Mutagenetix > Incidental Mutations

Incidental Mutation 'R7525:Plekhh3'

582937

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

Accession Numbers

Is this an essential gene?

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

Stock #

R7525 (G1)

Quality Score

219.009

Status

Validated

Chromosome

Chromosomal Location

101162679-101171351 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101166619 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 271 (F271L)

Ref Sequence

ENSEMBL: ENSMUSP00000046044 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000043397
AA Change: F271L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172
AA Change: F271L

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: F271L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172
AA Change: F271L

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

probably benign
Transcript: ENSMUST00000139200

Predicted Effect

probably damaging
Transcript: ENSMUST00000164474
AA Change: F271L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172
AA Change: F271L

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

0.4856

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,183,355	T998A	probably damaging	Het
AI314180	A	G	4: 58,847,038	I508T	possibly damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Akt3	T	A	1: 177,020,107	K465*	probably null	Het
Ankar	T	C	1: 72,688,641	D371G	probably benign	Het
Ankib1	T	G	5: 3,755,734	N178H	possibly damaging	Het
Arhgap10	A	G	8: 77,420,070		probably null	Het
Arhgef4	A	G	1: 34,809,704	D286G	probably damaging	Het
Bsdc1	A	T	4: 129,461,684		probably benign	Het
Camk4	T	C	18: 33,185,032	V414A	probably benign	Het
Cyp2d9	T	A	15: 82,454,092	V139E	possibly damaging	Het
Dhrs13	C	A	11: 78,032,434	N21K	unknown	Het
Dopey1	C	T	9: 86,506,290	A439V	probably damaging	Het
Dpy19l4	G	A	4: 11,317,160	Q13*	probably null	Het
Eif2ak1	T	C	5: 143,886,898	S388P	probably damaging	Het
Emilin2	T	C	17: 71,274,979	S251G	probably benign	Het
Eml4	T	A	17: 83,445,950	L350Q	probably damaging	Het
Fblim1	A	T	4: 141,590,080	L98H	probably damaging	Het
Fcrl6	T	A	1: 172,597,672	N264I	probably benign	Het
Gm13124	A	G	4: 144,565,010	F42S	probably damaging	Het
Gzme	A	C	14: 56,119,333	D57E	probably benign	Het
H2-D1	A	G	17: 35,265,933	T257A	probably damaging	Het
Hectd4	C	A	5: 121,343,665	D3092E	possibly damaging	Het
Hrc	A	G	7: 45,336,379	E318G	probably benign	Het
Hspbp1	A	G	7: 4,663,436	L315P	probably damaging	Het
Insr	A	T	8: 3,192,642	Y591N	probably damaging	Het
Lrch4	T	A	5: 137,639,465	I582N	probably damaging	Het
Lrit2	A	G	14: 37,072,493	K505E	possibly damaging	Het
Lrp1b	A	T	2: 40,657,416	N4251K		Het
Mfsd13a	T	C	19: 46,369,277	F290S	probably damaging	Het
Mgam	T	G	6: 40,766,020	N1791K	probably benign	Het
Mroh7	A	T	4: 106,709,702	I450N	probably benign	Het
Mylk	G	A	16: 34,988,987	M1771I	probably benign	Het
Olfr1335	A	T	4: 118,809,494	F123L	probably damaging	Het
Olfr26	A	T	9: 38,855,238	M59L	possibly damaging	Het
Olfr612	A	T	7: 103,539,131	C34*	probably null	Het
Olfr972	T	A	9: 39,874,139	L288*	probably null	Het
Parp14	A	T	16: 35,857,491	H702Q	probably benign	Het
Pcdhga1	T	C	18: 37,662,228	L95P	probably damaging	Het
Pcsk5	T	C	19: 17,642,590	T373A	probably damaging	Het
Pdzph1	A	G	17: 58,967,341	V836A	possibly damaging	Het
Pgap1	T	A	1: 54,530,922	N322I	probably benign	Het
Pikfyve	C	T	1: 65,244,426	R741*	probably null	Het
Pip4k2c	A	G	10: 127,208,904	S80P	probably damaging	Het
Prkdc	A	T	16: 15,672,327	Y565F	probably damaging	Het
Prom2	T	C	2: 127,532,781	R612G	probably benign	Het
Psap	T	C	10: 60,299,474	V303A	probably benign	Het
Ptch1	C	T	13: 63,511,714	R1375H	probably benign	Het
Slc24a3	A	C	2: 145,613,530	K446N	probably benign	Het
Slc39a12	T	A	2: 14,494,461	M661K	probably benign	Het
Slc6a16	T	C	7: 45,259,113	L39P	probably benign	Het
Syne1	T	G	10: 5,185,559		probably null	Het
Taar8c	T	C	10: 24,101,866	N16S	probably benign	Het
Tmem98	A	G	11: 80,817,518	T105A	probably damaging	Het
Tmub1	T	A	5: 24,446,013	Y216F	probably damaging	Het
Trim16	T	G	11: 62,820,754	C84G	probably damaging	Het
Ttn	T	A	2: 76,731,229	K28978*	probably null	Het
Usp38	A	G	8: 81,014,246	V64A	probably damaging	Het
Vmn2r63	A	T	7: 42,926,982	F469Y	possibly damaging	Het
Vmn2r74	A	G	7: 85,961,302	W61R	probably benign	Het
Whamm	G	T	7: 81,593,850	G607C	probably damaging	Het
Xkr6	G	T	14: 63,819,161	V430F	probably benign	Het
Zfp398	A	G	6: 47,865,818	D268G	probably benign	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
R6028:Plekhh3	UTSW	11	101166570	missense	probably damaging	1.00
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
R7637:Plekhh3	UTSW	11	101164327	missense	unknown
R8345:Plekhh3	UTSW	11	101164279	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCAGGATCTTGAGTGGCAG -3'
(R):5'- TTACTCGGAAAGGCTAAGCAGG -3'

Sequencing Primer
(F):5'- ATCTTGAGTGGCAGGGAGC -3'
(R):5'- GTCTGTGGACCATTGCTTTTC -3'

Posted On

2019-10-17