Mutagenetix > Incidental Mutations

Incidental Mutation 'R2567:Phldb1'

254561

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

040426-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R2567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44686304-44735198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44726025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 114 (T114A)

Ref Sequence

ENSEMBL: ENSMUSP00000120208 (fasta)

Gene Model

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

AlphaFold

Q6PDH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034611
AA Change: T114A

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: T114A

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

noncoding transcript
Transcript: ENSMUST00000123003

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

probably benign
Transcript: ENSMUST00000134465
AA Change: T114A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: T114A

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: T114A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: T114A

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

possibly damaging
Transcript: ENSMUST00000147495
AA Change: T114A

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: T114A

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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,870,251	D409G	probably benign	Het
Akap10	A	G	11: 61,893,349		probably benign	Het
Akap6	G	T	12: 52,938,373	S863I	probably damaging	Het
Ap1s3	T	C	1: 79,625,204	K29E	possibly damaging	Het
Atm	T	A	9: 53,457,470	I2341L	possibly damaging	Het
Atp12a	A	T	14: 56,386,927	D944V	probably damaging	Het
Baz2b	A	T	2: 59,913,911	S1417T	possibly damaging	Het
C130079G13Rik	A	G	3: 59,929,054		probably benign	Het
Cacna1a	T	A	8: 84,549,725	M613K	probably damaging	Het
Ccdc191	A	C	16: 43,943,967		probably null	Het
Cd209d	T	A	8: 3,876,327	N96I	probably damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Cdk4	T	G	10: 127,064,276	V14G	probably benign	Het
Chrna10	C	A	7: 102,112,069	M438I	probably benign	Het
Clec10a	T	C	11: 70,169,532		probably null	Het
Cog3	A	G	14: 75,754,290	V40A	probably benign	Het
Creb3l3	T	C	10: 81,086,049	H315R	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cubn	A	G	2: 13,278,356		probably null	Het
Cygb	T	C	11: 116,649,866	D98G	probably damaging	Het
Dmbx1	T	C	4: 115,920,292	K120E	probably damaging	Het
Dnah3	T	A	7: 119,952,697	I2800F	possibly damaging	Het
Dntt	G	T	19: 41,041,336	R245L	possibly damaging	Het
Dock1	T	G	7: 135,145,484	V1508G	probably damaging	Het
Enpp4	A	C	17: 44,101,845	I266R	probably damaging	Het
Fhl4	T	C	10: 85,098,780	I46V	possibly damaging	Het
Fn1	G	A	1: 71,597,736	Q1995*	probably null	Het
Foxo1	T	A	3: 52,269,334	L178H	probably damaging	Het
Galnt18	C	T	7: 111,554,616	R267H	probably damaging	Het
Gm1110	T	C	9: 26,920,696	D53G	probably benign	Het
Gm12666	T	C	4: 92,191,323	E87G	probably benign	Het
Gm5294	A	G	5: 138,820,185	S36G	probably null	Het
Gm7104	A	T	12: 88,285,472		noncoding transcript	Het
H2-M11	C	T	17: 36,548,150	T194I	possibly damaging	Het
Haus6	C	A	4: 86,585,885	E501*	probably null	Het
Ifna5	T	C	4: 88,835,910	V129A	probably benign	Het
Kdelr3	A	G	15: 79,522,831	I38V	probably benign	Het
Lamb1	A	G	12: 31,269,055		probably null	Het
Mgat4c	T	A	10: 102,378,262	F35L	probably benign	Het
Mmab	A	T	5: 114,433,317	M166K	probably benign	Het
Mrpl2	A	G	17: 46,647,501	T70A	probably benign	Het
Naa11	C	T	5: 97,391,759	G180D	probably benign	Het
Npy6r	T	C	18: 44,275,821	V103A	possibly damaging	Het
Nup188	A	T	2: 30,341,782	R1463W	possibly damaging	Het
Nusap1	T	A	2: 119,643,830	S336R	possibly damaging	Het
Olfr876	T	A	9: 37,804,213	F101I	probably damaging	Het
Pabpc4	T	A	4: 123,297,951	L589Q	probably damaging	Het
Pcdh12	T	A	18: 38,282,096	N659Y	probably damaging	Het
Perm1	T	C	4: 156,217,118	S40P	probably damaging	Het
Pirt	C	T	11: 66,926,159	L99F	probably damaging	Het
Plxdc2	A	G	2: 16,712,184	R360G	probably benign	Het
Rhpn2	G	A	7: 35,381,532		probably null	Het
Rpusd2	T	A	2: 119,037,075	I268N	probably damaging	Het
Sds	G	T	5: 120,481,581	W185L	probably damaging	Het
Serpinb5	A	G	1: 106,875,146	K137R	probably benign	Het
Sh3pxd2a	A	G	19: 47,424,569	V25A	possibly damaging	Het
Slc1a2	C	T	2: 102,767,010	T454I	probably damaging	Het
Slc25a40	T	C	5: 8,430,459	C70R	probably damaging	Het
Smoc1	G	A	12: 81,167,590	E260K	probably damaging	Het
Sparcl1	A	T	5: 104,085,088	F616I	probably damaging	Het
Ssc5d	A	T	7: 4,936,335	D590V	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpm2	C	T	10: 77,941,174	V430M	probably damaging	Het
Ttn	T	C	2: 76,744,328	D25407G	probably damaging	Het
Vmn2r68	T	C	7: 85,234,595	I101V	probably benign	Het
Xrcc4	A	T	13: 90,062,142	M61K	probably damaging	Het
Zfp648	A	G	1: 154,204,949	T285A	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
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
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'- ACCTACACTGATGGAGAGCC -3'
(R):5'- CTGGATAATCGTTCTGACTCAGTTTG -3'

Sequencing Primer
(F):5'- TGGAGAGCCAACCATCTAACTG -3'
(R):5'- GACTCAGTTTGTCTCCTGTCTCCAG -3'

Posted On

2014-12-04