Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01603:Plekhm3'

92231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhm3

Ensembl Gene

ENSMUSG00000051344

Gene Name

pleckstrin homology domain containing, family M, member 3

Synonyms

Plekhm1l, A230102O09Rik, 9430067K14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

IGL01603

Quality Score

Status

Chromosome

Chromosomal Location

64828279-64995983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64960991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 422 (D422N)

Ref Sequence

ENSEMBL: ENSMUSP00000138002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097713] [ENSMUST00000139649]

AlphaFold

Q8BM47

Predicted Effect

probably damaging
Transcript: ENSMUST00000097713
AA Change: D422N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095320
Gene: ENSMUSG00000051344
AA Change: D422N

Domain	Start	End	E-Value	Type
low complexity region	184	195	N/A	INTRINSIC
PH	213	311	4.86e-3	SMART
PH	362	458	7.88e-12	SMART
low complexity region	489	503	N/A	INTRINSIC
DUF4206	529	732	2.73e-114	SMART
C1	670	722	3.9e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000139649
AA Change: D422N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138002
Gene: ENSMUSG00000051344
AA Change: D422N

Domain	Start	End	E-Value	Type
low complexity region	184	195	N/A	INTRINSIC
PH	213	311	4.86e-3	SMART
PH	362	458	7.88e-12	SMART
low complexity region	489	503	N/A	INTRINSIC
DUF4206	529	732	2.73e-114	SMART
C1	670	722	3.9e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140857

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	T	A	17: 32,564,327 (GRCm39)	D20V	probably damaging	Het
Akr1c12	A	G	13: 4,322,926 (GRCm39)		probably null	Het
Baiap2l1	C	T	5: 144,217,625 (GRCm39)		probably benign	Het
Baz2a	T	C	10: 127,947,037 (GRCm39)	F184L	probably damaging	Het
Cadps	T	C	14: 12,454,154 (GRCm38)		probably benign	Het
Cbr4	A	T	8: 61,956,245 (GRCm39)	*237Y	probably null	Het
Cln3	T	G	7: 126,174,526 (GRCm39)	N275T	probably benign	Het
Csf1r	A	G	18: 61,262,373 (GRCm39)	E823G	probably damaging	Het
Ctr9	C	A	7: 110,648,538 (GRCm39)	A726D	probably damaging	Het
Def6	C	T	17: 28,438,714 (GRCm39)		probably benign	Het
Dock4	T	A	12: 40,743,030 (GRCm39)	I395N	probably damaging	Het
Eln	T	C	5: 134,747,894 (GRCm39)		probably benign	Het
Fasn	A	T	11: 120,706,891 (GRCm39)	H920Q	probably damaging	Het
Glb1l3	A	G	9: 26,770,832 (GRCm39)	I78T	probably damaging	Het
Gm7275	A	T	16: 47,893,942 (GRCm39)		noncoding transcript	Het
Grm5	A	C	7: 87,252,386 (GRCm39)	Y212S	probably damaging	Het
Gtf2ird2	T	C	5: 134,231,129 (GRCm39)		probably benign	Het
Gucy1b1	A	G	3: 81,942,175 (GRCm39)	V528A	probably damaging	Het
Hspg2	G	A	4: 137,280,114 (GRCm39)	A3168T	probably damaging	Het
Kcnj6	A	G	16: 94,634,058 (GRCm39)	S18P	probably benign	Het
Kcnq5	T	A	1: 21,575,564 (GRCm39)	K294I	possibly damaging	Het
Lama4	G	A	10: 38,941,642 (GRCm39)	G693E	possibly damaging	Het
Ldb1	A	T	19: 46,024,014 (GRCm39)	I124K	probably damaging	Het
Lrrfip1	C	T	1: 91,043,635 (GRCm39)	T680I	probably benign	Het
Lypd10	T	A	7: 24,411,954 (GRCm39)	W45R	probably damaging	Het
Map3k19	T	A	1: 127,758,010 (GRCm39)	D186V	possibly damaging	Het
Mrgprx2	T	C	7: 48,132,374 (GRCm39)	Y148C	probably damaging	Het
Muc4	G	A	16: 32,569,473 (GRCm39)	A178T	probably benign	Het
Mylip	A	C	13: 45,543,479 (GRCm39)	E16A	probably benign	Het
Nek9	A	G	12: 85,352,379 (GRCm39)	F828S	probably damaging	Het
Obscn	A	G	11: 58,928,631 (GRCm39)	F6012L	probably damaging	Het
Or14a257	A	G	7: 86,138,139 (GRCm39)	S207P	possibly damaging	Het
Or2o1	A	C	11: 49,051,438 (GRCm39)	D199A	probably damaging	Het
Or5p54	A	G	7: 107,554,580 (GRCm39)	Y244C	possibly damaging	Het
Pcid2	T	A	8: 13,129,936 (GRCm39)	K273N	possibly damaging	Het
Prr12	T	C	7: 44,692,909 (GRCm39)	H1541R	probably damaging	Het
Psg26	A	C	7: 18,209,028 (GRCm39)	V460G	probably damaging	Het
Rbmxl1	G	A	8: 79,232,459 (GRCm39)	R295*	probably null	Het
Sbf1	A	T	15: 89,187,481 (GRCm39)	V690E	probably damaging	Het
Serpinb2	T	A	1: 107,449,910 (GRCm39)	S108T	probably benign	Het
Sin3b	T	C	8: 73,476,692 (GRCm39)	Y709H	probably damaging	Het
Slc17a5	A	G	9: 78,481,989 (GRCm39)	W160R	probably damaging	Het
Spef2	T	A	15: 9,704,466 (GRCm39)	D449V	probably damaging	Het
Tas2r108	C	A	6: 40,470,720 (GRCm39)	N65K	possibly damaging	Het
Tex15	T	A	8: 34,063,575 (GRCm39)	F1002I	possibly damaging	Het
Trpm5	G	A	7: 142,629,338 (GRCm39)	S942L	probably benign	Het
Tspan5	T	C	3: 138,596,517 (GRCm39)	S52P	probably damaging	Het
Uqcrfs1	T	C	13: 30,725,181 (GRCm39)	T120A	probably benign	Het
Usp6nl	T	C	2: 6,428,246 (GRCm39)	F193L	probably damaging	Het
Vmn2r26	T	A	6: 124,030,833 (GRCm39)	C523S	probably damaging	Het
Wfdc2	C	T	2: 164,405,979 (GRCm39)	P92S	probably benign	Het
Zbtb18	A	T	1: 177,275,549 (GRCm39)	H303L	probably benign	Het
Zfp174	A	T	16: 3,672,153 (GRCm39)	H234L	probably benign	Het
Zmynd12	T	C	4: 119,299,117 (GRCm39)		probably null	Het

