Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01654:Phldb1'

102927

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 #

IGL01654

Quality Score

Status

Chromosome

Chromosomal Location

44597601-44646495 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 44629654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6PDH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034611
AA Change: N133S

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

SMART Domains

Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537
AA Change: N133S

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 damaging
Transcript: ENSMUST00000123406
AA Change: N13S

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

SMART Domains

Protein: ENSMUSP00000114257
Gene: ENSMUSG00000048537
AA Change: N13S

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 null
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

probably damaging
Transcript: ENSMUST00000134465
AA Change: N133S

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

SMART Domains

Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537
AA Change: N133S

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: N133S

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

SMART Domains

Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537
AA Change: N133S

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 damaging
Transcript: ENSMUST00000147495
AA Change: N133S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
AA Change: N133S

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 damaging
Transcript: ENSMUST00000148929
AA Change: N13S

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

SMART Domains

Protein: ENSMUSP00000114533
Gene: ENSMUSG00000048537
AA Change: N13S

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 null
Transcript: ENSMUST00000148344

SMART Domains

Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,838 (GRCm39)	E68V	probably damaging	Het
Abcb1a	T	C	5: 8,765,065 (GRCm39)		probably null	Het
Abcg2	T	A	6: 58,660,306 (GRCm39)		probably null	Het
Adgrf5	T	C	17: 43,762,061 (GRCm39)	I1252T	possibly damaging	Het
Apol10b	A	T	15: 77,472,996 (GRCm39)	D19E	probably benign	Het
Bbs9	T	A	9: 22,402,238 (GRCm39)		probably null	Het
Bod1l	T	C	5: 41,975,519 (GRCm39)	T1932A	probably damaging	Het
C2cd5	A	G	6: 143,027,133 (GRCm39)	V124A	probably benign	Het
Cd151	T	A	7: 141,050,275 (GRCm39)	I170N	probably benign	Het
Ckap5	C	T	2: 91,407,954 (GRCm39)	H827Y	probably benign	Het
Clk3	C	T	9: 57,659,046 (GRCm39)	V572M	probably damaging	Het
Ddrgk1	T	C	2: 130,496,629 (GRCm39)	D245G	probably damaging	Het
Enpp5	A	G	17: 44,392,066 (GRCm39)	D165G	possibly damaging	Het
Epha6	A	C	16: 59,659,666 (GRCm39)	N817K	probably benign	Het
Fbxw14	T	C	9: 109,115,648 (GRCm39)		probably benign	Het
Fes	C	T	7: 80,036,558 (GRCm39)		probably null	Het
Gemin4	A	T	11: 76,104,224 (GRCm39)	L179H	probably damaging	Het
Gm3327	A	G	14: 44,362,317 (GRCm39)	E72G	unknown	Het
Gm4847	C	T	1: 166,465,917 (GRCm39)	R224Q	probably damaging	Het
Lonp2	T	C	8: 87,440,714 (GRCm39)	V357A	probably damaging	Het
Mc2r	A	G	18: 68,541,143 (GRCm39)	I50T	probably benign	Het
Mmp19	C	T	10: 128,634,389 (GRCm39)	A310V	probably damaging	Het
Naip6	C	T	13: 100,435,853 (GRCm39)	R890Q	probably benign	Het
Npdc1	T	C	2: 25,297,649 (GRCm39)	S101P	possibly damaging	Het
Pkd2l1	T	C	19: 44,142,662 (GRCm39)	N460S	probably damaging	Het
Pnpo	A	G	11: 96,834,555 (GRCm39)		probably null	Het
Prkcq	A	T	2: 11,288,654 (GRCm39)	T536S	probably damaging	Het
Rft1	T	A	14: 30,398,837 (GRCm39)	V269E	probably damaging	Het
Skint4	A	T	4: 111,977,254 (GRCm39)	I215F	probably damaging	Het
Slc12a5	G	A	2: 164,815,675 (GRCm39)	D41N	possibly damaging	Het
Srp68	T	C	11: 116,138,638 (GRCm39)		probably benign	Het
Wdr17	T	C	8: 55,115,914 (GRCm39)	T623A	probably damaging	Het
Zfand2a	A	G	5: 139,467,823 (GRCm39)		probably benign	Het
Zfp644	T	C	5: 106,783,796 (GRCm39)	Y917C	probably damaging	Het
Zmym6	C	T	4: 127,017,519 (GRCm39)	S1008L	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
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
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

2014-01-21