Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Plekhg1'

206582

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

039851-MU

Accession Numbers

Ncbi RefSeq: NM_001159942.1, NM_001033253.3; MGI:2676551

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R1823 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3740364-3967303 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 3903658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

A0A5F8MPP0

Predicted Effect

probably null
Transcript: ENSMUST00000042438

SMART Domains

Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624

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 null
Transcript: ENSMUST00000042438

SMART Domains

Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624

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 null
Transcript: ENSMUST00000120274

SMART Domains

Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624

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 null
Transcript: ENSMUST00000120274

SMART Domains

Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624

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: ENSMUST00000131525

Predicted Effect

probably null
Transcript: ENSMUST00000136671

SMART Domains

Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624

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

noncoding transcript
Transcript: ENSMUST00000137111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144543

Predicted Effect

probably null
Transcript: ENSMUST00000154727

SMART Domains

Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624

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

Predicted Effect

probably null
Transcript: ENSMUST00000154727

SMART Domains

Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624

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: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

Allele List at MGI

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

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,468	T213A	probably benign	Het
Adcy1	G	A	11: 7,161,312	V868I	probably benign	Het
Ahnak	G	T	19: 9,004,905	M1184I	probably damaging	Het
Akap11	T	C	14: 78,511,488	E1153G	probably damaging	Het
Amy1	T	C	3: 113,562,727	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427	L129P	probably damaging	Het
Aox2	A	T	1: 58,312,359	T702S	probably benign	Het
Apobec1	G	T	6: 122,578,886	T204K	possibly damaging	Het
Arhgef19	A	G	4: 141,249,146	R433G	probably benign	Het
Atf6b	T	A	17: 34,648,644	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,475,852		probably null	Het
Camsap2	T	C	1: 136,273,783	T662A	possibly damaging	Het
Cbs	G	A	17: 31,624,271	H229Y	probably damaging	Het
Cct8	G	A	16: 87,490,554	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,327,559	A250T	probably damaging	Het
Chrd	A	G	16: 20,741,347		probably benign	Het
Ckap2l	A	G	2: 129,275,579	F559L	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,557	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,397,539	N557S	probably benign	Het
Dct	T	G	14: 118,036,523	N324T	probably benign	Het
Dip2a	A	T	10: 76,278,502	L999*	probably null	Het
Dock10	T	A	1: 80,543,097		probably null	Het
Dync2li1	A	T	17: 84,649,797	D330V	probably damaging	Het
Eif4g3	T	A	4: 138,180,491	D1267E	probably benign	Het
Enc1	A	G	13: 97,245,978	E332G	possibly damaging	Het
Fat2	C	T	11: 55,256,780	V3879I	probably benign	Het
Fh1	A	T	1: 175,616,548	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,337,091	L227P	probably damaging	Het
Fpr1	T	A	17: 17,877,053	M225L	probably benign	Het
Fras1	A	T	5: 96,770,688	I3528F	probably damaging	Het
Grm7	A	G	6: 111,207,769	T354A	probably benign	Het
Ift27	T	A	15: 78,173,778	I9F	possibly damaging	Het
Igf1r	A	G	7: 68,194,981	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,331,732	L738Q	probably damaging	Het
Itgam	A	T	7: 128,064,732	T44S	probably benign	Het
Ivd	T	A	2: 118,862,034	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,956,365	V251A	probably benign	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,825,097		probably benign	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Myocd	C	A	11: 65,178,670	M909I	probably benign	Het
Ndufv3	G	A	17: 31,531,245	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,523,252	V319M	probably damaging	Het
Olfr1216	A	G	2: 89,013,378	S229P	probably benign	Het
Olfr1342	T	A	4: 118,690,192	N87Y	probably damaging	Het
Olfr1453	C	A	19: 13,027,817	V171L	probably benign	Het
Olfr31	T	A	14: 14,328,774	L221Q	probably damaging	Het
Olfr366	T	C	2: 37,220,332	V281A	probably damaging	Het
Olfr406	C	T	11: 74,270,217	A276V	probably damaging	Het
Olfr450	G	T	6: 42,818,268	A266S	possibly damaging	Het
Parp4	T	C	14: 56,589,872		probably benign	Het
Pcdhb9	A	G	18: 37,402,818	T622A	probably benign	Het
Pdpk1	A	T	17: 24,098,176		probably benign	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Plekhh2	A	G	17: 84,575,189	Y708C	probably damaging	Het
Pnp	T	C	14: 50,950,329	F107L	probably damaging	Het
Postn	T	A	3: 54,385,287		probably null	Het
Prcp	A	T	7: 92,928,675	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,270,194	I52F	probably damaging	Het
Pym1	G	A	10: 128,766,044		probably benign	Het
Rad9a	A	T	19: 4,197,242	I248N	probably damaging	Het
Ror2	T	G	13: 53,110,305	E917A	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sema6d	A	G	2: 124,659,556		probably null	Het
Slc4a2	C	T	5: 24,427,620	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,961,176		noncoding transcript	Het
Slf2	A	T	19: 44,935,248	H167L	possibly damaging	Het
Snx9	G	T	17: 5,920,671	G429V	probably damaging	Het
Sod3	G	T	5: 52,368,162	V68L	probably benign	Het
Spta1	T	A	1: 174,246,549	D2351E	probably benign	Het
Srpk3	G	A	X: 73,777,955	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,916,156	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Tmem27	A	G	X: 164,118,234	D184G	possibly damaging	Het
Tnfsf9	A	G	17: 57,105,738	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,315,163	L163P	possibly damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Ucp1	C	T	8: 83,294,032	T157I	probably damaging	Het
Uspl1	T	A	5: 149,214,414	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,985,595	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,410,406	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 87,037,872	I820M	probably damaging	Het
Wscd1	C	A	11: 71,760,218	P124T	probably benign	Het
Zfp780b	A	T	7: 27,963,100	C677S	possibly damaging	Het

Other mutations in Plekhg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Plekhg1	APN	10	3963631	missense	probably benign	0.02
IGL01639:Plekhg1	APN	10	3956751	missense	probably damaging	0.98
IGL01766:Plekhg1	APN	10	3873400	missense	probably damaging	1.00
IGL01983:Plekhg1	APN	10	3945904	missense	probably damaging	1.00
IGL02226:Plekhg1	APN	10	3945916	missense	probably damaging	0.99
IGL02420:Plekhg1	APN	10	3964106	missense	probably damaging	1.00
IGL02441:Plekhg1	APN	10	3958103	missense	possibly damaging	0.89
IGL02505:Plekhg1	APN	10	3957139	missense	probably damaging	0.97
IGL02659:Plekhg1	APN	10	3957069	nonsense	probably null
IGL02730:Plekhg1	APN	10	3873242	missense	possibly damaging	0.59
BB006:Plekhg1	UTSW	10	3919170	missense	probably damaging	0.99
BB016:Plekhg1	UTSW	10	3919170	missense	probably damaging	0.99
PIT4453001:Plekhg1	UTSW	10	3963469	missense
R0041:Plekhg1	UTSW	10	3964076	nonsense	probably null
R0041:Plekhg1	UTSW	10	3964074	missense	probably benign	0.02
R0068:Plekhg1	UTSW	10	3940502	missense	probably damaging	0.99
R0068:Plekhg1	UTSW	10	3940504	nonsense	probably null
R0333:Plekhg1	UTSW	10	3964419	missense	probably damaging	1.00
R0427:Plekhg1	UTSW	10	3964235	missense	probably benign	0.01
R0499:Plekhg1	UTSW	10	3937971	missense	probably damaging	1.00
R0504:Plekhg1	UTSW	10	3937853	missense	probably damaging	1.00
R1499:Plekhg1	UTSW	10	3940538	splice site	probably benign
R1501:Plekhg1	UTSW	10	3957361	missense	probably benign	0.02
R1565:Plekhg1	UTSW	10	3940526	missense	probably damaging	1.00
R1801:Plekhg1	UTSW	10	3963904	missense	probably damaging	1.00
R1858:Plekhg1	UTSW	10	3945917	missense	possibly damaging	0.95
R1984:Plekhg1	UTSW	10	3958181	missense	probably damaging	1.00
R2420:Plekhg1	UTSW	10	3958048	missense	probably benign	0.39
R2421:Plekhg1	UTSW	10	3958048	missense	probably benign	0.39
R2422:Plekhg1	UTSW	10	3958048	missense	probably benign	0.39
R2437:Plekhg1	UTSW	10	3963564	missense	probably damaging	1.00
R2872:Plekhg1	UTSW	10	3963982	missense	probably benign
R2872:Plekhg1	UTSW	10	3963982	missense	probably benign
R3830:Plekhg1	UTSW	10	3873400	missense	probably damaging	1.00
R4058:Plekhg1	UTSW	10	3957087	missense	probably damaging	1.00
R4059:Plekhg1	UTSW	10	3957087	missense	probably damaging	1.00
R4649:Plekhg1	UTSW	10	3956985	missense	probably benign	0.00
R4731:Plekhg1	UTSW	10	3957506	missense	probably benign	0.01
R4732:Plekhg1	UTSW	10	3957506	missense	probably benign	0.01
R4733:Plekhg1	UTSW	10	3957506	missense	probably benign	0.01
R4772:Plekhg1	UTSW	10	3873127	missense	probably benign	0.00
R4772:Plekhg1	UTSW	10	3873130	missense	probably damaging	1.00
R4803:Plekhg1	UTSW	10	3957186	missense	probably benign	0.02
R5086:Plekhg1	UTSW	10	3903649	missense	probably damaging	1.00
R5175:Plekhg1	UTSW	10	3965516	unclassified	probably benign
R5283:Plekhg1	UTSW	10	3956654	missense	probably benign	0.00
R5862:Plekhg1	UTSW	10	3937914	missense	probably damaging	1.00
R6163:Plekhg1	UTSW	10	3964369	missense	probably damaging	1.00
R6564:Plekhg1	UTSW	10	3964153	missense	probably damaging	1.00
R6700:Plekhg1	UTSW	10	3957373	missense	probably benign
R6930:Plekhg1	UTSW	10	3963770	missense	possibly damaging	0.56
R7033:Plekhg1	UTSW	10	3940251	missense	probably damaging	0.97
R7200:Plekhg1	UTSW	10	3956810	missense
R7223:Plekhg1	UTSW	10	3873343	missense
R7353:Plekhg1	UTSW	10	3964327	missense
R7488:Plekhg1	UTSW	10	3957491	missense
R7554:Plekhg1	UTSW	10	3963647	missense
R7929:Plekhg1	UTSW	10	3919170	missense	probably damaging	0.99
R8014:Plekhg1	UTSW	10	3957758	missense
R8104:Plekhg1	UTSW	10	3952326	missense
R8167:Plekhg1	UTSW	10	3957452	missense
R8167:Plekhg1	UTSW	10	3957453	missense
R8215:Plekhg1	UTSW	10	3957521	missense
R8263:Plekhg1	UTSW	10	3957651	missense
R8682:Plekhg1	UTSW	10	3947523	missense
R8746:Plekhg1	UTSW	10	3957777	missense
R9148:Plekhg1	UTSW	10	3957527	missense
R9220:Plekhg1	UTSW	10	3963805	missense
R9245:Plekhg1	UTSW	10	3957141	missense
R9520:Plekhg1	UTSW	10	3956822	missense
R9778:Plekhg1	UTSW	10	3937966	missense

Predicted Primers

PCR Primer
(F):5'- ATAGATGCCAGTGATTCATCTTGC -3'
(R):5'- CTGGAGACCAAGCTAGTGTG -3'

Sequencing Primer
(F):5'- GAATGCATACGGGACCAA -3'
(R):5'- ACCAAGCTAGTGTGATATTTGGATGC -3'

Posted On

2014-06-23