Mutagenetix > Incidental Mutation

Incidental Mutation 'R1507:Plekhh1'

168016

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

039555-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79075937-79128429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79126224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1310 (T1310S)

Ref Sequence

ENSEMBL: ENSMUSP00000151747 (fasta)

Gene Model

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

AlphaFold

Q80TI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039928
AA Change: T1310S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: T1310S

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 damaging
Transcript: ENSMUST00000219956
AA Change: T1310S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.1286

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003F12Rik	T	G	2: 154,391,539 (GRCm39)	V102G	probably benign	Het
Adgrv1	T	C	13: 81,620,699 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,987,441 (GRCm39)	D2908E	probably damaging	Het
Aox1	A	G	1: 58,143,610 (GRCm39)	M1243V	probably benign	Het
Apobec2	T	C	17: 48,730,003 (GRCm39)	D221G	possibly damaging	Het
Bcas1	T	C	2: 170,208,348 (GRCm39)	D472G	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,437 (GRCm39)		noncoding transcript	Het
Cd209d	G	T	8: 3,928,453 (GRCm39)	Q11K	possibly damaging	Het
Cdc14a	G	A	3: 116,087,646 (GRCm39)	T455I	possibly damaging	Het
Cep120	A	G	18: 53,830,729 (GRCm39)	S843P	probably damaging	Het
Cped1	A	T	6: 22,122,260 (GRCm39)	H380L	probably damaging	Het
Derl2	A	T	11: 70,898,171 (GRCm39)	W233R	probably benign	Het
Drd5	A	T	5: 38,478,065 (GRCm39)	I353F	probably damaging	Het
E330034G19Rik	A	T	14: 24,357,055 (GRCm39)	Q197L	possibly damaging	Het
Edil3	T	A	13: 89,279,831 (GRCm39)	S170T	probably damaging	Het
Gldc	T	A	19: 30,096,038 (GRCm39)	T658S	probably damaging	Het
Gpr146	A	G	5: 139,379,124 (GRCm39)	M309V	probably benign	Het
H2bc18	A	G	3: 96,177,189 (GRCm39)	Y41C	probably damaging	Het
Hexim2	T	A	11: 103,029,147 (GRCm39)	C66*	probably null	Het
Htr2a	T	C	14: 74,943,419 (GRCm39)	V333A	probably damaging	Het
Igdcc4	A	G	9: 65,041,026 (GRCm39)	E1065G	probably damaging	Het
Katnip	T	A	7: 125,465,524 (GRCm39)	D1325E	probably damaging	Het
Kcnk9	T	A	15: 72,384,083 (GRCm39)	E365V	possibly damaging	Het
Kif28	T	A	1: 179,563,571 (GRCm39)	N135I	probably damaging	Het
Kmt2a	A	T	9: 44,729,700 (GRCm39)		probably benign	Het
Lamb2	A	T	9: 108,367,581 (GRCm39)	I1788F	probably damaging	Het
Lsm6	G	A	8: 79,539,608 (GRCm39)	R31*	probably null	Het
Mical3	T	A	6: 121,019,199 (GRCm39)	T8S	probably benign	Het
Ncapg2	T	C	12: 116,424,186 (GRCm39)	F1123S	probably benign	Het
Nprl2	A	G	9: 107,420,191 (GRCm39)	D30G	probably benign	Het
Or51l4	C	T	7: 103,404,228 (GRCm39)	R188H	probably benign	Het
Or5ac24	A	T	16: 59,165,856 (GRCm39)	D69E	probably damaging	Het
Or8b51	A	T	9: 38,569,310 (GRCm39)	I126N	probably damaging	Het
Parvg	T	A	15: 84,214,359 (GRCm39)	V181E	probably damaging	Het
Pfas	T	C	11: 68,880,860 (GRCm39)	T1106A	probably benign	Het
Potegl	A	G	2: 23,098,086 (GRCm39)	Y88C	probably damaging	Het
Ptprj	A	G	2: 90,301,631 (GRCm39)	V74A	possibly damaging	Het
Rapgef2	A	T	3: 78,988,600 (GRCm39)		probably benign	Het
Rfx3	G	T	19: 27,745,913 (GRCm39)	T731K	probably benign	Het
Rnf31	A	T	14: 55,836,439 (GRCm39)	K634*	probably null	Het
Scp2	CACTTTAATAATACTTT	CACTTT	4: 107,944,209 (GRCm39)		probably null	Het
Set	A	G	2: 29,959,106 (GRCm39)	H101R	probably damaging	Het
Slc30a6	G	T	17: 74,715,857 (GRCm39)	V106F	probably damaging	Het
Slc47a1	A	T	11: 61,250,344 (GRCm39)		probably null	Het
Spaca3	G	A	11: 80,753,983 (GRCm39)	R40H	probably damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Tenm3	A	G	8: 48,740,857 (GRCm39)	S1209P	probably benign	Het
Tmprss11g	T	C	5: 86,647,470 (GRCm39)	T23A	probably benign	Het
Topors	A	G	4: 40,261,829 (GRCm39)	V485A	probably damaging	Het
Tpgs1	T	A	10: 79,511,620 (GRCm39)	L254Q	probably damaging	Het
Traf3	A	C	12: 111,227,194 (GRCm39)	T336P	probably benign	Het
Ttn	T	A	2: 76,710,934 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 37,981,114 (GRCm39)	R2388W	probably damaging	Het
Unc13a	A	G	8: 72,110,910 (GRCm39)	S434P	probably benign	Het
Usp33	A	G	3: 152,080,400 (GRCm39)	I510M	possibly damaging	Het
Vmn1r65	C	A	7: 6,012,108 (GRCm39)	G42V	probably benign	Het
Xab2	A	G	8: 3,666,031 (GRCm39)	L262S	possibly damaging	Het
Yap1	A	T	9: 7,953,141 (GRCm39)		probably benign	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zfp609	A	G	9: 65,702,059 (GRCm39)	Y198H	possibly damaging	Het
Zfp629	T	A	7: 127,211,033 (GRCm39)	K259*	probably null	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
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
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'- TCCATCTCTCCACTGAGCTGGAAC -3'
(R):5'- TCAATCTGATCCCAGAGGCACGAG -3'

Sequencing Primer
(F):5'- AACTTGGTGGGAACTGCCTG -3'
(R):5'- CCAGAGGCACGAGTGGTG -3'

Posted On

2014-04-13