Mutagenetix > Incidental Mutation

Incidental Mutation 'R0124:Plekhm3'

21199

Institutional Source

Beutler Lab

Gene Symbol

Plekhm3

Ensembl Gene

ENSMUSG00000051344

Gene Name

pleckstrin homology domain containing, family M, member 3

Synonyms

Plekhm1l, A230102O09Rik, 9430067K14Rik

MMRRC Submission

038409-MU

Accession Numbers

Essential gene?

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

Stock #

R0124 (G1)

Quality Score

188

Status

Validated (trace)

Chromosome

Chromosomal Location

64828279-64995983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64960910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 449 (E449K)

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: E449K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095320
Gene: ENSMUSG00000051344
AA Change: E449K

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: E449K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138002
Gene: ENSMUSG00000051344
AA Change: E449K

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

Meta Mutation Damage Score

0.1067

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.7%
20x: 89.8%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,138,656 (GRCm39)	T194A	probably benign	Het
Afap1	C	T	5: 36,102,553 (GRCm39)	P82S	probably damaging	Het
Ankrd28	A	G	14: 31,449,698 (GRCm39)	Y481H	probably damaging	Het
Arid1b	C	T	17: 5,389,605 (GRCm39)	T1717I	probably damaging	Het
Atad2b	A	G	12: 5,002,676 (GRCm39)	K348R	probably benign	Het
Bcl3	C	T	7: 19,543,576 (GRCm39)	V5M	probably damaging	Het
C2cd3	A	G	7: 100,118,725 (GRCm39)	E2321G	probably benign	Het
Casq1	C	T	1: 172,037,992 (GRCm39)	V380M	probably damaging	Het
Cd209e	T	A	8: 3,901,274 (GRCm39)	T127S	probably benign	Het
Cdh23	G	T	10: 60,143,835 (GRCm39)	Y2921*	probably null	Het
Cdh6	A	G	15: 13,034,410 (GRCm39)	L750P	probably damaging	Het
Cdk12	T	C	11: 98,102,073 (GRCm39)		probably benign	Het
Ces5a	T	C	8: 94,255,183 (GRCm39)	E170G	probably damaging	Het
Clec4f	A	G	6: 83,629,335 (GRCm39)		probably null	Het
Col19a1	T	C	1: 24,565,539 (GRCm39)	N264S	unknown	Het
Col2a1	T	A	15: 97,896,743 (GRCm39)	I43F	unknown	Het
Col4a2	A	G	8: 11,458,871 (GRCm39)		probably benign	Het
Csmd3	T	A	15: 47,454,112 (GRCm39)	D3578V	probably damaging	Het
Cyp2c37	T	C	19: 39,982,546 (GRCm39)	L128P	probably damaging	Het
Dennd2b	A	G	7: 109,141,718 (GRCm39)	S132P	possibly damaging	Het
Dysf	A	G	6: 84,042,084 (GRCm39)		probably benign	Het
Eml1	T	C	12: 108,472,867 (GRCm39)	V225A	probably benign	Het
Eml1	A	G	12: 108,475,437 (GRCm39)	Y256C	probably damaging	Het
Epb41l5	T	A	1: 119,561,370 (GRCm39)	K64*	probably null	Het
Fat2	A	G	11: 55,174,504 (GRCm39)	F2070L	probably damaging	Het
Fbxw18	G	T	9: 109,520,583 (GRCm39)	H259N	probably benign	Het
Gm10764	A	T	10: 87,126,610 (GRCm39)	T6S	unknown	Het
Gm14412	A	G	2: 177,007,705 (GRCm39)		probably benign	Het
Heatr5b	A	T	17: 79,133,646 (GRCm39)		probably benign	Het
Hid1	T	C	11: 115,247,649 (GRCm39)	T250A	probably damaging	Het
Hnf4g	A	G	3: 3,708,142 (GRCm39)		probably benign	Het
Ifnar1	C	T	16: 91,296,425 (GRCm39)	Q309*	probably null	Het
Lrriq1	C	T	10: 103,006,281 (GRCm39)		probably null	Het
Map3k13	A	G	16: 21,722,506 (GRCm39)	T223A	possibly damaging	Het
Matn2	C	T	15: 34,426,297 (GRCm39)		probably benign	Het
Myo6	A	G	9: 80,215,056 (GRCm39)	E1253G	probably damaging	Het
Nomo1	G	T	7: 45,732,652 (GRCm39)		probably benign	Het
Or1ak2	A	T	2: 36,827,268 (GRCm39)	I46F	possibly damaging	Het
Or4c116	A	T	2: 88,942,088 (GRCm39)	I256K	possibly damaging	Het
Or8a1b	A	G	9: 37,622,759 (GRCm39)	V272A	possibly damaging	Het
Papolg	C	T	11: 23,817,535 (GRCm39)	A582T	probably benign	Het
Pole	T	G	5: 110,451,858 (GRCm39)	M900R	probably damaging	Het
Ppp1cb	T	A	5: 32,640,822 (GRCm39)		probably benign	Het
Pramel17	A	G	4: 101,692,570 (GRCm39)	*477Q	probably null	Het
Pros1	A	G	16: 62,734,309 (GRCm39)	T372A	possibly damaging	Het
Scara3	A	T	14: 66,168,670 (GRCm39)	S316T	probably benign	Het
Stau2	C	T	1: 16,533,352 (GRCm39)	A61T	probably damaging	Het
Stx3	T	C	19: 11,769,163 (GRCm39)	E54G	possibly damaging	Het
Sun1	T	C	5: 139,232,434 (GRCm39)		probably benign	Het
Swt1	A	T	1: 151,267,280 (GRCm39)	C634S	probably damaging	Het
Syt6	A	G	3: 103,494,842 (GRCm39)	Y269C	probably damaging	Het
Tfap2a	G	A	13: 40,870,887 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,481,640 (GRCm39)		probably null	Het
Ttc39d	T	C	17: 80,524,375 (GRCm39)	C345R	probably damaging	Het
Vmn1r27	T	C	6: 58,192,233 (GRCm39)	Y257C	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Vps13b	T	C	15: 35,576,674 (GRCm39)		probably null	Het
Wdr17	A	G	8: 55,088,526 (GRCm39)	S1175P	probably damaging	Het
Wsb2	T	C	5: 117,501,823 (GRCm39)	F63L	probably benign	Het
Zfp142	A	G	1: 74,607,782 (GRCm39)	Y1561H	probably damaging	Het

Other mutations in Plekhm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Plekhm3	APN	1	64,960,991 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGAAGCTCCAGCATGAGCATC -3'
(R):5'- AGCTAGACGAAGATCCCCTGTTGAG -3'

Sequencing Primer
(F):5'- TTGAAACTCTGAGCAGTGAGTCC -3'
(R):5'- ATCCCCTGTTGAGCTACAATGTG -3'

Posted On

2013-04-11