Mutagenetix > Incidental Mutation

Incidental Mutation 'R3927:Plekhh1'

308341

Institutional Source

Beutler Lab

Gene Symbol

Plekhh1

Ensembl Gene

ENSMUSG00000060716

Gene Name

pleckstrin homology domain containing, family H (with MyTH4 domain) member 1

Synonyms

MMRRC Submission

040822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79029163-79081655 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79053648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 130 (I130N)

Ref Sequence

ENSEMBL: ENSMUSP00000151747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039928] [ENSMUST00000217954] [ENSMUST00000219956]

AlphaFold

Q80TI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039928
AA Change: I130N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: I130N

Domain	Start	End	E-Value	Type
coiled coil region	26	172	N/A	INTRINSIC
low complexity region	363	379	N/A	INTRINSIC
low complexity region	489	500	N/A	INTRINSIC
PH	573	668	1.15e-22	SMART
PH	682	792	3.23e-8	SMART
MyTH4	826	980	3e-48	SMART
B41	987	1224	6.07e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217954

Predicted Effect

probably damaging
Transcript: ENSMUST00000219956
AA Change: I130N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.2303

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,708,218		probably null	Het
Alpk1	T	C	3: 127,677,716	H1039R	probably damaging	Het
Avpr1a	A	G	10: 122,449,711	S303G	probably benign	Het
Axdnd1	A	G	1: 156,419,270	L79S	probably damaging	Het
Baz1a	A	G	12: 54,921,143	I667T	possibly damaging	Het
Bend5	A	G	4: 111,448,605	Y282C	possibly damaging	Het
Clstn3	T	C	6: 124,451,368	D438G	probably damaging	Het
Cog3	A	G	14: 75,743,558		probably benign	Het
Cyp2j6	T	C	4: 96,553,288	N55S	probably benign	Het
Eif4b	G	A	15: 102,084,310	G101R	probably damaging	Het
Epha2	T	C	4: 141,306,550	L40P	probably damaging	Het
Fig4	A	G	10: 41,263,139	V356A	probably benign	Het
Hal	T	C	10: 93,514,026		probably benign	Het
Helz	A	G	11: 107,685,292	Y1770C	unknown	Het
Meis3	A	G	7: 16,177,494	T39A	probably benign	Het
Nod1	G	T	6: 54,944,917	R139S	probably benign	Het
Olfr430	A	T	1: 174,069,312	N5Y	probably damaging	Het
Pacsin3	C	T	2: 91,262,941		probably null	Het
Plxna2	G	A	1: 194,746,157	E512K	probably benign	Het
Ppp1r9a	A	G	6: 5,057,531	I215M	probably damaging	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Sap130	A	T	18: 31,674,382	H414L	possibly damaging	Het
Slc33a1	A	G	3: 63,963,724	I156T	probably benign	Het
Slc37a2	G	A	9: 37,235,507	T338M	probably damaging	Het
Spinkl	T	A	18: 44,169,163		probably null	Het
Tmc5	T	A	7: 118,652,655	L657*	probably null	Het
Tmem217	A	G	17: 29,526,703	S18P	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,582,989		probably benign	Het
Tubb4a	A	G	17: 57,080,967	V353A	probably benign	Het
Ube3b	T	C	5: 114,415,680	F974L	probably benign	Het
Ubqln5	A	G	7: 104,128,471	L382P	probably damaging	Het
Ufsp2	T	A	8: 45,983,686		probably null	Het
Unkl	C	T	17: 25,229,329	T66I	probably damaging	Het
Xrn2	T	A	2: 147,038,189	N477K	probably benign	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zzef1	T	C	11: 72,858,382	S899P	probably damaging	Het
Zzz3	T	C	3: 152,455,862	Y298H	probably damaging	Het

Other mutations in Plekhh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01707:Plekhh1	APN	12	79078964	missense	probably benign	0.35
IGL01764:Plekhh1	APN	12	79054905	missense	probably benign	0.00
IGL01922:Plekhh1	APN	12	79079579	missense	probably benign
IGL02187:Plekhh1	APN	12	79072818	missense	probably damaging	1.00
IGL02406:Plekhh1	APN	12	79069009	splice site	probably benign
IGL02581:Plekhh1	APN	12	79079108	critical splice donor site	probably null
IGL03201:Plekhh1	APN	12	79053656	missense	probably damaging	1.00
R0088:Plekhh1	UTSW	12	79055366	missense	probably benign	0.00
R0626:Plekhh1	UTSW	12	79040585	nonsense	probably null
R0662:Plekhh1	UTSW	12	79078993	missense	probably benign	0.09
R0666:Plekhh1	UTSW	12	79069115	missense	probably damaging	0.99
R0966:Plekhh1	UTSW	12	79065730	missense	probably damaging	1.00
R1027:Plekhh1	UTSW	12	79054482	splice site	probably benign
R1507:Plekhh1	UTSW	12	79079450	missense	probably damaging	1.00
R1562:Plekhh1	UTSW	12	79076708	missense	probably benign	0.00
R1759:Plekhh1	UTSW	12	79072761	missense	probably damaging	1.00
R1839:Plekhh1	UTSW	12	79078957	splice site	probably benign
R2125:Plekhh1	UTSW	12	79079000	missense	probably damaging	1.00
R2345:Plekhh1	UTSW	12	79053647	missense	probably damaging	1.00
R3895:Plekhh1	UTSW	12	79055232	missense	probably benign
R4039:Plekhh1	UTSW	12	79055183	missense	probably benign	0.01
R4720:Plekhh1	UTSW	12	79075420	frame shift	probably null
R4721:Plekhh1	UTSW	12	79075420	frame shift	probably null
R4824:Plekhh1	UTSW	12	79054803	missense	probably benign
R4869:Plekhh1	UTSW	12	79050386	missense	probably benign
R5114:Plekhh1	UTSW	12	79069106	missense	probably benign	0.00
R5809:Plekhh1	UTSW	12	79078687	missense	probably benign	0.26
R6540:Plekhh1	UTSW	12	79064489	missense	probably benign	0.14
R6977:Plekhh1	UTSW	12	79065717	missense	probably damaging	1.00
R7058:Plekhh1	UTSW	12	79075430	missense	probably damaging	1.00
R7103:Plekhh1	UTSW	12	79066655	missense	probably benign	0.01
R7120:Plekhh1	UTSW	12	79070939	missense	probably benign	0.03
R7134:Plekhh1	UTSW	12	79062616	missense	probably benign	0.00
R7209:Plekhh1	UTSW	12	79050376	missense	probably benign	0.04
R7403:Plekhh1	UTSW	12	79040577	nonsense	probably null
R7405:Plekhh1	UTSW	12	79055047	missense	probably benign	0.00
R7449:Plekhh1	UTSW	12	79079552	missense	probably benign	0.00
R7594:Plekhh1	UTSW	12	79076503	missense	possibly damaging	0.89
R7648:Plekhh1	UTSW	12	79055131	missense	probably benign	0.20
R7756:Plekhh1	UTSW	12	79070804	missense	probably benign	0.15
R7758:Plekhh1	UTSW	12	79070804	missense	probably benign	0.15
R8033:Plekhh1	UTSW	12	79070936	missense	probably benign	0.23
R8153:Plekhh1	UTSW	12	79079038	missense	probably benign	0.00
R8243:Plekhh1	UTSW	12	79079069	missense	probably benign
R8728:Plekhh1	UTSW	12	79069088	missense	possibly damaging	0.90
R8992:Plekhh1	UTSW	12	79075533	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGCCCTTCCCACTTGAACTTTG -3'
(R):5'- CTTCTGGAAGGCTGACCCAG -3'

Sequencing Primer
(F):5'- CCCCTAAGTACTGAGACTTGAAGTG -3'
(R):5'- GGCTGACCCAGACAAAAGG -3'

Posted On

2015-04-17