Name |
zona pellucida like domain containing 2 |
| Synonyms |
Gm7534 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R9458 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133918115-133930315 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 133929312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 331
(P331L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097849]
|
| AlphaFold |
Q3UU21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097849
AA Change: P331L
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: P331L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
21 |
111 |
5.47e-40 |
PROSPERO |
|
low complexity region
|
112 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
177 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
181 |
271 |
5.47e-40 |
PROSPERO |
|
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
|
ZP
|
368 |
618 |
3.21e-13 |
SMART |
|
low complexity region
|
650 |
668 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010K14Rik |
T |
C |
11: 70,127,731 (GRCm39) |
I64V |
possibly damaging |
Het |
| 4921539E11Rik |
T |
A |
4: 103,141,608 (GRCm39) |
I18L |
possibly damaging |
Het |
| Arcn1 |
A |
G |
9: 44,671,267 (GRCm39) |
S87P |
probably damaging |
Het |
| Bmp7 |
G |
A |
2: 172,721,268 (GRCm39) |
P269L |
possibly damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,856,709 (GRCm38) |
F467L |
|
Het |
| Clrn2 |
A |
T |
5: 45,617,513 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Col2a1 |
G |
A |
15: 97,876,242 (GRCm39) |
R1192C |
unknown |
Het |
| Col6a6 |
A |
G |
9: 105,586,361 (GRCm39) |
F1887L |
probably benign |
Het |
| Crocc2 |
G |
T |
1: 93,145,516 (GRCm39) |
A1466S |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,049,777 (GRCm39) |
N4313D |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,148,785 (GRCm39) |
E298G |
probably damaging |
Het |
| Eif2b4 |
C |
A |
5: 31,350,609 (GRCm39) |
|
probably benign |
Het |
| Emx1 |
T |
A |
6: 85,181,042 (GRCm39) |
V253D |
probably damaging |
Het |
| Enah |
A |
T |
1: 181,746,107 (GRCm39) |
S654R |
unknown |
Het |
| F2 |
A |
T |
2: 91,461,113 (GRCm39) |
N207K |
probably benign |
Het |
| Flcn |
G |
T |
11: 59,690,208 (GRCm39) |
D281E |
possibly damaging |
Het |
| Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,235,043 (GRCm39) |
N226S |
probably benign |
Het |
| Igfbp6 |
A |
G |
15: 102,057,634 (GRCm39) |
N205S |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,743,407 (GRCm39) |
L1655P |
probably damaging |
Het |
| Mndal |
A |
G |
1: 173,687,749 (GRCm39) |
F495S |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 88,952,057 (GRCm39) |
K175E |
possibly damaging |
Het |
| Panx2 |
A |
C |
15: 88,952,058 (GRCm39) |
K175T |
probably damaging |
Het |
| Pde6a |
A |
T |
18: 61,387,477 (GRCm39) |
Y456F |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,738,995 (GRCm39) |
L22P |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,659,247 (GRCm39) |
I83T |
probably damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,296 (GRCm39) |
D52G |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,759,557 (GRCm39) |
S102P |
possibly damaging |
Het |
| Slc7a2 |
T |
G |
8: 41,352,330 (GRCm39) |
I131S |
probably damaging |
Het |
| Snupn |
A |
T |
9: 56,890,039 (GRCm39) |
I287F |
possibly damaging |
Het |
| Synj1 |
T |
G |
16: 90,766,200 (GRCm39) |
I573L |
probably benign |
Het |
| Tmcc2 |
T |
G |
1: 132,286,747 (GRCm39) |
D568A |
probably damaging |
Het |
| Tmf1 |
G |
T |
6: 97,153,382 (GRCm39) |
H230Q |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,024,246 (GRCm39) |
V810A |
possibly damaging |
Het |
| Vmn1r169 |
T |
C |
7: 23,276,628 (GRCm39) |
S7P |
possibly damaging |
Het |
| Vwce |
A |
G |
19: 10,631,688 (GRCm39) |
T550A |
possibly damaging |
Het |
| Zbtb12 |
T |
C |
17: 35,115,367 (GRCm39) |
V384A |
possibly damaging |
Het |
| Zscan20 |
T |
C |
4: 128,480,639 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zpld2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02183:Zpld2
|
APN |
4 |
133,929,291 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03170:Zpld2
|
