Incidental Mutation 'R6318:Plcd4'
| ID |
510254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd4
|
| Ensembl Gene |
ENSMUSG00000026173 |
| Gene Name |
phospholipase C, delta 4 |
| Synonyms |
4921507K24Rik |
| MMRRC Submission |
044473-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6318 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74581175-74605137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74602753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 668
(L668F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027315]
[ENSMUST00000027362]
[ENSMUST00000066986]
[ENSMUST00000067916]
[ENSMUST00000113737]
[ENSMUST00000113747]
[ENSMUST00000113749]
[ENSMUST00000113750]
[ENSMUST00000141412]
[ENSMUST00000152707]
[ENSMUST00000156613]
[ENSMUST00000127921]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000027362
AA Change: L668F
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: L668F
| 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 benign
Transcript: ENSMUST00000067916
AA Change: L636F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: L636F
| 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 benign
Transcript: ENSMUST00000113747
AA Change: L636F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: L636F
| 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 |
possibly damaging
Transcript: ENSMUST00000113749
AA Change: L668F
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: L668F
| 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: ENSMUST00000113750
AA Change: L636F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: L636F
| 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 |
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: 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 |
noncoding transcript
Transcript: ENSMUST00000135111
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127921
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
99% (74/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,270,474 (GRCm39) |
T13A |
possibly damaging |
Het |
| Abcg4 |
T |
C |
9: 44,186,645 (GRCm39) |
T500A |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,006,681 (GRCm39) |
I1051F |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,343,241 (GRCm39) |
N235K |
probably benign |
Het |
| Aldh3a2 |
A |
C |
11: 61,153,245 (GRCm39) |
Y160* |
probably null |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Armt1 |
T |
C |
10: 4,400,859 (GRCm39) |
M202T |
probably benign |
Het |
| Brd2 |
C |
A |
17: 34,331,872 (GRCm39) |
V349F |
probably damaging |
Het |
| Btnl10 |
A |
T |
11: 58,817,691 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
A |
G |
18: 22,253,591 (GRCm39) |
V216A |
possibly damaging |
Het |
| Ccdc85c |
A |
T |
12: 108,240,968 (GRCm39) |
L142Q |
unknown |
Het |
| Cdc27 |
A |
T |
11: 104,419,520 (GRCm39) |
S172T |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,548,237 (GRCm39) |
I109T |
probably damaging |
Het |
| Ces5a |
C |
T |
8: 94,261,211 (GRCm39) |
G72E |
probably damaging |
Het |
| Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Clec14a |
G |
A |
12: 58,315,001 (GRCm39) |
P207L |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,448,652 (GRCm39) |
R599H |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,953,212 (GRCm39) |
I3423N |
probably damaging |
Het |
| Cyp4a29 |
C |
A |
4: 115,107,396 (GRCm39) |
N243K |
probably benign |
Het |
| Ddx59 |
T |
C |
1: 136,344,610 (GRCm39) |
F94L |
probably damaging |
Het |
| Dusp3 |
A |
C |
11: 101,877,697 (GRCm39) |
V19G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,828,280 (GRCm39) |
|
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,313,921 (GRCm39) |
V545E |
probably damaging |
Het |
| Fxn |
G |
T |
19: 24,257,790 (GRCm39) |
A47D |
probably damaging |
Het |
| Gdpgp1 |
A |
T |
7: 79,888,898 (GRCm39) |
I310F |
possibly damaging |
Het |
| Gm7210 |
A |
T |
7: 11,328,040 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
G |
T |
6: 111,335,836 (GRCm39) |
C749F |
probably damaging |
Het |
| Hps4 |
T |
G |
5: 112,494,495 (GRCm39) |
V26G |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,814,981 (GRCm39) |
D294G |
probably benign |
Het |
| Immp1l |
T |
C |
2: 105,761,172 (GRCm39) |
F27S |
probably benign |
Het |
| Kcnk3 |
T |
A |
5: 30,779,930 (GRCm39) |
C327S |
probably damaging |
Het |
| Kif13a |
T |
A |
13: 46,968,683 (GRCm39) |
|
probably null |
Het |
| Krtap5-4 |
T |
C |
7: 141,857,827 (GRCm39) |
S166P |
unknown |
Het |
| Lyst |
G |
A |
13: 13,917,896 (GRCm39) |
D3319N |
possibly damaging |
Het |
| Malrd1 |
T |
G |
2: 16,047,078 (GRCm39) |
S1735A |
unknown |
Het |
| Myh4 |
A |
G |
11: 67,134,268 (GRCm39) |
T308A |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,190,167 (GRCm39) |
Q1269L |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,781,657 (GRCm39) |
V1367I |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,250,269 (GRCm39) |
D208G |
probably benign |
Het |
| Nelfe |
T |
A |
17: 35,073,432 (GRCm39) |
V296D |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,518,761 (GRCm39) |
R284G |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,109,374 (GRCm39) |
V734E |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,299,390 (GRCm39) |
N752S |
probably damaging |
Het |
| Or11i1 |
T |
C |
3: 106,729,503 (GRCm39) |
D124G |
probably damaging |
Het |
| Or3a1b |
A |
T |
11: 74,012,547 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,998 (GRCm39) |
I301V |
possibly damaging |
Het |
| Or8b1 |
T |
C |
9: 38,399,673 (GRCm39) |
M116T |
probably benign |
Het |
| Otof |
C |
A |
5: 30,571,888 (GRCm39) |
G171V |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 21,006,939 (GRCm39) |
V208D |
probably damaging |
Het |
| Pkn1 |
T |
A |
8: 84,410,220 (GRCm39) |
T340S |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Prss50 |
A |
T |
9: 110,690,367 (GRCm39) |
D170V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,237,118 (GRCm38) |
V604A |
probably damaging |
Het |
| Rab33b |
T |
C |
3: 51,400,826 (GRCm39) |
V100A |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,368,971 (GRCm39) |
D736V |
probably damaging |
Het |
| Rela |
C |
A |
19: 5,696,992 (GRCm39) |
P400T |
probably benign |
Het |
| Rpusd4 |
T |
C |
9: 35,179,334 (GRCm39) |
L50P |
probably damaging |
Het |
| Scn10a |
A |
C |
9: 119,456,181 (GRCm39) |
Y1214D |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,877,430 (GRCm39) |
E179G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,374,330 (GRCm39) |
D1253V |
unknown |
Het |
| Sp4 |
G |
T |
12: 118,201,913 (GRCm39) |
P771H |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,256,099 (GRCm39) |
Y263F |
probably damaging |
Het |
| Ssbp1 |
G |
A |
6: 40,453,687 (GRCm39) |
V78I |
probably benign |
Het |
| St3gal6 |
A |
G |
16: 58,306,769 (GRCm39) |
I87T |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,545,129 (GRCm39) |
D997E |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,321,639 (GRCm39) |
P2265S |
possibly damaging |
Het |
| Ttc7b |
A |
T |
12: 100,291,936 (GRCm39) |
F212Y |
probably damaging |
Het |
| Ubc |
A |
G |
5: 125,465,324 (GRCm39) |
M1T |
probably null |
Het |
| Vill |
G |
C |
9: 118,892,716 (GRCm39) |
Q376H |
probably benign |
Het |
| Yes1 |
T |
C |
5: 32,809,030 (GRCm39) |
I132T |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,993,444 (GRCm39) |
T830A |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,358,044 (GRCm39) |
F451I |
possibly damaging |
Het |
| Zfp995 |
C |
T |
17: 22,099,493 (GRCm39) |
C247Y |
probably benign |
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 |
|
|
R4535:Plcd4
|
UTSW |
1 |
74,602,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGCATGCATGTAATACACACATACC -3'
(R):5'- AGGTGTATGCTACCACTCCTG -3'
Sequencing Primer
(F):5'- AGACTAGGACAGTGTTAACCTTGTG -3'
(R):5'- ACTCCTGGTAGAGAATTCTCAAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation