Incidental Mutation 'R7771:Zpld2'
ID |
598563 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zpld2
|
Ensembl Gene |
ENSMUSG00000073747 |
Gene Name |
zona pellucida like domain containing 2 |
Synonyms |
Gm7534 |
MMRRC Submission |
045827-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R7771 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
133918115-133930315 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 133922754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 526
(N526K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095461
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097849]
|
AlphaFold |
Q3UU21 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097849
AA Change: N526K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000095461 Gene: ENSMUSG00000073747 AA Change: N526K
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 |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,069,535 (GRCm39) |
A1287T |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,992,411 (GRCm39) |
K4565R |
probably damaging |
Het |
Asb13 |
A |
G |
13: 3,699,463 (GRCm39) |
Y221C |
probably damaging |
Het |
BB014433 |
C |
T |
8: 15,092,395 (GRCm39) |
V153M |
probably damaging |
Het |
Brip1 |
T |
C |
11: 85,952,850 (GRCm39) |
E977G |
probably benign |
Het |
C3 |
T |
A |
17: 57,522,797 (GRCm39) |
D1029V |
probably damaging |
Het |
Ccdc116 |
T |
C |
16: 16,957,455 (GRCm39) |
E568G |
probably benign |
Het |
Cdhr2 |
T |
C |
13: 54,866,088 (GRCm39) |
V296A |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,946,702 (GRCm39) |
|
probably null |
Het |
Cnot1 |
A |
G |
8: 96,491,753 (GRCm39) |
V357A |
probably damaging |
Het |
Coa3 |
A |
T |
11: 101,169,641 (GRCm39) |
M38K |
possibly damaging |
Het |
Cyp2d26 |
T |
C |
15: 82,675,947 (GRCm39) |
N255S |
probably benign |
Het |
Cysrt1 |
T |
C |
2: 25,129,237 (GRCm39) |
S92G |
probably benign |
Het |
D030056L22Rik |
A |
G |
19: 18,690,842 (GRCm39) |
E52G |
possibly damaging |
Het |
Derl1 |
T |
C |
15: 57,743,436 (GRCm39) |
D97G |
probably damaging |
Het |
Ebf3 |
A |
G |
7: 136,911,092 (GRCm39) |
Y141H |
probably damaging |
Het |
Eci1 |
T |
A |
17: 24,652,125 (GRCm39) |
L49* |
probably null |
Het |
Gzma |
C |
T |
13: 113,234,829 (GRCm39) |
C54Y |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,291,717 (GRCm39) |
N3403S |
probably damaging |
Het |
Ide |
T |
C |
19: 37,275,525 (GRCm39) |
N495D |
|
Het |
Ighv1-23 |
T |
A |
12: 114,728,356 (GRCm39) |
Q22L |
probably benign |
Het |
Itgb2l |
A |
G |
16: 96,228,172 (GRCm39) |
C444R |
probably damaging |
Het |
Kcnj3 |
C |
A |
2: 55,336,949 (GRCm39) |
H272N |
probably damaging |
Het |
Lrp6 |
C |
T |
6: 134,439,579 (GRCm39) |
C1218Y |
probably damaging |
Het |
Lrrd1 |
T |
C |
5: 3,916,476 (GRCm39) |
M831T |
possibly damaging |
Het |
Map3k11 |
A |
G |
19: 5,740,636 (GRCm39) |
E121G |
probably damaging |
Het |
Mzt1 |
A |
T |
14: 99,278,012 (GRCm39) |
I52N |
probably damaging |
Het |
Or1j11 |
T |
C |
2: 36,312,156 (GRCm39) |
S249P |
possibly damaging |
Het |
Or52z12 |
A |
G |
7: 103,233,297 (GRCm39) |
I23V |
probably benign |
Het |
Or7e166 |
T |
A |
9: 19,624,767 (GRCm39) |
F215I |
probably benign |
Het |
Pcdhb17 |
A |
C |
18: 37,619,962 (GRCm39) |
Y584S |
possibly damaging |
Het |
Per3 |
A |
T |
4: 151,110,657 (GRCm39) |
D380E |
probably damaging |
Het |
Per3 |
A |
T |
4: 151,125,902 (GRCm39) |
L139Q |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,341,047 (GRCm39) |
Y717H |
probably damaging |
Het |
Pik3cg |
T |
C |
12: 32,254,013 (GRCm39) |
H658R |
probably benign |
Het |
Pitpnm3 |
G |
A |
11: 71,952,314 (GRCm39) |
Q626* |
probably null |
Het |
Polr3e |
T |
C |
7: 120,539,801 (GRCm39) |
V542A |
probably benign |
Het |
Rgs22 |
T |
A |
15: 36,050,224 (GRCm39) |
H866L |
possibly damaging |
Het |
Rnf150 |
A |
G |
8: 83,590,832 (GRCm39) |
E65G |
probably benign |
Het |
Sema3f |
C |
A |
9: 107,569,625 (GRCm39) |
R100L |
possibly damaging |
Het |
Skic3 |
A |
G |
13: 76,283,149 (GRCm39) |
H792R |
probably benign |
Het |
Smim18 |
T |
C |
8: 34,232,370 (GRCm39) |
D83G |
possibly damaging |
Het |
Snx13 |
T |
A |
12: 35,174,527 (GRCm39) |
D685E |
probably benign |
Het |
Stat5a |
A |
C |
11: 100,754,045 (GRCm39) |
N125T |
probably benign |
Het |
Stk24 |
T |
C |
14: 121,575,045 (GRCm39) |
E21G |
probably damaging |
Het |
Tasor |
A |
G |
14: 27,189,516 (GRCm39) |
T923A |
probably damaging |
Het |
Tlr3 |
C |
T |
8: 45,856,076 (GRCm39) |
V35I |
probably benign |
Het |
Tmprss11b |
A |
T |
5: 86,809,554 (GRCm39) |
|
probably null |
Het |
Trpm2 |
T |
C |
10: 77,768,013 (GRCm39) |
I829V |
probably benign |
Het |
Ttc39a |
T |
C |
4: 109,288,647 (GRCm39) |
Y276H |
probably damaging |
Het |
Vmn2r98 |
T |
A |
17: 19,287,460 (GRCm39) |
|
probably null |
Het |
Wdr73 |
G |
A |
7: 80,542,975 (GRCm39) |
A211V |
probably benign |
Het |
Zc3h4 |
T |
C |
7: 16,163,824 (GRCm39) |
V673A |
unknown |
Het |
Zfp382 |
A |
G |
7: 29,832,760 (GRCm39) |
H137R |
probably damaging |
Het |
Zp2 |
T |
G |
7: 119,742,865 (GRCm39) |
D89A |
probably damaging |
Het |
Zranb3 |
A |
C |
1: 127,960,605 (GRCm39) |
Y220D |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,763,048 (GRCm39) |
V316I |
probably damaging |
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 |
|
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 |
R9458:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
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'- TATCTCACCACTCAAGGGCCTC -3'
(R):5'- TGAGGGGCTCACTCTTGTTC -3'
Sequencing Primer
(F):5'- GCTTATTCAGGAGTAAGCCCC -3'
(R):5'- GTTCCTCTCTGGATATAGCTCCATC -3'
|
Posted On |
2019-11-26 |