Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02226:Plekhg1'

285353

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 #

IGL02226

Quality Score

Status

Chromosome

Chromosomal Location

3690364-3917303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3895916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 436 (D436A)

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: D436A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: D436A

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

noncoding transcript
Transcript: ENSMUST00000119653

Predicted Effect

probably damaging
Transcript: ENSMUST00000120274
AA Change: D436A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: D436A

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: D491A

SMART Domains

Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: D491A

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

unknown
Transcript: ENSMUST00000154727
AA Change: D290A

SMART Domains

Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: D290A

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	C	12: 53,057,250 (GRCm39)		probably benign	Het
Ankrd11	G	A	8: 123,618,984 (GRCm39)	R1602W	probably damaging	Het
Arhgap23	G	T	11: 97,342,426 (GRCm39)	R236L	probably benign	Het
Aurkaip1	T	C	4: 155,917,028 (GRCm39)	V92A	probably benign	Het
Cdh20	A	T	1: 104,881,816 (GRCm39)		probably benign	Het
Ctnnd2	A	G	15: 30,847,482 (GRCm39)	N691S	probably benign	Het
Ddx24	A	C	12: 103,390,717 (GRCm39)	D2E	possibly damaging	Het
Dennd5b	A	G	6: 148,934,799 (GRCm39)	S691P	probably benign	Het
Dhrs3	C	T	4: 144,650,519 (GRCm39)	R248W	possibly damaging	Het
Dlgap1	T	C	17: 70,823,029 (GRCm39)	S5P	probably damaging	Het
Dnai4	A	T	4: 102,947,595 (GRCm39)	I227K	probably benign	Het
Ep300	A	T	15: 81,497,613 (GRCm39)	M510L	unknown	Het
Fbxo25	T	C	8: 13,973,922 (GRCm39)		probably benign	Het
Gm3252	A	T	14: 4,743,741 (GRCm38)	K193M	possibly damaging	Het
Gtf3c1	T	C	7: 125,267,162 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,873,483 (GRCm39)	D2337G	probably damaging	Het
Idh1	A	T	1: 65,201,081 (GRCm39)	M290K	probably damaging	Het
Layn	T	C	9: 50,985,317 (GRCm39)	S80G	probably damaging	Het
Ltbp4	C	T	7: 27,006,359 (GRCm39)	E1440K	probably damaging	Het
Mri1	T	C	8: 84,982,924 (GRCm39)	T166A	probably damaging	Het
Myod1	C	T	7: 46,027,730 (GRCm39)	T290I	probably benign	Het
Nfat5	T	A	8: 108,078,154 (GRCm39)	L431*	probably null	Het
Nle1	A	T	11: 82,795,133 (GRCm39)	Y299*	probably null	Het
Nlrp4c	T	A	7: 6,069,828 (GRCm39)	F576L	possibly damaging	Het
Nudt21	G	T	8: 94,746,329 (GRCm39)	S123*	probably null	Het
Plxna2	T	C	1: 194,326,732 (GRCm39)	V222A	probably damaging	Het
Ppp4r3c1	A	C	X: 88,975,518 (GRCm39)	D226E	probably damaging	Het
Rbm14	A	G	19: 4,851,745 (GRCm39)		probably benign	Het
Scfd1	T	A	12: 51,436,164 (GRCm39)		probably benign	Het
Slc34a2	A	G	5: 53,225,073 (GRCm39)	T405A	probably benign	Het
Slc39a9	T	A	12: 80,691,695 (GRCm39)	M14K	probably damaging	Het
Slc39a9	G	A	12: 80,691,696 (GRCm39)	M14I	probably damaging	Het
Spast	G	A	17: 74,679,334 (GRCm39)		probably benign	Het
Spen	T	C	4: 141,205,457 (GRCm39)	R1057G	unknown	Het
Sptbn4	T	G	7: 27,065,132 (GRCm39)	T2056P	probably damaging	Het
Ssrp1	T	C	2: 84,870,705 (GRCm39)	L148P	probably damaging	Het
Tdrd6	T	A	17: 43,938,093 (GRCm39)	H985L	probably damaging	Het
Tmem44	A	G	16: 30,358,199 (GRCm39)		probably benign	Het
Vmn2r116	T	A	17: 23,603,808 (GRCm39)	L11Q	probably null	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
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

2015-04-16