Incidental Mutation 'R4535:Plcd4'
| ID |
333272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd4
|
| Ensembl Gene |
ENSMUSG00000026173 |
| Gene Name |
phospholipase C, delta 4 |
| Synonyms |
4921507K24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4535 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74581175-74605137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74602627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 594
(T594A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027315]
[ENSMUST00000027362]
[ENSMUST00000066986]
[ENSMUST00000067916]
[ENSMUST00000113737]
[ENSMUST00000113747]
[ENSMUST00000113749]
[ENSMUST00000113750]
[ENSMUST00000141412]
[ENSMUST00000127921]
[ENSMUST00000152707]
[ENSMUST00000156613]
|
| AlphaFold |
Q8K3R3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027315
|
| SMART Domains |
Protein: ENSMUSP00000027315
Gene: ENSMUSG00000026135
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
103 |
127 |
1.16e1 |
SMART |
|
ZnF_C2H2
|
164 |
186 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
193 |
218 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
223 |
247 |
2.29e0 |
SMART |
|
ZnF_C2H2
|
250 |
272 |
9.96e-1 |
SMART |
|
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
363 |
385 |
9.96e-1 |
SMART |
|
ZnF_C2H2
|
391 |
411 |
1.26e1 |
SMART |
|
ZnF_C2H2
|
419 |
442 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
486 |
511 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
516 |
540 |
4.81e0 |
SMART |
|
ZnF_C2H2
|
543 |
566 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
572 |
595 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
601 |
623 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
629 |
651 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
657 |
679 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
685 |
707 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
712 |
735 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
744 |
767 |
1.31e0 |
SMART |
|
ZnF_C2H2
|
773 |
796 |
2.63e0 |
SMART |
|
low complexity region
|
903 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
953 |
969 |
N/A |
INTRINSIC |
|
low complexity region
|
996 |
1007 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1039 |
1059 |
2.01e1 |
SMART |
|
ZnF_C2H2
|
1069 |
1089 |
1.91e1 |
SMART |
|
low complexity region
|
1147 |
1160 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1187 |
1207 |
2.7e2 |
SMART |
|
low complexity region
|
1209 |
1222 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1265 |
1285 |
3.56e1 |
SMART |
|
ZnF_C2H2
|
1295 |
1318 |
4.98e-1 |
SMART |
|
ZnF_C2H2
|
1331 |
1354 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
1360 |
1382 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
1388 |
1411 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
1417 |
1440 |
6.75e0 |
SMART |
|
ZnF_C2H2
|
1446 |
1469 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
1488 |
1511 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
1514 |
1536 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
1540 |
1563 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
1580 |
1602 |
4.45e0 |
SMART |
|
ZnF_C2H2
|
1608 |
1630 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
1636 |
1658 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
1664 |
1686 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
1692 |
1715 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
1721 |
1743 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
1749 |
1771 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
1777 |
1799 |
3.52e-1 |
SMART |
|
low complexity region
|
1829 |
1838 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027362
AA Change: T626A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: T626A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
PLCYc
|
538 |
654 |
1.26e-75 |
SMART |
|
C2
|
673 |
779 |
5.68e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066986
|
| SMART Domains |
Protein: ENSMUSP00000065149
Gene: ENSMUSG00000026135
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
116 |
128 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
162 |
184 |
9.96e-1 |
SMART |
|
ZnF_C2H2
|
190 |
210 |
1.26e1 |
SMART |
|
ZnF_C2H2
|
218 |
241 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
252 |
274 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
285 |
310 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
315 |
339 |
4.81e0 |
SMART |
|
ZnF_C2H2
|
342 |
365 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
371 |
394 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
400 |
422 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
428 |
450 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
456 |
478 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
484 |
506 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
511 |
534 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
543 |
566 |
1.31e0 |
SMART |
|
ZnF_C2H2
|
572 |
595 |
2.63e0 |
SMART |
|
low complexity region
|
702 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
768 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
806 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
838 |
858 |
2.01e1 |
SMART |
|
ZnF_C2H2
|
868 |
888 |
1.91e1 |
SMART |
|
low complexity region
|
946 |
959 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
986 |
1006 |
2.7e2 |
SMART |
|
low complexity region
|
1008 |
1021 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1064 |
1084 |
3.56e1 |
SMART |
|
ZnF_C2H2
|
1094 |
1117 |
4.98e-1 |
SMART |
|
