Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02272:Arhgef12'

287182

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef12

Ensembl Gene

ENSMUSG00000059495

Gene Name

Rho guanine nucleotide exchange factor (GEF) 12

Synonyms

LARG, 2310014B11Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.939) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

42963842-43107239 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43001452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 483 (D483V)

Ref Sequence

ENSEMBL: ENSMUSP00000126598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072767] [ENSMUST00000165665]

AlphaFold

Q8R4H2

Predicted Effect

probably damaging
Transcript: ENSMUST00000072767
AA Change: D482V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: D482V

Domain	Start	End	E-Value	Type
low complexity region	49	64	N/A	INTRINSIC
PDZ	80	148	1.64e-19	SMART
coiled coil region	196	259	N/A	INTRINSIC
low complexity region	293	313	N/A	INTRINSIC
Pfam:RGS-like	368	558	8.6e-87	PFAM
low complexity region	583	596	N/A	INTRINSIC
low complexity region	663	676	N/A	INTRINSIC
low complexity region	721	733	N/A	INTRINSIC
RhoGEF	791	976	6.35e-66	SMART
PH	1020	1134	6.26e-6	SMART
low complexity region	1256	1269	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165665
AA Change: D483V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: D483V

Domain	Start	End	E-Value	Type
low complexity region	49	64	N/A	INTRINSIC
PDZ	80	148	1.64e-19	SMART
coiled coil region	196	259	N/A	INTRINSIC
low complexity region	293	313	N/A	INTRINSIC
Pfam:RGS-like	369	559	1.6e-88	PFAM
low complexity region	584	597	N/A	INTRINSIC
low complexity region	664	677	N/A	INTRINSIC
low complexity region	722	734	N/A	INTRINSIC
RhoGEF	792	977	6.35e-66	SMART
PH	1021	1135	6.26e-6	SMART
low complexity region	1257	1270	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased sensitivity to certain vasoconstrictors and resistance to salt-induced hypertension. Mice homozygous for a different knock-out allele exhibit partial prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,450,021	C759*	probably null	Het
Adgrg6	T	A	10: 14,468,829	M127L	probably damaging	Het
AI314180	A	T	4: 58,811,731	N1439K	probably benign	Het
Anxa9	A	G	3: 95,305,894	V47A	probably benign	Het
Arrdc3	C	A	13: 80,891,650		probably benign	Het
Ccdc169	A	G	3: 55,150,748	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,960,022	V731D	possibly damaging	Het
Cdh3	G	T	8: 106,547,836		probably null	Het
Cntnap1	G	A	11: 101,178,316	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,757,411	V852E	probably damaging	Het
Csmd1	A	T	8: 16,199,893	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,993,265		probably benign	Het
Dusp6	T	A	10: 99,266,019	V289D	probably damaging	Het
Epha6	C	T	16: 59,818,937	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,779,704	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,269,803	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,164,781	V152E	probably benign	Het
Hmces	A	G	6: 87,917,855		probably null	Het
Hsph1	A	G	5: 149,617,530	S852P	probably benign	Het
Kat6b	A	C	14: 21,626,778	K394Q	probably damaging	Het
Kdr	G	A	5: 75,961,840	T475I	probably benign	Het
Klhl25	A	G	7: 75,866,620	T425A	probably benign	Het
Klk1b8	T	A	7: 43,952,793	C50S	probably damaging	Het
Kri1	T	C	9: 21,276,168	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,305,769	S953P	probably benign	Het
Lpin1	A	G	12: 16,547,600	V681A	probably damaging	Het
Lpin3	A	G	2: 160,901,661	T508A	probably benign	Het
Moxd1	T	A	10: 24,282,700	Y417*	probably null	Het
Mthfd1l	T	G	10: 4,041,812	I588S	probably damaging	Het
Myo5c	C	A	9: 75,266,160	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,884,600		probably benign	Het
Nme8	T	C	13: 19,658,826	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,567,979	N249T	probably damaging	Het
Pex11g	A	G	8: 3,465,898	V45A	probably benign	Het
Pkhd1	C	A	1: 20,209,260	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,993,628	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,236,489	V353A	probably damaging	Het
Prss16	T	A	13: 22,003,035	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,721,208	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,716,566	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,598,782	L598F	probably damaging	Het
Sardh	T	G	2: 27,224,991	D550A	probably benign	Het
Serpinc1	T	G	1: 160,999,992	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,121,167	D650V	probably benign	Het
Sipa1l2	T	A	8: 125,492,011	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,583,568	T294A	probably benign	Het
Srrm2	T	C	17: 23,815,782		probably benign	Het
Steap2	T	A	5: 5,677,612	N241I	probably benign	Het
Tcaf3	T	C	6: 42,596,660	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,978,463	Q322L	probably damaging	Het
Tnni2	C	A	7: 142,443,429	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,735,028	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,976,153	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071	K331N	probably damaging	Het
Usp50	G	A	2: 126,769,944	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,385,999	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,386,004	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,786,884	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,750,693	R383G	probably benign	Het

