Incidental Mutation 'R1449:Phldb1'
| ID |
159138 |
| 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 |
039504-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R1449 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44597601-44646495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44627930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 172
(T172S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034611]
[ENSMUST00000123406]
[ENSMUST00000134465]
[ENSMUST00000138356]
[ENSMUST00000144251]
[ENSMUST00000147495]
[ENSMUST00000148929]
[ENSMUST00000156918]
|
| AlphaFold |
Q6PDH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034611
AA Change: T172S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: T172S
| 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: ENSMUST00000123406
AA Change: T52S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114257
Gene: ENSMUSG00000048537
AA Change: T52S
| 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 |
noncoding transcript
Transcript: ENSMUST00000126818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128326
|
| SMART Domains |
Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537
| 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 benign
Transcript: ENSMUST00000134465
AA Change: T172S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: T172S
| 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 benign
Transcript: ENSMUST00000138356
AA Change: T172S
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: T172S
| 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: ENSMUST00000144251
|
| SMART Domains |
Protein: ENSMUSP00000114773
Gene: ENSMUSG00000048537
| 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 benign
Transcript: ENSMUST00000147495
AA Change: T172S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: T172S
| 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: ENSMUST00000148929
AA Change: T52S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000114533
Gene: ENSMUSG00000048537
AA Change: T52S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214717
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148344
|
| SMART Domains |
Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537
| 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: ENSMUST00000156918
|
| SMART Domains |
Protein: ENSMUSP00000120092
Gene: ENSMUSG00000048537
| 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: 98.8%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
G |
4: 137,182,666 (GRCm39) |
N274D |
possibly damaging |
Het |
| 6430571L13Rik |
T |
A |
9: 107,219,689 (GRCm39) |
N47K |
probably damaging |
Het |
| Aasdh |
C |
T |
5: 77,034,136 (GRCm39) |
A472T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,248,580 (GRCm39) |
T2776A |
probably damaging |
Het |
| Adamts10 |
T |
A |
17: 33,764,613 (GRCm39) |
V711D |
probably damaging |
Het |
| Adrb3 |
G |
A |
8: 27,717,415 (GRCm39) |
R345C |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,708,520 (GRCm39) |
V325A |
possibly damaging |
Het |
| Armc6 |
G |
A |
8: 70,677,943 (GRCm39) |
L129F |
probably benign |
Het |
| Bend6 |
T |
C |
1: 33,917,424 (GRCm39) |
N10S |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,577,134 (GRCm39) |
E59G |
possibly damaging |
Het |
| Brd3 |
A |
G |
2: 27,340,263 (GRCm39) |
|
probably null |
Het |
| Brd3 |
A |
G |
2: 27,347,028 (GRCm39) |
Y369H |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,361,408 (GRCm39) |
|
probably null |
Het |
| Camk4 |
A |
G |
18: 33,072,528 (GRCm39) |
D27G |
probably damaging |
Het |
| Camkk1 |
T |
G |
11: 72,924,710 (GRCm39) |
S308A |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,554,456 (GRCm39) |
T717A |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,212,730 (GRCm39) |
S1563R |
probably damaging |
Het |
| Cep44 |
A |
T |
8: 56,993,985 (GRCm39) |
S197R |
probably benign |
Het |
| Col3a1 |
T |
A |
1: 45,360,771 (GRCm39) |
I67N |
unknown |
Het |
| Dcaf12l1 |
T |
C |
X: 43,878,304 (GRCm39) |
T165A |
probably benign |
Het |
| Dicer1 |
T |
C |
12: 104,695,502 (GRCm39) |
Y143C |
possibly damaging |
Het |
| Dlg5 |
A |
G |
14: 24,185,711 (GRCm39) |
I1898T |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 30,985,908 (GRCm39) |
N3762D |
probably damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,653,521 (GRCm39) |
T1382S |
possibly damaging |
Het |
| Entpd3 |
A |
T |
9: 120,395,555 (GRCm39) |
R513W |
probably damaging |
Het |
| Foxred1 |
A |
G |
9: 35,120,738 (GRCm39) |