ZnF_C2H2
|
1130 |
1153 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
1159 |
1181 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
1187 |
1210 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
1216 |
1239 |
6.75e0 |
SMART |
|
ZnF_C2H2
|
1245 |
1268 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
1287 |
1310 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
1313 |
1335 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
1339 |
1362 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
1379 |
1401 |
4.45e0 |
SMART |
|
ZnF_C2H2
|
1407 |
1429 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
1435 |
1457 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
1463 |
1485 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
1491 |
1514 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
1520 |
1542 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
1548 |
1570 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
1576 |
1598 |
3.52e-1 |
SMART |
|
low complexity region
|
1628 |
1637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067916
AA Change: T594A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: T594A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
|
C2
|
641 |
747 |
5.68e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113737
|
| SMART Domains |
Protein: ENSMUSP00000109366
Gene: ENSMUSG00000026135
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
93 |
115 |
9.81e1 |
SMART |
|
ZnF_C2H2
|
120 |
144 |
2.29e0 |
SMART |
|
ZnF_C2H2
|
147 |
169 |
9.96e-1 |
SMART |
|
low complexity region
|
214 |
226 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
260 |
282 |
9.96e-1 |
SMART |
|
ZnF_C2H2
|
288 |
308 |
1.26e1 |
SMART |
|
ZnF_C2H2
|
316 |
339 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
383 |
408 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
413 |
437 |
4.81e0 |
SMART |
|
ZnF_C2H2
|
440 |
463 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
469 |
492 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
582 |
604 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
609 |
632 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
641 |
664 |
1.31e0 |
SMART |
|
ZnF_C2H2
|
670 |
693 |
2.63e0 |
SMART |
|
low complexity region
|
800 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
904 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
936 |
956 |
2.01e1 |
SMART |
|
ZnF_C2H2
|
966 |
986 |
1.91e1 |
SMART |
|
low complexity region
|
1044 |
1057 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1084 |
1104 |
2.7e2 |
SMART |
|
low complexity region
|
1106 |
1119 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1162 |
1182 |
3.56e1 |
SMART |
|
ZnF_C2H2
|
1192 |
1215 |
4.98e-1 |
SMART |
|
ZnF_C2H2
|
1228 |
1251 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
1257 |
1279 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
1285 |
1308 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
1314 |
1337 |
6.75e0 |
SMART |
|
ZnF_C2H2
|
1343 |
1366 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
1385 |
1408 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
1411 |
1433 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
1437 |
1460 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
1477 |
1499 |
4.45e0 |
SMART |
|
ZnF_C2H2
|
1505 |
1527 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
1533 |
1555 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
1561 |
1583 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
1589 |
1612 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
1618 |
1640 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
1646 |
1668 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
1674 |
1696 |
3.52e-1 |
SMART |
|
low complexity region
|
1726 |
1735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113745
|
| SMART Domains |
Protein: ENSMUSP00000109374
Gene: ENSMUSG00000026173
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113747
AA Change: T594A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: T594A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
|
C2
|
641 |
747 |
5.68e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113749
AA Change: T626A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: T626A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
PLCYc
|
538 |
654 |
1.26e-75 |
SMART |
|
C2
|
673 |
779 |
5.68e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113750
AA Change: T594A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: T594A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
|
C2
|
641 |
747 |
7.16e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135111
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141412
|
| SMART Domains |
Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127921
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152707
|
| SMART Domains |
Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
2.6e-12 |
SMART |
|
EFh
|
138 |
166 |
9.97e-1 |
SMART |
|
EFh
|
174 |
202 |
1.83e1 |
SMART |
|
EFh
|
207 |
234 |
4.45e1 |
SMART |
|
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156613
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011]
PHENOTYPE: Males homozygous for a targeted null mutation are subfertile or sterile. Sperm from mutant males fail to initiate the acrosome reaction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
| Azin1 |
A |
T |
15: 38,493,849 (GRCm39) |
I258N |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,989,574 (GRCm39) |
A383V |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cd4 |
