Incidental Mutation 'R1797:Phldb1'
| ID |
202382 |
| 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 |
039827-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R1797 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44597601-44646495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44627842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 81
(M81K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034611]
[ENSMUST00000123406]
[ENSMUST00000134465]
[ENSMUST00000138356]
[ENSMUST00000144251]
[ENSMUST00000148929]
[ENSMUST00000147495]
[ENSMUST00000156918]
|
| AlphaFold |
Q6PDH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034611
AA Change: M201K
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: M201K
| 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 damaging
Transcript: ENSMUST00000123406
AA Change: M81K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114257
Gene: ENSMUSG00000048537
AA Change: M81K
| 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 damaging
Transcript: ENSMUST00000134465
AA Change: M201K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: M201K
| 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: ENSMUST00000138356
AA Change: M201K
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: M201K
| 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 damaging
Transcript: ENSMUST00000148929
AA Change: M81K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114533
Gene: ENSMUSG00000048537
AA Change: M81K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147495
AA Change: M201K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: M201K
| 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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214717
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,089,285 (GRCm39) |
K200E |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,803,225 (GRCm39) |
E687G |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
| Abcg3 |
C |
T |
5: 105,087,030 (GRCm39) |
S534N |
possibly damaging |
Het |
| Acp1 |
A |
G |
12: 30,946,113 (GRCm39) |
|
probably null |
Het |
| Adam12 |
C |
A |
7: 133,569,590 (GRCm39) |
R295L |
probably benign |
Het |
| Albfm1 |
A |
T |
5: 90,727,460 (GRCm39) |
E359D |
probably damaging |
Het |
| Alg1 |
C |
A |
16: 5,057,007 (GRCm39) |
H213Q |
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,726,149 (GRCm39) |
W410R |
possibly damaging |
Het |
| As3mt |
A |
G |
19: 46,713,373 (GRCm39) |
T307A |
possibly damaging |
Het |
| Cdc14a |
T |
C |
3: 116,115,843 (GRCm39) |
I289V |
probably damaging |
Het |
| Cdk17 |
A |
G |
10: 93,044,114 (GRCm39) |
I18V |
possibly damaging |
Het |
| Cep131 |
C |
T |
11: 119,964,562 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
A |
G |
3: 144,503,398 (GRCm39) |
Y851H |
probably benign |
Het |
| Cnih2 |
T |
C |
19: 5,144,314 (GRCm39) |
K66E |
probably benign |
Het |
| Cpsf3 |
T |
A |
12: 21,356,851 (GRCm39) |
N491K |
probably benign |
Het |
| Cux1 |
C |
T |
5: 136,304,169 (GRCm39) |
E1253K |
probably benign |
Het |
| Dcc |
A |
C |
18: 71,500,232 (GRCm39) |
L1005R |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,739,439 (GRCm39) |
M200K |
probably damaging |
Het |
| Ech1 |
A |
G |
7: 28,531,288 (GRCm39) |
Y292C |
probably damaging |
Het |
| Edc4 |
G |
T |
8: 106,617,717 (GRCm39) |
A1121S |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,832,041 (GRCm39) |
I210F |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,324,290 (GRCm39) |
T1226A |
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,108,283 (GRCm39) |
R104C |
probably damaging |
Het |
| Frzb |
T |
C |
2: 80,276,872 (GRCm39) |
I105V |
possibly damaging |
Het |
| Gli3 |
A |
G |
13: 15,888,097 (GRCm39) |
D504G |
probably damaging |
Het |
| Gm42669 |
A |
T |
5: 107,655,683 (GRCm39) |
K1161* |
probably null |
Het |
| Gm6665 |
T |
C |
18: 31,953,186 (GRCm39) |
E63G |
possibly damaging |
Het |
| Gm9923 |
T |
C |
10: 72,145,593 (GRCm39) |
V148A |
probably benign |
Het |
| Hoxc5 |
T |
C |
15: 102,922,866 (GRCm39) |
I118T |
probably benign |
Het |
| Hsp90b1 |
A |
G |
10: 86,537,609 (GRCm39) |
V232A |
possibly damaging |
Het |
| Impdh1 |
T |
A |
6: 29,207,168 (GRCm39) |
I59F |
probably damaging |
Het |
| Iqch |
G |
A |
9: 63,495,659 (GRCm39) |
P111S |
possibly damaging |
Het |
| Itih1 |
G |
T |
14: 30,651,856 (GRCm39) |
Q829K |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Kmt5b |
G |
T |
19: 3,864,833 (GRCm39) |
E632D |
probably benign |
Het |
| L2hgdh |
C |
T |
12: 69,746,340 (GRCm39) |
M373I |
probably benign |
Het |
| Map3k4 |
C |
T |
17: 12,482,906 (GRCm39) |
E604K |
probably benign |
Het |
| Mok |
T |
A |
12: 110,774,479 (GRCm39) |
Y420F |
probably benign |
Het |
| Nedd1 |
G |
A |
10: 92,534,601 (GRCm39) |
T303I |
possibly damaging |
Het |
| Nipal4 |
T |
A |
11: 46,042,160 (GRCm39) |
M174L |
probably benign |
Het |
| Or6c213 |
A |
C |
10: 129,574,578 (GRCm39) |
I69M |
probably benign |
Het |
| Pag1 |
T |
A |
3: 9,758,946 (GRCm39) |
T391S |
probably benign |
Het |
| Palm3 |
A |
G |
8: 84,755,432 (GRCm39) |
R315G |
probably benign |
Het |
| Patj |
C |
T |
4: 98,575,675 (GRCm39) |
R1177W |
probably damaging |
Het |
| Pbld2 |
G |
A |
10: 62,910,903 (GRCm39) |
|
probably null |
Het |
| Pkn2 |
A |
G |
3: 142,515,289 (GRCm39) |
F682L |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,747,392 (GRCm39) |
|
probably null |
Het |
| Plekha8 |
T |
A |
6: 54,617,959 (GRCm39) |
V518E |
probably damaging |
Het |
| Ppp1r3a |
T |
A |
6: 14,717,981 (GRCm39) |
M978L |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,564,410 (GRCm39) |
C592S |
possibly damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,546 (GRCm39) |
D118E |
possibly damaging |
Het |
| Ptprg |
T |
C |
14: 12,199,743 (GRCm38) |
V52A |
probably damaging |
Het |
| Rab27b |
A |
G |
18: 70,122,617 (GRCm39) |
M114T |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,230,723 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
G |
A |
8: 13,632,372 (GRCm39) |
P506L |
probably benign |
Het |
| Rps6kb1 |
G |
A |
11: 86,393,634 (GRCm39) |
R499* |
probably null |
Het |
| S1pr4 |
A |
G |
10: 81,335,024 (GRCm39) |
M150T |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,430,882 (GRCm39) |
D439G |
probably damaging |
Het |
| Serpina1e |
T |
C |
12: 103,917,150 (GRCm39) |
K173R |
probably benign |
Het |
| Serpina3m |
T |
A |
12: 104,355,774 (GRCm39) |
I147N |
probably damaging |
Het |
| Sh3rf3 |
G |
T |
10: 58,922,489 (GRCm39) |
G522* |
probably null |
Het |
| Smad1 |
A |
T |
8: 80,070,473 (GRCm39) |
V355E |
probably damaging |
Het |
| Srsf11 |
A |
G |
3: 157,725,065 (GRCm39) |
V211A |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stt3a |
C |
T |
9: 36,654,711 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
C |
12: 76,010,557 (GRCm39) |
V2488A |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 56,993,463 (GRCm39) |
T568A |
possibly damaging |
Het |
| Tnn |
A |
C |
1: 159,968,258 (GRCm39) |
V378G |
probably damaging |
Het |
| Trim50 |
T |
C |
5: 135,382,355 (GRCm39) |
V69A |
possibly damaging |
Het |
| Ttll10 |
A |
T |
4: 156,132,024 (GRCm39) |
D19E |
probably damaging |
Het |
| Ushbp1 |
G |
A |
8: 71,841,567 (GRCm39) |
R421C |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,042,128 (GRCm39) |
T196A |
probably benign |
Het |
| Wdr64 |
G |
A |
1: 175,639,585 (GRCm39) |
S1028N |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,369,996 (GRCm39) |
Y373C |
probably damaging |
Het |
| Zeb1 |
A |
T |
18: 5,766,298 (GRCm39) |
K216* |
probably null |
Het |
| Zfp39 |
T |
C |
11: 58,791,486 (GRCm39) |
D67G |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,394,514 (GRCm39) |
I691T |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,758,215 (GRCm39) |
V716A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,976,105 (GRCm39) |
C791* |
probably null |
Het |
| Zfp932 |
G |
A |
5: 110,144,489 (GRCm39) |
|
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 |
|
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'- TTGGTGAATGGCTAGCACAG -3'
(R):5'- TGCATGTATATGGCTCCCTG -3'
Sequencing Primer
(F):5'- CTGCTGGCTGGTGAGGAAAG -3'
(R):5'- TCCCTGGAGCCAAAAACTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation