Mutagenetix > Incidental Mutation

Incidental Mutation 'R8153:Plekhh1'

633151

Institutional Source

Beutler Lab

Gene Symbol

Plekhh1

Ensembl Gene

ENSMUSG00000060716

Gene Name

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

Synonyms

D630024D12Rik

MMRRC Submission

067579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8153 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79075937-79128429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79125812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1283 (S1283P)

Ref Sequence

ENSEMBL: ENSMUSP00000049460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039928] [ENSMUST00000072154] [ENSMUST00000217998] [ENSMUST00000219956]

AlphaFold

Q80TI1

Predicted Effect

probably benign
Transcript: ENSMUST00000039928
AA Change: S1283P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: S1283P

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: ENSMUST00000072154

SMART Domains

Protein: ENSMUSP00000072018
Gene: ENSMUSG00000021120

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
transmembrane domain	63	83	N/A	INTRINSIC
Pfam:PIG-H	89	158	6.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217998

Predicted Effect

probably benign
Transcript: ENSMUST00000219956
AA Change: S1283P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,157 (GRCm39)	S287T	probably benign	Het
Abca15	T	C	7: 119,999,812 (GRCm39)	S1429P	probably damaging	Het
Arfgef2	GTGTGCAGAAACT	GT	2: 166,676,383 (GRCm39)	92	probably null	Het
C1qb	A	G	4: 136,607,877 (GRCm39)	V162A	possibly damaging	Het
Cachd1	G	T	4: 100,845,835 (GRCm39)		probably null	Het
Cfap61	T	C	2: 146,042,704 (GRCm39)	I1159T	probably benign	Het
Csf1	T	A	3: 107,656,020 (GRCm39)	D337V	probably damaging	Het
Ddhd2	T	A	8: 26,240,816 (GRCm39)	T251S	probably benign	Het
Dnah5	A	G	15: 28,384,576 (GRCm39)	T3107A	probably damaging	Het
Dnph1	T	C	17: 46,809,965 (GRCm39)	V169A	probably benign	Het
Ebf2	T	C	14: 67,627,914 (GRCm39)	V303A	probably damaging	Het
Eif4a3l2	A	T	6: 116,528,968 (GRCm39)	I282F	probably damaging	Het
Enpp3	A	G	10: 24,685,777 (GRCm39)	F206S	probably damaging	Het
Fam151b	G	T	13: 92,614,410 (GRCm39)	T26K	probably damaging	Het
Fga	T	C	3: 82,938,164 (GRCm39)	S180P	probably damaging	Het
Fpr-rs3	A	G	17: 20,844,685 (GRCm39)	L152P	probably damaging	Het
Gen1	C	A	12: 11,310,948 (GRCm39)	G95W	probably damaging	Het
Ggta1	T	A	2: 35,313,333 (GRCm39)	T3S	possibly damaging	Het
Gm4884	T	A	7: 40,692,582 (GRCm39)	C184S	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsx2	T	C	5: 75,237,716 (GRCm39)	S223P	probably damaging	Het
Hnf4g	C	T	3: 3,699,250 (GRCm39)		probably benign	Het
Iqub	A	C	6: 24,450,789 (GRCm39)	Y603*	probably null	Het
Klhl22	A	G	16: 17,610,414 (GRCm39)	N555S	probably damaging	Het
Lama5	T	C	2: 179,829,724 (GRCm39)	D1928G	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Lamc2	CATCAGCTA	CA	1: 152,999,850 (GRCm39)		probably null	Het
Lgr4	T	A	2: 109,830,645 (GRCm39)	F255I	probably damaging	Het
Lnx2	T	C	5: 146,964,906 (GRCm39)	N439S	probably benign	Het
Lztr1	G	T	16: 17,336,439 (GRCm39)		probably null	Het
Mtcl3	G	T	10: 29,024,235 (GRCm39)	E384*	probably null	Het
Nfkb2	G	T	19: 46,296,455 (GRCm39)	R241L	probably damaging	Het
Nrcam	T	C	12: 44,631,755 (GRCm39)	F1103L	probably benign	Het
Or2g1	A	G	17: 38,106,367 (GRCm39)	I11V	probably benign	Het
Or5k17	A	G	16: 58,746,149 (GRCm39)	S262P	possibly damaging	Het
Or8d2	A	G	9: 38,759,631 (GRCm39)	I74V	possibly damaging	Het
Or8g52	A	G	9: 39,630,954 (GRCm39)	M144V	possibly damaging	Het
Otof	C	A	5: 30,546,079 (GRCm39)	A425S	probably damaging	Het
Parg	T	A	14: 31,984,777 (GRCm39)	L774H	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pcnx4	T	A	12: 72,603,017 (GRCm39)	F426L	probably benign	Het
Pde5a	T	G	3: 122,646,225 (GRCm39)	S805R	probably benign	Het
Pde5a	T	A	3: 122,646,227 (GRCm39)	M806K	probably damaging	Het
Ppp1r12a	A	G	10: 107,998,303 (GRCm39)	K15E	probably damaging	Het
Prkdc	A	T	16: 15,482,108 (GRCm39)	M384L	probably damaging	Het
Ptchd4	A	G	17: 42,814,787 (GRCm39)	D896G	probably benign	Het
Rsf1	GGC	GGCTACGGCCGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slmap	T	C	14: 26,254,488 (GRCm39)	S65G	probably benign	Het
Snta1	C	A	2: 154,222,722 (GRCm39)	L298F	probably damaging	Het
Sphkap	T	G	1: 83,255,730 (GRCm39)	N673T	possibly damaging	Het
St8sia5	T	G	18: 77,340,807 (GRCm39)		probably null	Het
Tgm6	T	C	2: 129,986,975 (GRCm39)	V481A	probably benign	Het
Thada	T	C	17: 84,700,855 (GRCm39)	N1217S	possibly damaging	Het
Tia1	C	G	6: 86,397,314 (GRCm39)	H107D	probably damaging	Het
Ttn	A	G	2: 76,746,956 (GRCm39)	Y4698H	probably benign	Het
Ube3c	T	C	5: 29,811,929 (GRCm39)	Y390H	possibly damaging	Het
Ubqln5	A	G	7: 103,778,011 (GRCm39)	I271T	possibly damaging	Het
Vmn2r109	A	G	17: 20,784,969 (GRCm39)	V17A	probably benign	Het
Xkr9	A	G	1: 13,754,363 (GRCm39)	D119G	probably benign	Het
Zfp236	C	T	18: 82,648,152 (GRCm39)	C1003Y	probably damaging	Het

Other mutations in Plekhh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01707:Plekhh1	APN	12	79,125,738 (GRCm39)	missense	probably benign	0.35
IGL01764:Plekhh1	APN	12	79,101,679 (GRCm39)	missense	probably benign	0.00
IGL01922:Plekhh1	APN	12	79,126,353 (GRCm39)	missense	probably benign
IGL02187:Plekhh1	APN	12	79,119,592 (GRCm39)	missense	probably damaging	1.00
IGL02406:Plekhh1	APN	12	79,115,783 (GRCm39)	splice site	probably benign
IGL02581:Plekhh1	APN	12	79,125,882 (GRCm39)	critical splice donor site	probably null
IGL03201:Plekhh1	APN	12	79,100,430 (GRCm39)	missense	probably damaging	1.00
R0088:Plekhh1	UTSW	12	79,102,140 (GRCm39)	missense	probably benign	0.00
R0626:Plekhh1	UTSW	12	79,087,359 (GRCm39)	nonsense	probably null
R0662:Plekhh1	UTSW	12	79,125,767 (GRCm39)	missense	probably benign	0.09
R0666:Plekhh1	UTSW	12	79,115,889 (GRCm39)	missense	probably damaging	0.99
R0966:Plekhh1	UTSW	12	79,112,504 (GRCm39)	missense	probably damaging	1.00
R1027:Plekhh1	UTSW	12	79,101,256 (GRCm39)	splice site	probably benign
R1507:Plekhh1	UTSW	12	79,126,224 (GRCm39)	missense	probably damaging	1.00
R1562:Plekhh1	UTSW	12	79,123,482 (GRCm39)	missense	probably benign	0.00
R1759:Plekhh1	UTSW	12	79,119,535 (GRCm39)	missense	probably damaging	1.00
R1839:Plekhh1	UTSW	12	79,125,731 (GRCm39)	splice site	probably benign
R2125:Plekhh1	UTSW	12	79,125,774 (GRCm39)	missense	probably damaging	1.00
R2345:Plekhh1	UTSW	12	79,100,421 (GRCm39)	missense	probably damaging	1.00
R3895:Plekhh1	UTSW	12	79,102,006 (GRCm39)	missense	probably benign
R3927:Plekhh1	UTSW	12	79,100,422 (GRCm39)	missense	probably damaging	1.00
R4039:Plekhh1	UTSW	12	79,101,957 (GRCm39)	missense	probably benign	0.01
R4720:Plekhh1	UTSW	12	79,122,194 (GRCm39)	frame shift	probably null
R4721:Plekhh1	UTSW	12	79,122,194 (GRCm39)	frame shift	probably null
R4824:Plekhh1	UTSW	12	79,101,577 (GRCm39)	missense	probably benign
R4869:Plekhh1	UTSW	12	79,097,160 (GRCm39)	missense	probably benign
R5114:Plekhh1	UTSW	12	79,115,880 (GRCm39)	missense	probably benign	0.00
R5809:Plekhh1	UTSW	12	79,125,461 (GRCm39)	missense	probably benign	0.26
R6540:Plekhh1	UTSW	12	79,111,263 (GRCm39)	missense	probably benign	0.14
R6977:Plekhh1	UTSW	12	79,112,491 (GRCm39)	missense	probably damaging	1.00
R7058:Plekhh1	UTSW	12	79,122,204 (GRCm39)	missense	probably damaging	1.00
R7103:Plekhh1	UTSW	12	79,113,429 (GRCm39)	missense	probably benign	0.01
R7120:Plekhh1	UTSW	12	79,117,713 (GRCm39)	missense	probably benign	0.03
R7134:Plekhh1	UTSW	12	79,109,390 (GRCm39)	missense	probably benign	0.00
R7209:Plekhh1	UTSW	12	79,097,150 (GRCm39)	missense	probably benign	0.04
R7403:Plekhh1	UTSW	12	79,087,351 (GRCm39)	nonsense	probably null
R7405:Plekhh1	UTSW	12	79,101,821 (GRCm39)	missense	probably benign	0.00
R7449:Plekhh1	UTSW	12	79,126,326 (GRCm39)	missense	probably benign	0.00
R7594:Plekhh1	UTSW	12	79,123,277 (GRCm39)	missense	possibly damaging	0.89
R7648:Plekhh1	UTSW	12	79,101,905 (GRCm39)	missense	probably benign	0.20
R7756:Plekhh1	UTSW	12	79,117,578 (GRCm39)	missense	probably benign	0.15
R7758:Plekhh1	UTSW	12	79,117,578 (GRCm39)	missense	probably benign	0.15
R8033:Plekhh1	UTSW	12	79,117,710 (GRCm39)	missense	probably benign	0.23
R8243:Plekhh1	UTSW	12	79,125,843 (GRCm39)	missense	probably benign
R8728:Plekhh1	UTSW	12	79,115,862 (GRCm39)	missense	possibly damaging	0.90
R8992:Plekhh1	UTSW	12	79,122,307 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGAGCAGTGCTGTCTTATAG -3'
(R):5'- AAGTTCCAGCTCAGTGGAGAG -3'

Sequencing Primer
(F):5'- GTGCTGTCTTATAGTCTGGTCACAAC -3'
(R):5'- AGAGATGGACGTGCTGTTCCAC -3'

Posted On

2020-06-30