Mutagenetix > Incidental Mutation

Incidental Mutation 'R1692:Phldb1'

191869

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

039725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R1692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44597601-44646495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44626717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 576 (E576G)

Ref Sequence

ENSEMBL: ENSMUSP00000120208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034611] [ENSMUST00000123406] [ENSMUST00000134465] [ENSMUST00000138356] [ENSMUST00000144251] [ENSMUST00000147495] [ENSMUST00000148929] [ENSMUST00000154723] [ENSMUST00000156918]

AlphaFold

Q6PDH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034611
AA Change: E576G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: E576G

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

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

noncoding transcript
Transcript: ENSMUST00000126818

Predicted Effect

unknown
Transcript: ENSMUST00000128326
AA Change: E68G

SMART Domains

Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537
AA Change: E68G

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: E576G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: E576G

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: E576G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: E576G

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

possibly damaging
Transcript: ENSMUST00000147495
AA Change: E576G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: E576G

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

unknown
Transcript: ENSMUST00000148344
AA Change: E320G

SMART Domains

Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537
AA Change: E320G

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

noncoding transcript
Transcript: ENSMUST00000214717

Predicted Effect

probably benign
Transcript: ENSMUST00000148929

SMART Domains

Protein: ENSMUSP00000114533
Gene: ENSMUSG00000048537

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 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 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: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,489,673 (GRCm39)	*582R	probably null	Het
Agfg2	A	G	5: 137,662,633 (GRCm39)	Y145H	probably damaging	Het
Aldh1a1	C	T	19: 20,608,182 (GRCm39)	P335S	probably damaging	Het
Amotl1	T	C	9: 14,463,018 (GRCm39)	R732G	possibly damaging	Het
Ankef1	A	T	2: 136,392,346 (GRCm39)	I512F	probably benign	Het
Atg9a	A	T	1: 75,166,999 (GRCm39)	D17E	probably benign	Het
Atpsckmt	T	C	15: 31,602,297 (GRCm39)		probably null	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Ccnq	T	C	11: 78,642,157 (GRCm39)	E111G	probably benign	Het
Cd79a	T	A	7: 24,600,881 (GRCm39)	M192K	probably damaging	Het
Clcn1	T	G	6: 42,290,032 (GRCm39)	F822L	possibly damaging	Het
Dnajb12	A	G	10: 59,732,199 (GRCm39)	Y346C	probably damaging	Het
Erbb3	A	G	10: 128,407,594 (GRCm39)	I918T	probably benign	Het
Fbxw20	G	T	9: 109,050,777 (GRCm39)	T377K	possibly damaging	Het
Fry	A	G	5: 150,293,692 (GRCm39)	I462V	probably damaging	Het
Gmip	A	G	8: 70,266,553 (GRCm39)	N251S	probably benign	Het
Gpx1	A	G	9: 108,216,674 (GRCm39)	T55A	possibly damaging	Het
Hmcn2	T	C	2: 31,340,856 (GRCm39)	V4443A	possibly damaging	Het
Kdm4d	A	T	9: 14,375,807 (GRCm39)	I17K	probably benign	Het
Lamc3	A	G	2: 31,811,793 (GRCm39)	S927G	probably null	Het
Map7d1	G	A	4: 126,136,101 (GRCm39)	P36S	probably damaging	Het
Mfsd13a	C	A	19: 46,360,515 (GRCm39)	H356N	probably benign	Het
Mtap	C	T	4: 89,095,151 (GRCm39)	R268C	probably benign	Het
Myo1a	C	T	10: 127,555,203 (GRCm39)		probably null	Het
Myom3	T	C	4: 135,502,862 (GRCm39)	L313P	probably benign	Het
Nrxn2	T	A	19: 6,569,298 (GRCm39)	V1391E	probably damaging	Het
Otoa	A	C	7: 120,690,774 (GRCm39)	Q3P	probably damaging	Het
Pigw	A	C	11: 84,767,892 (GRCm39)	L479R	probably damaging	Het
Pip5k1a	A	G	3: 94,971,041 (GRCm39)	I507T	probably benign	Het
Ppp4r3b	T	A	11: 29,138,123 (GRCm39)	I157N	probably benign	Het
Rrm2b	G	A	15: 37,927,566 (GRCm39)	R115*	probably null	Het
Sall1	C	T	8: 89,755,028 (GRCm39)	S1317N	probably benign	Het
Serpinb6b	T	G	13: 33,158,978 (GRCm39)	F179V	probably damaging	Het
Slc4a8	T	A	15: 100,698,454 (GRCm39)	F648I	probably damaging	Het
Slc5a7	T	C	17: 54,588,754 (GRCm39)	T298A	probably damaging	Het
Slit3	T	C	11: 35,550,171 (GRCm39)	L830P	probably damaging	Het
Smarcc1	T	A	9: 110,003,072 (GRCm39)	N387K	possibly damaging	Het
Tanc2	C	T	11: 105,748,326 (GRCm39)	T486I	probably benign	Het
Tdp1	C	T	12: 99,921,260 (GRCm39)	P599S	probably damaging	Het
Tmem33	A	G	5: 67,425,897 (GRCm39)	D38G	probably null	Het
Uvrag	C	T	7: 98,653,870 (GRCm39)	R247Q	probably benign	Het
Vars1	T	C	17: 35,232,701 (GRCm39)	V875A	probably damaging	Het
Vcl	A	G	14: 21,074,250 (GRCm39)	E879G	probably damaging	Het
Vmn1r231	C	T	17: 21,110,871 (GRCm39)	V15I	probably benign	Het
Zfp609	T	C	9: 65,702,593 (GRCm39)	T20A	probably damaging	Het
Zfp747l1	G	T	7: 126,983,652 (GRCm39)	H483Q	possibly damaging	Het
Zfp959	T	A	17: 56,205,299 (GRCm39)	H445Q	probably damaging	Het
Zmiz2	T	A	11: 6,350,795 (GRCm39)	V515E	probably damaging	Het
Zmym5	G	A	14: 57,041,650 (GRCm39)	T151M	probably damaging	Het
Zxdc	C	T	6: 90,355,933 (GRCm39)	Q481*	probably null	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
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'- TGATGGTTCATCCTGAATCCGCCC -3'
(R):5'- CGTTGAGTCCATCTCTGTCTCGAAG -3'

Sequencing Primer
(F):5'- TGTACATGGCCCCTCCTG -3'
(R):5'- TCCCTGACTCTAGGAGCAC -3'

Posted On

2014-05-14