Other mutations in Arhgef12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Arhgef12	APN	9	43020624	missense	probably damaging	1.00
IGL00942:Arhgef12	APN	9	42982000	missense	probably damaging	1.00
IGL01529:Arhgef12	APN	9	42990055	missense	probably damaging	1.00
IGL01845:Arhgef12	APN	9	43022841	missense	possibly damaging	0.56
IGL02039:Arhgef12	APN	9	42972267	missense	probably benign
IGL02135:Arhgef12	APN	9	42972165	missense	possibly damaging	0.68
IGL02498:Arhgef12	APN	9	42982043	missense	probably benign	0.19
IGL02507:Arhgef12	APN	9	42992563	missense	probably damaging	1.00
IGL02574:Arhgef12	APN	9	43005623	missense	probably damaging	0.99
IGL02586:Arhgef12	APN	9	43005904	nonsense	probably null
IGL02803:Arhgef12	APN	9	42972028	missense	possibly damaging	0.48
IGL02892:Arhgef12	APN	9	43000972	missense	possibly damaging	0.79
IGL02937:Arhgef12	APN	9	43015920	missense	probably damaging	0.97
IGL02992:Arhgef12	APN	9	42999077	missense	probably damaging	1.00
IGL03028:Arhgef12	APN	9	43026228	missense	possibly damaging	0.84
IGL03146:Arhgef12	APN	9	42974570	missense	possibly damaging	0.90
IGL03193:Arhgef12	APN	9	42992533	splice site	probably benign
IGL03398:Arhgef12	APN	9	42978226	missense	probably damaging	1.00
R0019:Arhgef12	UTSW	9	42978233	missense	probably damaging	1.00
R0143:Arhgef12	UTSW	9	43005594	missense	probably damaging	1.00
R0211:Arhgef12	UTSW	9	42972004	missense	probably damaging	0.97
R0330:Arhgef12	UTSW	9	43020686	missense	probably damaging	0.97
R0364:Arhgef12	UTSW	9	43018401	missense	probably damaging	0.99
R0426:Arhgef12	UTSW	9	42970990	splice site	probably null
R0658:Arhgef12	UTSW	9	42981985	missense	probably damaging	1.00
R0686:Arhgef12	UTSW	9	42993028	missense	probably benign	0.02
R0693:Arhgef12	UTSW	9	43018401	missense	probably damaging	0.99
R0990:Arhgef12	UTSW	9	42972381	missense	probably benign	0.00
R1147:Arhgef12	UTSW	9	43044256	unclassified	probably benign
R1395:Arhgef12	UTSW	9	43005870	missense	probably damaging	1.00
R1419:Arhgef12	UTSW	9	43027220	missense	probably damaging	1.00
R1451:Arhgef12	UTSW	9	42992578	splice site	probably benign
R1458:Arhgef12	UTSW	9	42988998	missense	probably damaging	0.98
R1654:Arhgef12	UTSW	9	42997660	missense	possibly damaging	0.83
R1722:Arhgef12	UTSW	9	43020717	makesense	probably null
R1773:Arhgef12	UTSW	9	43005542	critical splice donor site	probably null
R1895:Arhgef12	UTSW	9	43005856	missense	probably damaging	1.00
R2109:Arhgef12	UTSW	9	42979472	missense	possibly damaging	0.75
R2215:Arhgef12	UTSW	9	43005871	missense	probably damaging	1.00
R2421:Arhgef12	UTSW	9	43001006	missense	probably damaging	1.00
R3967:Arhgef12	UTSW	9	43005551	missense	probably damaging	1.00
R3968:Arhgef12	UTSW	9	43005551	missense	probably damaging	1.00
R3969:Arhgef12	UTSW	9	43005551	missense	probably damaging	1.00
R4077:Arhgef12	UTSW	9	42975292	missense	probably damaging	0.99
R4079:Arhgef12	UTSW	9	42975292	missense	probably damaging	0.99
R4111:Arhgef12	UTSW	9	42972274	missense	probably damaging	1.00
R4302:Arhgef12	UTSW	9	43018349	nonsense	probably null
R4327:Arhgef12	UTSW	9	42975229	nonsense	probably null
R4462:Arhgef12	UTSW	9	42981982	missense	probably damaging	1.00
R4583:Arhgef12	UTSW	9	42977662	missense	probably damaging	1.00
R4603:Arhgef12	UTSW	9	43010193	missense	probably benign	0.27
R4650:Arhgef12	UTSW	9	42981970	missense	probably damaging	1.00
R4741:Arhgef12	UTSW	9	42972153	missense	possibly damaging	0.54
R4823:Arhgef12	UTSW	9	43020696	missense	probably benign
R4840:Arhgef12	UTSW	9	42975068	missense	probably benign	0.04
R4912:Arhgef12	UTSW	9	42993065	nonsense	probably null
R5176:Arhgef12	UTSW	9	43020686	missense	probably damaging	0.97
R5426:Arhgef12	UTSW	9	42986584	missense	probably damaging	1.00
R5579:Arhgef12	UTSW	9	43010193	missense	probably benign	0.27
R5838:Arhgef12	UTSW	9	43005608	missense	probably damaging	1.00
R6230:Arhgef12	UTSW	9	42988965	missense	probably benign	0.04
R6741:Arhgef12	UTSW	9	42972207	missense	probably benign	0.05
R6959:Arhgef12	UTSW	9	43015953	missense	probably benign
R7252:Arhgef12	UTSW	9	43015909	missense	probably benign	0.17
R7470:Arhgef12	UTSW	9	43040552	missense	probably damaging	1.00
R7658:Arhgef12	UTSW	9	42992536	missense	probably damaging	1.00
R7724:Arhgef12	UTSW	9	43027271	missense	probably damaging	1.00
R7980:Arhgef12	UTSW	9	42971299	nonsense	probably null
R8074:Arhgef12	UTSW	9	42971103	nonsense	probably null
R8155:Arhgef12	UTSW	9	43042662	missense	probably damaging	1.00
R8270:Arhgef12	UTSW	9	42971058	missense	probably benign
R8407:Arhgef12	UTSW	9	43026179	critical splice donor site	probably null
R8527:Arhgef12	UTSW	9	42997648	missense	possibly damaging	0.95
R9127:Arhgef12	UTSW	9	42974574	missense	possibly damaging	0.94
RF020:Arhgef12	UTSW	9	42989989	missense	possibly damaging	0.75
Z1176:Arhgef12	UTSW	9	42971072	missense	probably benign	0.00
Z1186:Arhgef12	UTSW	9	43000015	missense	probably damaging	1.00

Posted On

2015-04-16