Mutagenetix > Incidental Mutation

Incidental Mutation 'R3112:Plekhh3'

477873

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

040585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R3112 (G1)

Quality Score

137

Status

Not validated

Chromosome

Chromosomal Location

101053505-101062177 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 101054973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120865 (fasta)

Gene Model

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

AlphaFold

Q8VCE9

Predicted Effect

unknown
Transcript: ENSMUST00000043397
AA Change: T627A

SMART Domains

Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172
AA Change: T627A

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

unknown
Transcript: ENSMUST00000129895
AA Change: T627A

SMART Domains

Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172
AA Change: T627A

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

unknown
Transcript: ENSMUST00000139200
AA Change: T241A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156320

Predicted Effect

unknown
Transcript: ENSMUST00000164474
AA Change: T624A

SMART Domains

Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172
AA Change: T624A

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Acads	T	C	5: 115,255,757 (GRCm39)	H26R	probably benign	Het
Acer1	G	A	17: 57,265,406 (GRCm39)	T141I	probably damaging	Het
Adam15	C	G	3: 89,254,764 (GRCm39)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,368,331 (GRCm39)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,491,720 (GRCm39)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,694,119 (GRCm39)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,645,721 (GRCm39)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,002,831 (GRCm39)	W62*	probably null	Het
Ccdc141	C	T	2: 76,869,830 (GRCm39)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Cdc7	T	G	5: 107,122,564 (GRCm39)		probably null	Het
Cpb1	C	T	3: 20,319,521 (GRCm39)	V188M	probably damaging	Het
Dock5	A	G	14: 68,095,371 (GRCm39)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,035,953 (GRCm39)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,938,123 (GRCm39)	D90E	probably damaging	Het
Fam135b	T	C	15: 71,335,879 (GRCm39)	I438M	probably benign	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,260,470 (GRCm39)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,591 (GRCm39)		probably null	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
H1f4	T	C	13: 23,805,829 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,440,038 (GRCm39)	Y32C	probably damaging	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,523,983 (GRCm39)	I367T	probably benign	Het
Itfg2	T	C	6: 128,388,632 (GRCm39)	E285G	probably damaging	Het
Itgav	T	A	2: 83,622,915 (GRCm39)	C662*	probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Lipe	T	C	7: 25,097,848 (GRCm39)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,698,898 (GRCm39)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,582,330 (GRCm39)	D607G	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Mlc1	A	T	15: 88,850,199 (GRCm39)	D192E	probably benign	Het
Muc2	T	C	7: 141,299,225 (GRCm39)		probably benign	Het
Mybl1	T	C	1: 9,752,095 (GRCm39)	D260G	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,257,297 (GRCm39)	V305A	probably benign	Het
Nodal	G	A	10: 61,260,276 (GRCm39)	R309Q	possibly damaging	Het
Olr1	T	C	6: 129,476,881 (GRCm39)	N128S	possibly damaging	Het
Or10ak14	A	T	4: 118,611,421 (GRCm39)	F105I	probably damaging	Het
Or12j5	A	G	7: 140,083,832 (GRCm39)	I180T	probably damaging	Het
Or14a256	T	C	7: 86,264,884 (GRCm39)	Y323C	probably benign	Het
Orc1	T	A	4: 108,461,757 (GRCm39)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Pfkfb4	C	T	9: 108,854,110 (GRCm39)		probably benign	Het
Phactr3	T	A	2: 177,920,810 (GRCm39)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plch1	T	A	3: 63,616,952 (GRCm39)	D766V	probably damaging	Het
Potefam1	T	G	2: 111,058,399 (GRCm39)	L131F	probably damaging	Het
Ppp1r12b	T	A	1: 134,800,570 (GRCm39)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,116,079 (GRCm39)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,757,112 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,344,369 (GRCm39)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,358,114 (GRCm39)	L15P	probably damaging	Het
Scrib	A	T	15: 75,941,223 (GRCm39)	I5N	probably damaging	Het
Speg	C	T	1: 75,399,326 (GRCm39)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,212,923 (GRCm39)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Sympk	T	C	7: 18,768,409 (GRCm39)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,844,987 (GRCm39)	I6K	unknown	Het
Tas2r120	A	T	6: 132,634,731 (GRCm39)	H271L	probably damaging	Het
Tlcd3a	A	G	11: 76,093,057 (GRCm39)	D33G	probably benign	Het
Tnn	T	A	1: 159,943,856 (GRCm39)	T986S	possibly damaging	Het
Trim5	T	C	7: 103,928,845 (GRCm39)	H32R	probably damaging	Het
Ttc13	A	G	8: 125,410,573 (GRCm39)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,778,781 (GRCm39)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,268,736 (GRCm39)		probably null	Het
Wee1	T	A	7: 109,730,043 (GRCm39)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,495,771 (GRCm39)	S92P	probably damaging	Het
Zfp1004	C	G	2: 150,034,141 (GRCm39)	P185R	probably damaging	Het
Zfp786	A	G	6: 47,797,160 (GRCm39)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,723,989 (GRCm39)	I283L	possibly 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
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
R5290:Plekhh3	UTSW	11	101,057,397 (GRCm39)	missense	possibly damaging	0.61
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'- TGTAGCCCTGGGATAAAGGTGG -3'
(R):5'- AGTTTGCACCGGGACTTTTC -3'

Sequencing Primer
(F):5'- TAAAGGTGGGGGCTTGGACC -3'
(R):5'- TCCTGGACCGCCTGCTG -3'

Posted On

2017-05-15