Incidental Mutation 'R9448:Phldb1'
| ID |
714070 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R9448 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44597601-44646495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44622546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 36
(L36M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034611]
[ENSMUST00000123406]
[ENSMUST00000134465]
[ENSMUST00000138356]
[ENSMUST00000144251]
[ENSMUST00000147495]
[ENSMUST00000154723]
[ENSMUST00000156918]
|
| AlphaFold |
Q6PDH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034611
AA Change: L719M
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: L719M
| 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: ENSMUST00000123123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123406
|
| SMART Domains |
Protein: ENSMUSP00000114257
Gene: ENSMUSG00000048537
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
196 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537
AA Change: L211M
| 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 |
probably damaging
Transcript: ENSMUST00000134465
AA Change: L719M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: L719M
| 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 |
probably damaging
Transcript: ENSMUST00000138356
AA Change: L719M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: L719M
| 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 |
possibly damaging
Transcript: ENSMUST00000144251
AA Change: L36M
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114773
Gene: ENSMUSG00000048537
AA Change: L36M
| 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: ENSMUST00000147495
AA Change: L719M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: L719M
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537
AA Change: L463M
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156918
AA Change: L36M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120092
Gene: ENSMUSG00000048537
AA Change: L36M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,099,575 (GRCm39) |
V685A |
possibly damaging |
Het |
| Atg9a |
G |
T |
1: 75,162,849 (GRCm39) |
T417K |
probably benign |
Het |
| Atp6v1a |
T |
A |
16: 43,931,872 (GRCm39) |
K139* |
probably null |
Het |
| Baz1b |
T |
C |
5: 135,239,656 (GRCm39) |
I252T |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,759,338 (GRCm39) |
W380R |
|
Het |
| Cep290 |
T |
G |
10: 100,395,546 (GRCm39) |
V2118G |
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,677,773 (GRCm39) |
D352G |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,460,315 (GRCm39) |
D2581G |
|
Het |
| Diras2 |
T |
A |
13: 52,662,122 (GRCm39) |
T62S |
possibly damaging |
Het |
| Dmrt1 |
T |
C |
19: 25,523,255 (GRCm39) |
V202A |
possibly damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,972 (GRCm39) |
K46E |
probably damaging |
Het |
| Dph7 |
A |
T |
2: 24,861,952 (GRCm39) |
K455M |
probably damaging |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,087,881 (GRCm39) |
N426S |
probably benign |
Het |
| Exo5 |
A |
G |
4: 120,778,888 (GRCm39) |
W326R |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,792,411 (GRCm39) |
|
probably null |
Het |
| Flii |
T |
C |
11: 60,606,393 (GRCm39) |
N1099S |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,744,406 (GRCm39) |
T381A |
possibly damaging |
Het |
| Foxl1 |
T |
C |
8: 121,855,608 (GRCm39) |
V303A |
probably benign |
Het |
| Fsd1l |
G |
T |
4: 53,694,826 (GRCm39) |
E427* |
probably null |
Het |
| Galnt18 |
A |
T |
7: 111,153,649 (GRCm39) |
I325N |
probably damaging |
Het |
| Gm5478 |
T |
C |
15: 101,553,662 (GRCm39) |
N274S |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,335,193 (GRCm39) |
T535S |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,068,015 (GRCm39) |
