Mutagenetix > Incidental Mutation

Incidental Mutation 'R1647:Phldb1'

173958

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

039683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R1647 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

44686304-44735198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44715433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 572 (P572S)

Ref Sequence

ENSEMBL: ENSMUSP00000117395 (fasta)

Gene Model

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

AlphaFold

Q6PDH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034611
AA Change: P572S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: P572S

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: P64S

SMART Domains

Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537
AA Change: P64S

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: P572S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: P572S

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: P572S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: P572S

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: ENSMUST00000147495
AA Change: P572S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: P572S

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: P316S

SMART Domains

Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537
AA Change: P316S

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: 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

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

noncoding transcript
Transcript: ENSMUST00000214717

Meta Mutation Damage Score

0.2472

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,505,571	S184P	probably damaging	Het
Adgb	A	G	10: 10,395,371	F817L	probably damaging	Het
Anxa10	T	C	8: 62,092,584	D38G	probably damaging	Het
Atp8b2	G	A	3: 89,941,784	A1081V	probably benign	Het
Baz1a	G	A	12: 54,975,198	R100C	probably damaging	Het
Ceacam18	A	C	7: 43,639,265	T147P	possibly damaging	Het
Cep170b	C	T	12: 112,736,372	T423I	probably damaging	Het
Chd6	A	G	2: 161,042,058	L89S	probably damaging	Het
Chrm3	A	T	13: 9,878,425	W192R	probably damaging	Het
Cnn1	C	A	9: 22,107,854	A202E	probably damaging	Het
Dcaf7	T	A	11: 106,051,802	F192I	probably damaging	Het
Eif2b5	T	C	16: 20,502,585	V296A	possibly damaging	Het
Entpd7	A	G	19: 43,721,745		probably benign	Het
Esr1	A	G	10: 5,001,260	E546G	possibly damaging	Het
Etaa1	C	A	11: 17,946,492	G542C	probably damaging	Het
Exosc8	A	T	3: 54,734,101		probably null	Het
Fras1	T	A	5: 96,726,613		probably null	Het
G930045G22Rik	T	C	6: 50,846,718		noncoding transcript	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,301,883		probably benign	Het
Gm5615	A	G	9: 36,534,440	S72P	possibly damaging	Het
Gpr155	T	C	2: 73,364,164		probably null	Het
Has1	A	G	17: 17,849,985	Y225H	probably damaging	Het
Hk3	A	G	13: 55,014,461	F110S	probably damaging	Het
Iars	A	G	13: 49,723,002	K848E	possibly damaging	Het
Il22ra1	C	A	4: 135,750,460	H281N	probably damaging	Het
Inpp4b	G	T	8: 81,856,774		probably benign	Het
Itga11	A	G	9: 62,760,370	N662D	probably benign	Het
Kif20b	A	T	19: 34,936,790	T355S	possibly damaging	Het
Kif21a	T	C	15: 90,994,367	T237A	probably damaging	Het
Klc1	T	C	12: 111,776,887	L216P	probably damaging	Het
Krt84	G	A	15: 101,525,963	S523F	possibly damaging	Het
Lama3	A	G	18: 12,532,199	D2330G	possibly damaging	Het
Lamb2	G	A	9: 108,481,423		probably null	Het
Limch1	T	A	5: 66,999,256	S511R	probably damaging	Het
Lnx2	C	A	5: 147,027,342	V468L	probably benign	Het
Lrriq1	A	T	10: 103,170,648	C1205*	probably null	Het
Lsm4	A	G	8: 70,677,806	Y25C	probably damaging	Het
Macc1	T	C	12: 119,446,421	M308T	probably benign	Het
Miip	T	C	4: 147,865,234	S174G	probably benign	Het
Mroh9	T	G	1: 163,046,056	E510A	probably damaging	Het
Msh2	C	T	17: 87,672,636	A14V	probably benign	Het
Nbea	T	A	3: 55,630,229	I2828F	probably damaging	Het
Nkx2-3	A	T	19: 43,614,456	Q167L	probably damaging	Het
Nup160	T	C	2: 90,710,088	Y854H	probably damaging	Het
Olfr1436	T	A	19: 12,298,659	I158L	probably benign	Het
Olfr519	A	G	7: 108,893,765	I214T	probably damaging	Het
Olfr642	A	G	7: 104,050,169	Y62H	probably damaging	Het
Plcb2	A	T	2: 118,723,780	M64K	possibly damaging	Het
Prr12	T	A	7: 45,034,192	N1683Y	probably benign	Het
Prrg4	C	A	2: 104,832,743	A173S	probably benign	Het
Pygl	T	A	12: 70,197,010	I553F	possibly damaging	Het
Rasd1	T	C	11: 59,964,094	M187V	probably benign	Het
Rasgrf1	A	G	9: 89,953,920	I234V	probably benign	Het
Rps6ka4	C	A	19: 6,839,362	V118L	probably benign	Het
Sbspon	C	A	1: 15,883,759	R99L	probably damaging	Het
Sdhaf3	T	C	6: 6,956,126	Y34H	probably damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Shc2	T	A	10: 79,626,111	M367L	probably benign	Het
Slc26a5	T	A	5: 21,813,976	K590*	probably null	Het
Slc39a12	T	C	2: 14,451,992	V597A	probably benign	Het
Slc45a3	G	A	1: 131,977,524	G81D	probably damaging	Het
Spata2l	T	C	8: 123,233,302	N416S	probably benign	Het
Tdrd6	A	C	17: 43,627,109	V1016G	possibly damaging	Het
Tet2	A	G	3: 133,485,880	V931A	probably benign	Het
Tmem190	A	G	7: 4,784,121	D108G	probably damaging	Het
Trip11	T	A	12: 101,884,392	K853*	probably null	Het
Vmn2r111	A	T	17: 22,569,061	D436E	probably benign	Het
Zfp704	A	T	3: 9,471,039	S140R	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
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
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
R9151:Phldb1	UTSW	9	44708443	missense	probably null	0.01
R9366:Phldb1	UTSW	9	44711249	missense	possibly damaging	0.93
R9378:Phldb1	UTSW	9	44704128	missense	probably benign	0.01
R9448:Phldb1	UTSW	9	44711249	missense	possibly damaging	0.93
R9539:Phldb1	UTSW	9	44716185	missense	probably damaging	1.00
R9641:Phldb1	UTSW	9	44716542	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'- CCTGATGGTTCATCCTGAATCCGC -3'
(R):5'- CGTTGAGTCCATCTCTGTCTCGAAG -3'

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

Posted On

2014-04-24