Incidental Mutation 'R5002:Zpld2'
ID |
389984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zpld2
|
Ensembl Gene |
ENSMUSG00000073747 |
Gene Name |
zona pellucida like domain containing 2 |
Synonyms |
Gm7534 |
MMRRC Submission |
042596-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R5002 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
133918115-133930315 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 133924231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 438
(N438I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095461
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097849]
|
AlphaFold |
Q3UU21 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097849
AA Change: N438I
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000095461 Gene: ENSMUSG00000073747 AA Change: N438I
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
94% (44/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,852,623 (GRCm39) |
P736S |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,470,668 (GRCm39) |
I523T |
possibly damaging |
Het |
Casq1 |
T |
A |
1: 172,040,945 (GRCm39) |
D281V |
possibly damaging |
Het |
Catsperb |
T |
C |
12: 101,486,813 (GRCm39) |
F447L |
probably benign |
Het |
Cenpe |
A |
T |
3: 134,952,842 (GRCm39) |
M1511L |
probably benign |
Het |
Cep128 |
T |
C |
12: 91,222,497 (GRCm39) |
|
probably null |
Het |
Col6a6 |
T |
C |
9: 105,663,292 (GRCm39) |
T82A |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,786,621 (GRCm39) |
D123G |
probably damaging |
Het |
Ergic2 |
A |
G |
6: 148,085,656 (GRCm39) |
I281T |
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,785,528 (GRCm39) |
|
probably null |
Het |
Filip1l |
T |
C |
16: 57,391,466 (GRCm39) |
Y447H |
probably benign |
Het |
Flnb |
T |
A |
14: 7,945,882 (GRCm38) |
M2429K |
probably damaging |
Het |
Fn1 |
T |
A |
1: 71,668,887 (GRCm39) |
Q686L |
possibly damaging |
Het |
Gm10644 |
T |
C |
8: 84,660,216 (GRCm39) |
D43G |
possibly damaging |
Het |
Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
Gpx6 |
A |
G |
13: 21,497,858 (GRCm39) |
Y43C |
probably damaging |
Het |
Hhat |
A |
T |
1: 192,225,498 (GRCm39) |
F494I |
probably benign |
Het |
Itga9 |
C |
A |
9: 118,492,966 (GRCm39) |
S287* |
probably null |
Het |
Lrrk1 |
C |
A |
7: 65,982,111 (GRCm39) |
G177W |
probably damaging |
Het |
Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
Ms4a14 |
T |
C |
19: 11,281,653 (GRCm39) |
I302V |
probably benign |
Het |
Nepn |
A |
C |
10: 52,267,850 (GRCm39) |
M39L |
probably benign |
Het |
Nfil3 |
C |
A |
13: 53,122,712 (GRCm39) |
R64L |
probably damaging |
Het |
Ociad1 |
T |
C |
5: 73,467,659 (GRCm39) |
V199A |
possibly damaging |
Het |
Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
Or8k3b |
C |
A |
2: 86,520,429 (GRCm39) |
V297L |
possibly damaging |
Het |
Polk |
A |
G |
13: 96,625,752 (GRCm39) |
Y431H |
probably damaging |
Het |
Prss33 |
C |
T |
17: 24,054,332 (GRCm39) |
|
probably benign |
Het |
Semp2l2b |
G |
C |
10: 21,943,716 (GRCm39) |
P88R |
probably damaging |
Het |
Slc12a7 |
A |
G |
13: 73,911,896 (GRCm39) |
N4S |
possibly damaging |
Het |
Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
Smarce1 |
T |
C |
11: 99,115,889 (GRCm39) |
N44S |
probably damaging |
Het |
Spast |
C |
T |
17: 74,676,221 (GRCm39) |
Q344* |
probably null |
Het |
Stk11ip |
C |
A |
1: 75,509,187 (GRCm39) |
|
probably benign |
Het |
Tas2r131 |
T |
C |
6: 132,934,114 (GRCm39) |
I232V |
probably benign |
Het |
Tesk1 |
T |
C |
4: 43,444,573 (GRCm39) |
Y126H |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,999,976 (GRCm39) |
V164A |
possibly damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vwc2l |
T |
G |
1: 70,768,205 (GRCm39) |
C43G |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,914,924 (GRCm39) |
T1626I |
probably benign |
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 |
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 |
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'- AATGAGAACTCAGGGTGGCC -3'
(R):5'- GCTCCGTTTTAAGAGAAGGAAC -3'
Sequencing Primer
(F):5'- CCAGGGCTTAGCTGCAG -3'
(R):5'- AACTTAGGACCCATGGCGTG -3'
|
Posted On |
2016-06-06 |