Mutagenetix > Incidental Mutations

Incidental Mutation 'R5953:Plekhm3'

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470981

Institutional Source

Beutler Lab

Gene Symbol

Plekhm3

Ensembl Gene

ENSMUSG00000051344

Gene Name

pleckstrin homology domain containing, family M, member 3

Synonyms

9430067K14Rik, A230102O09Rik, Plekhm1l

MMRRC Submission

043245-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R5953 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64785983-64956824 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64937895 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 139 (E139K)

Ref Sequence

ENSEMBL: ENSMUSP00000138002 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097713
AA Change: E139K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095320
Gene: ENSMUSG00000051344
AA Change: E139K

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 damaging
Transcript: ENSMUST00000139649
AA Change: E139K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138002
Gene: ENSMUSG00000051344
AA Change: E139K

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,361,018	S675T	probably damaging	Het
Acvr2a	T	C	2: 48,890,404	L212P	probably damaging	Het
Adamts14	T	C	10: 61,207,446	T751A	probably damaging	Het
Adgrf2	T	C	17: 42,710,338	N532D	probably damaging	Het
Asns	T	C	6: 7,682,285	E220G	probably benign	Het
Cd209d	A	T	8: 3,877,979		probably null	Het
Cenpp	T	C	13: 49,652,685	D2G	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Clec4a3	G	T	6: 122,969,492	V232L	probably benign	Het
Cntln	C	T	4: 85,049,919	H792Y	possibly damaging	Het
Cobl	T	A	11: 12,256,220	T470S	probably benign	Het
Cym	T	A	3: 107,213,467	D274V	probably damaging	Het
Elac2	G	A	11: 64,999,223	C627Y	probably benign	Het
Emc7	T	A	2: 112,459,558	I111N	probably damaging	Het
Eya4	T	A	10: 23,151,973	Y310F	probably damaging	Het
Fam217b	C	T	2: 178,420,360	S39F	probably damaging	Het
Fam234b	G	T	6: 135,225,707	R353L	possibly damaging	Het
Focad	A	G	4: 88,229,335	I404V	probably benign	Het
Il1rl1	T	A	1: 40,442,673	D180E	probably benign	Het
Il2rb	A	T	15: 78,484,982	C256*	probably null	Het
Intu	A	C	3: 40,679,550	L404F	probably damaging	Het
Jmy	G	A	13: 93,499,116	T64M	possibly damaging	Het
Mpl	C	A	4: 118,454,510	S302I	possibly damaging	Het
Mpl	T	A	4: 118,454,511	S302C	probably damaging	Het
Muc2	G	T	7: 141,701,382	D241Y	probably damaging	Het
Nlrp3	C	T	11: 59,546,791	H99Y	probably benign	Het
Olfr1474	A	T	19: 13,471,368	I133F	possibly damaging	Het
Olfr812	C	G	10: 129,842,614	V143L	probably benign	Het
Pglyrp1	A	T	7: 18,890,313	I174F	probably damaging	Het
Pi4ka	A	T	16: 17,281,951	I1936N	probably damaging	Het
Pomk	C	A	8: 25,983,048	L292F	probably damaging	Het
Ptpru	A	G	4: 131,776,837	I1103T	probably damaging	Het
Pygl	T	C	12: 70,219,627	D38G	probably damaging	Het
Rapsn	T	C	2: 91,041,963	V214A	probably benign	Het
S100a9	T	A	3: 90,692,927	K54M	probably damaging	Het
Sdk2	A	G	11: 113,793,744	Y1964H	probably damaging	Het
Slc17a5	T	C	9: 78,557,498	N331S	probably damaging	Het
Snx9	T	A	17: 5,908,402	C252S	probably damaging	Het
Snx9	G	T	17: 5,908,403	C252F	probably damaging	Het
Trem1	A	T	17: 48,237,192	M82L	probably benign	Het

Other mutations in Plekhm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Plekhm3	APN	1	64921832	missense	probably damaging	1.00
IGL01732:Plekhm3	APN	1	64922248	missense	probably benign	0.44
IGL02422:Plekhm3	APN	1	64921866	nonsense	probably null
IGL02724:Plekhm3	APN	1	64795117	missense	probably damaging	0.97
IGL03226:Plekhm3	APN	1	64921800	missense	possibly damaging	0.58
IGL03250:Plekhm3	APN	1	64938047	missense	possibly damaging	0.65
R0124:Plekhm3	UTSW	1	64921751	missense	probably damaging	0.99
R1336:Plekhm3	UTSW	1	64937781	small deletion	probably benign
R1467:Plekhm3	UTSW	1	64892882	missense	probably damaging	1.00
R1467:Plekhm3	UTSW	1	64892882	missense	probably damaging	1.00
R1560:Plekhm3	UTSW	1	64937817	missense	probably benign	0.03
R1901:Plekhm3	UTSW	1	64937781	small deletion	probably benign
R2328:Plekhm3	UTSW	1	64937781	small deletion	probably benign
R2432:Plekhm3	UTSW	1	64937856	missense	probably damaging	1.00
R2568:Plekhm3	UTSW	1	64937781	small deletion	probably benign
R3023:Plekhm3	UTSW	1	64937781	small deletion	probably benign
R4496:Plekhm3	UTSW	1	64861236	missense	probably damaging	1.00
R4529:Plekhm3	UTSW	1	64937825	missense	probably benign	0.14
R4682:Plekhm3	UTSW	1	64937927	missense	possibly damaging	0.94
R4969:Plekhm3	UTSW	1	64937919	missense	probably damaging	1.00
R5347:Plekhm3	UTSW	1	64819990	missense	probably damaging	1.00
R5553:Plekhm3	UTSW	1	64921886	missense	possibly damaging	0.89
R5583:Plekhm3	UTSW	1	64937986	nonsense	probably null
R6319:Plekhm3	UTSW	1	64921934	missense	probably benign	0.20
R6970:Plekhm3	UTSW	1	64892753	missense	possibly damaging	0.80
R7014:Plekhm3	UTSW	1	64883270	missense	probably damaging	1.00
R7408:Plekhm3	UTSW	1	64937984	missense	probably benign	0.02
R7570:Plekhm3	UTSW	1	64937906	missense	probably damaging	1.00
R7663:Plekhm3	UTSW	1	64883208	missense	probably damaging	0.98
R7719:Plekhm3	UTSW	1	64921742	missense	probably benign	0.33
R7894:Plekhm3	UTSW	1	64921715	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTGCTGGGTGAAGACAAC -3'
(R):5'- GGGGCATGAGGTACTTGGTAAC -3'

Sequencing Primer
(F):5'- CTTGCTGGGTGAAGACAACAGAAAAG -3'
(R):5'- CCACTGTAAGAGCAGGCTTTTAG -3'

Posted On

2017-03-31