D1791G |
probably benign |
Het |
| Igkv12-98 |
T |
C |
6: 68,548,156 (GRCm39) |
I95T |
probably damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,366,604 (GRCm39) |
Y46C |
probably benign |
Het |
| Inhca |
G |
T |
9: 103,149,781 (GRCm39) |
Q259K |
probably benign |
Het |
| Kdr |
T |
C |
5: 76,102,569 (GRCm39) |
E1186G |
probably benign |
Het |
| Knstrn |
T |
C |
2: 118,644,975 (GRCm39) |
|
probably null |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,666,455 (GRCm39) |
Q1383* |
probably null |
Het |
| Mep1a |
T |
C |
17: 43,805,869 (GRCm39) |
|
probably null |
Het |
| Mep1b |
A |
G |
18: 21,217,199 (GRCm39) |
D106G |
probably damaging |
Het |
| Moxd2 |
T |
C |
6: 40,864,160 (GRCm39) |
N90S |
probably benign |
Het |
| Ms4a4c |
T |
A |
19: 11,392,317 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
A |
T |
7: 23,000,956 (GRCm39) |
M84L |
probably benign |
Het |
| Noc2l |
C |
A |
4: 156,320,781 (GRCm39) |
R66S |
probably benign |
Het |
| Nox4 |
A |
T |
7: 87,045,001 (GRCm39) |
L580F |
unknown |
Het |
| Numb |
A |
G |
12: 83,888,990 (GRCm39) |
|
probably null |
Het |
| Or1l4 |
A |
G |
2: 37,091,221 (GRCm39) |
|
probably benign |
Het |
| Or5w13 |
A |
T |
2: 87,523,824 (GRCm39) |
V134E |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,039,360 (GRCm39) |
K274* |
probably null |
Het |
| Pcdh1 |
G |
A |
18: 38,330,492 (GRCm39) |
P976L |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,256,360 (GRCm39) |
K627E |
probably damaging |
Het |
| Pdzk1 |
A |
T |
3: 96,761,922 (GRCm39) |
D178V |
probably damaging |
Het |
| Pip5k1c |
A |
G |
10: 81,141,645 (GRCm39) |
E111G |
probably damaging |
Het |
| Plcb4 |
G |
A |
2: 135,752,045 (GRCm39) |
E84K |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,108,034 (GRCm39) |
Y646N |
probably benign |
Het |
| Psmc6 |
T |
C |
14: 45,568,483 (GRCm39) |
F69L |
probably benign |
Het |
| Ptk2 |
T |
A |
15: 73,215,041 (GRCm39) |
S46C |
possibly damaging |
Het |
| Ptpn6 |
G |
A |
6: 124,709,771 (GRCm39) |
R23W |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,149,819 (GRCm39) |
Y143* |
probably null |
Het |
| Qrich2 |
T |
C |
11: 116,338,091 (GRCm39) |
E141G |
probably benign |
Het |
| Rsf1 |
G |
GCCGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,381,127 (GRCm39) |
L136P |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,179,704 (GRCm39) |
F676S |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,850,250 (GRCm39) |
Y635* |
probably null |
Het |
| Spata31f1e |
T |
C |
4: 42,793,440 (GRCm39) |
R231G |
probably benign |
Het |
| Spata32 |
C |
T |
11: 103,099,648 (GRCm39) |
G286R |
probably damaging |
Het |
| Tbx19 |
T |
C |
1: 164,981,090 (GRCm39) |
K135E |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,567 (GRCm39) |
T1494A |
probably benign |
Het |
| Tmem62 |
A |
C |
2: 120,808,211 (GRCm39) |
D71A |
probably damaging |
Het |
| Tnfsf15 |
A |
T |
4: 63,663,305 (GRCm39) |
V6D |
possibly damaging |
Het |
| Tulp4 |
T |
C |
17: 6,248,948 (GRCm39) |
V182A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,522,027 (GRCm39) |
V104D |
probably benign |
Het |
| Zdhhc8 |
C |
A |
16: 18,039,558 (GRCm39) |
G159C |
|
Het |
| Zfy2 |
A |
G |
Y: 2,109,904 (GRCm39) |
W338R |
probably damaging |
Het |
| Znfx1 |
T |
G |
2: 166,888,844 (GRCm39) |
Q788P |
probably benign |
Het |
| Zscan26 |
A |
G |
13: 21,632,431 (GRCm39) |
V100A |
probably benign |
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 |
|
R6257:Phldb1
|
UTSW |
9 |
44,607,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TCGGCCTAGACAAGGGTATC -3'
(R):5'- TCTGGTAAATCCTTTCCCGATAGC -3'
Sequencing Primer
(F):5'- CCTAGACAAGGGTATCAGCATTCTG -3'
(R):5'- ATAGCTGAGCTCCCTGACTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation