Mutagenetix > Incidental Mutations

Incidental Mutation 'R0364:Phldb1'

30237

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

038570-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R0364 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

44686304-44735198 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 44699335 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034611] [ENSMUST00000123310] [ENSMUST00000134465] [ENSMUST00000135436] [ENSMUST00000138356] [ENSMUST00000144251] [ENSMUST00000147495] [ENSMUST00000154723] [ENSMUST00000156918]

Predicted Effect

probably benign
Transcript: ENSMUST00000034611

SMART Domains

Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537

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: 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

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

noncoding transcript
Transcript: ENSMUST00000129806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133312

Predicted Effect

probably benign
Transcript: ENSMUST00000134465

SMART Domains

Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537

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: ENSMUST00000135436

SMART Domains

Protein: ENSMUSP00000120023
Gene: ENSMUSG00000048537

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 benign
Transcript: ENSMUST00000138356

SMART Domains

Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537

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

SMART Domains

Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537

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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,611,128		probably benign	Het
Ano7	A	G	1: 93,388,658	D221G	probably benign	Het
Arhgef12	A	T	9: 43,018,401	N199K	probably damaging	Het
Arpc2	A	G	1: 74,236,887	N26S	probably null	Het
BC017158	C	T	7: 128,290,614	R1H	probably damaging	Het
Camta2	G	A	11: 70,683,310	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,798,216	N665I	probably damaging	Het
Ccdc178	C	T	18: 21,915,062	R757H	probably damaging	Het
Cfap52	A	C	11: 67,953,610	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,614,517	L141H	probably damaging	Het
Crybb3	T	A	5: 113,075,953	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,707,267	P97S	probably benign	Het
Cubn	T	C	2: 13,310,507		probably benign	Het
Cyp2d37-ps	T	C	15: 82,690,052		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,432,920	N223K	probably benign	Het
Dennd2a	T	C	6: 39,508,299	T349A	probably benign	Het
Dnah12	A	G	14: 26,724,473	T730A	probably benign	Het
Dock5	G	A	14: 67,822,680		probably benign	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,564,493	K503*	probably null	Het
Endou	A	T	15: 97,718,973		probably benign	Het
Eng	T	C	2: 32,679,137	S559P	probably benign	Het
Epc2	T	A	2: 49,537,133	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,432,441	S40P	possibly damaging	Het
Flt4	A	T	11: 49,636,991	M924L	probably benign	Het
Fyb	A	G	15: 6,580,791	K282E	probably damaging	Het
Gabpa	T	A	16: 84,857,387	N317K	possibly damaging	Het
Gli3	G	T	13: 15,724,764	G912V	probably benign	Het
Gm10295	C	A	7: 71,350,613	C73F	unknown	Het
Gm10382	G	T	5: 125,389,664		probably benign	Het
Gp1ba	T	C	11: 70,640,458		probably benign	Het
Gpr146	G	A	5: 139,379,178		probably benign	Het
Grm5	A	G	7: 88,074,386	Y628C	probably damaging	Het
Hexa	A	G	9: 59,563,935	N491D	probably benign	Het
Hexdc	T	A	11: 121,212,143	H62Q	probably benign	Het
Hpx	G	T	7: 105,596,264	Q101K	probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Inpp4b	A	T	8: 81,997,314	T492S	probably benign	Het
Iqgap2	A	C	13: 95,731,275		probably benign	Het
Islr2	T	C	9: 58,199,744	T78A	possibly damaging	Het
Itga9	A	G	9: 118,841,142	T177A	probably benign	Het
Itpkc	A	C	7: 27,227,749	S247A	possibly damaging	Het
Kirrel	T	C	3: 87,089,799	Y287C	probably damaging	Het
Kiz	T	G	2: 146,942,156	S536R	probably benign	Het
Klhl9	T	G	4: 88,720,290	K571N	probably benign	Het
Kprp	A	T	3: 92,824,335	Y469*	probably null	Het
Ksr1	A	T	11: 79,029,025		probably benign	Het
Lrrc37a	C	T	11: 103,500,640	V1320I	possibly damaging	Het
Ltf	A	T	9: 111,025,167	N350I	probably benign	Het
Msl3l2	G	A	10: 56,115,851	R224Q	possibly damaging	Het
Myh6	A	T	14: 54,948,347	Y1490*	probably null	Het
Necap1	A	G	6: 122,880,769		probably benign	Het
Nf1	A	T	11: 79,441,957	K810*	probably null	Het
Nkx6-3	A	G	8: 23,157,706	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,114,004		probably benign	Het
Obscn	G	A	11: 59,128,281	A969V	probably benign	Het
Olfr1080	A	T	2: 86,553,779	L115Q	probably damaging	Het
Olfr850	G	A	9: 19,477,972	Q90*	probably null	Het
Olfr889	A	G	9: 38,116,029	T78A	probably benign	Het
Olfr96	T	C	17: 37,226,043	L306P	possibly damaging	Het
Pcdhb17	C	A	18: 37,485,835	A226E	possibly damaging	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156	Q288*	probably null	Het
Prr14	G	A	7: 127,474,579	R205H	probably benign	Het
Ptpn13	C	A	5: 103,533,348	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,747,553	V62D	probably damaging	Het
Rab37	G	T	11: 115,156,964	C44F	probably damaging	Het
Rbm44	T	C	1: 91,152,347	S52P	probably benign	Het
Scn5a	T	C	9: 119,522,599	D772G	probably damaging	Het
Slc7a5	A	G	8: 121,885,015	F425L	probably benign	Het
Slk	T	A	19: 47,620,189	L527*	probably null	Het
Stpg4	T	A	17: 87,389,714		probably null	Het
Taar6	C	A	10: 23,985,148	V167L	probably benign	Het
Tas2r123	T	A	6: 132,847,681	S180R	probably benign	Het
Tmc2	C	T	2: 130,202,103	R86W	probably benign	Het
Tmem200c	T	A	17: 68,840,548	V42E	probably damaging	Het
Trhde	T	C	10: 114,502,982		probably benign	Het
Tshz1	A	T	18: 84,016,124	I53N	probably benign	Het
Tshz3	A	G	7: 36,770,533	E649G	probably benign	Het
Ttll7	C	A	3: 146,945,181	R719S	possibly damaging	Het
Utp4	T	C	8: 106,898,537		probably benign	Het
Vmn1r35	A	G	6: 66,678,843	I281T	probably damaging	Het
Vps39	T	G	2: 120,345,638	K76T	probably damaging	Het
Wdr60	A	G	12: 116,257,477		probably benign	Het
Whamm	A	G	7: 81,594,051	T674A	probably benign	Het
Zbtb16	A	G	9: 48,743,576		probably benign	Het
Zfp623	T	C	15: 75,948,661	S489P	probably benign	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	unclassified	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
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
R7077:Phldb1	UTSW	9	44711904	missense	possibly damaging	0.62
R7307:Phldb1	UTSW	9	44694047	missense	possibly damaging	0.62
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'- ACGGGAAACCACTTCTGAAGATCAC -3'
(R):5'- CCCAATACCAGTGCTCTCGTACATC -3'

Sequencing Primer
(F):5'- CTTTGAGATGTCACAGGCAAC -3'
(R):5'- TCGTACATCCCTACCCAGAGTG -3'

Posted On

2013-04-24