Mutagenetix > Incidental Mutations

Incidental Mutation 'R7077:Phldb1'

549283

Institutional Source

Beutler Lab

Gene Symbol

Phldb1

Ensembl Gene

ENSMUSG00000048537

Gene Name

pleckstrin homology like domain, family B, member 1

Synonyms

LL5A, D330037A14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44686304-44735198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44711904 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 618 (T618A)

Ref Sequence

ENSEMBL: ENSMUSP00000034611 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034611
AA Change: T618A

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: T618A

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: T110A

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: T618A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: T618A

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: T618A

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: T618A

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: T618A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: T618A

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: T362A

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: 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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,559,119	C623Y	probably damaging	Het
Ago3	T	C	4: 126,371,532	K322R	probably null	Het
Ankrd17	T	C	5: 90,285,864	H682R	possibly damaging	Het
Aoah	A	G	13: 20,910,106	D187G	probably damaging	Het
Arhgap17	T	C	7: 123,280,008	D840G	unknown	Het
AW551984	C	T	9: 39,591,427	V650I	probably benign	Het
BC051142	C	A	17: 34,440,882	T93N	possibly damaging	Het
Bok	T	A	1: 93,689,189	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,305,274	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,269,340	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,455,677	I977S	unknown	Het
Cobl	T	C	11: 12,253,441	N1087S	probably benign	Het
Cyp21a1	C	A	17: 34,802,359	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,670,664	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,433,801	I120S	probably damaging	Het
Enpp2	A	C	15: 54,901,391	D146E	probably benign	Het
Exosc9	T	C	3: 36,553,056	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,377,672	G300S	probably benign	Het
Focad	C	A	4: 88,410,677	A1709E	unknown	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fsip2	T	C	2: 82,983,152	F3272L	probably benign	Het
Gcnt2	G	A	13: 40,860,420	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928	E50G	probably damaging	Het
Gm10375	G	T	14: 43,602,970	T162K	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gm4924	T	C	10: 82,379,223	F952L	unknown	Het
Heatr1	T	C	13: 12,418,164	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,191	Y442H	unknown	Het
Hp1bp3	C	A	4: 138,239,618	T408N	probably damaging	Het
Htra3	A	G	5: 35,668,316	V198A	probably damaging	Het
Katnal1	T	C	5: 148,891,737	T300A	probably benign	Het
Lipo5	G	T	19: 33,467,770	P133Q		Het
Lrp1b	A	T	2: 41,770,846	H197Q		Het
Mdc1	C	A	17: 35,845,947	A82D	probably damaging	Het
Mstn	A	T	1: 53,064,249	D248V	probably benign	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ola1	G	A	2: 73,141,964	T221I	probably damaging	Het
Olfr1086	T	C	2: 86,676,892	Y147C	possibly damaging	Het
Olfr67	A	G	7: 103,787,386	I297T	probably damaging	Het
Olfr857	T	A	9: 19,713,132	S102T	probably benign	Het
Olfr898	T	A	9: 38,349,970	Y290N	probably damaging	Het
Pkd1	T	G	17: 24,591,119	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,276,103	N190I	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,143,570	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,241,476	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Smarcd3	G	T	5: 24,594,962	A270D	probably damaging	Het
Srgap2	A	G	1: 131,344,449	M33T		Het
Tle1	G	C	4: 72,158,375	P139A	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Zfp658	T	A	7: 43,573,989	S563T	probably benign	Het
Zswim9	G	A	7: 13,259,752	R826C	probably damaging	Het

Other mutations in Phldb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Phldb1	APN	9	44711146	critical splice donor site	probably null
IGL01089:Phldb1	APN	9	44707887	nonsense	probably null
IGL01374:Phldb1	APN	9	44696167	missense	probably damaging	0.98
IGL01654:Phldb1	APN	9	44718357	splice site	probably null
IGL02148:Phldb1	APN	9	44696072	missense	probably damaging	0.99
IGL02408:Phldb1	APN	9	44715906	missense	possibly damaging	0.50
IGL02429:Phldb1	APN	9	44700950	missense	probably damaging	1.00
IGL02440:Phldb1	APN	9	44715403	missense	probably damaging	0.99
IGL02457:Phldb1	APN	9	44716474	missense	probably benign	0.00
IGL02471:Phldb1	APN	9	44711233	missense	probably damaging	1.00
IGL02506:Phldb1	APN	9	44710926	missense	probably benign	0.00
IGL03335:Phldb1	APN	9	44728069	missense	possibly damaging	0.95
PIT4515001:Phldb1	UTSW	9	44715960	missense	probably benign	0.00
R0070:Phldb1	UTSW	9	44707904	missense	probably damaging	1.00
R0117:Phldb1	UTSW	9	44711706	start codon destroyed	probably null
R0344:Phldb1	UTSW	9	44701667	missense	probably benign	0.14
R0364:Phldb1	UTSW	9	44699335	splice site	probably benign
R0622:Phldb1	UTSW	9	44715852	missense	probably damaging	1.00
R0737:Phldb1	UTSW	9	44699636	missense	possibly damaging	0.92
R1449:Phldb1	UTSW	9	44716633	missense	probably benign	0.17
R1498:Phldb1	UTSW	9	44701618	missense	possibly damaging	0.70
R1633:Phldb1	UTSW	9	44718322	missense	probably damaging	1.00
R1647:Phldb1	UTSW	9	44715433	missense	probably damaging	1.00
R1692:Phldb1	UTSW	9	44715420	missense	probably damaging	1.00
R1749:Phldb1	UTSW	9	44715748	missense	probably damaging	1.00
R1797:Phldb1	UTSW	9	44716545	missense	probably damaging	0.99
R2012:Phldb1	UTSW	9	44728036	missense	possibly damaging	0.67
R2078:Phldb1	UTSW	9	44707979	missense	probably damaging	1.00
R2208:Phldb1	UTSW	9	44696131	missense	probably damaging	1.00
R2567:Phldb1	UTSW	9	44726025	missense	probably damaging	0.99
R2696:Phldb1	UTSW	9	44718288	missense	probably damaging	1.00
R3705:Phldb1	UTSW	9	44694394	missense	probably damaging	0.97
R4110:Phldb1	UTSW	9	44715831	missense	possibly damaging	0.88
R4772:Phldb1	UTSW	9	44711027	missense	probably damaging	1.00
R4857:Phldb1	UTSW	9	44696092	missense	probably damaging	0.99
R5148:Phldb1	UTSW	9	44704158	missense	probably benign	0.04
R5651:Phldb1	UTSW	9	44711903	missense	probably damaging	1.00
R5666:Phldb1	UTSW	9	44715781	missense	probably damaging	0.97
R5670:Phldb1	UTSW	9	44715781	missense	probably damaging	0.97
R5914:Phldb1	UTSW	9	44711651	missense	probably damaging	0.97
R6232:Phldb1	UTSW	9	44696117	missense	probably damaging	1.00
R6257:Phldb1	UTSW	9	44696140	missense	probably damaging	0.99
R6413:Phldb1	UTSW	9	44696143	missense	probably damaging	1.00
R6418:Phldb1	UTSW	9	44711900	missense	probably damaging	1.00
R6813:Phldb1	UTSW	9	44699568	missense	probably damaging	1.00
R6845:Phldb1	UTSW	9	44716062	missense	probably damaging	1.00
R7009:Phldb1	UTSW	9	44694408	missense	probably damaging	1.00
R7042:Phldb1	UTSW	9	44694424	missense	probably damaging	1.00
R7062:Phldb1	UTSW	9	44696135	missense	probably damaging	0.99
R7307:Phldb1	UTSW	9	44694047	missense	possibly damaging	0.62
R7995:Phldb1	UTSW	9	44715372	missense	probably damaging	1.00
R8108:Phldb1	UTSW	9	44711161	missense	probably damaging	1.00
R8433:Phldb1	UTSW	9	44716462	missense	probably damaging	1.00
RF020:Phldb1	UTSW	9	44697946	missense	probably damaging	1.00
X0020:Phldb1	UTSW	9	44687677	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCATCAGAGCGCTCCATGC -3'
(R):5'- TTGCCCACCTTTGAGGAACC -3'

Sequencing Primer
(F):5'- ATGCTCTCCCACAGGCG -3'
(R):5'- TGGCCTCAGATGCTAAGATCC -3'

Posted On

2019-05-15