Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02959:Plekha5'

365287

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 #

IGL02959

Quality Score

Status

Chromosome

Chromosomal Location

140369780-140542836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140489904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 9 (E9G)

Ref Sequence

ENSEMBL: ENSMUSP00000144973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087622] [ENSMUST00000203012] [ENSMUST00000203517] [ENSMUST00000203774] [ENSMUST00000204080] [ENSMUST00000204145] [ENSMUST00000204876] [ENSMUST00000205026]

AlphaFold

E9Q6H8

Predicted Effect

probably damaging
Transcript: ENSMUST00000087622
AA Change: E436G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084904
Gene: ENSMUSG00000030231
AA Change: E436G

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 damaging
Transcript: ENSMUST00000203012
AA Change: E54G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145499
Gene: ENSMUSG00000030231
AA Change: E54G

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: ENSMUST00000203517
AA Change: E430G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145478
Gene: ENSMUSG00000030231
AA Change: E430G

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 damaging
Transcript: ENSMUST00000203774
AA Change: E321G

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

SMART Domains

Protein: ENSMUSP00000144832
Gene: ENSMUSG00000030231
AA Change: E321G

Domain	Start	End	E-Value	Type
PH	62	162	8.6e-20	SMART
Blast:PH	477	511	4e-8	BLAST
low complexity region	512	521	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203955
AA Change: E353G

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204080
AA Change: E64G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144872
Gene: ENSMUSG00000030231
AA Change: E64G

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 damaging
Transcript: ENSMUST00000204876
AA Change: E327G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145336
Gene: ENSMUSG00000030231
AA Change: E327G

Domain	Start	End	E-Value	Type
PH	62	162	8.6e-20	SMART
Blast:PH	483	517	3e-8	BLAST
low complexity region	518	527	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000205026
AA Change: E9G

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

SMART Domains

Protein: ENSMUSP00000144973
Gene: ENSMUSG00000030231
AA Change: E9G

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

noncoding transcript
Transcript: ENSMUST00000205025

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,544,023 (GRCm39)	A506D	probably benign	Het
Agap1	G	T	1: 89,770,913 (GRCm39)	V635L	possibly damaging	Het
Akr1c12	T	C	13: 4,329,331 (GRCm39)	K9E	probably benign	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Atm	T	C	9: 53,382,718 (GRCm39)	H1957R	probably damaging	Het
Bcr	T	C	10: 74,996,222 (GRCm39)	F922S	probably benign	Het
Cfap44	T	A	16: 44,291,230 (GRCm39)		probably benign	Het
Chil5	A	G	3: 105,926,906 (GRCm39)	V243A	probably damaging	Het
Csmd1	A	G	8: 15,960,465 (GRCm39)	C3317R	probably damaging	Het
Dsc1	T	C	18: 20,241,942 (GRCm39)	K133R	probably damaging	Het
Ecm1	T	A	3: 95,644,989 (GRCm39)	Q136L	probably damaging	Het
Fscn3	C	A	6: 28,435,997 (GRCm39)	A431E	possibly damaging	Het
Gas7	C	T	11: 67,565,061 (GRCm39)		probably benign	Het
Gbx2	A	G	1: 89,856,517 (GRCm39)	V291A	probably damaging	Het
Hipk3	G	A	2: 104,301,604 (GRCm39)	T196M	probably damaging	Het
Il20ra	T	A	10: 19,634,789 (GRCm39)	N343K	probably benign	Het
Il24	C	T	1: 130,813,470 (GRCm39)	W42*	probably null	Het
Kif13b	A	T	14: 65,005,166 (GRCm39)	I1153F	probably damaging	Het
Krt1c	A	T	15: 101,719,763 (GRCm39)	S636T	unknown	Het
Or11g24	A	T	14: 50,662,389 (GRCm39)	M138L	possibly damaging	Het
Or13a25	C	T	7: 140,247,463 (GRCm39)	P81S	probably damaging	Het
Or14c40	T	C	7: 86,313,737 (GRCm39)	F289S	probably damaging	Het
Or4k52	T	A	2: 111,610,955 (GRCm39)	C97S	probably damaging	Het
Or6d15	A	T	6: 116,559,505 (GRCm39)	M134K	probably damaging	Het
Osmr	T	C	15: 6,845,378 (GRCm39)	D796G	possibly damaging	Het
Peli2	A	T	14: 48,477,754 (GRCm39)	T99S	probably benign	Het
Pi4k2a	A	T	19: 42,101,510 (GRCm39)	K317N	probably benign	Het
Pik3r1	T	G	13: 101,894,037 (GRCm39)	D44A	probably benign	Het
Pkhd1	G	T	1: 20,678,640 (GRCm39)	S96*	probably null	Het
Plekha8	T	C	6: 54,592,254 (GRCm39)	F71S	probably damaging	Het
Polq	G	T	16: 36,906,928 (GRCm39)	L2296F	probably damaging	Het
Rbm5	G	A	9: 107,631,384 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,295,366 (GRCm39)	K217E	probably damaging	Het
Scrib	A	G	15: 75,937,056 (GRCm39)	L350P	probably damaging	Het
Slc4a10	T	A	2: 62,098,487 (GRCm39)	S540R	probably damaging	Het
Smc3	G	T	19: 53,611,988 (GRCm39)	V354L	probably benign	Het
Smurf1	T	A	5: 144,836,199 (GRCm39)	I105F	probably damaging	Het
Stx7	G	T	10: 24,031,247 (GRCm39)	R17L	probably benign	Het
Tbca	C	T	13: 94,979,203 (GRCm39)	R74C	probably benign	Het
Tmem92	T	C	11: 94,669,504 (GRCm39)	Q153R	possibly damaging	Het
Trim41	C	A	11: 48,698,307 (GRCm39)	G553V	probably damaging	Het
Trim75	A	T	8: 65,435,417 (GRCm39)	N344K	possibly damaging	Het
Tsr1	A	G	11: 74,791,075 (GRCm39)	D218G	probably benign	Het
Ubr2	A	C	17: 47,286,877 (GRCm39)	V474G	probably damaging	Het
Unc45a	T	G	7: 79,982,721 (GRCm39)		probably benign	Het
Zfp609	C	T	9: 65,610,675 (GRCm39)	A763T	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
IGL02544:Plekha5	APN	6	140,535,454 (GRCm39)	missense	possibly damaging	0.78
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
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

2015-12-18