Mutagenetix > Incidental Mutation

Incidental Mutation 'R5651:Phldb1'

441429

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

043297-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5651 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44597601-44646495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44623200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 618 (T618I)

Ref Sequence

ENSEMBL: ENSMUSP00000117395 (fasta)

Gene Model

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

AlphaFold

Q6PDH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034611
AA Change: T618I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: T618I

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

unknown
Transcript: ENSMUST00000128326
AA Change: T110I

SMART Domains

Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537
AA Change: T110I

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: T618I

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

SMART Domains

Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: T618I

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: T618I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: T618I

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: T618I

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

SMART Domains

Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: T618I

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: T362I

SMART Domains

Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537
AA Change: T362I

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	A	11: 48,910,700 (GRCm39)	H578Y	probably damaging	Het
Atp11b	A	G	3: 35,909,289 (GRCm39)	D1161G	probably damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
AY358078	T	A	14: 52,059,617 (GRCm39)	V318D	unknown	Het
B020004C17Rik	C	T	14: 57,252,689 (GRCm39)		probably benign	Het
Boc	T	A	16: 44,341,558 (GRCm39)	I16F	probably benign	Het
Brinp3	A	T	1: 146,577,537 (GRCm39)	T191S	probably benign	Het
Cald1	T	A	6: 34,739,255 (GRCm39)	N419K	probably damaging	Het
Cecr2	G	A	6: 120,732,521 (GRCm39)	G471D	probably damaging	Het
Cftr	T	A	6: 18,255,364 (GRCm39)		probably null	Het
Cyp2c38	T	A	19: 39,449,156 (GRCm39)	T66S	probably damaging	Het
Fbxo11	A	T	17: 88,323,136 (GRCm39)	D83E	probably benign	Het
Fshr	T	A	17: 89,293,257 (GRCm39)	M474L	possibly damaging	Het
Hhla1	T	A	15: 65,813,663 (GRCm39)	E223V	probably damaging	Het
Hnrnpa1	G	C	15: 103,148,955 (GRCm39)	E5D	possibly damaging	Het
Htr2a	T	A	14: 74,943,143 (GRCm39)	V241E	probably damaging	Het
Ier5	T	C	1: 154,974,491 (GRCm39)	E229G	possibly damaging	Het
Inka2	C	A	3: 105,623,748 (GRCm39)	Q22K	probably damaging	Het
Krt87	A	T	15: 101,331,910 (GRCm39)	M276K	possibly damaging	Het
Mast1	G	C	8: 85,655,597 (GRCm39)	Y182*	probably null	Het
Mia3	T	A	1: 183,139,998 (GRCm39)	D239V	probably damaging	Het
Mmut	T	A	17: 41,258,002 (GRCm39)	D389E	probably damaging	Het
Mpp7	A	G	18: 7,355,016 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,520,101 (GRCm39)	C739R	probably null	Het
Or13e8	C	G	4: 43,696,636 (GRCm39)	C179S	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or8k21	A	G	2: 86,144,784 (GRCm39)	I282T	probably benign	Het
Or9e1	A	T	11: 58,732,317 (GRCm39)	R126*	probably null	Het
Palld	A	T	8: 61,991,822 (GRCm39)	I510N	probably damaging	Het
Pappa	A	G	4: 65,074,589 (GRCm39)	E381G	probably damaging	Het
Pkd1	A	G	17: 24,810,361 (GRCm39)	E3631G	possibly damaging	Het
Pkhd1	C	T	1: 20,188,031 (GRCm39)	V3426I	probably benign	Het
Plk4	A	G	3: 40,767,940 (GRCm39)	T828A	probably benign	Het
Psmb5	C	T	14: 54,854,221 (GRCm39)	A86T	possibly damaging	Het
Rasal2	A	G	1: 156,984,951 (GRCm39)	V907A	probably damaging	Het
Rxra	C	T	2: 27,627,353 (GRCm39)	T24M	probably benign	Het
Senp1	A	G	15: 97,974,498 (GRCm39)	S105P	probably benign	Het
Sh3rf1	A	G	8: 61,816,201 (GRCm39)	D486G	probably damaging	Het
Slc49a4	G	A	16: 35,555,986 (GRCm39)	A158V	probably benign	Het
Slfn5	A	C	11: 82,851,490 (GRCm39)	N596H	probably benign	Het
Tanc2	T	A	11: 105,689,526 (GRCm39)	D229E	probably benign	Het
Taok2	T	C	7: 126,479,455 (GRCm39)	K57E	probably damaging	Het
Thsd7a	C	T	6: 12,343,212 (GRCm39)	C1135Y	probably damaging	Het
V1ra8	T	C	6: 90,180,508 (GRCm39)	L237P	probably benign	Het
Vcpip1	G	A	1: 9,818,065 (GRCm39)	T106M	probably damaging	Het
Vmn1r215	T	G	13: 23,259,981 (GRCm39)	I7S	possibly damaging	Het
Vmn1r233	T	A	17: 21,214,279 (GRCm39)	M224L	probably benign	Het
Xpot	A	T	10: 121,440,454 (GRCm39)	D592E	probably damaging	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
R1692:Phldb1	UTSW	9	44,626,717 (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
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'- TTCATCAGAGCGCTCCATG -3'
(R):5'- TTGCCCACCTTTGAGGAACC -3'

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

Posted On

2016-11-08