Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03028:Arhgef12'

408264

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

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

IGL03028

Quality Score

Status

Chromosome

Chromosomal Location

42963842-43107239 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43026228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 100 (D100E)

Ref Sequence

ENSEMBL: ENSMUSP00000126598 (fasta)

Gene Model

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

AlphaFold

Q8R4H2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072767
AA Change: D100E

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: D100E

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

possibly damaging
Transcript: ENSMUST00000165665
AA Change: D100E

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: D100E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213566
AA Change: D47E

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217502

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	C	9: 53,594,762	V86G	probably benign	Het
Adgra3	A	T	5: 50,016,852	W115R	probably benign	Het
Ahr	G	A	12: 35,504,710	A470V	probably benign	Het
AI481877	A	C	4: 59,094,274	I150S	possibly damaging	Het
Aoah	A	T	13: 20,816,582	Q62L	possibly damaging	Het
Asic1	A	G	15: 99,672,157	N120D	probably benign	Het
Atp2b2	A	G	6: 113,759,142	L988P	probably damaging	Het
Atxn2	T	A	5: 121,810,909	H789Q	probably damaging	Het
Clk1	G	T	1: 58,421,102	S123*	probably null	Het
Col10a1	C	T	10: 34,395,016	A328V	probably benign	Het
Col26a1	G	T	5: 136,743,118	D415E	possibly damaging	Het
Ctla2a	A	G	13: 60,935,459		probably benign	Het
Cwf19l2	A	G	9: 3,430,622	E318G	probably benign	Het
Dnajc16	C	T	4: 141,767,732	W523*	probably null	Het
Ehhadh	T	C	16: 21,762,394	E616G	probably damaging	Het
F5	A	T	1: 164,193,000	K1015*	probably null	Het
Fam78a	A	G	2: 32,082,882	W9R	possibly damaging	Het
Frs2	A	T	10: 117,073,933	M508K	possibly damaging	Het
Gm3164	A	T	14: 4,440,111	M200L	probably benign	Het
Gm44511	T	C	6: 128,780,395	S179G	probably damaging	Het
Gpr25	G	A	1: 136,260,812	S21L	probably benign	Het
Hsdl2	A	G	4: 59,594,471	D34G	probably damaging	Het
Kcnt1	A	G	2: 25,909,203		probably null	Het
Kl	A	G	5: 150,991,550	Y914C	probably damaging	Het
Map3k3	T	G	11: 106,110,751	V45G	probably damaging	Het
Mppe1	A	C	18: 67,227,684	C261W	probably damaging	Het
Nin	T	C	12: 70,035,270	T1640A	probably benign	Het
Olfr368	C	T	2: 37,331,956	L70F	probably damaging	Het
Olfr483	T	A	7: 108,104,173	M288K	probably damaging	Het
Olfr570	T	A	7: 102,900,829	I154N	possibly damaging	Het
Olfr616	A	G	7: 103,564,589		probably null	Het
Olfr844	A	T	9: 19,319,368	Y284F	probably damaging	Het
Oxr1	A	G	15: 41,817,163	N166D	probably damaging	Het
Pank4	T	A	4: 154,969,985		probably benign	Het
Pgd	A	G	4: 149,161,627		probably null	Het
Pitrm1	C	T	13: 6,574,393	H831Y	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Rad51	A	C	2: 119,116,314	M1L	possibly damaging	Het
Recql5	G	T	11: 115,894,431	S746R	possibly damaging	Het
Rhbdl3	C	T	11: 80,323,461	Q133*	probably null	Het
Rpp40	A	T	13: 35,904,511	L59Q	probably damaging	Het
Rtca	C	A	3: 116,493,092		probably benign	Het
Rtkn	C	T	6: 83,147,872	Q108*	probably null	Het
Sirt6	C	T	10: 81,627,541		probably benign	Het
Slc9a4	G	A	1: 40,610,377	V517M	probably benign	Het
Smarca2	G	T	19: 26,678,312		probably benign	Het
Snx33	A	T	9: 56,926,451	D111E	probably benign	Het
Tgfb1	T	C	7: 25,704,196	I311T	probably damaging	Het
Tgfb2	C	T	1: 186,630,609		probably null	Het
Tmem232	T	C	17: 65,256,389	T670A	probably benign	Het
Tnfsf4	T	C	1: 161,395,642	F21L	possibly damaging	Het
Ubr5	T	C	15: 38,047,593	T47A	probably benign	Het
Unc79	T	C	12: 103,173,526	V2515A	possibly damaging	Het
Utp6	T	C	11: 79,953,624	K192E	probably damaging	Het
Vmn2r102	T	C	17: 19,694,066	F631S	possibly damaging	Het
Zfp516	A	C	18: 82,955,913	I79L	possibly damaging	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
IGL02272:Arhgef12	APN	9	43001452	missense	probably damaging	1.00
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
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
R9116:Arhgef12	UTSW	9	42981945	splice site	probably benign
R9127:Arhgef12	UTSW	9	42974574	missense	possibly damaging	0.94
R9602:Arhgef12	UTSW	9	42984380	missense	probably damaging	1.00
R9665:Arhgef12	UTSW	9	43018354	missense	possibly damaging	0.89
R9733:Arhgef12	UTSW	9	42989998	nonsense	probably null
R9735:Arhgef12	UTSW	9	42971103	nonsense	probably null
R9760:Arhgef12	UTSW	9	42992022	missense	probably damaging	1.00
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

2016-08-02