Mutagenetix > Incidental Mutation

Incidental Mutation 'R0041:Plekhg1'

15558

Institutional Source

Beutler Lab

Gene Symbol

Plekhg1

Ensembl Gene

ENSMUSG00000040624

Gene Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 1

Synonyms

D10Ertd733e

MMRRC Submission

038335-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R0041 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

3690364-3917303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3914074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1265 (N1265K)

Ref Sequence

ENSEMBL: ENSMUSP00000114056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042438] [ENSMUST00000120274]

AlphaFold

A0A5F8MPP0

Predicted Effect

probably benign
Transcript: ENSMUST00000042438
AA Change: N1265K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: N1265K

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
RhoGEF	116	291	4.17e-52	SMART
PH	323	417	2.54e-6	SMART
low complexity region	419	431	N/A	INTRINSIC
low complexity region	1151	1162	N/A	INTRINSIC
low complexity region	1186	1197	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120274
AA Change: N1265K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: N1265K

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
RhoGEF	116	291	4.17e-52	SMART
PH	323	417	2.54e-6	SMART
low complexity region	419	431	N/A	INTRINSIC
low complexity region	1151	1162	N/A	INTRINSIC
low complexity region	1186	1197	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000136671
AA Change: N1320K

SMART Domains

Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: N1320K

Domain	Start	End	E-Value	Type
low complexity region	67	86	N/A	INTRINSIC
RhoGEF	172	347	4.17e-52	SMART
PH	379	473	2.54e-6	SMART
low complexity region	475	487	N/A	INTRINSIC
low complexity region	1207	1218	N/A	INTRINSIC
low complexity region	1242	1253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141367

Predicted Effect

unknown
Transcript: ENSMUST00000154727
AA Change: N1119K

SMART Domains

Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: N1119K

Domain	Start	End	E-Value	Type
RhoGEF	4	146	2.25e-25	SMART
PH	178	272	2.54e-6	SMART
low complexity region	274	286	N/A	INTRINSIC
low complexity region	1006	1017	N/A	INTRINSIC
low complexity region	1041	1052	N/A	INTRINSIC

Meta Mutation Damage Score

0.0669

Coding Region Coverage

1x: 77.6%
3x: 65.6%
10x: 37.8%
20x: 19.1%

Validation Efficiency

90% (47/52)

Allele List at MGI

All alleles(13) : Targeted(2) Gene trapped(11)

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	G	5: 50,117,901 (GRCm39)	Y1216H	probably benign	Het
Avpi1	C	A	19: 42,112,223 (GRCm39)	E112*	probably null	Het
Braf	C	T	6: 39,617,413 (GRCm39)	A534T	probably damaging	Het
Cntnap5c	C	A	17: 58,183,464 (GRCm39)	Q57K	probably benign	Het
Dlk1	G	C	12: 109,421,439 (GRCm39)	G50A	probably damaging	Het
Dtna	C	T	18: 23,779,932 (GRCm39)		probably benign	Het
Fancm	T	A	12: 65,153,217 (GRCm39)	C1224*	probably null	Het
Gigyf2	A	C	1: 87,306,698 (GRCm39)	R129S	probably damaging	Het
Kcnk2	G	T	1: 189,027,888 (GRCm39)	N122K	probably benign	Het
Lrrc7	G	A	3: 157,869,897 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,817,542 (GRCm39)	S464P	probably damaging	Het
Myh1	A	C	11: 67,099,904 (GRCm39)	N605H	possibly damaging	Het
Olfml1	A	T	7: 107,189,393 (GRCm39)	I153L	possibly damaging	Het
Prss59	A	T	6: 40,903,042 (GRCm39)	L110*	probably null	Het
Rlf	T	A	4: 121,007,126 (GRCm39)	H618L	probably damaging	Het
Rock1	T	C	18: 10,140,240 (GRCm39)	D117G	probably damaging	Het
Serpinb6d	A	G	13: 33,851,615 (GRCm39)	D124G	probably damaging	Het
Slco1a1	A	G	6: 141,864,185 (GRCm39)		probably benign	Het
Swap70	A	G	7: 109,878,562 (GRCm39)	K511E	probably benign	Het
Synb	T	C	14: 69,747,926 (GRCm39)	T193A	probably damaging	Het
Syt11	A	G	3: 88,655,210 (GRCm39)	Y364H	probably damaging	Het
Vcan	T	A	13: 89,810,104 (GRCm39)	H3229L	probably damaging	Het
Wdr64	G	A	1: 175,554,037 (GRCm39)	W189*	probably null	Het
Zfp1001	A	G	2: 150,165,745 (GRCm39)	I42V	possibly damaging	Het

Other mutations in Plekhg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Plekhg1	APN	10	3,913,631 (GRCm39)	missense	probably benign	0.02
IGL01639:Plekhg1	APN	10	3,906,751 (GRCm39)	missense	probably damaging	0.98
IGL01766:Plekhg1	APN	10	3,823,400 (GRCm39)	missense	probably damaging	1.00
IGL01983:Plekhg1	APN	10	3,895,904 (GRCm39)	missense	probably damaging	1.00
IGL02226:Plekhg1	APN	10	3,895,916 (GRCm39)	missense	probably damaging	0.99
IGL02420:Plekhg1	APN	10	3,914,106 (GRCm39)	missense	probably damaging	1.00
IGL02441:Plekhg1	APN	10	3,908,103 (GRCm39)	missense	possibly damaging	0.89
IGL02505:Plekhg1	APN	10	3,907,139 (GRCm39)	missense	probably damaging	0.97
IGL02659:Plekhg1	APN	10	3,907,069 (GRCm39)	nonsense	probably null
IGL02730:Plekhg1	APN	10	3,823,242 (GRCm39)	missense	possibly damaging	0.59
BB006:Plekhg1	UTSW	10	3,869,170 (GRCm39)	missense	probably damaging	0.99
BB016:Plekhg1	UTSW	10	3,869,170 (GRCm39)	missense	probably damaging	0.99
PIT4453001:Plekhg1	UTSW	10	3,913,469 (GRCm39)	missense
R0041:Plekhg1	UTSW	10	3,914,076 (GRCm39)	nonsense	probably null
R0068:Plekhg1	UTSW	10	3,890,504 (GRCm39)	nonsense	probably null
R0068:Plekhg1	UTSW	10	3,890,502 (GRCm39)	missense	probably damaging	0.99
R0333:Plekhg1	UTSW	10	3,914,419 (GRCm39)	missense	probably damaging	1.00
R0427:Plekhg1	UTSW	10	3,914,235 (GRCm39)	missense	probably benign	0.01
R0499:Plekhg1	UTSW	10	3,887,971 (GRCm39)	missense	probably damaging	1.00
R0504:Plekhg1	UTSW	10	3,887,853 (GRCm39)	missense	probably damaging	1.00
R1499:Plekhg1	UTSW	10	3,890,538 (GRCm39)	splice site	probably benign
R1501:Plekhg1	UTSW	10	3,907,361 (GRCm39)	missense	probably benign	0.02
R1565:Plekhg1	UTSW	10	3,890,526 (GRCm39)	missense	probably damaging	1.00
R1801:Plekhg1	UTSW	10	3,913,904 (GRCm39)	missense	probably damaging	1.00
R1823:Plekhg1	UTSW	10	3,853,658 (GRCm39)	critical splice donor site	probably null
R1858:Plekhg1	UTSW	10	3,895,917 (GRCm39)	missense	possibly damaging	0.95
R1984:Plekhg1	UTSW	10	3,908,181 (GRCm39)	missense	probably damaging	1.00
R2420:Plekhg1	UTSW	10	3,908,048 (GRCm39)	missense	probably benign	0.39
R2421:Plekhg1	UTSW	10	3,908,048 (GRCm39)	missense	probably benign	0.39
R2422:Plekhg1	UTSW	10	3,908,048 (GRCm39)	missense	probably benign	0.39
R2437:Plekhg1	UTSW	10	3,913,564 (GRCm39)	missense	probably damaging	1.00
R2872:Plekhg1	UTSW	10	3,913,982 (GRCm39)	missense	probably benign
R2872:Plekhg1	UTSW	10	3,913,982 (GRCm39)	missense	probably benign
R3830:Plekhg1	UTSW	10	3,823,400 (GRCm39)	missense	probably damaging	1.00
R4058:Plekhg1	UTSW	10	3,907,087 (GRCm39)	missense	probably damaging	1.00
R4059:Plekhg1	UTSW	10	3,907,087 (GRCm39)	missense	probably damaging	1.00
R4649:Plekhg1	UTSW	10	3,906,985 (GRCm39)	missense	probably benign	0.00
R4731:Plekhg1	UTSW	10	3,907,506 (GRCm39)	missense	probably benign	0.01
R4732:Plekhg1	UTSW	10	3,907,506 (GRCm39)	missense	probably benign	0.01
R4733:Plekhg1	UTSW	10	3,907,506 (GRCm39)	missense	probably benign	0.01
R4772:Plekhg1	UTSW	10	3,823,130 (GRCm39)	missense	probably damaging	1.00
R4772:Plekhg1	UTSW	10	3,823,127 (GRCm39)	missense	probably benign	0.00
R4803:Plekhg1	UTSW	10	3,907,186 (GRCm39)	missense	probably benign	0.02
R5086:Plekhg1	UTSW	10	3,853,649 (GRCm39)	missense	probably damaging	1.00
R5175:Plekhg1	UTSW	10	3,915,516 (GRCm39)	unclassified	probably benign
R5283:Plekhg1	UTSW	10	3,906,654 (GRCm39)	missense	probably benign	0.00
R5862:Plekhg1	UTSW	10	3,887,914 (GRCm39)	missense	probably damaging	1.00
R6163:Plekhg1	UTSW	10	3,914,369 (GRCm39)	missense	probably damaging	1.00
R6564:Plekhg1	UTSW	10	3,914,153 (GRCm39)	missense	probably damaging	1.00
R6700:Plekhg1	UTSW	10	3,907,373 (GRCm39)	missense	probably benign
R6930:Plekhg1	UTSW	10	3,913,770 (GRCm39)	missense	possibly damaging	0.56
R7033:Plekhg1	UTSW	10	3,890,251 (GRCm39)	missense	probably damaging	0.97
R7200:Plekhg1	UTSW	10	3,906,810 (GRCm39)	missense
R7223:Plekhg1	UTSW	10	3,823,343 (GRCm39)	missense
R7353:Plekhg1	UTSW	10	3,914,327 (GRCm39)	missense
R7488:Plekhg1	UTSW	10	3,907,491 (GRCm39)	missense
R7554:Plekhg1	UTSW	10	3,913,647 (GRCm39)	missense
R7929:Plekhg1	UTSW	10	3,869,170 (GRCm39)	missense	probably damaging	0.99
R8014:Plekhg1	UTSW	10	3,907,758 (GRCm39)	missense
R8104:Plekhg1	UTSW	10	3,902,326 (GRCm39)	missense
R8167:Plekhg1	UTSW	10	3,907,453 (GRCm39)	missense
R8167:Plekhg1	UTSW	10	3,907,452 (GRCm39)	missense
R8215:Plekhg1	UTSW	10	3,907,521 (GRCm39)	missense
R8263:Plekhg1	UTSW	10	3,907,651 (GRCm39)	missense
R8682:Plekhg1	UTSW	10	3,897,523 (GRCm39)	missense
R8746:Plekhg1	UTSW	10	3,907,777 (GRCm39)	missense
R9148:Plekhg1	UTSW	10	3,907,527 (GRCm39)	missense
R9220:Plekhg1	UTSW	10	3,913,805 (GRCm39)	missense
R9245:Plekhg1	UTSW	10	3,907,141 (GRCm39)	missense
R9520:Plekhg1	UTSW	10	3,906,822 (GRCm39)	missense
R9778:Plekhg1	UTSW	10	3,887,966 (GRCm39)	missense

Protein Function and Prediction

The function of Plekhg1 is unknown.

Plekhg1^{tm1a(EUCOMM)Wtsi/ tm1a(EUCOMM)Wtsi}; MGI:4431598

Background: Not Specified

Homozygotes have decreased granulocyte number and decreased susceptibility to bacterial infection (Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project ).

Posted On

2012-12-21

Science Writer

Anne Murray