S132P |
probably damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,143,826 (GRCm39) |
I273V |
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,787,251 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
A |
13: 49,887,186 (GRCm39) |
V1253D |
probably damaging |
Het |
| Iqsec1 |
T |
A |
6: 90,667,790 (GRCm39) |
K216* |
probably null |
Het |
| Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
| Kcnk2 |
G |
A |
1: 189,072,223 (GRCm39) |
S35L |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,966,212 (GRCm39) |
Y402C |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,126,241 (GRCm39) |
S484P |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,666,861 (GRCm39) |
|
probably null |
Het |
| Lhx8 |
G |
T |
3: 154,033,742 (GRCm39) |
S46* |
probably null |
Het |
| Lin7a |
T |
C |
10: 107,159,813 (GRCm39) |
S42P |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,261,585 (GRCm39) |
R1513Q |
probably damaging |
Het |
| Maml2 |
C |
A |
9: 13,531,980 (GRCm39) |
P398Q |
possibly damaging |
Het |
| Mast2 |
T |
C |
4: 116,166,210 (GRCm39) |
I1201V |
probably damaging |
Het |
| Mmp20 |
A |
T |
9: 7,642,769 (GRCm39) |
D201V |
probably damaging |
Het |
| Morn5 |
T |
A |
2: 35,947,092 (GRCm39) |
C123* |
probably null |
Het |
| Mrpl4 |
A |
G |
9: 20,918,807 (GRCm39) |
K175E |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,689,372 (GRCm39) |
S302T |
probably benign |
Het |
| Ndrg2 |
T |
C |
14: 52,145,591 (GRCm39) |
Y217C |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,976,803 (GRCm39) |
D159G |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,089 (GRCm39) |
T109S |
possibly damaging |
Het |
| Npepps |
A |
G |
11: 97,097,980 (GRCm39) |
Y909H |
probably benign |
Het |
| Or10g1 |
A |
G |
14: 52,648,024 (GRCm39) |
C102R |
probably damaging |
Het |
| Or11g7 |
A |
G |
14: 50,691,378 (GRCm39) |
N290D |
probably damaging |
Het |
| Or51a25 |
A |
T |
7: 102,373,397 (GRCm39) |
F100Y |
probably damaging |
Het |
| Or6c211 |
T |
A |
10: 129,506,238 (GRCm39) |
D50V |
probably damaging |
Het |
| Or6c69b |
A |
C |
10: 129,626,723 (GRCm39) |
V245G |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,322,929 (GRCm39) |
H968R |
probably damaging |
Het |
| Pde1b |
T |
A |
15: 103,433,470 (GRCm39) |
I296N |
probably damaging |
Het |
| Plxdc2 |
T |
C |
2: 16,665,592 (GRCm39) |
V215A |
possibly damaging |
Het |
| Poln |
A |
G |
5: 34,171,682 (GRCm39) |
I695T |
probably damaging |
Het |
| Pou6f2 |
G |
T |
13: 18,347,000 (GRCm39) |
Q31K |
probably damaging |
Het |
| Psd |
T |
A |
19: 46,313,250 (GRCm39) |
Y40F |
probably damaging |
Het |
| Rnf126 |
T |
C |
10: 79,597,448 (GRCm39) |
N155D |
probably benign |
Het |
| Rpl36-ps3 |
C |
A |
12: 12,962,032 (GRCm39) |
|
noncoding transcript |
Het |
| Rrp15 |
C |
A |
1: 186,468,465 (GRCm39) |
V184F |
possibly damaging |
Het |
| Rslcan18 |
G |
T |
13: 67,250,164 (GRCm39) |
L24M |
possibly damaging |
Het |
| Sall1 |
A |
G |
8: 89,759,111 (GRCm39) |
I331T |
probably benign |
Het |
| Slamf7 |
A |
T |
1: 171,468,606 (GRCm39) |
N95K |
possibly damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,635,951 (GRCm39) |
Y339H |
probably damaging |
Het |
| Slc39a8 |
A |
G |
3: 135,532,446 (GRCm39) |
N72D |
probably benign |
Het |
| Slf1 |
A |
G |
13: 77,231,568 (GRCm39) |
S604P |
probably damaging |
Het |
| Slfn4 |
C |
T |
11: 83,079,819 (GRCm39) |
T110M |
probably benign |
Het |
| Tnpo1 |
T |
C |
13: 99,015,220 (GRCm39) |
T116A |
probably damaging |
Het |
| Tor1b |
T |
C |
2: 30,845,893 (GRCm39) |
I190T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,800,138 (GRCm39) |
E357* |
probably null |
Het |
| Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
| Ubap2 |
A |
G |
4: 41,209,351 (GRCm39) |
|
probably null |
Het |
| Ube2i |
T |
C |
17: 25,487,538 (GRCm39) |
D67G |
possibly damaging |
Het |
| Ubxn11 |
A |
G |
4: 133,852,203 (GRCm39) |
E50G |
probably damaging |
Het |
| Wnk1 |
A |
G |
6: 119,929,779 (GRCm39) |
V1246A |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,929,124 (GRCm39) |
T38A |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,664,130 (GRCm39) |
S552P |
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 |
|
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 |
|
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'- TTCTCATAGCTGGAGCCCACAGAC -3'
(R):5'- CGTACCTGGTACTGTTGCTGACTC -3'
Sequencing Primer
(F):5'- ACAGACATGGCACCGGG -3'
(R):5'- ggggaacccagggcaag -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation