Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03335:Phldb1'

417013

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 #

IGL03335

Quality Score

Status

Chromosome

Chromosomal Location

44597601-44646495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44639366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 4 (L4P)

Ref Sequence

ENSEMBL: ENSMUSP00000120208 (fasta)

Gene Model

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

AlphaFold

Q6PDH0

Predicted Effect

probably benign
Transcript: ENSMUST00000034611
AA Change: L4P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: L4P

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

noncoding transcript
Transcript: ENSMUST00000126818

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134465
AA Change: L4P

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: L4P

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: ENSMUST00000138356
AA Change: L4P

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: L4P

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: L4P

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: L4P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,985,258 (GRCm39)	V713A	probably benign	Het
Abtb3	A	T	10: 85,494,222 (GRCm39)		probably benign	Het
Actr8	T	C	14: 29,700,514 (GRCm39)	V31A	probably benign	Het
Alcam	A	C	16: 52,111,366 (GRCm39)	Y244*	probably null	Het
Ankrd24	A	G	10: 81,482,967 (GRCm39)	S972G	probably benign	Het
Aox1	T	A	1: 58,115,319 (GRCm39)	V768E	probably damaging	Het
Carmil2	A	G	8: 106,423,661 (GRCm39)	I1212V	probably benign	Het
Catsper1	C	T	19: 5,386,339 (GRCm39)	R191C	probably damaging	Het
Cenpe	T	A	3: 134,949,386 (GRCm39)	V57D	probably benign	Het
Cpsf3	T	C	12: 21,356,888 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,365,140 (GRCm39)	S1633P	probably damaging	Het
Dsg1c	G	A	18: 20,416,754 (GRCm39)	R885Q	probably benign	Het
Egfl6	C	A	X: 165,321,689 (GRCm39)	G272W	probably damaging	Het
Ermard	T	C	17: 15,279,668 (GRCm39)	L486P	probably damaging	Het
F13b	A	T	1: 139,450,124 (GRCm39)	L595F	probably damaging	Het
Foxm1	A	G	6: 128,349,531 (GRCm39)	N350S	possibly damaging	Het
Fras1	T	C	5: 96,881,803 (GRCm39)		probably benign	Het
Gpr152	C	A	19: 4,193,770 (GRCm39)	T437N	possibly damaging	Het
Icmt	T	A	4: 152,385,154 (GRCm39)	Y205*	probably null	Het
Ints8	A	T	4: 11,216,460 (GRCm39)	F844I	probably damaging	Het
Mep1a	T	A	17: 43,788,064 (GRCm39)	D664V	possibly damaging	Het
Muc4	T	A	16: 32,574,449 (GRCm39)	N966K	probably benign	Het
Myo7b	T	A	18: 32,118,073 (GRCm39)	Q851L	possibly damaging	Het
Pdzd2	T	C	15: 12,373,850 (GRCm39)	H2095R	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pnpla8	T	A	12: 44,329,947 (GRCm39)	N166K	probably benign	Het
Qrfprl	T	C	6: 65,430,101 (GRCm39)		probably null	Het
Rapgef2	A	G	3: 79,006,492 (GRCm39)	M137T	probably damaging	Het
Rbm15b	G	A	9: 106,761,538 (GRCm39)	H877Y	probably damaging	Het
Rbm45	T	C	2: 76,206,777 (GRCm39)	L263P	probably damaging	Het
Rprd1b	T	C	2: 157,916,884 (GRCm39)	V288A	probably damaging	Het
Tmtc3	C	A	10: 100,302,116 (GRCm39)	V278L	probably damaging	Het
Tomm70a	A	G	16: 56,970,289 (GRCm39)	T556A	probably damaging	Het
Trpc7	T	C	13: 57,035,504 (GRCm39)	E143G	probably damaging	Het
Trpm3	G	T	19: 22,903,435 (GRCm39)		probably null	Het
Ugt2b34	T	C	5: 87,054,499 (GRCm39)	E94G	probably benign	Het
Vmn1r174	T	C	7: 23,453,937 (GRCm39)	V201A	probably benign	Het
Zfp352	T	C	4: 90,112,583 (GRCm39)	F241S	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
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

2016-08-02