Mutagenetix > Incidental Mutation

Incidental Mutation 'R4649:Plekhg1'

350608

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

041910-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R4649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3690364-3917303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3906985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 634 (Q634R)

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: Q634R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: Q634R

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: Q634R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: Q634R

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: Q689R

SMART Domains

Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: Q689R

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: Q488R

SMART Domains

Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: Q488R

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

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abca4	G	T	3: 121,963,542 (GRCm39)	V841F	probably damaging	Het
Adcy10	G	A	1: 165,331,618 (GRCm39)	E84K	probably damaging	Het
Adgrg6	C	A	10: 14,344,571 (GRCm39)	M127I	probably damaging	Het
Agpat5	A	G	8: 18,929,668 (GRCm39)	I266V	possibly damaging	Het
Agtpbp1	A	T	13: 59,676,213 (GRCm39)	Y186N	possibly damaging	Het
Alx1	A	T	10: 102,845,193 (GRCm39)	N279K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Arsi	A	G	18: 61,050,170 (GRCm39)	Y351C	probably damaging	Het
B4galnt3	T	A	6: 120,201,581 (GRCm39)	R155W	probably damaging	Het
BC028528	T	C	3: 95,795,577 (GRCm39)	E75G	probably damaging	Het
Bmp2k	C	T	5: 97,200,970 (GRCm39)	P297S	possibly damaging	Het
Btnl4	A	G	17: 34,691,602 (GRCm39)	S296P	probably benign	Het
Bzw2	A	T	12: 36,173,980 (GRCm39)	V98E	probably null	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Catsperb	G	A	12: 101,507,771 (GRCm39)	A513T	probably benign	Het
Cd19	A	G	7: 126,013,664 (GRCm39)	S42P	probably benign	Het
Chml	A	G	1: 175,514,962 (GRCm39)	S138P	probably benign	Het
Clic6	T	G	16: 92,327,827 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,547,076 (GRCm39)	V2252E	probably damaging	Het
Cplx2	G	A	13: 54,527,361 (GRCm39)	E82K	probably benign	Het
Csmd2	G	A	4: 128,439,866 (GRCm39)	V3107M	probably benign	Het
Cspg4	T	A	9: 56,794,149 (GRCm39)	V628D	possibly damaging	Het
Dcaf13	G	A	15: 39,001,637 (GRCm39)	R315Q	possibly damaging	Het
Deaf1	A	G	7: 140,877,486 (GRCm39)	V547A	possibly damaging	Het
Dmxl1	C	T	18: 50,011,698 (GRCm39)	T1285I	probably damaging	Het
Dnah3	C	A	7: 119,646,921 (GRCm39)	W1036L	probably damaging	Het
Dnai3	A	G	3: 145,753,922 (GRCm39)	S713P	probably damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dsg2	T	A	18: 20,735,302 (GRCm39)	D1093E	possibly damaging	Het
Edaradd	T	A	13: 12,523,304 (GRCm39)	H12L	probably damaging	Het
Enam	T	C	5: 88,640,827 (GRCm39)	M163T	probably benign	Het
Fbxo22	T	A	9: 55,128,333 (GRCm39)	V218E	probably damaging	Het
Fbxo34	A	T	14: 47,767,085 (GRCm39)	K148N	probably damaging	Het
Foxi3	A	G	6: 70,933,960 (GRCm39)	D149G	probably damaging	Het
Gbp8	C	T	5: 105,189,807 (GRCm39)	G75D	probably damaging	Het
Gm10784	C	T	13: 50,099,251 (GRCm39)		noncoding transcript	Het
Gm7247	G	A	14: 51,807,051 (GRCm39)		probably null	Het
Grik3	T	A	4: 125,544,278 (GRCm39)	V333E	probably damaging	Het
Gsap	A	T	5: 21,431,309 (GRCm39)	D211V	probably damaging	Het
H2-T15	T	C	17: 36,368,768 (GRCm39)	Y104C	possibly damaging	Het
Ino80	T	C	2: 119,261,489 (GRCm39)	N725S	probably damaging	Het
Itgad	A	G	7: 127,788,703 (GRCm39)	I443V	probably benign	Het
Itsn1	T	A	16: 91,638,476 (GRCm39)	I52N	probably damaging	Het
Kmt2b	TCTCCTCCTCCTCCTCCTCCTCCTCC	TCTCCTCCTCCTCCTCCTCCTCC	7: 30,285,783 (GRCm39)		probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Lyn	C	A	4: 3,738,850 (GRCm39)	Q41K	probably benign	Het
Mapk13	C	T	17: 28,997,461 (GRCm39)	R360*	probably null	Het
Mapk8ip3	T	A	17: 25,123,726 (GRCm39)	I599F	probably damaging	Het
Me1	T	C	9: 86,561,905 (GRCm39)	K60R	probably benign	Het
Mga	T	A	2: 119,771,974 (GRCm39)	D1532E	possibly damaging	Het
Miga1	G	A	3: 151,984,642 (GRCm39)	S427L	probably benign	Het
Mknk2	A	T	10: 80,505,173 (GRCm39)	V186E	probably damaging	Het
Myo1a	C	A	10: 127,546,086 (GRCm39)	N236K	probably benign	Het
Myt1	A	G	2: 181,439,207 (GRCm39)	D243G	probably benign	Het
Ncf4	T	C	15: 78,140,189 (GRCm39)	V196A	possibly damaging	Het
Nlrp5	G	T	7: 23,117,603 (GRCm39)	L442F	probably damaging	Het
Olfm4	G	A	14: 80,258,747 (GRCm39)	D332N	probably benign	Het
Or4a81	C	A	2: 89,619,637 (GRCm39)	V20F	probably benign	Het
Or4b1d	T	A	2: 89,969,432 (GRCm39)	D17V	probably damaging	Het
Osbpl11	T	A	16: 33,016,452 (GRCm39)	M69K	probably benign	Het
Oxnad1	T	A	14: 31,824,366 (GRCm39)	*312K	probably null	Het
Plekhh2	T	C	17: 84,882,691 (GRCm39)	Y733H	probably damaging	Het
Ppp1r21	A	G	17: 88,856,941 (GRCm39)	H132R	probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Pudp	T	C	18: 50,701,259 (GRCm39)	D158G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Ranbp3	T	A	17: 57,003,640 (GRCm39)		probably null	Het
Ranbp6	A	G	19: 29,787,721 (GRCm39)	V877A	probably benign	Het
Rgsl1	A	T	1: 153,693,328 (GRCm39)	S618T	probably benign	Het
Rhox2a	A	T	X: 36,509,015 (GRCm39)	I61L	probably benign	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rnf207	A	C	4: 152,396,612 (GRCm39)	D466E	probably benign	Het
Rnf7	A	G	9: 96,353,883 (GRCm39)	I80T	probably benign	Het
Ros1	T	A	10: 52,005,764 (GRCm39)	I878F	possibly damaging	Het
Rsbn1	T	A	3: 103,861,096 (GRCm39)		probably null	Het
Sbk1	T	C	7: 125,890,301 (GRCm39)	S105P	probably damaging	Het
Sdk1	T	C	5: 141,992,380 (GRCm39)	Y790H	probably damaging	Het
Sec62	T	A	3: 30,864,683 (GRCm39)	N182K	unknown	Het
Slc15a1	T	C	14: 121,715,504 (GRCm39)	Y345C	probably damaging	Het
Slc27a1	G	A	8: 72,023,408 (GRCm39)	A15T	probably benign	Het
Slc35d1	A	G	4: 103,070,426 (GRCm39)	F110L	probably damaging	Het
Slc39a5	T	A	10: 128,233,136 (GRCm39)	S333C	probably benign	Het
Tarbp1	A	G	8: 127,173,934 (GRCm39)	S927P	probably damaging	Het
Tns1	A	G	1: 73,992,930 (GRCm39)	S583P	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trim40	T	C	17: 37,193,531 (GRCm39)		probably null	Het
Trim42	C	A	9: 97,244,998 (GRCm39)	V601L	probably benign	Het
Trpc7	G	A	13: 57,035,367 (GRCm39)	R189C	probably damaging	Het
Ttc29	A	T	8: 79,060,208 (GRCm39)	Y376F	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vmn2r68	C	A	7: 84,870,743 (GRCm39)	A847S	probably benign	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	possibly damaging	Het
Zfat	A	G	15: 68,056,325 (GRCm39)	Y237H	probably damaging	Het
Zfp236	A	T	18: 82,615,784 (GRCm39)	W1840R	probably damaging	Het
Zfp426	G	T	9: 20,381,923 (GRCm39)	Q341K	possibly damaging	Het
Zfp462	T	A	4: 55,009,349 (GRCm39)	N438K	probably benign	Het
Zfp952	T	A	17: 33,221,899 (GRCm39)	V88E	probably damaging	Het
Znfx1	G	T	2: 166,898,276 (GRCm39)	A216D	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACCAGGTTGTGTGAAGAGAAC -3'
(R):5'- GCTAACTCTGGGGTACTCTTGG -3'

Sequencing Primer
(F):5'- GAGAACGCTTCAAGTCGCC -3'
(R):5'- TACTCTTGGGGCGAACAGAGTC -3'

Posted On

2015-10-08