Incidental Mutation 'R7307:Phldb1'
| ID |
567320 |
| 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 |
045366-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R7307 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44597601-44646495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44605344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 604
(T604A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034611]
[ENSMUST00000123310]
[ENSMUST00000134465]
[ENSMUST00000135436]
[ENSMUST00000138356]
[ENSMUST00000144251]
[ENSMUST00000147495]
[ENSMUST00000154723]
[ENSMUST00000156918]
|
| AlphaFold |
Q6PDH0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034611
AA Change: T1291A
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: T1291A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537
AA Change: T751A
| 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 |
possibly damaging
Transcript: ENSMUST00000134465
AA Change: T1244A
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: T1244A
| 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: ENSMUST00000135436
AA Change: T415A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120023
Gene: ENSMUSG00000048537
AA Change: T415A
| 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 |
probably damaging
Transcript: ENSMUST00000138356
AA Change: T1358A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: T1358A
| 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: T604A
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114773
Gene: ENSMUSG00000048537
AA Change: T604A
| 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 |
possibly damaging
Transcript: ENSMUST00000147495
AA Change: T1291A
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: T1291A
| 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: T1050A
| 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 |
possibly damaging
Transcript: ENSMUST00000156918
AA Change: T561A
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120092
Gene: ENSMUSG00000048537
AA Change: T561A
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
G |
A |
16: 16,936,259 (GRCm39) |
P155L |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,217,899 (GRCm39) |
L285F |
probably damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,816,949 (GRCm39) |
Y393N |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,865,016 (GRCm39) |
Q993R |
probably benign |
Het |
| Arhgef33 |
G |
C |
17: 80,654,549 (GRCm39) |
|
probably null |
Het |
| B4galnt3 |
T |
C |
6: 120,192,392 (GRCm39) |
D448G |
probably benign |
Het |
| Capn1 |
C |
G |
19: 6,043,938 (GRCm39) |
E564D |
possibly damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,349,384 (GRCm39) |
S474P |
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,140,626 (GRCm39) |
L1289* |
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,193,719 (GRCm39) |
N920K |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,345,143 (GRCm39) |
S2091N |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,273,960 (GRCm39) |
I581N |
probably damaging |
Het |
| Dnm2 |
A |
T |
9: 21,396,983 (GRCm39) |
N487Y |
probably damaging |
Het |
| Enc1 |
A |
C |
13: 97,381,601 (GRCm39) |
N37T |
probably damaging |
Het |
| Ephb3 |
T |
G |
16: 21,040,976 (GRCm39) |
I932S |
probably benign |
Het |
| Frk |
T |
A |
10: 34,467,934 (GRCm39) |
M316K |
probably damaging |
Het |
| Gdap2 |
C |
T |
3: 100,109,349 (GRCm39) |
R25C |
unknown |
Het |
| Gpat2 |
T |
A |
2: 127,276,810 (GRCm39) |
D671E |
probably damaging |
Het |
| Gpr179 |
C |
T |
11: 97,229,672 (GRCm39) |
E828K |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,538,142 (GRCm39) |
Y1052H |
probably damaging |
Het |
| Gtf2f1 |
C |
T |
17: 57,314,833 (GRCm39) |
S69N |
probably damaging |
Het |
| Hid1 |
A |
C |
11: 115,239,308 (GRCm39) |
I785S |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,233,093 (GRCm39) |
I214T |
probably damaging |
Het |
| Hsd3b5 |
G |
T |
3: 98,527,085 (GRCm39) |
F120L |
probably damaging |
Het |
| Kif16b |
C |
T |
2: 142,554,851 (GRCm39) |
R649Q |
probably benign |
Het |
| Kif17 |
A |
T |
4: 137,989,954 (GRCm39) |
E47D |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,279,896 (GRCm39) |
H1368R |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,747,299 (GRCm39) |
S3342T |
unknown |
Het |
| Krt82 |
A |
G |
15: 101,451,342 (GRCm39) |
C356R |
probably damaging |
Het |
| Lrit2 |
A |
G |
14: 36,794,156 (GRCm39) |
K407E |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,584,640 (GRCm39) |
H325Q |
possibly damaging |
Het |
| Mccc2 |
T |
G |
13: 100,125,108 (GRCm39) |
D187A |
possibly damaging |
Het |
| Mgll |
T |
A |
6: 88,791,103 (GRCm39) |
|
probably null |
Het |
| Mindy2 |
T |
G |
9: 70,518,241 (GRCm39) |
E449A |
possibly damaging |
Het |
| Muc5b |
G |
A |
7: 141,396,031 (GRCm39) |
V96M |
unknown |
Het |
| Nlrp4e |
A |
G |
7: 23,020,953 (GRCm39) |
E480G |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,784,002 (GRCm39) |
I1093T |
probably benign |
Het |
| Or13a26 |
G |
A |
7: 140,285,060 (GRCm39) |
V299I |
probably benign |
Het |
| Or1j4 |
G |
A |
2: 36,740,137 (GRCm39) |
M26I |
probably benign |
Het |
| Or4g7 |
A |
T |
2: 111,309,105 (GRCm39) |
|
probably benign |
Het |
| Or52a20 |
G |
T |
7: 103,366,173 (GRCm39) |
R124L |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,531 (GRCm39) |
H484L |
probably benign |
Het |
| Pitpnm3 |
G |
T |
11: 71,961,790 (GRCm39) |
A275D |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,638,118 (GRCm39) |
|
probably null |
Het |
| Polr3a |
A |
G |
14: 24,510,055 (GRCm39) |
C960R |
probably benign |
Het |
| Pou6f2 |
G |
A |
13: 18,414,298 (GRCm39) |
A159V |
|
Het |
| Pramel11 |
A |
C |
4: 143,623,345 (GRCm39) |
Y276* |
probably null |
Het |
| Pramel51 |
A |
C |
12: 88,148,519 (GRCm39) |
C32W |
probably damaging |
Het |
| Psmc4 |
A |
G |
7: 27,742,085 (GRCm39) |
V303A |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,731,645 (GRCm39) |
N151S |
possibly damaging |
Het |
| Ptprk |
T |
A |
10: 28,465,004 (GRCm39) |
Y1295* |
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,324,283 (GRCm39) |
K881E |
possibly damaging |
Het |
| Rcan2 |
T |
A |
17: 44,331,993 (GRCm39) |
Y183* |
probably null |
Het |
| Rnd1 |
T |
C |
15: 98,568,680 (GRCm39) |
E166G |
probably damaging |
Het |
| Rnf113a2 |
T |
A |
12: 84,464,953 (GRCm39) |
C282S |
probably damaging |
Het |
| S100b |
G |
A |
10: 76,092,926 (GRCm39) |
G20R |
probably benign |
Het |
| Sae1 |
G |
T |
7: 16,102,469 (GRCm39) |
Y168* |
probably null |
Het |
| Samd9l |
C |
A |
6: 3,372,600 (GRCm39) |
G1554* |
probably null |
Het |
| Samhd1 |
T |
C |
2: 156,976,940 (GRCm39) |
S55G |
probably benign |
Het |
| Sgsm1 |
T |
C |
5: 113,421,512 (GRCm39) |
D525G |
probably benign |
Het |
| Slc28a3 |
A |
T |
13: 58,710,986 (GRCm39) |
M512K |
probably damaging |
Het |
| Slc9b2 |
T |
A |
3: 135,024,151 (GRCm39) |
N67K |
probably benign |
Het |
| Smarca4 |
T |
A |
9: 21,550,096 (GRCm39) |
I402N |
probably damaging |
Het |
| St7l |
T |
C |
3: 104,796,669 (GRCm39) |
F261L |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,721,553 (GRCm39) |
V1140D |
probably damaging |
Het |
| Syt6 |
T |
A |
3: 103,494,788 (GRCm39) |
I251N |
probably damaging |
Het |
| Taok2 |
T |
C |
7: 126,465,990 (GRCm39) |
E916G |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,289,288 (GRCm39) |
S426P |
probably damaging |
Het |
| Thra |
T |
C |
11: 98,655,134 (GRCm39) |
I338T |
probably damaging |
Het |
| Trub1 |
A |
T |
19: 57,461,135 (GRCm39) |
Y137F |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,841,691 (GRCm39) |
F2574L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,567,981 (GRCm39) |
D1091E |
probably damaging |
Het |
| Zdhhc6 |
A |
G |
19: 55,301,682 (GRCm39) |
Y100H |
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 |
|
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 |
|
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'- CAAACCAATGCGAATCGGG -3'
(R):5'- AGTACTTTTCAGTGCTAGCCAGG -3'
Sequencing Primer
(F):5'- AATCGGGTGCACTCTGTAC -3'
(R):5'- ACTTTTCAGTGCTAGCCAGGGATAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation