Mutagenetix > Incidental Mutation

Incidental Mutation 'R1858:Plekhg1'

206351

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

039882-MU

Accession Numbers

Essential gene?

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

Stock #

R1858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3690364-3917303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3895917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 436 (D436E)

Ref Sequence

ENSEMBL: ENSMUSP00000114056 (fasta)

Gene Model

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

AlphaFold

A0A5F8MPP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042438
AA Change: D436E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: D436E

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

possibly damaging
Transcript: ENSMUST00000120274
AA Change: D436E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: D436E

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: D491E

SMART Domains

Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: D491E

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: D290E

SMART Domains

Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: D290E

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

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.0%

Validation Efficiency

97% (112/116)

Allele List at MGI

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

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	A	1: 12,045,177 (GRCm39)	A443E	unknown	Het
Acacb	A	T	5: 114,334,770 (GRCm39)	Y613F	probably benign	Het
Adam23	A	C	1: 63,596,615 (GRCm39)	I566L	probably benign	Het
Adar	G	T	3: 89,646,589 (GRCm39)	R338L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Amotl1	T	A	9: 14,486,697 (GRCm39)	Q399L	probably benign	Het
Ankrd16	T	G	2: 11,783,407 (GRCm39)	L3R	probably benign	Het
Arfgap1	G	C	2: 180,615,881 (GRCm39)	G187R	probably damaging	Het
Arhgap19	A	T	19: 41,767,592 (GRCm39)	V399D	probably benign	Het
Arl4d	A	G	11: 101,557,578 (GRCm39)	T35A	probably damaging	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Bptf	A	G	11: 106,964,127 (GRCm39)	M1574T	probably benign	Het
Cacna1h	T	A	17: 25,599,781 (GRCm39)	D1684V	probably damaging	Het
Celsr1	C	A	15: 85,916,960 (GRCm39)	V338F	probably damaging	Het
Cep164	T	C	9: 45,734,938 (GRCm39)		probably benign	Het
Clock	C	A	5: 76,388,756 (GRCm39)	G390C	possibly damaging	Het
Col6a6	A	G	9: 105,658,301 (GRCm39)	F637S	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cstdc3	A	T	16: 36,128,449 (GRCm39)	I15F	probably damaging	Het
Cul1	A	G	6: 47,502,458 (GRCm39)		probably null	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp3a57	T	C	5: 145,318,059 (GRCm39)	Y347H	probably damaging	Het
Dgkq	G	T	5: 108,801,597 (GRCm39)	T487K	probably benign	Het
Dmkn	T	C	7: 30,463,990 (GRCm39)	V143A	probably benign	Het
Dmp1	A	T	5: 104,355,496 (GRCm39)	E32V	possibly damaging	Het
Dsc3	T	C	18: 20,098,773 (GRCm39)	D802G	probably damaging	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dyrk1b	A	T	7: 27,882,071 (GRCm39)		probably null	Het
Ehd2	T	C	7: 15,686,113 (GRCm39)	T320A	probably benign	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif4e1b	A	G	13: 54,935,091 (GRCm39)		probably null	Het
Fam131b	A	G	6: 42,295,914 (GRCm39)	F161L	probably damaging	Het
Fam171b	A	T	2: 83,683,725 (GRCm39)	M81L	probably benign	Het
Gal3st4	T	C	5: 138,269,050 (GRCm39)		probably null	Het
Gdf11	A	T	10: 128,722,315 (GRCm39)	V180E	probably damaging	Het
Grin3a	T	A	4: 49,792,437 (GRCm39)	Y432F	probably benign	Het
Hif1a	C	A	12: 73,990,929 (GRCm39)	H708N	probably benign	Het
Hmcn2	G	T	2: 31,305,295 (GRCm39)		probably null	Het
Hs3st6	T	A	17: 24,976,973 (GRCm39)	M151K	possibly damaging	Het
Hyal2	T	A	9: 107,449,537 (GRCm39)	L431Q	probably benign	Het
Hyal6	A	T	6: 24,740,857 (GRCm39)	T337S	probably benign	Het
Igsf5	A	T	16: 96,187,829 (GRCm39)		probably null	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Krtap19-3	G	A	16: 88,674,878 (GRCm39)		probably benign	Het
Lgalsl	T	C	11: 20,779,420 (GRCm39)	D75G	probably benign	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Ltbp2	T	A	12: 84,877,555 (GRCm39)	K337*	probably null	Het
Mdn1	C	T	4: 32,730,881 (GRCm39)	H2917Y	probably benign	Het
Medag	A	G	5: 149,353,259 (GRCm39)	I151M	probably damaging	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mmp3	A	G	9: 7,451,799 (GRCm39)	H379R	probably benign	Het
Mpg	A	G	11: 32,181,957 (GRCm39)		probably null	Het
Ncoa6	G	T	2: 155,263,559 (GRCm39)	Q292K	probably benign	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Nlrp4c	A	G	7: 6,087,655 (GRCm39)	I763V	probably benign	Het
Nlrp5	A	T	7: 23,117,586 (GRCm39)	I437F	probably damaging	Het
Noc2l	G	A	4: 156,329,727 (GRCm39)	R435Q	probably damaging	Het
Nova2	T	C	7: 18,692,326 (GRCm39)	I485T	probably damaging	Het
Nrxn2	G	A	19: 6,538,825 (GRCm39)	V794I	probably benign	Het
Nup210l	A	G	3: 90,061,806 (GRCm39)	T662A	probably damaging	Het
Or2ad1	A	T	13: 21,326,564 (GRCm39)	I221N	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or2p2	A	T	13: 21,256,641 (GRCm39)	F277I	probably damaging	Het
Or51aa2	G	A	7: 103,187,859 (GRCm39)	T194I	probably damaging	Het
Or51e2	A	C	7: 102,391,571 (GRCm39)	I213S	probably damaging	Het
Or51l14	G	A	7: 103,101,332 (GRCm39)	V263I	probably benign	Het
Or9g8	T	C	2: 85,607,582 (GRCm39)	L218P	probably damaging	Het
Pelp1	G	A	11: 70,285,568 (GRCm39)	P767S	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Plaat1	G	A	16: 29,036,470 (GRCm39)	G36D	probably damaging	Het
Plcxd3	T	A	15: 4,546,093 (GRCm39)		probably benign	Het
Ppfibp1	G	A	6: 146,892,090 (GRCm39)	V117I	probably benign	Het
Prss44	A	G	9: 110,643,177 (GRCm39)	K24R	probably benign	Het
Ptger1	G	T	8: 84,395,107 (GRCm39)	G195W	probably benign	Het
Ptgs1	A	C	2: 36,132,782 (GRCm39)	D260A	probably benign	Het
Ptprd	T	A	4: 75,865,384 (GRCm39)	T1198S	probably damaging	Het
Qsox2	A	G	2: 26,104,074 (GRCm39)	S319P	probably damaging	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rapgef4	A	G	2: 71,861,408 (GRCm39)	I33V	possibly damaging	Het
Rbbp8nl	C	T	2: 179,924,006 (GRCm39)		probably benign	Het
Riok1	A	T	13: 38,242,694 (GRCm39)	K473*	probably null	Het
Rtca	C	T	3: 116,287,764 (GRCm39)	G288S	probably benign	Het
Sag	A	T	1: 87,742,570 (GRCm39)	D114V	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sec61g	A	G	11: 16,456,371 (GRCm39)		probably null	Het
Sf3a3	A	T	4: 124,623,288 (GRCm39)	I440F	probably damaging	Het
Sgta	T	C	10: 80,884,695 (GRCm39)	K205E	possibly damaging	Het
Slc36a4	A	G	9: 15,632,006 (GRCm39)	T61A	probably damaging	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Srgap3	A	T	6: 112,748,479 (GRCm39)	L391Q	probably damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Styxl2	T	C	1: 165,928,415 (GRCm39)	Y399C	possibly damaging	Het
Syt12	G	T	19: 4,497,825 (GRCm39)	H386N	probably damaging	Het
Thyn1	T	A	9: 26,915,070 (GRCm39)	M74K	probably benign	Het
Tmem130	C	A	5: 144,689,093 (GRCm39)		probably null	Het
Trim71	A	G	9: 114,392,016 (GRCm39)	V57A	possibly damaging	Het
Twf1	T	C	15: 94,483,428 (GRCm39)		probably benign	Het
Tyro3	T	A	2: 119,632,176 (GRCm39)	I81N	possibly damaging	Het
Unc13a	A	T	8: 72,105,043 (GRCm39)	C740S	probably damaging	Het
Vmn1r15	A	T	6: 57,235,616 (GRCm39)	K161N	probably benign	Het
Vmn1r16	A	T	6: 57,299,884 (GRCm39)	I246N	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Vmn2r35	T	C	7: 7,819,805 (GRCm39)	Y155C	possibly damaging	Het
Wif1	T	A	10: 120,919,788 (GRCm39)		probably null	Het
Wscd2	G	A	5: 113,689,231 (GRCm39)	R79Q	possibly damaging	Het
Zan	G	T	5: 137,404,139 (GRCm39)		probably benign	Het
Zfp9	G	T	6: 118,442,021 (GRCm39)	H214N	probably benign	Het
Zfp985	A	T	4: 147,667,315 (GRCm39)	Y61F	probably benign	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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

Predicted Primers

PCR Primer
(F):5'- TGTACCTAGGATAATCTTCGAATCTCC -3'
(R):5'- GGCTACCACATAAGGTTTGTTTG -3'

Sequencing Primer
(F):5'- ATCTCCTAAACTTTGTATTAATGCCC -3'
(R):5'- CCGGCCACATAAAGGTT -3'

Posted On

2014-06-23