Mutagenetix > Incidental Mutation

Incidental Mutation 'R1562:Plekhh1'

170700

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

039601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1562 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

79075937-79128429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79123482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1185 (H1185R)

Ref Sequence

ENSEMBL: ENSMUSP00000151747 (fasta)

Gene Model

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

AlphaFold

Q80TI1

Predicted Effect

probably benign
Transcript: ENSMUST00000039928
AA Change: H1185R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: H1185R

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

noncoding transcript
Transcript: ENSMUST00000219946

Predicted Effect

probably benign
Transcript: ENSMUST00000219956
AA Change: H1185R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,331 (GRCm39)	I2201V	probably benign	Het
Adam22	T	C	5: 8,145,007 (GRCm39)	N817S	probably damaging	Het
Alox12	C	A	11: 70,140,991 (GRCm39)	R348L	probably damaging	Het
Asb17	A	T	3: 153,559,143 (GRCm39)	T285S	probably benign	Het
Casp4	T	C	9: 5,324,733 (GRCm39)	S182P	possibly damaging	Het
Cenpe	T	C	3: 134,944,155 (GRCm39)	M985T	possibly damaging	Het
Clcn1	C	T	6: 42,277,169 (GRCm39)	P420L	probably benign	Het
Coro2a	T	C	4: 46,548,917 (GRCm39)	I126V	probably benign	Het
Cubn	T	C	2: 13,432,778 (GRCm39)	Y1181C	probably damaging	Het
Cyp2d22	A	T	15: 82,258,179 (GRCm39)	L147Q	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Fat2	T	C	11: 55,200,800 (GRCm39)	N758S	probably damaging	Het
Fbxo43	T	C	15: 36,163,162 (GRCm39)	D15G	probably damaging	Het
Flt3	T	C	5: 147,281,323 (GRCm39)	E803G	probably damaging	Het
Folr1	T	G	7: 101,507,801 (GRCm39)	D213A	probably damaging	Het
Fus	T	C	7: 127,579,094 (GRCm39)	V359A	probably damaging	Het
Gabrb3	C	T	7: 57,415,262 (GRCm39)	R111*	probably null	Het
Gm17324	T	C	9: 78,355,964 (GRCm39)		probably benign	Het
Hormad2	A	T	11: 4,358,848 (GRCm39)		probably null	Het
Ifi27l2b	T	A	12: 103,422,780 (GRCm39)		probably null	Het
Isg20	G	T	7: 78,569,891 (GRCm39)	C176F	probably benign	Het
Katnip	C	A	7: 125,442,020 (GRCm39)	S643Y	probably damaging	Het
Krt15	C	A	11: 100,024,007 (GRCm39)	V346L	probably benign	Het
Liat1	A	T	11: 75,894,024 (GRCm39)	I134F	probably damaging	Het
Med13l	A	G	5: 118,876,584 (GRCm39)	K920R	probably damaging	Het
Mlh3	A	T	12: 85,313,694 (GRCm39)	F831I	probably benign	Het
Mtmr9	A	G	14: 63,771,786 (GRCm39)	S267P	probably benign	Het
Mybpc1	C	T	10: 88,389,193 (GRCm39)	A406T	probably damaging	Het
Myh1	T	C	11: 67,102,196 (GRCm39)	M829T	probably benign	Het
Myo10	A	G	15: 25,780,497 (GRCm39)	Q209R	possibly damaging	Het
Nceh1	T	A	3: 27,293,701 (GRCm39)	V153D	probably damaging	Het
Oog3	A	T	4: 143,889,169 (GRCm39)	I3N	probably damaging	Het
Or1j19	A	G	2: 36,676,696 (GRCm39)	D53G	probably damaging	Het
Or2ag1b	C	T	7: 106,288,187 (GRCm39)	M250I	probably benign	Het
Or4c103	T	A	2: 88,513,423 (GRCm39)	I218F	probably benign	Het
Or8c20	C	A	9: 38,260,658 (GRCm39)	S87*	probably null	Het
Pcnt	G	A	10: 76,203,164 (GRCm39)	T2646M	probably benign	Het
Phf10	A	T	17: 15,166,512 (GRCm39)	C453S	probably damaging	Het
Plcb4	T	A	2: 135,812,367 (GRCm39)		probably null	Het
Prmt3	G	T	7: 49,476,602 (GRCm39)	V404L	probably benign	Het
Ptprb	T	A	10: 116,175,372 (GRCm39)	D1122E	probably benign	Het
Rars1	A	G	11: 35,711,921 (GRCm39)		probably null	Het
Rasa2	G	T	9: 96,427,803 (GRCm39)	N687K	possibly damaging	Het
Rbm11	A	G	16: 75,393,423 (GRCm39)	T40A	probably damaging	Het
Rem2	T	C	14: 54,713,775 (GRCm39)	V16A	probably benign	Het
Rlf	A	T	4: 121,007,588 (GRCm39)	M574K	possibly damaging	Het
Rpap3	A	T	15: 97,592,098 (GRCm39)	V186D	possibly damaging	Het
Sertad3	G	A	7: 27,176,048 (GRCm39)	E161K	probably damaging	Het
Sh3gl2	T	C	4: 85,304,130 (GRCm39)	S278P	probably benign	Het
Strn3	T	C	12: 51,680,401 (GRCm39)	T400A	probably benign	Het
Sycp2	A	T	2: 178,024,178 (GRCm39)	I402N	probably damaging	Het
Synj1	C	T	16: 90,784,290 (GRCm39)	V283I	probably benign	Het
Tas2r108	A	G	6: 40,471,000 (GRCm39)		probably null	Het
Ttpal	A	G	2: 163,457,323 (GRCm39)	N265S	probably benign	Het
Unc80	G	A	1: 66,677,116 (GRCm39)	G2015D	probably damaging	Het
Upf1	C	T	8: 70,796,017 (GRCm39)	W138*	probably null	Het
Vmn1r25	T	G	6: 57,955,786 (GRCm39)	M168L	probably benign	Het
Vmn2r18	A	T	5: 151,510,301 (GRCm39)	F24Y	probably benign	Het
Vmn2r4	G	T	3: 64,296,865 (GRCm39)	T640N	probably damaging	Het
Wdr75	T	A	1: 45,843,030 (GRCm39)		probably null	Het
Zdbf2	T	G	1: 63,342,747 (GRCm39)	S375R	possibly damaging	Het
Zfp648	A	G	1: 154,080,138 (GRCm39)	Q99R	probably benign	Het
Zfp964	C	T	8: 70,115,654 (GRCm39)	P85S	probably benign	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
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
R8153:Plekhh1	UTSW	12	79,125,812 (GRCm39)	missense	probably benign	0.00
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'- AGGCGCTATCGAAATGGAGCAC -3'
(R):5'- AGCTTGTCTTTGCAGGAGAAGCAC -3'

Sequencing Primer
(F):5'- GAAATGGAGCACCCCCTGAG -3'
(R):5'- CTGGACTGAAGGGCTTCTGAC -3'

Posted On

2014-04-13