A |
T |
6: 124,847,414 (GRCm39) |
F250Y |
probably benign |
Het |
| Clcn4 |
T |
A |
7: 7,290,813 (GRCm39) |
Y662F |
probably benign |
Het |
| Cpa2 |
T |
C |
6: 30,552,020 (GRCm39) |
V249A |
probably benign |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,511 (GRCm39) |
Y365H |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,322 (GRCm39) |
E457G |
probably benign |
Het |
| Eef2k |
T |
A |
7: 120,457,822 (GRCm39) |
Y60* |
probably null |
Het |
| Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Fam178b |
A |
T |
1: 36,639,606 (GRCm39) |
D293E |
probably benign |
Het |
| Fbxl21 |
G |
A |
13: 56,674,873 (GRCm39) |
V49I |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,736 (GRCm39) |
E82G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,439,531 (GRCm39) |
I5434T |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Iqsec3 |
T |
C |
6: 121,356,977 (GRCm39) |
K1035E |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,223,174 (GRCm39) |
V102D |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,698,016 (GRCm39) |
T295A |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,871,611 (GRCm39) |
D397V |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,081,013 (GRCm39) |
V585A |
probably damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
| Sesn3 |
C |
A |
9: 14,233,954 (GRCm39) |
T309K |
probably benign |
Het |
| Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,067,127 (GRCm39) |
V614A |
probably damaging |
Het |
| Srsf4 |
A |
G |
4: 131,601,175 (GRCm39) |
K34R |
probably damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Utp3 |
T |
C |
5: 88,703,458 (GRCm39) |
V329A |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,541 (GRCm39) |
W204R |
probably damaging |
Het |
| Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
probably damaging |
Het |
|
| Other mutations in Plcd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Plcd4
|
APN |
1 |
74,591,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01806:Plcd4
|
APN |
1 |
74,591,192 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02537:Plcd4
|
APN |
1 |
74,595,209 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02574:Plcd4
|
APN |
1 |
74,603,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Plcd4
|
APN |
1 |
74,596,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03350:Plcd4
|
APN |
1 |
74,588,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Plcd4
|
UTSW |
1 |
74,591,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1699:Plcd4
|
UTSW |
1 |
74,587,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1852:Plcd4
|
UTSW |
1 |
74,588,520 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2120:Plcd4
|
UTSW |
1 |
74,603,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2125:Plcd4
|
UTSW |
1 |
74,604,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3023:Plcd4
|
UTSW |
1 |
74,587,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3157:Plcd4
|
UTSW |
1 |
74,590,313 (GRCm39) |
splice site |
probably null |
|
|
R4581:Plcd4
|
UTSW |
1 |
74,587,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Plcd4
|
UTSW |
1 |
74,604,961 (GRCm39) |
splice site |
probably null |
|
|
R4911:Plcd4
|
UTSW |
1 |
74,603,572 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4987:Plcd4
|
UTSW |
1 |
74,587,118 (GRCm39) |
unclassified |
probably benign |
|
|
R5102:Plcd4
|
UTSW |
1 |
74,604,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Plcd4
|
UTSW |
1 |
74,587,131 (GRCm39) |
splice site |
probably null |
|
|
R5887:Plcd4
|
UTSW |
1 |
74,590,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Plcd4
|
UTSW |
1 |
74,602,753 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6648:Plcd4
|
UTSW |
1 |
74,591,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6796:Plcd4
|
UTSW |
1 |
74,601,229 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6920:Plcd4
|
UTSW |
1 |
74,604,994 (GRCm39) |
unclassified |
probably benign |
|
|
R7047:Plcd4
|
UTSW |
1 |
74,591,148 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7121:Plcd4
|
UTSW |
1 |
74,604,524 (GRCm39) |
missense |
probably benign |
|
|
R7134:Plcd4
|
UTSW |
1 |
74,593,662 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7270:Plcd4
|
UTSW |
1 |
74,593,838 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7344:Plcd4
|
UTSW |
1 |
74,593,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7363:Plcd4
|
UTSW |
1 |
74,590,231 (GRCm39) |
missense |
probably null |
0.99 |
|
R7749:Plcd4
|
UTSW |
1 |
74,604,292 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7980:Plcd4
|
UTSW |
1 |
74,604,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8240:Plcd4
|
UTSW |
1 |
74,593,660 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8762:Plcd4
|
UTSW |
1 |
74,591,213 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9000:Plcd4
|
UTSW |
1 |
74,601,024 (GRCm39) |
nonsense |
probably null |
|
|
R9114:Plcd4
|
UTSW |
1 |
74,591,307 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9162:Plcd4
|
UTSW |
1 |
74,601,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9252:Plcd4
|
UTSW |
1 |
74,588,359 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9579:Plcd4
|
UTSW |
1 |
74,596,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Plcd4
|
UTSW |
1 |
74,596,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Plcd4
|
UTSW |
1 |
74,587,285 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCATGCATGTAATACACAC -3'
(R):5'- TCCTGTCATGTTGAGCCACC -3'
Sequencing Primer
(F):5'- AATAGGGTGTATAGCCCTGGC -3'
(R):5'- ACCCACTGTTATACCCATATGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation