Incidental Mutation 'R6257:Phldb1'
| ID |
506403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phldb1
|
| Ensembl Gene |
ENSMUSG00000048537 |
| Gene Name |
pleckstrin homology like domain, family B, member 1 |
| Synonyms |
D330037A14Rik, LL5A |
| MMRRC Submission |
044374-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R6257 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44597601-44646495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44607437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1256
(R1256Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034611]
[ENSMUST00000123310]
[ENSMUST00000134465]
[ENSMUST00000135436]
[ENSMUST00000144251]
[ENSMUST00000138356]
[ENSMUST00000147495]
[ENSMUST00000156918]
[ENSMUST00000154723]
|
| AlphaFold |
Q6PDH0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034611
AA Change: R1189Q
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: R1189Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2EH0|A
|
40 |
139 |
3e-10 |
PDB |
|
Blast:FHA
|
63 |
110 |
6e-21 |
BLAST |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
316 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
321 |
354 |
5.01e-5 |
PROSPERO |
|
internal_repeat_1
|
401 |
449 |
5.01e-5 |
PROSPERO |
|
low complexity region
|
459 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
707 |
N/A |
INTRINSIC |
|
coiled coil region
|
715 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
829 |
N/A |
INTRINSIC |
|
coiled coil region
|
865 |
904 |
N/A |
INTRINSIC |
|
low complexity region
|
943 |
961 |
N/A |
INTRINSIC |
|
low complexity region
|
976 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1069 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1111 |
N/A |
INTRINSIC |
|
coiled coil region
|
1150 |
1219 |
N/A |
INTRINSIC |
|
PH
|
1262 |
1366 |
1.31e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123310
|
| SMART Domains |
Protein: ENSMUSP00000122374
Gene: ENSMUSG00000048537
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
193 |
N/A |
INTRINSIC |
|
coiled coil region
|
232 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128326
AA Change: R649Q
|
| SMART Domains |
Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537
AA Change: R649Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
200 |
N/A |
INTRINSIC |
|
coiled coil region
|
207 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
322 |
N/A |
INTRINSIC |
|
coiled coil region
|
357 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
572 |
N/A |
INTRINSIC |
|
coiled coil region
|
610 |
679 |
N/A |
INTRINSIC |
|
PH
|
723 |
827 |
1.31e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133312
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134465
AA Change: R1142Q
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: R1142Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2EH0|A
|
40 |
139 |
3e-10 |
PDB |
|
Blast:FHA
|
63 |
110 |
8e-21 |
BLAST |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
316 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
321 |
354 |
6.75e-5 |
PROSPERO |
|
internal_repeat_1
|
401 |
449 |
6.75e-5 |
PROSPERO |
|
low complexity region
|
459 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
707 |
N/A |
INTRINSIC |
|
coiled coil region
|
715 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
829 |
N/A |
INTRINSIC |
|
coiled coil region
|
865 |
904 |
N/A |
INTRINSIC |
|
low complexity region
|
929 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
1008 |
1022 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1064 |
N/A |
INTRINSIC |
|
coiled coil region
|
1103 |
1172 |
N/A |
INTRINSIC |
|
PH
|
1215 |
1319 |
1.31e-17 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135436
AA Change: R313Q
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120023
Gene: ENSMUSG00000048537
AA Change: R313Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
274 |
343 |
N/A |
INTRINSIC |
|
PH
|
386 |
490 |
1.31e-17 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144251
AA Change: R502Q
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114773
Gene: ENSMUSG00000048537
AA Change: R502Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
coiled coil region
|
32 |
115 |
N/A |
INTRINSIC |
|
coiled coil region
|
146 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
189 |
N/A |
INTRINSIC |
|
coiled coil region
|
225 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
424 |
N/A |
INTRINSIC |
|
coiled coil region
|
463 |
532 |
N/A |
INTRINSIC |
|
PH
|
575 |
679 |
1.31e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138356
AA Change: R1256Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: R1256Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2EH0|A
|
40 |
139 |
4e-10 |
PDB |
|
Blast:FHA
|
63 |
110 |
6e-21 |
BLAST |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
316 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
321 |
354 |
4.93e-5 |
PROSPERO |
|
internal_repeat_1
|
401 |
449 |
4.93e-5 |
PROSPERO |
|
low complexity region
|
459 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
707 |
N/A |
INTRINSIC |
|
coiled coil region
|
715 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
829 |
N/A |
INTRINSIC |
|
coiled coil region
|
865 |
904 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
948 |
N/A |
INTRINSIC |
|
low complexity region
|
999 |
1017 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1053 |
N/A |
INTRINSIC |
|
low complexity region
|
1111 |
1125 |
N/A |
INTRINSIC |
|
low complexity region
|
1159 |
1167 |
N/A |
INTRINSIC |
|
coiled coil region
|
1206 |
1286 |
N/A |
INTRINSIC |
|
PH
|
1329 |
1444 |
6.01e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147495
AA Change: R1189Q
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: R1189Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2EH0|A
|
40 |
139 |
4e-10 |
PDB |
|
Blast:FHA
|
63 |
110 |
6e-21 |
BLAST |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
316 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
321 |
354 |
5e-5 |
PROSPERO |
|
internal_repeat_1
|
401 |
449 |
5e-5 |
PROSPERO |
|
low complexity region
|
459 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
707 |
N/A |
INTRINSIC |
|
coiled coil region
|
715 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
829 |
N/A |
INTRINSIC |
|
coiled coil region
|
865 |
904 |
N/A |
INTRINSIC |
|
low complexity region
|
943 |
961 |
N/A |
INTRINSIC |
|
low complexity region
|
976 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1069 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1111 |
N/A |
INTRINSIC |
|
coiled coil region
|
1150 |
1219 |
N/A |
INTRINSIC |
|
PH
|
1262 |
1377 |
6.01e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156918
AA Change: R459Q
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000120092
Gene: ENSMUSG00000048537
AA Change: R459Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
coiled coil region
|
32 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
146 |
N/A |
INTRINSIC |
|
coiled coil region
|
182 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
381 |
N/A |
INTRINSIC |
|
coiled coil region
|
420 |
489 |
N/A |
INTRINSIC |
|
PH
|
532 |
636 |
1.31e-17 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000148344
AA Change: R948Q
|
| SMART Domains |
Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537
AA Change: R948Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
61 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
66 |
99 |
6.7e-6 |
PROSPERO |
|
internal_repeat_1
|
146 |
194 |
6.7e-6 |
PROSPERO |
|
low complexity region
|
204 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
459 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
574 |
N/A |
INTRINSIC |
|
coiled coil region
|
609 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
706 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
805 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
829 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
871 |
N/A |
INTRINSIC |
|
coiled coil region
|
909 |
978 |
N/A |
INTRINSIC |
|
PH
|
1022 |
1126 |
1.31e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154723
|
| SMART Domains |
Protein: ENSMUSP00000116987
Gene: ENSMUSG00000048537
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
39 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
82 |
N/A |
INTRINSIC |
|
coiled coil region
|
118 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
212 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,272,074 (GRCm39) |
N313K |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
| Adamts6 |
A |
T |
13: 104,598,790 (GRCm39) |
Q877L |
probably benign |
Het |
| Adgre4 |
C |
T |
17: 56,109,133 (GRCm39) |
T380I |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,409,791 (GRCm39) |
|
probably null |
Het |
| Atg16l2 |
A |
G |
7: 100,951,102 (GRCm39) |
|
probably null |
Het |
| Bcl6b |
C |
T |
11: 70,116,878 (GRCm39) |
R467H |
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,258,580 (GRCm39) |
|
probably null |
Het |
| Casp8ap2 |
A |
G |
4: 32,641,364 (GRCm39) |
D806G |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Ccser1 |
A |
G |
6: 61,350,946 (GRCm39) |
D501G |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 62,356,769 (GRCm39) |
T736A |
probably benign |
Het |
| Cd164l2 |
T |
A |
4: 132,948,345 (GRCm39) |
C19S |
unknown |
Het |
| Cdk15 |
G |
A |
1: 59,296,264 (GRCm39) |
|
probably null |
Het |
| Cebpz |
T |
C |
17: 79,243,261 (GRCm39) |
E131G |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,893,025 (GRCm39) |
D519G |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Chd1 |
T |
G |
17: 15,950,465 (GRCm39) |
|
probably null |
Het |
| Chil4 |
T |
A |
3: 106,111,412 (GRCm39) |
D234V |
possibly damaging |
Het |
| Cldn16 |
T |
A |
16: 26,300,080 (GRCm39) |
S173T |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,703,496 (GRCm39) |
F456I |
probably benign |
Het |
| Cst8 |
C |
A |
2: 148,647,365 (GRCm39) |
A125E |
probably damaging |
Het |
| Dars2 |
G |
T |
1: 160,869,398 (GRCm39) |
P617Q |
probably damaging |
Het |
| Defb26 |
A |
G |
2: 152,349,860 (GRCm39) |
V140A |
unknown |
Het |
| Dntt |
T |
G |
19: 41,041,501 (GRCm39) |
V395G |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,481,413 (GRCm39) |
|
probably benign |
Het |
| Dscam |
T |
C |
16: 96,474,914 (GRCm39) |
N1216S |
possibly damaging |
Het |
| En1 |
A |
T |
1: 120,531,636 (GRCm39) |
D292V |
unknown |
Het |
| Erbb4 |
A |
T |
1: 68,435,432 (GRCm39) |
L155Q |
probably damaging |
Het |
| Erbin |
T |
C |
13: 103,998,796 (GRCm39) |
T197A |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,407 (GRCm39) |
F3602L |
probably benign |
Het |
| Fcsk |
A |
T |
8: 111,617,177 (GRCm39) |
C365S |
probably benign |
Het |
| Gm3443 |
A |
T |
19: 21,533,075 (GRCm39) |
D13V |
unknown |
Het |
| Gm6401 |
T |
C |
14: 41,789,828 (GRCm39) |
Q10R |
probably benign |
Het |
| Gmcl1 |
G |
A |
6: 86,677,623 (GRCm39) |
T410I |
possibly damaging |
Het |
| Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
| H2-T24 |
T |
A |
17: 36,325,574 (GRCm39) |
T305S |
probably benign |
Het |
| Ksr2 |
A |
T |
5: 117,552,909 (GRCm39) |
M6L |
probably benign |
Het |
| Lama2 |
A |
G |
10: 26,862,895 (GRCm39) |
L2956S |
possibly damaging |
Het |
| Lhfpl3 |
A |
G |
5: 22,951,557 (GRCm39) |
T123A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,486,981 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
G |
A |
16: 87,208,662 (GRCm39) |
A812V |
possibly damaging |
Het |
| Maml2 |
C |
T |
9: 13,531,722 (GRCm39) |
S312L |
probably damaging |
Het |
| Myo7b |
T |
A |
18: 32,146,468 (GRCm39) |
N106Y |
probably damaging |
Het |
| Nacc2 |
A |
T |
2: 25,950,420 (GRCm39) |
C439S |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,570,173 (GRCm39) |
I224T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,440,317 (GRCm39) |
L2303F |
probably damaging |
Het |
| Noc3l |
A |
T |
19: 38,784,349 (GRCm39) |
|
probably null |
Het |
| Nup155 |
C |
T |
15: 8,180,282 (GRCm39) |
R1120* |
probably null |
Het |
| Oas3 |
C |
A |
5: 120,899,200 (GRCm39) |
|
probably benign |
Het |
| Ocln |
T |
C |
13: 100,676,017 (GRCm39) |
I159V |
probably benign |
Het |
| Or1p1c |
T |
C |
11: 74,160,833 (GRCm39) |
V206A |
probably damaging |
Het |
| Or2t45 |
T |
A |
11: 58,669,829 (GRCm39) |
V292E |
probably damaging |
Het |
| Os9 |
A |
C |
10: 126,955,006 (GRCm39) |
C181G |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,892,195 (GRCm39) |
T208I |
probably benign |
Het |
| Plppr4 |
T |
C |
3: 117,116,228 (GRCm39) |
Q485R |
possibly damaging |
Het |
| Prkcb |
T |
A |
7: 122,167,386 (GRCm39) |
D365E |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,959,639 (GRCm39) |
N45K |
probably damaging |
Het |
| Rbl2 |
T |
C |
8: 91,842,306 (GRCm39) |
L987P |
probably damaging |
Het |
| Runx1 |
T |
A |
16: 92,492,799 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
C |
A |
11: 87,481,175 (GRCm39) |
Q372K |
probably benign |
Het |
| Slc24a4 |
A |
G |
12: 102,220,769 (GRCm39) |
E400G |
probably benign |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Sri |
T |
A |
5: 8,109,596 (GRCm39) |
|
probably null |
Het |
| St3gal3 |
C |
T |
4: 117,964,875 (GRCm39) |
|
probably benign |
Het |
| Tfpt |
A |
T |
7: 3,632,566 (GRCm39) |
L3* |
probably null |
Het |
| Tgfb3 |
T |
C |
12: 86,124,615 (GRCm39) |
D31G |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,408,987 (GRCm39) |
C678* |
probably null |
Het |
| Tmbim1 |
A |
G |
1: 74,332,225 (GRCm39) |
Y101H |
probably damaging |
Het |
| Tmem17 |
A |
G |
11: 22,462,297 (GRCm39) |
|
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,769,113 (GRCm39) |
V769E |
probably damaging |
Het |
| Trak1 |
C |
T |
9: 121,275,821 (GRCm39) |
R175C |
probably damaging |
Het |
| Trak1 |
G |
T |
9: 121,196,290 (GRCm39) |
V41F |
possibly damaging |
Het |
| Trim30c |
T |
C |
7: 104,039,375 (GRCm39) |
Y140C |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,699,835 (GRCm39) |
|
probably null |
Het |
| Ubr7 |
T |
A |
12: 102,732,099 (GRCm39) |
C158* |
probably null |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,778 (GRCm39) |
L392F |
probably benign |
Het |
| Zfp536 |
T |
A |
7: 37,179,830 (GRCm39) |
D925V |
probably damaging |
Het |
|
| Other mutations in Phldb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00549:Phldb1
|
APN |
9 |
44,622,443 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01089:Phldb1
|
APN |
9 |
44,619,184 (GRCm39) |
nonsense |
probably null |
|
|
IGL01374:Phldb1
|
APN |
9 |
44,607,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01654:Phldb1
|
APN |
9 |
44,629,654 (GRCm39) |
splice site |
probably null |
|
|
IGL02148:Phldb1
|
APN |
9 |
44,607,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02408:Phldb1
|
APN |
9 |
44,627,203 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02429:Phldb1
|
APN |
9 |
44,612,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02440:Phldb1
|
APN |
9 |
44,626,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02457:Phldb1
|
APN |
9 |
44,627,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02471:Phldb1
|
APN |
9 |
44,622,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Phldb1
|
APN |
9 |
44,622,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03335:Phldb1
|
APN |
9 |
44,639,366 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4515001:Phldb1
|
UTSW |
9 |
44,627,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0070:Phldb1
|
UTSW |
9 |
44,619,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Phldb1
|
UTSW |
9 |
44,623,003 (GRCm39) |
start codon destroyed |
probably null |
|
|
R0344:Phldb1
|
UTSW |
9 |
44,612,964 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0364:Phldb1
|
UTSW |
9 |
44,610,632 (GRCm39) |
splice site |
probably benign |
|
|
R0622:Phldb1
|
UTSW |
9 |
44,627,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Phldb1
|
UTSW |
9 |
44,610,933 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1449:Phldb1
|
UTSW |
9 |
44,627,930 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1498:Phldb1
|
UTSW |
9 |
44,612,915 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1633:Phldb1
|
UTSW |
9 |
44,629,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1647:Phldb1
|
UTSW |
9 |
44,626,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Phldb1
|
UTSW |
9 |
44,626,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1749:Phldb1
|
UTSW |
9 |
44,627,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Phldb1
|
UTSW |
9 |
44,627,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2012:Phldb1
|
UTSW |
9 |
44,639,333 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2078:Phldb1
|
UTSW |
9 |
44,619,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Phldb1
|
UTSW |
9 |
44,607,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Phldb1
|
UTSW |
9 |
44,637,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2696:Phldb1
|
UTSW |
9 |
44,629,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3705:Phldb1
|
UTSW |
9 |
44,605,691 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4110:Phldb1
|
UTSW |
9 |
44,627,128 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4772:Phldb1
|
UTSW |
9 |
44,622,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Phldb1
|
UTSW |
9 |
44,607,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5148:Phldb1
|
UTSW |
9 |
44,615,455 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5651:Phldb1
|
UTSW |
9 |
44,623,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Phldb1
|
UTSW |
9 |
44,627,078 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5670:Phldb1
|
UTSW |
9 |
44,627,078 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5914:Phldb1
|
UTSW |
9 |
44,622,948 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6232:Phldb1
|
UTSW |
9 |
44,607,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6413:Phldb1
|
UTSW |
9 |
44,607,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Phldb1
|
UTSW |
9 |
44,623,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Phldb1
|
UTSW |
9 |
44,610,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6845:Phldb1
|
UTSW |
9 |
44,627,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Phldb1
|
UTSW |
9 |
44,605,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Phldb1
|
UTSW |
9 |
44,605,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7062:Phldb1
|
UTSW |
9 |
44,607,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7077:Phldb1
|
UTSW |
9 |
44,623,201 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7307:Phldb1
|
UTSW |
9 |
44,605,344 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7995:Phldb1
|
UTSW |
9 |
44,626,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8108:Phldb1
|
UTSW |
9 |
44,622,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8433:Phldb1
|
UTSW |
9 |
44,627,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Phldb1
|
UTSW |
9 |
44,619,740 (GRCm39) |
missense |
probably null |
0.01 |
|
R9366:Phldb1
|
UTSW |
9 |
44,622,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9378:Phldb1
|
UTSW |
9 |
44,615,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9448:Phldb1
|
UTSW |
9 |
44,622,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9539:Phldb1
|
UTSW |
9 |
44,627,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Phldb1
|
UTSW |
9 |
44,627,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Phldb1
|
UTSW |
9 |
44,609,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Phldb1
|
UTSW |
9 |
44,598,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCATCTTTTCTTGAGGACAGG -3'
(R):5'- CTCCCAGAGCAGAAATGTTGAAG -3'
Sequencing Primer
(F):5'- TTCCACAGTGCAGCAGAG -3'
(R):5'- CCATAGATGGGTGACAGAGCCC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation