Mutagenetix > Incidental Mutation

Incidental Mutation 'R5290:Plekhh3'

424670

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

042873-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R5290 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

101053505-101062177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101057397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 287 (M287L)

Ref Sequence

ENSEMBL: ENSMUSP00000127088 (fasta)

Gene Model

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

AlphaFold

Q8VCE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043397
AA Change: M287L

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172
AA Change: M287L

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

possibly damaging
Transcript: ENSMUST00000129895
AA Change: M287L

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172
AA Change: M287L

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

possibly damaging
Transcript: ENSMUST00000164474
AA Change: M287L

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172
AA Change: M287L

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

0.0880

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	A	T	16: 90,351,098 (GRCm39)		noncoding transcript	Het
2700049A03Rik	C	A	12: 71,235,565 (GRCm39)	P1172T	probably benign	Het
Abi3bp	T	A	16: 56,462,838 (GRCm39)		probably null	Het
Apod	T	A	16: 31,129,884 (GRCm39)	H24L	probably damaging	Het
Arfgef3	T	C	10: 18,476,208 (GRCm39)	E1537G	probably damaging	Het
B020004C17Rik	T	C	14: 57,254,036 (GRCm39)	V53A	possibly damaging	Het
Ccdc113	C	A	8: 96,267,424 (GRCm39)		probably null	Het
Cd7	T	G	11: 120,928,936 (GRCm39)	D105A	probably damaging	Het
Celsr3	C	T	9: 108,720,357 (GRCm39)	T2550M	probably benign	Het
Cibar1	T	C	4: 12,171,195 (GRCm39)	Q86R	probably benign	Het
Col6a5	C	T	9: 105,823,282 (GRCm39)	G25D	unknown	Het
Cps1	A	G	1: 67,211,868 (GRCm39)	M679V	probably benign	Het
Dnai4	A	T	4: 102,906,730 (GRCm39)	D694E	probably benign	Het
Dync1h1	A	T	12: 110,581,502 (GRCm39)	T316S	probably benign	Het
Edrf1	T	C	7: 133,252,295 (GRCm39)	Y449H	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Flg2	A	T	3: 93,127,873 (GRCm39)	I2262L	unknown	Het
Flnc	T	C	6: 29,457,553 (GRCm39)	L2417P	probably damaging	Het
Gabrp	A	T	11: 33,517,310 (GRCm39)	Y121N	probably damaging	Het
Gdpd4	A	G	7: 97,615,543 (GRCm39)	T123A	possibly damaging	Het
Gpr162	C	A	6: 124,838,232 (GRCm39)	M139I	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gsn	G	A	2: 35,186,484 (GRCm39)	S410N	probably benign	Het
Gtf2f2	T	C	14: 76,135,089 (GRCm39)	Y212C	probably damaging	Het
Hao2	C	T	3: 98,784,493 (GRCm39)	A291T	probably damaging	Het
Igkv1-133	A	G	6: 67,702,563 (GRCm39)	T94A	possibly damaging	Het
Irf2bp1	G	A	7: 18,738,923 (GRCm39)	A188T	possibly damaging	Het
Itpr1	T	C	6: 108,383,106 (GRCm39)	V1478A	possibly damaging	Het
Kdm5b	T	C	1: 134,549,837 (GRCm39)		probably null	Het
Kif5b	A	T	18: 6,234,882 (GRCm39)	D49E	probably damaging	Het
Lmbr1l	A	G	15: 98,810,123 (GRCm39)	W113R	probably damaging	Het
Lrp2	T	C	2: 69,343,698 (GRCm39)	D887G	probably damaging	Het
Lrrc14	T	A	15: 76,598,143 (GRCm39)	M291K	probably benign	Het
Lypd11	T	C	7: 24,422,836 (GRCm39)	E79G	probably benign	Het
Mgarp	G	A	3: 51,296,387 (GRCm39)	A205V	possibly damaging	Het
Msl2	T	C	9: 100,978,606 (GRCm39)		probably null	Het
Nfix	G	A	8: 85,440,406 (GRCm39)	Q487*	probably null	Het
Notch4	T	C	17: 34,784,263 (GRCm39)	V22A	probably benign	Het
Npc1l1	T	A	11: 6,172,221 (GRCm39)	Q823L	probably benign	Het
Obox3	T	C	7: 15,360,774 (GRCm39)	K122E	probably benign	Het
Or10ab5	C	T	7: 108,245,755 (GRCm39)	M9I	probably benign	Het
Or2a12	A	G	6: 42,904,972 (GRCm39)	K269R	probably damaging	Het
Or8s10	T	C	15: 98,336,213 (GRCm39)	Y288H	probably damaging	Het
Prpf3	A	T	3: 95,760,857 (GRCm39)	I15K	probably benign	Het
Rpl12-ps1	G	T	1: 36,997,423 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Setd2	T	C	9: 110,446,899 (GRCm39)	V2489A	probably damaging	Het
Slfn10-ps	T	A	11: 82,919,851 (GRCm39)		noncoding transcript	Het
Smad2	C	T	18: 76,395,795 (GRCm39)	P78L	probably damaging	Het
Spen	G	A	4: 141,201,127 (GRCm39)	T2500I	probably damaging	Het
Stmnd1	A	G	13: 46,453,074 (GRCm39)	D250G	probably benign	Het
Tjp2	T	G	19: 24,108,568 (GRCm39)	E181D	probably benign	Het
Tmem131l	T	C	3: 83,806,572 (GRCm39)	D1478G	probably benign	Het
Trim72	G	T	7: 127,609,176 (GRCm39)	R326L	probably benign	Het
Ttn	A	T	2: 76,727,584 (GRCm39)		probably benign	Het
Vmn1r177	A	T	7: 23,565,498 (GRCm39)	M126K	probably damaging	Het
Vmn1r57	A	G	7: 5,224,319 (GRCm39)	I281M	probably damaging	Het
Vmn2r108	C	A	17: 20,691,665 (GRCm39)	R286L	probably benign	Het
Wdr25	T	C	12: 108,863,968 (GRCm39)	S38P	probably benign	Het
Zfp937	T	A	2: 150,080,229 (GRCm39)	Y86*	probably null	Het
Zfr2	CTCAGACTGGTGTCAGAC	CTCAGAC	10: 81,082,544 (GRCm39)		probably null	Het
Zswim1	C	T	2: 164,667,845 (GRCm39)	H366Y	probably damaging	Het

Other mutations in Plekhh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Plekhh3	APN	11	101,056,519 (GRCm39)	critical splice acceptor site	probably null
R0139:Plekhh3	UTSW	11	101,054,501 (GRCm39)	unclassified	probably benign
R0385:Plekhh3	UTSW	11	101,055,967 (GRCm39)	missense	probably damaging	1.00
R0559:Plekhh3	UTSW	11	101,055,592 (GRCm39)	missense	possibly damaging	0.86
R1839:Plekhh3	UTSW	11	101,054,426 (GRCm39)	unclassified	probably benign
R2845:Plekhh3	UTSW	11	101,061,056 (GRCm39)	intron	probably benign
R3110:Plekhh3	UTSW	11	101,054,973 (GRCm39)	unclassified	probably benign
R3111:Plekhh3	UTSW	11	101,054,973 (GRCm39)	unclassified	probably benign
R3112:Plekhh3	UTSW	11	101,054,973 (GRCm39)	unclassified	probably benign
R4882:Plekhh3	UTSW	11	101,058,764 (GRCm39)	missense	probably null	1.00
R4882:Plekhh3	UTSW	11	101,056,009 (GRCm39)	missense	probably damaging	0.96
R5328:Plekhh3	UTSW	11	101,058,484 (GRCm39)	intron	probably benign
R6008:Plekhh3	UTSW	11	101,055,591 (GRCm39)	missense	possibly damaging	0.86
R6028:Plekhh3	UTSW	11	101,057,396 (GRCm39)	missense	probably damaging	1.00
R6156:Plekhh3	UTSW	11	101,061,013 (GRCm39)	intron	probably benign
R6952:Plekhh3	UTSW	11	101,056,482 (GRCm39)	missense	probably damaging	1.00
R6994:Plekhh3	UTSW	11	101,056,519 (GRCm39)	critical splice acceptor site	probably null
R7120:Plekhh3	UTSW	11	101,059,064 (GRCm39)	missense	probably damaging	0.96
R7324:Plekhh3	UTSW	11	101,061,600 (GRCm39)	missense	possibly damaging	0.94
R7487:Plekhh3	UTSW	11	101,056,405 (GRCm39)	missense	possibly damaging	0.94
R7525:Plekhh3	UTSW	11	101,057,445 (GRCm39)	missense	probably damaging	1.00
R7637:Plekhh3	UTSW	11	101,055,153 (GRCm39)	missense	unknown
R8345:Plekhh3	UTSW	11	101,055,105 (GRCm39)	missense	unknown
R8827:Plekhh3	UTSW	11	101,058,380 (GRCm39)	missense	probably damaging	1.00
R8919:Plekhh3	UTSW	11	101,057,225 (GRCm39)	missense	probably benign	0.18
R9112:Plekhh3	UTSW	11	101,061,625 (GRCm39)	missense	probably damaging	1.00
R9549:Plekhh3	UTSW	11	101,056,015 (GRCm39)	critical splice acceptor site	probably null
R9599:Plekhh3	UTSW	11	101,054,972 (GRCm39)	missense	unknown

Predicted Primers

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

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

Posted On

2016-08-04