Mutagenetix > Incidental Mutations

Incidental Mutation 'R6028:Plekhh3'

480195

Institutional Source

Beutler Lab

Gene Symbol

Plekhh3

Ensembl Gene

ENSMUSG00000035172

Gene Name

pleckstrin homology domain containing, family H (with MyTH4 domain) member 3

Synonyms

MMRRC Submission

044200-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R6028 (G1)

Quality Score

108.008

Status

Validated

Chromosome

Chromosomal Location

101162679-101171351 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101166570 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 287 (M287K)

Ref Sequence

ENSEMBL: ENSMUSP00000127088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043397] [ENSMUST00000043654] [ENSMUST00000123864] [ENSMUST00000129895] [ENSMUST00000164474]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043397
AA Change: M287K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172
AA Change: M287K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	40	N/A	INTRINSIC
PH	96	201	1.9e-5	SMART
low complexity region	241	251	N/A	INTRINSIC
Pfam:MyTH4	285	398	4.2e-21	PFAM
B41	400	664	2.91e-4	SMART
low complexity region	750	766	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043654

SMART Domains

Protein: ENSMUSP00000045901
Gene: ENSMUSG00000045007

Domain	Start	End	E-Value	Type
Tubulin	48	247	1.11e-58	SMART
Tubulin_C	249	393	4.52e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123864

SMART Domains

Protein: ENSMUSP00000120865
Gene: ENSMUSG00000035172

Domain	Start	End	E-Value	Type
PH	95	200	1.9e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000129895
AA Change: M287K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172
AA Change: M287K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	40	N/A	INTRINSIC
PH	96	201	1.9e-5	SMART
low complexity region	241	251	N/A	INTRINSIC
Pfam:MyTH4	281	399	2.7e-16	PFAM
B41	400	664	5.17e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138942

Predicted Effect

probably benign
Transcript: ENSMUST00000139200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156320

Predicted Effect

probably damaging
Transcript: ENSMUST00000164474
AA Change: M287K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172
AA Change: M287K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	40	N/A	INTRINSIC
PH	96	201	1.9e-5	SMART
low complexity region	241	251	N/A	INTRINSIC
Pfam:MyTH4	281	399	3.3e-16	PFAM
B41	400	661	6.14e-4	SMART
low complexity region	747	763	N/A	INTRINSIC

Meta Mutation Damage Score

0.3665

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,479,569		probably null	Het
Acat1	A	T	9: 53,592,066	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,342,324	A924E	probably damaging	Het
Adck1	A	T	12: 88,402,132	M127L	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Alad	G	T	4: 62,510,122	T305K	probably benign	Het
Ankrd33	T	C	15: 101,119,072	F65S	probably damaging	Het
Ap3d1	T	C	10: 80,722,927	N281S	possibly damaging	Het
Arhgap30	A	G	1: 171,408,320	D754G	probably benign	Het
Asah2	T	C	19: 32,016,514	D438G	probably damaging	Het
Cachd1	C	A	4: 100,983,556	N905K	probably damaging	Het
Cdh23	G	T	10: 60,534,535	D160E	probably damaging	Het
Cntln	T	A	4: 84,971,173	S298T	probably benign	Het
Dnah5	T	A	15: 28,387,833	M3146K	probably damaging	Het
Doc2b	C	A	11: 75,772,586	A347S	probably benign	Het
Eps8l2	T	C	7: 141,357,833	F422S	possibly damaging	Het
Esm1	A	G	13: 113,216,667	N161S	possibly damaging	Het
Fbxw10	C	T	11: 62,873,519	Q671*	probably null	Het
Fnbp4	C	A	2: 90,751,134	T177K	probably benign	Het
Gm11639	T	C	11: 104,769,655		probably null	Het
Gm6803	A	T	12: 88,018,361	D137E	possibly damaging	Het
Gpr137c	C	A	14: 45,277,481	Q266K	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hk1	C	A	10: 62,353,058	K25N	probably null	Het
Klhl29	G	T	12: 5,090,995	Y616*	probably null	Het
Lman1l	A	G	9: 57,608,263	I443T	probably damaging	Het
Lmnb1	T	G	18: 56,743,276	Y485*	probably null	Het
Lrrc63	A	G	14: 75,086,174	S537P	possibly damaging	Het
Ltbp2	T	A	12: 84,784,852	N1686I	probably damaging	Het
Map9	T	A	3: 82,380,248		probably null	Het
Marco	T	A	1: 120,490,942	Q194L	probably damaging	Het
Mc3r	A	T	2: 172,249,209	D117V	probably damaging	Het
Meltf	T	A	16: 31,887,476	D259E	possibly damaging	Het
Mical1	A	T	10: 41,486,877	M973L	probably benign	Het
Mmp21	T	C	7: 133,678,714	T176A	probably benign	Het
Mterf1b	T	A	5: 4,197,666		probably null	Het
Muc16	G	A	9: 18,657,176	S1349F	unknown	Het
Nacc2	A	G	2: 26,061,578	V415A	probably damaging	Het
Ncl	A	G	1: 86,356,133	V322A	probably benign	Het
Neb	G	A	2: 52,193,231	T1639I	probably damaging	Het
Nfia	A	G	4: 98,111,251	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,558,337	T460I	probably benign	Het
Olfr1079	T	A	2: 86,538,769	I49F	possibly damaging	Het
Olfr938	T	A	9: 39,078,083	I221F	probably damaging	Het
Patl2	T	A	2: 122,126,137	Q158L	possibly damaging	Het
Pja2	T	C	17: 64,309,090	D270G	probably benign	Het
Pkd1l1	T	C	11: 8,836,267	H1929R	probably benign	Het
Polb	G	T	8: 22,639,995	S187*	probably null	Het
Popdc3	A	G	10: 45,317,919	D272G	probably benign	Het
Prkar2b	A	T	12: 31,993,758	D121E	possibly damaging	Het
Psmd3	T	A	11: 98,685,665	L131Q	probably damaging	Het
Ptcd3	A	T	6: 71,898,408	C197S	probably damaging	Het
Ptprf	A	T	4: 118,213,629	V1391D	probably benign	Het
Purb	A	G	11: 6,475,150	F246S	probably damaging	Het
Rgs8	C	A	1: 153,690,988	T95N	probably damaging	Het
Slc2a13	T	C	15: 91,276,116	N545S	probably damaging	Het
Smpd2	A	G	10: 41,489,348	W51R	probably damaging	Het
Srgap1	T	C	10: 121,828,730	Q490R	probably null	Het
Strbp	G	A	2: 37,625,255	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,559,826	M145K	probably damaging	Het
Taf5l	A	C	8: 124,002,975		probably null	Het
Tas2r131	T	G	6: 132,957,676	I57L	probably benign	Het
Tcf25	A	G	8: 123,381,437	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,017,811	T57A	possibly damaging	Het
Tspan17	A	G	13: 54,793,298	N130S	probably damaging	Het
Utrn	T	C	10: 12,654,716	S2118G	probably benign	Het
Vmn2r3	T	A	3: 64,275,277	T334S	probably benign	Het
Wnk2	G	T	13: 49,076,345	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,307,340	T947A	probably benign	Het
Zfhx3	C	T	8: 108,793,503	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549	S258P	probably damaging	Het
Zfp964	A	G	8: 69,663,913	T388A	unknown	Het

Other mutations in Plekhh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Plekhh3	APN	11	101165693	critical splice acceptor site	probably null
R0139:Plekhh3	UTSW	11	101163675	unclassified	probably benign
R0385:Plekhh3	UTSW	11	101165141	missense	probably damaging	1.00
R0559:Plekhh3	UTSW	11	101164766	missense	possibly damaging	0.86
R1839:Plekhh3	UTSW	11	101163600	unclassified	probably benign
R2845:Plekhh3	UTSW	11	101170230	intron	probably benign
R3110:Plekhh3	UTSW	11	101164147	unclassified	probably benign
R3111:Plekhh3	UTSW	11	101164147	unclassified	probably benign
R3112:Plekhh3	UTSW	11	101164147	unclassified	probably benign
R4882:Plekhh3	UTSW	11	101165183	missense	probably damaging	0.96
R4882:Plekhh3	UTSW	11	101167938	missense	probably null	1.00
R5290:Plekhh3	UTSW	11	101166571	missense	possibly damaging	0.61
R5328:Plekhh3	UTSW	11	101167658	intron	probably benign
R6008:Plekhh3	UTSW	11	101164765	missense	possibly damaging	0.86
R6156:Plekhh3	UTSW	11	101170187	intron	probably benign
R6952:Plekhh3	UTSW	11	101165656	missense	probably damaging	1.00
R6994:Plekhh3	UTSW	11	101165693	critical splice acceptor site	probably null
R7120:Plekhh3	UTSW	11	101168238	missense	probably damaging	0.96
R7324:Plekhh3	UTSW	11	101170774	missense	possibly damaging	0.94
R7487:Plekhh3	UTSW	11	101165579	missense	possibly damaging	0.94
R7525:Plekhh3	UTSW	11	101166619	missense	probably damaging	1.00
R7637:Plekhh3	UTSW	11	101164327	missense	unknown
R8345:Plekhh3	UTSW	11	101164279	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTGAGGCCTCTGCTCTTAC -3'
(R):5'- GACCTTCCTCTGGATCGTGC -3'

Sequencing Primer
(F):5'- TTTCCAAATGCCCTAGGAGG -3'
(R):5'- GGATCGTGCCTTCCTCCCAG -3'

Posted On

2017-06-26