Incidental Mutation 'R5606:Zpld2'
ID |
439286 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zpld2
|
Ensembl Gene |
ENSMUSG00000073747 |
Gene Name |
zona pellucida like domain containing 2 |
Synonyms |
Gm7534 |
MMRRC Submission |
043157-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R5606 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
133918115-133930315 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 133927523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 410
(V410G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095461
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097849]
|
AlphaFold |
Q3UU21 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097849
AA Change: V410G
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000095461 Gene: ENSMUSG00000073747 AA Change: V410G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122228
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a7 |
A |
G |
19: 20,699,731 (GRCm39) |
S75P |
probably damaging |
Het |
Ankib1 |
A |
T |
5: 3,751,907 (GRCm39) |
I711N |
probably damaging |
Het |
Ankmy2 |
A |
G |
12: 36,215,920 (GRCm39) |
N40S |
probably benign |
Het |
Armc8 |
T |
C |
9: 99,418,315 (GRCm39) |
K80E |
probably benign |
Het |
Blm |
C |
A |
7: 80,110,580 (GRCm39) |
|
probably null |
Het |
Cand1 |
C |
A |
10: 119,047,359 (GRCm39) |
Q710H |
possibly damaging |
Het |
Ckap2l |
A |
T |
2: 129,127,959 (GRCm39) |
I73N |
probably damaging |
Het |
Ddx27 |
T |
A |
2: 166,861,886 (GRCm39) |
D129E |
probably benign |
Het |
Dnm3 |
T |
C |
1: 162,113,587 (GRCm39) |
E491G |
probably damaging |
Het |
Fgd6 |
C |
A |
10: 93,974,190 (GRCm39) |
Y1310* |
probably null |
Het |
Hnrnph3 |
C |
T |
10: 62,855,222 (GRCm39) |
R21H |
possibly damaging |
Het |
Hs3st4 |
C |
A |
7: 123,996,365 (GRCm39) |
Q344K |
probably damaging |
Het |
Hyal3 |
T |
C |
9: 107,462,265 (GRCm39) |
S100P |
probably benign |
Het |
Map3k19 |
G |
A |
1: 127,750,694 (GRCm39) |
R886C |
probably benign |
Het |
Mmrn2 |
G |
A |
14: 34,119,581 (GRCm39) |
D187N |
probably damaging |
Het |
Myo5c |
G |
A |
9: 75,182,790 (GRCm39) |
A810T |
probably damaging |
Het |
Noxa1 |
T |
A |
2: 24,976,292 (GRCm39) |
E332V |
possibly damaging |
Het |
Or10al7 |
T |
C |
17: 38,365,693 (GRCm39) |
T264A |
probably damaging |
Het |
Or12j5 |
T |
A |
7: 140,083,713 (GRCm39) |
I220F |
probably damaging |
Het |
Or51r1 |
T |
C |
7: 102,228,481 (GRCm39) |
S260P |
probably damaging |
Het |
Or7c70 |
A |
G |
10: 78,683,395 (GRCm39) |
M118T |
probably benign |
Het |
Parg |
T |
A |
14: 31,984,693 (GRCm39) |
V241E |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,610,101 (GRCm39) |
V391D |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,648,108 (GRCm39) |
V421E |
probably benign |
Het |
Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,047,468 (GRCm39) |
H1704L |
probably damaging |
Het |
Tbpl2 |
G |
A |
2: 23,977,245 (GRCm39) |
P258S |
possibly damaging |
Het |
Thoc2l |
T |
C |
5: 104,669,744 (GRCm39) |
I1422T |
probably benign |
Het |
Tlr11 |
T |
C |
14: 50,599,717 (GRCm39) |
C568R |
probably benign |
Het |
Tmem260 |
T |
A |
14: 48,722,437 (GRCm39) |
M324K |
probably damaging |
Het |
Tmprss11g |
T |
A |
5: 86,635,269 (GRCm39) |
T402S |
probably damaging |
Het |
Trim21 |
C |
G |
7: 102,208,813 (GRCm39) |
R302P |
probably damaging |
Het |
Uox |
T |
A |
3: 146,316,057 (GRCm39) |
Y21* |
probably null |
Het |
Vmn1r74 |
A |
G |
7: 11,580,822 (GRCm39) |
M41V |
probably benign |
Het |
Vmn2r59 |
A |
C |
7: 41,695,318 (GRCm39) |
S365A |
probably benign |
Het |
Zfp345 |
A |
T |
2: 150,316,788 (GRCm39) |
Y6* |
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 |
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 |
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'- GTGTCTTGAAATTTGCAGGCAC -3'
(R):5'- TGTTCCTCTGCAGAACTGTC -3'
Sequencing Primer
(F):5'- CTTGAAATTTGCAGGCACAAAGAAC -3'
(R):5'- CTGTCTAGGGAGATAGCAACCCTG -3'
|
Posted On |
2016-10-26 |