Mutagenetix > Incidental Mutation

Incidental Mutation 'R5583:Plekhm3'

438541

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

043137-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R5583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64828279-64995983 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 64977145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 108 (W108*)

Ref Sequence

ENSEMBL: ENSMUSP00000138002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097713] [ENSMUST00000123225] [ENSMUST00000139649]

AlphaFold

Q8BM47

Predicted Effect

probably null
Transcript: ENSMUST00000097713
AA Change: W108*

SMART Domains

Protein: ENSMUSP00000095320
Gene: ENSMUSG00000051344
AA Change: W108*

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 benign
Transcript: ENSMUST00000123225

Predicted Effect

probably null
Transcript: ENSMUST00000139649
AA Change: W108*

SMART Domains

Protein: ENSMUSP00000138002
Gene: ENSMUSG00000051344
AA Change: W108*

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: ENSMUST00000181350

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,793,083 (GRCm39)	L8Q	probably damaging	Het
Abca4	T	C	3: 121,942,550 (GRCm39)	V1681A	probably damaging	Het
Abce1	G	T	8: 80,416,922 (GRCm39)	A363E	probably benign	Het
Adgrl2	T	C	3: 148,564,800 (GRCm39)	Y256C	probably damaging	Het
Afm	T	C	5: 90,695,740 (GRCm39)	C416R	probably damaging	Het
Ahnak	T	A	19: 8,984,281 (GRCm39)	V1855D	probably damaging	Het
Alb	A	T	5: 90,616,452 (GRCm39)	H319L	probably benign	Het
Ankrd35	G	T	3: 96,592,219 (GRCm39)	R835L	probably damaging	Het
Atg2b	T	C	12: 105,615,414 (GRCm39)	D1014G	possibly damaging	Het
Cdk6	T	A	5: 3,394,436 (GRCm39)	Y24N	probably damaging	Het
Chd7	T	A	4: 8,752,473 (GRCm39)	N323K	probably damaging	Het
Cops9	A	T	1: 92,567,489 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,879,506 (GRCm39)	T561A	probably benign	Het
Dcdc5	T	C	2: 106,195,778 (GRCm39)		noncoding transcript	Het
Dnah7b	G	T	1: 46,281,359 (GRCm39)	A2807S	probably benign	Het
Fam149b	A	G	14: 20,413,368 (GRCm39)	T196A	possibly damaging	Het
Fam217a	C	A	13: 35,094,280 (GRCm39)	C402F	probably damaging	Het
Fat2	A	T	11: 55,144,715 (GRCm39)	V4053E	probably benign	Het
Fcgbp	T	C	7: 27,791,004 (GRCm39)	V755A	probably damaging	Het
Fxr1	C	A	3: 34,123,125 (GRCm39)	S641R	probably benign	Het
Gata5	A	T	2: 179,976,047 (GRCm39)	M39K	probably benign	Het
Gon4l	T	A	3: 88,807,278 (GRCm39)	D1658E	probably damaging	Het
Gpr180	C	T	14: 118,400,110 (GRCm39)	T426M	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Helq	T	C	5: 100,910,459 (GRCm39)	E1039G	probably damaging	Het
Hibch	T	A	1: 52,940,406 (GRCm39)	Y192N	probably damaging	Het
Hp1bp3	A	G	4: 137,949,426 (GRCm39)	I41M	probably damaging	Het
Itpripl2	G	T	7: 118,089,101 (GRCm39)	P486Q	probably benign	Het
Kcnj6	T	C	16: 94,634,060 (GRCm39)	D17G	probably benign	Het
Kprp	T	A	3: 92,731,643 (GRCm39)	Y469F	unknown	Het
Kremen2	T	C	17: 23,961,229 (GRCm39)	T373A	probably benign	Het
Lgi4	A	G	7: 30,760,562 (GRCm39)	Y39C	possibly damaging	Het
Lgr5	T	C	10: 115,314,409 (GRCm39)	D176G	probably benign	Het
Lrp1	T	C	10: 127,424,332 (GRCm39)	S785G	probably benign	Het
Ltbp1	A	T	17: 75,598,325 (GRCm39)	Q920L	probably benign	Het
Map2	A	G	1: 66,455,196 (GRCm39)	E1362G	probably damaging	Het
Nkx2-6	T	C	14: 69,409,272 (GRCm39)	S8P	probably damaging	Het
Or2h1b	T	C	17: 37,462,485 (GRCm39)	Q126R	probably benign	Het
Pde4dip	C	T	3: 97,654,892 (GRCm39)	R888Q	possibly damaging	Het
Per1	A	G	11: 68,994,271 (GRCm39)	H494R	probably damaging	Het
Pira2	A	G	7: 3,845,545 (GRCm39)	F280L	probably benign	Het
Ptcd3	A	G	6: 71,879,920 (GRCm39)	S113P	probably damaging	Het
Scarf1	T	C	11: 75,404,842 (GRCm39)	L42P	possibly damaging	Het
Scart2	G	A	7: 139,876,739 (GRCm39)	C710Y	probably damaging	Het
Skint1	A	C	4: 111,876,253 (GRCm39)	Q58P	probably damaging	Het
Spata7	A	T	12: 98,635,590 (GRCm39)	N438I	probably damaging	Het
Spdya	C	A	17: 71,876,126 (GRCm39)	D164E	probably damaging	Het
Speer3	G	A	5: 13,844,782 (GRCm39)		probably null	Het
Ssc4d	A	T	5: 135,999,050 (GRCm39)	L51H	probably damaging	Het
Steap1	A	G	5: 5,790,579 (GRCm39)	I123T	possibly damaging	Het
Styx	T	A	14: 45,608,483 (GRCm39)	F147I	possibly damaging	Het
Suv39h2	T	A	2: 3,475,890 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,373,446 (GRCm39)	V84A	probably benign	Het
Tlcd1	T	G	11: 78,069,762 (GRCm39)	V25G	probably benign	Het
Tmem79	T	C	3: 88,239,870 (GRCm39)	Y280C	probably damaging	Het
Trim5	T	A	7: 103,926,042 (GRCm39)	N173I	probably damaging	Het
Ttc17	A	T	2: 94,208,027 (GRCm39)	D194E	probably damaging	Het
Zfp2	T	C	11: 50,790,984 (GRCm39)	E353G	possibly 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
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
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'- GCATGGTGCTAAGGACTACC -3'
(R):5'- GCAGAGGTTTACGGGATCCAAG -3'

Sequencing Primer
(F):5'- TGCTAAGGACTACCCGCCAG -3'
(R):5'- TTTACGGGATCCAAGAAGTCCCTG -3'

Posted On

2016-10-26