APN |
4 |
133,920,345 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
FR4342:Zpld2
|
UTSW |
4 |
133,929,942 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Zpld2
|
UTSW |
4 |
133,929,941 (GRCm39) |
small insertion |
probably benign |
|
|
R0487:Zpld2
|
UTSW |
4 |
133,930,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0530:Zpld2
|
UTSW |
4 |
133,930,221 (GRCm39) |
missense |
probably benign |
|
|
R0553:Zpld2
|
UTSW |
4 |
133,929,829 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1121:Zpld2
|
UTSW |
4 |
133,930,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1458:Zpld2
|
UTSW |
4 |
133,924,144 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1748:Zpld2
|
UTSW |
4 |
133,929,430 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1748:Zpld2
|
UTSW |
4 |
133,927,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Zpld2
|
UTSW |
4 |
133,919,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2029:Zpld2
|
UTSW |
4 |
133,929,669 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2069:Zpld2
|
UTSW |
4 |
133,929,252 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2237:Zpld2
|
UTSW |
4 |
133,929,516 (GRCm39) |
missense |
unknown |
|
|
R2239:Zpld2
|
UTSW |
4 |
133,929,516 (GRCm39) |
missense |
unknown |
|
|
R3943:Zpld2
|
UTSW |
4 |
133,927,656 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4646:Zpld2
|
UTSW |
4 |
133,929,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4673:Zpld2
|
UTSW |
4 |
133,927,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4838:Zpld2
|
UTSW |
4 |
133,920,410 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5002:Zpld2
|
UTSW |
4 |
133,924,231 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5593:Zpld2
|
UTSW |
4 |
133,920,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5606:Zpld2
|
UTSW |
4 |
133,927,523 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6553:Zpld2
|
UTSW |
4 |
133,929,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6834:Zpld2
|
UTSW |
4 |
133,920,476 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6931:Zpld2
|
UTSW |
4 |
133,920,464 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7526:Zpld2
|
UTSW |
4 |
133,927,384 (GRCm39) |
splice site |
probably null |
|
|
R7771:Zpld2
|
UTSW |
4 |
133,922,754 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8271:Zpld2
|
UTSW |
4 |
133,930,278 (GRCm39) |
missense |
unknown |
|
|
R8725:Zpld2
|
UTSW |
4 |
133,930,150 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8727:Zpld2
|
UTSW |
4 |
133,930,150 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8757:Zpld2
|
UTSW |
4 |
133,930,282 (GRCm39) |
missense |
unknown |
|
|
R8966:Zpld2
|
UTSW |
4 |
133,929,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8992:Zpld2
|
UTSW |
4 |
133,929,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9039:Zpld2
|
UTSW |
4 |
133,922,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9275:Zpld2
|
UTSW |
4 |
133,922,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Zpld2
|
UTSW |
4 |
133,922,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9434:Zpld2
|
UTSW |
4 |
133,929,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9460:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9461:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9480:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9481:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9551:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9552:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9553:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
RF015:Zpld2
|
UTSW |
4 |
133,920,338 (GRCm39) |
missense |
probably benign |
|
|
T0975:Zpld2
|
UTSW |
4 |
133,929,940 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Zpld2
|
UTSW |
4 |
133,929,988 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Zpld2
|
UTSW |
4 |
133,927,649 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCCCGGCCATTTATCTG -3'
(R):5'- CACAACAATGAGTATGTCACCTG -3'
Sequencing Primer
(F):5'- GTGTTACTCCATGTTATCCATACAC -3'
(R):5'- GTCACCTGACACACACCACAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation