Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02544:Plekha5'

297755

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekha5

Ensembl Gene

ENSMUSG00000030231

Gene Name

pleckstrin homology domain containing, family A member 5

Synonyms

2810431N21Rik, PEPP2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

IGL02544

Quality Score

Status

Chromosome

Chromosomal Location

140369780-140542836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 140535454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 239 (E239A)

Ref Sequence

ENSEMBL: ENSMUSP00000145219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203012] [ENSMUST00000203483] [ENSMUST00000203517] [ENSMUST00000204080] [ENSMUST00000204145] [ENSMUST00000205026] [ENSMUST00000213444]

AlphaFold

E9Q6H8

Predicted Effect

probably benign
Transcript: ENSMUST00000087622
AA Change: E1184A

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: E1184A

Domain	Start	End	E-Value	Type
WW	12	44	1.51e-3	SMART
WW	58	90	2.17e-4	SMART
PH	171	271	1.85e-17	SMART
Blast:PH	592	715	7e-39	BLAST
coiled coil region	747	781	N/A	INTRINSIC
low complexity region	896	916	N/A	INTRINSIC
low complexity region	924	938	N/A	INTRINSIC
low complexity region	1206	1224	N/A	INTRINSIC
low complexity region	1243	1258	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203012
AA Change: E705A

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: E705A

Domain	Start	End	E-Value	Type
Blast:PH	210	250	2e-8	BLAST
coiled coil region	268	302	N/A	INTRINSIC
low complexity region	417	437	N/A	INTRINSIC
low complexity region	445	459	N/A	INTRINSIC
low complexity region	727	745	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203483
AA Change: E239A

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145219
Gene: ENSMUSG00000030231
AA Change: E239A

Domain	Start	End	E-Value	Type
low complexity region	261	279	N/A	INTRINSIC
low complexity region	298	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203517

SMART Domains

Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231

Domain	Start	End	E-Value	Type
WW	12	44	9e-6	SMART
WW	58	90	1.3e-6	SMART
PH	171	271	8.6e-20	SMART
Blast:PH	586	697	3e-15	BLAST
coiled coil region	702	736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203955

Predicted Effect

probably benign
Transcript: ENSMUST00000204080
AA Change: E652A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: E652A

Domain	Start	End	E-Value	Type
Blast:PH	220	260	1e-8	BLAST
coiled coil region	278	312	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204145

SMART Domains

Protein: ENSMUSP00000145457
Gene: ENSMUSG00000030231

Domain	Start	End	E-Value	Type
WW	12	44	9e-6	SMART
WW	58	90	1.3e-6	SMART
Blast:PH	114	151	6e-14	BLAST
PDB:2DKP\|A	163	196	1e-5	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000205026
AA Change: E597A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: E597A

Domain	Start	End	E-Value	Type
Blast:PH	165	205	1e-8	BLAST
coiled coil region	223	257	N/A	INTRINSIC
low complexity region	619	637	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205255

Predicted Effect

probably benign
Transcript: ENSMUST00000213444
AA Change: E511A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	C	5: 77,049,961 (GRCm39)	S12A	probably benign	Het
Abcb5	A	T	12: 118,870,003 (GRCm39)		probably benign	Het
Acap3	G	A	4: 155,976,867 (GRCm39)	E6K	possibly damaging	Het
Ano3	A	T	2: 110,488,594 (GRCm39)	I946K	possibly damaging	Het
Arid1a	A	G	4: 133,409,059 (GRCm39)	V1816A	unknown	Het
Cacna1c	C	T	6: 118,728,440 (GRCm39)	G335R	probably damaging	Het
Ccnh	C	A	13: 85,350,460 (GRCm39)	Y118*	probably null	Het
Cep76	C	T	18: 67,768,020 (GRCm39)		probably benign	Het
Cyp2c65	T	C	19: 39,079,082 (GRCm39)	V387A	probably damaging	Het
Dapk1	T	G	13: 60,899,031 (GRCm39)	S834A	probably benign	Het
Ddx39a	T	C	8: 84,449,402 (GRCm39)	S367P	probably benign	Het
Dicer1	A	G	12: 104,681,091 (GRCm39)	I474T	probably damaging	Het
Dnah10	G	A	5: 124,876,069 (GRCm39)	R2579H	probably benign	Het
Dnajc16	T	C	4: 141,491,958 (GRCm39)	N622D	probably damaging	Het
Eif3c	G	T	7: 126,146,784 (GRCm39)	S799*	probably null	Het
Fbxo9	A	G	9: 77,994,541 (GRCm39)	Y259H	probably damaging	Het
Fpr-rs4	A	T	17: 18,242,473 (GRCm39)	H160L	probably benign	Het
Galc	A	T	12: 98,197,701 (GRCm39)	V336D	probably benign	Het
Matcap1	C	T	8: 106,010,092 (GRCm39)	V286M	probably benign	Het
Mfrp	T	C	9: 44,014,091 (GRCm39)	L153P	probably damaging	Het
Mtx1	C	A	3: 89,117,703 (GRCm39)	W30L	probably damaging	Het
Mysm1	A	T	4: 94,840,543 (GRCm39)	D624E	probably damaging	Het
Naa16	A	G	14: 79,573,260 (GRCm39)	F837L	probably damaging	Het
Or10ag56	C	T	2: 87,139,471 (GRCm39)	R113C	possibly damaging	Het
Or1j17	A	G	2: 36,578,848 (GRCm39)	Y278C	probably damaging	Het
Or2ag1	T	C	7: 106,313,742 (GRCm39)	I49V	probably benign	Het
Or5h25	A	T	16: 58,930,507 (GRCm39)	H155Q	probably damaging	Het
Pde4d	G	T	13: 109,877,057 (GRCm39)	D137Y	probably damaging	Het
Pik3r1	G	T	13: 101,823,784 (GRCm39)	R534S	probably damaging	Het
Pira12	T	A	7: 3,900,185 (GRCm39)	Y139F	probably damaging	Het
Psap	G	T	10: 60,136,405 (GRCm39)		probably benign	Het
Rap2b	T	C	3: 61,272,560 (GRCm39)	F28S	probably damaging	Het
Rfc5	A	T	5: 117,524,931 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,815,024 (GRCm39)	D175N	probably benign	Het
Sbno1	T	G	5: 124,542,046 (GRCm39)	I370L	probably damaging	Het
Slc17a6	T	A	7: 51,315,903 (GRCm39)	C390*	probably null	Het
Srsf7	A	T	17: 80,511,620 (GRCm39)		probably benign	Het
Tbc1d10c	C	T	19: 4,237,959 (GRCm39)	D272N	probably benign	Het
Tll2	A	G	19: 41,124,404 (GRCm39)	F204L	probably damaging	Het
Tmc1	T	A	19: 20,884,327 (GRCm39)	T38S	probably benign	Het
Tmem184b	A	T	15: 79,250,007 (GRCm39)	I256K	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trip11	G	A	12: 101,859,780 (GRCm39)	R365W	probably damaging	Het
Ubr4	C	T	4: 139,142,429 (GRCm39)	P1339S	probably damaging	Het
Vmn2r83	T	A	10: 79,317,293 (GRCm39)		probably benign	Het

Other mutations in Plekha5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Plekha5	APN	6	140,515,822 (GRCm39)	splice site	probably benign
IGL00908:Plekha5	APN	6	140,496,656 (GRCm39)	missense	probably damaging	1.00
IGL01346:Plekha5	APN	6	140,480,292 (GRCm39)	splice site	probably benign
IGL01380:Plekha5	APN	6	140,516,042 (GRCm39)	splice site	probably benign
IGL01406:Plekha5	APN	6	140,518,676 (GRCm39)	missense	probably damaging	0.99
IGL01408:Plekha5	APN	6	140,516,042 (GRCm39)	splice site	probably benign
IGL01688:Plekha5	APN	6	140,515,115 (GRCm39)	missense	probably damaging	0.98
IGL01719:Plekha5	APN	6	140,515,855 (GRCm39)	missense	probably damaging	1.00
IGL01926:Plekha5	APN	6	140,471,642 (GRCm39)	missense	probably benign	0.12
IGL01936:Plekha5	APN	6	140,470,621 (GRCm39)	missense	probably damaging	1.00
IGL02326:Plekha5	APN	6	140,529,576 (GRCm39)	nonsense	probably null
IGL02573:Plekha5	APN	6	140,527,742 (GRCm39)	missense	probably damaging	1.00
IGL02704:Plekha5	APN	6	140,489,592 (GRCm39)	missense	probably damaging	1.00
IGL02959:Plekha5	APN	6	140,489,904 (GRCm39)	missense	probably damaging	1.00
Doubletime	UTSW	6	140,471,655 (GRCm39)	nonsense	probably null
R0067:Plekha5	UTSW	6	140,470,629 (GRCm39)	missense	probably damaging	1.00
R0067:Plekha5	UTSW	6	140,470,629 (GRCm39)	missense	probably damaging	1.00
R0095:Plekha5	UTSW	6	140,474,323 (GRCm39)	missense	probably damaging	1.00
R0095:Plekha5	UTSW	6	140,474,323 (GRCm39)	missense	probably damaging	1.00
R0105:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0107:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0359:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0360:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0362:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0363:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0364:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0365:Plekha5	UTSW	6	140,537,473 (GRCm39)	missense	possibly damaging	0.80
R0833:Plekha5	UTSW	6	140,535,360 (GRCm39)	splice site	probably benign
R0835:Plekha5	UTSW	6	140,514,576 (GRCm39)	nonsense	probably null
R0836:Plekha5	UTSW	6	140,535,360 (GRCm39)	splice site	probably benign
R0944:Plekha5	UTSW	6	140,515,922 (GRCm39)	splice site	probably benign
R2015:Plekha5	UTSW	6	140,480,290 (GRCm39)	critical splice donor site	probably null
R2043:Plekha5	UTSW	6	140,498,530 (GRCm39)	splice site	probably benign
R2086:Plekha5	UTSW	6	140,516,044 (GRCm39)	splice site	probably null
R2102:Plekha5	UTSW	6	140,518,603 (GRCm39)	missense	probably damaging	1.00
R2109:Plekha5	UTSW	6	140,369,942 (GRCm39)	missense	possibly damaging	0.56
R2135:Plekha5	UTSW	6	140,526,225 (GRCm39)	missense	possibly damaging	0.66
R2150:Plekha5	UTSW	6	140,516,129 (GRCm39)	missense	probably damaging	1.00
R2211:Plekha5	UTSW	6	140,471,587 (GRCm39)	missense	possibly damaging	0.56
R2414:Plekha5	UTSW	6	140,496,582 (GRCm39)	missense	probably damaging	1.00
R2915:Plekha5	UTSW	6	140,534,925 (GRCm39)	missense	probably damaging	0.96
R3120:Plekha5	UTSW	6	140,537,367 (GRCm39)	missense	probably benign	0.00
R3924:Plekha5	UTSW	6	140,516,105 (GRCm39)	missense	possibly damaging	0.78
R4049:Plekha5	UTSW	6	140,529,597 (GRCm39)	missense	probably damaging	1.00
R4056:Plekha5	UTSW	6	140,534,958 (GRCm39)	missense	possibly damaging	0.46
R4077:Plekha5	UTSW	6	140,501,647 (GRCm39)	splice site	probably null
R4320:Plekha5	UTSW	6	140,489,543 (GRCm39)	missense	possibly damaging	0.68
R4343:Plekha5	UTSW	6	140,501,780 (GRCm39)	missense	probably damaging	0.99
R4359:Plekha5	UTSW	6	140,537,414 (GRCm39)	missense	probably benign	0.07
R4377:Plekha5	UTSW	6	140,525,191 (GRCm39)	missense	probably damaging	1.00
R4480:Plekha5	UTSW	6	140,472,205 (GRCm39)	missense	probably damaging	1.00
R4533:Plekha5	UTSW	6	140,516,057 (GRCm39)	missense	probably damaging	1.00
R4623:Plekha5	UTSW	6	140,496,912 (GRCm39)	missense	probably damaging	0.98
R4672:Plekha5	UTSW	6	140,470,655 (GRCm39)	missense	probably damaging	0.98
R4871:Plekha5	UTSW	6	140,471,636 (GRCm39)	missense	probably damaging	1.00
R4903:Plekha5	UTSW	6	140,532,093 (GRCm39)	missense	probably damaging	1.00
R5121:Plekha5	UTSW	6	140,525,200 (GRCm39)	missense	probably damaging	1.00
R5156:Plekha5	UTSW	6	140,372,254 (GRCm39)	missense	probably damaging	1.00
R5376:Plekha5	UTSW	6	140,496,870 (GRCm39)	missense	probably damaging	1.00
R5445:Plekha5	UTSW	6	140,498,459 (GRCm39)	nonsense	probably null
R5753:Plekha5	UTSW	6	140,482,730 (GRCm39)	critical splice acceptor site	probably null
R5836:Plekha5	UTSW	6	140,372,250 (GRCm39)	missense	probably damaging	1.00
R5972:Plekha5	UTSW	6	140,518,639 (GRCm39)	missense	possibly damaging	0.78
R6196:Plekha5	UTSW	6	140,525,179 (GRCm39)	missense	probably benign	0.28
R6254:Plekha5	UTSW	6	140,532,162 (GRCm39)	missense	probably damaging	1.00
R6501:Plekha5	UTSW	6	140,471,655 (GRCm39)	nonsense	probably null
R6620:Plekha5	UTSW	6	140,518,601 (GRCm39)	missense	probably damaging	1.00
R6663:Plekha5	UTSW	6	140,523,016 (GRCm39)	missense	probably damaging	1.00
R6823:Plekha5	UTSW	6	140,471,584 (GRCm39)	missense	probably benign	0.16
R6992:Plekha5	UTSW	6	140,489,634 (GRCm39)	missense	probably damaging	1.00
R7196:Plekha5	UTSW	6	140,489,648 (GRCm39)	missense	possibly damaging	0.83
R7487:Plekha5	UTSW	6	140,516,059 (GRCm39)	missense	probably benign	0.25
R7493:Plekha5	UTSW	6	140,526,161 (GRCm39)	missense	probably benign	0.02
R7557:Plekha5	UTSW	6	140,372,271 (GRCm39)	missense	probably damaging	0.96
R7743:Plekha5	UTSW	6	140,501,712 (GRCm39)	missense	probably damaging	1.00
R7792:Plekha5	UTSW	6	140,534,950 (GRCm39)	missense	possibly damaging	0.80
R7808:Plekha5	UTSW	6	140,529,640 (GRCm39)	missense	probably damaging	1.00
R7910:Plekha5	UTSW	6	140,472,184 (GRCm39)	missense	possibly damaging	0.89
R7944:Plekha5	UTSW	6	140,526,201 (GRCm39)	missense	possibly damaging	0.48
R7945:Plekha5	UTSW	6	140,526,201 (GRCm39)	missense	possibly damaging	0.48
R7992:Plekha5	UTSW	6	140,472,267 (GRCm39)	missense	probably damaging	1.00
R8979:Plekha5	UTSW	6	140,496,818 (GRCm39)	missense	probably damaging	1.00
R9024:Plekha5	UTSW	6	140,370,176 (GRCm39)	missense	probably benign	0.10
R9135:Plekha5	UTSW	6	140,480,239 (GRCm39)	missense	probably damaging	1.00
R9215:Plekha5	UTSW	6	140,501,733 (GRCm39)	missense	possibly damaging	0.79
R9241:Plekha5	UTSW	6	140,525,204 (GRCm39)	critical splice donor site	probably null
R9447:Plekha5	UTSW	6	140,525,192 (GRCm39)	missense	probably damaging	1.00
R9625:Plekha5	UTSW	6	140,372,253 (GRCm39)	missense	probably benign	0.24
X0027:Plekha5	UTSW	6	140,370,149 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16