Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01639:Plekhg1'

92921

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhg1

Ensembl Gene

ENSMUSG00000040624

Gene Name

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

Synonyms

D10Ertd733e

Accession Numbers

Essential gene?

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

Stock #

IGL01639

Quality Score

Status

Chromosome

Chromosomal Location

3690364-3917303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3906751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 556 (E556G)

Ref Sequence

ENSEMBL: ENSMUSP00000114056 (fasta)

Gene Model

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

AlphaFold

A0A5F8MPP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000042438
AA Change: E556G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: E556G

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 damaging
Transcript: ENSMUST00000120274
AA Change: E556G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: E556G

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: E611G

SMART Domains

Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: E611G

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: E410G

SMART Domains

Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: E410G

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

Coding Region Coverage

Validation Efficiency

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
Calm4	T	A	13: 3,888,302 (GRCm39)	V136E	probably damaging	Het
Cnot8	A	T	11: 58,002,188 (GRCm39)	I74F	probably damaging	Het
Coq7	A	T	7: 118,124,527 (GRCm39)	V213D	probably damaging	Het
Itgae	A	G	11: 73,010,204 (GRCm39)	T565A	probably benign	Het
Lgi3	A	G	14: 70,770,825 (GRCm39)	I155V	probably benign	Het
Mbd5	A	G	2: 49,162,320 (GRCm39)	N42S	probably damaging	Het
Nherf4	T	A	9: 44,159,976 (GRCm39)	E381D	probably benign	Het
Or13a22	A	G	7: 140,073,099 (GRCm39)	I183V	probably benign	Het
Or2l13	T	C	16: 19,305,914 (GRCm39)	S109P	probably damaging	Het
Pals2	T	C	6: 50,155,460 (GRCm39)	I261T	probably damaging	Het
Pcnx1	T	C	12: 81,997,094 (GRCm39)		probably null	Het
Rab1a	T	C	11: 20,173,185 (GRCm39)		probably benign	Het
Rfx6	A	T	10: 51,592,002 (GRCm39)	R133*	probably null	Het
Spata31d1c	T	C	13: 65,183,903 (GRCm39)	S482P	probably damaging	Het
Spire1	C	A	18: 67,678,738 (GRCm39)	A68S	possibly damaging	Het
Tmc1	G	A	19: 20,793,556 (GRCm39)	T535M	probably damaging	Het
Trip10	T	A	17: 57,561,165 (GRCm39)		probably benign	Het
Trp53bp1	A	C	2: 121,033,173 (GRCm39)	V1711G	possibly damaging	Het
Ubr4	G	T	4: 139,144,655 (GRCm39)	R1488L	probably damaging	Het
Vmn2r84	A	T	10: 130,225,141 (GRCm39)	Y456*	probably null	Het
Zc3h7a	T	C	16: 10,959,572 (GRCm39)	S794G	possibly damaging	Het
Zeb2	C	T	2: 44,887,269 (GRCm39)	S581N	probably benign	Het
Zfp292	G	A	4: 34,809,048 (GRCm39)	P1332L	probably benign	Het
Zfp641	A	G	15: 98,189,066 (GRCm39)	I131T	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
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
R0041:Plekhg1	UTSW	10	3,914,074 (GRCm39)	missense	probably benign	0.02
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

Posted On

2013-12-09