Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02429:Phldb1'

293062

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phldb1

Ensembl Gene

ENSMUSG00000048537

Gene Name

pleckstrin homology like domain, family B, member 1

Synonyms

D330037A14Rik, LL5A

Accession Numbers

Essential gene?

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

Stock #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

44597601-44646495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44612247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1019 (L1019P)

Ref Sequence

ENSEMBL: ENSMUSP00000120208 (fasta)

Gene Model

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

AlphaFold

Q6PDH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034611
AA Change: L963P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: L963P

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

possibly damaging
Transcript: ENSMUST00000135436
AA Change: L87P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120023
Gene: ENSMUSG00000048537
AA Change: L87P

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 damaging
Transcript: ENSMUST00000138356
AA Change: L1019P

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

SMART Domains

Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: L1019P

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: ENSMUST00000147495
AA Change: L963P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: L963P

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: L707P

SMART Domains

Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537
AA Change: L707P

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

unknown
Transcript: ENSMUST00000154723
AA Change: L216P

SMART Domains

Protein: ENSMUSP00000116987
Gene: ENSMUSG00000048537
AA Change: L216P

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: 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: 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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	A	T	1: 127,687,453 (GRCm39)	D245V	probably damaging	Het
Adamts16	G	A	13: 70,935,289 (GRCm39)		probably benign	Het
Arhgap36	A	G	X: 48,583,583 (GRCm39)	D77G	possibly damaging	Het
Asap1	A	T	15: 64,039,589 (GRCm39)	M187K	probably damaging	Het
Aspm	T	C	1: 139,407,548 (GRCm39)	V2145A	probably benign	Het
Ccn6	T	C	10: 39,030,989 (GRCm39)	N178S	probably benign	Het
Cd46	T	C	1: 194,767,732 (GRCm39)	T110A	probably benign	Het
Chl1	T	A	6: 103,641,770 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,533,896 (GRCm39)	L493S	probably damaging	Het
Col11a2	C	T	17: 34,261,266 (GRCm39)	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,521,730 (GRCm39)		probably benign	Het
Frmd4b	T	C	6: 97,302,390 (GRCm39)		probably benign	Het
Glyr1	A	G	16: 4,837,240 (GRCm39)	M397T	probably benign	Het
Golm2	A	G	2: 121,742,468 (GRCm39)	T306A	probably benign	Het
Gtf2a1l	G	T	17: 88,976,141 (GRCm39)	M1I	probably null	Het
Hdac4	A	G	1: 91,940,417 (GRCm39)	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720 (GRCm39)	C422S	probably damaging	Het
Kng2	T	A	16: 22,830,829 (GRCm39)	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,755,130 (GRCm39)	A136S	probably damaging	Het
Ltf	T	C	9: 110,855,193 (GRCm39)	I402T	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 131,956,237 (GRCm39)	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,039,334 (GRCm39)	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,717,800 (GRCm39)	R114W	probably damaging	Het
Myh4	A	T	11: 67,149,808 (GRCm39)	K1818*	probably null	Het
Myo1h	C	T	5: 114,497,799 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 27,000,598 (GRCm39)	S1402T	probably benign	Het
Nutm2	A	G	13: 50,623,516 (GRCm39)	N71S	probably benign	Het
Oas1c	C	A	5: 120,940,133 (GRCm39)	M344I	probably benign	Het
Or10g7	T	A	9: 39,905,138 (GRCm39)	F11I	probably benign	Het
Plxnc1	T	C	10: 94,718,453 (GRCm39)	E494G	probably benign	Het
Pole	T	C	5: 110,447,666 (GRCm39)	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,851,769 (GRCm39)	S203P	probably benign	Het
Pth2r	G	T	1: 65,385,998 (GRCm39)	M240I	probably benign	Het
Ptprr	T	A	10: 116,109,672 (GRCm39)	F394I	probably damaging	Het
Rabgef1	T	C	5: 130,239,329 (GRCm39)	S265P	possibly damaging	Het
Rbpjl	A	G	2: 164,255,815 (GRCm39)	D353G	possibly damaging	Het
Rfc3	A	G	5: 151,574,596 (GRCm39)	Y8H	probably benign	Het
Rph3a	A	T	5: 121,118,187 (GRCm39)		probably null	Het
Runx1t1	A	T	4: 13,865,294 (GRCm39)		probably benign	Het
Slc37a1	T	A	17: 31,519,483 (GRCm39)		probably null	Het
Slc38a10	T	C	11: 120,025,714 (GRCm39)		probably benign	Het
Slc38a6	T	C	12: 73,397,342 (GRCm39)	V328A	probably benign	Het
Slf2	T	C	19: 44,930,167 (GRCm39)	S415P	probably benign	Het
Spata17	C	A	1: 186,872,631 (GRCm39)	R60L	possibly damaging	Het
Svil	T	A	18: 5,118,369 (GRCm39)	D2237E	probably benign	Het
Swap70	T	A	7: 109,863,179 (GRCm39)	N169K	probably benign	Het
Tnfrsf11a	A	G	1: 105,755,443 (GRCm39)	D505G	probably benign	Het
Traf1	A	G	2: 34,839,115 (GRCm39)	V70A	probably benign	Het
Traf3	T	A	12: 111,209,899 (GRCm39)	V165E	probably benign	Het
Trpc5	T	C	X: 143,194,795 (GRCm39)	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,460,279 (GRCm39)	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,337,243 (GRCm39)	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,551 (GRCm39)	I221V	probably benign	Het
Vmn2r97	T	A	17: 19,150,596 (GRCm39)	V481E	possibly 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
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
R5651:Phldb1	UTSW	9	44,623,200 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16