Other mutations in Plekhm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Plekhm3	APN	1	64,961,407 (GRCm39)	missense	probably benign	0.44
IGL02422:Plekhm3	APN	1	64,961,025 (GRCm39)	nonsense	probably null
IGL02724:Plekhm3	APN	1	64,834,276 (GRCm39)	missense	probably damaging	0.97
IGL03226:Plekhm3	APN	1	64,960,959 (GRCm39)	missense	possibly damaging	0.58
IGL03250:Plekhm3	APN	1	64,977,206 (GRCm39)	missense	possibly damaging	0.65
R0124:Plekhm3	UTSW	1	64,960,910 (GRCm39)	missense	probably damaging	0.99
R1336:Plekhm3	UTSW	1	64,976,940 (GRCm39)	small deletion	probably benign
R1467:Plekhm3	UTSW	1	64,932,041 (GRCm39)	missense	probably damaging	1.00
R1467:Plekhm3	UTSW	1	64,932,041 (GRCm39)	missense	probably damaging	1.00
R1560:Plekhm3	UTSW	1	64,976,976 (GRCm39)	missense	probably benign	0.03
R1901:Plekhm3	UTSW	1	64,976,940 (GRCm39)	small deletion	probably benign
R2328:Plekhm3	UTSW	1	64,976,940 (GRCm39)	small deletion	probably benign
R2432:Plekhm3	UTSW	1	64,977,015 (GRCm39)	missense	probably damaging	1.00
R2568:Plekhm3	UTSW	1	64,976,940 (GRCm39)	small deletion	probably benign
R3023:Plekhm3	UTSW	1	64,976,940 (GRCm39)	small deletion	probably benign
R4496:Plekhm3	UTSW	1	64,900,395 (GRCm39)	missense	probably damaging	1.00
R4529:Plekhm3	UTSW	1	64,976,984 (GRCm39)	missense	probably benign	0.14
R4682:Plekhm3	UTSW	1	64,977,086 (GRCm39)	missense	possibly damaging	0.94
R4969:Plekhm3	UTSW	1	64,977,078 (GRCm39)	missense	probably damaging	1.00
R5347:Plekhm3	UTSW	1	64,859,149 (GRCm39)	missense	probably damaging	1.00
R5553:Plekhm3	UTSW	1	64,961,045 (GRCm39)	missense	possibly damaging	0.89
R5583:Plekhm3	UTSW	1	64,977,145 (GRCm39)	nonsense	probably null
R5953:Plekhm3	UTSW	1	64,977,054 (GRCm39)	missense	probably damaging	0.98
R6319:Plekhm3	UTSW	1	64,961,093 (GRCm39)	missense	probably benign	0.20
R6970:Plekhm3	UTSW	1	64,931,912 (GRCm39)	missense	possibly damaging	0.80
R7014:Plekhm3	UTSW	1	64,922,429 (GRCm39)	missense	probably damaging	1.00
R7408:Plekhm3	UTSW	1	64,977,143 (GRCm39)	missense	probably benign	0.02
R7570:Plekhm3	UTSW	1	64,977,065 (GRCm39)	missense	probably damaging	1.00
R7663:Plekhm3	UTSW	1	64,922,367 (GRCm39)	missense	probably damaging	0.98
R7719:Plekhm3	UTSW	1	64,960,901 (GRCm39)	missense	probably benign	0.33
R7894:Plekhm3	UTSW	1	64,960,874 (GRCm39)	missense	probably benign
R8808:Plekhm3	UTSW	1	64,922,355 (GRCm39)	missense	possibly damaging	0.96
R9069:Plekhm3	UTSW	1	64,960,802 (GRCm39)	missense	probably benign	0.02
R9296:Plekhm3	UTSW	1	64,961,639 (GRCm39)	missense	probably benign	0.11
R9788:Plekhm3	UTSW	1	64,961,422 (GRCm39)	missense	possibly damaging	0.80

Posted On

2013-12-09