Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02498:Arhgef12'

295886

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arhgef12

Ensembl Gene

ENSMUSG00000059495

Gene Name

Rho guanine nucleotide exchange factor 12

Synonyms

2310014B11Rik, LARG

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

IGL02498

Quality Score

Status

Chromosome

Chromosomal Location

42875138-43017069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42893339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 955 (P955S)

Ref Sequence

ENSEMBL: ENSMUSP00000126598 (fasta)

Gene Model

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

AlphaFold

Q8R4H2

Predicted Effect

probably benign
Transcript: ENSMUST00000072767
AA Change: P954S

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: P954S

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 benign
Transcript: ENSMUST00000165665
AA Change: P955S

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: P955S

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abcc9	A	T	6: 142,617,265 (GRCm39)		probably null	Het
Abcg8	T	C	17: 84,990,693 (GRCm39)	W12R	probably benign	Het
Ablim1	A	T	19: 57,140,751 (GRCm39)	C155*	probably null	Het
Adam33	A	G	2: 130,895,157 (GRCm39)	C658R	probably damaging	Het
Adamts2	A	G	11: 50,664,135 (GRCm39)	H357R	possibly damaging	Het
Adamts2	G	T	11: 50,668,023 (GRCm39)	K528N	probably damaging	Het
Atp2b2	T	A	6: 113,770,815 (GRCm39)	I365F	probably damaging	Het
AW112010	T	C	19: 11,025,701 (GRCm39)		noncoding transcript	Het
AY358078	T	C	14: 52,040,944 (GRCm39)	S88P	probably benign	Het
Cdc42bpg	T	C	19: 6,372,823 (GRCm39)	L1504S	probably benign	Het
Cracdl	T	C	1: 37,662,926 (GRCm39)	T991A	probably benign	Het
Dgkg	T	A	16: 22,367,441 (GRCm39)	H593L	probably damaging	Het
Gm10463	T	C	5: 32,288,742 (GRCm39)		probably benign	Het
Grm1	A	T	10: 10,595,723 (GRCm39)	L635Q	probably damaging	Het
Herc4	T	C	10: 63,109,244 (GRCm39)	C160R	probably benign	Het
Hs6st1	G	A	1: 36,142,821 (GRCm39)	R252H	probably damaging	Het
Litaf	A	G	16: 10,784,423 (GRCm39)	V29A	possibly damaging	Het
Lmo7	G	A	14: 102,044,918 (GRCm39)	V57I	probably benign	Het
Loxl4	A	T	19: 42,593,412 (GRCm39)	L253Q	probably benign	Het
Mon2	C	T	10: 122,870,235 (GRCm39)	V458I	probably benign	Het
Ncstn	G	T	1: 171,896,159 (GRCm39)	F506L	probably benign	Het
Nedd8	T	A	14: 55,901,273 (GRCm39)	D21V	probably damaging	Het
Oas1c	T	C	5: 120,943,591 (GRCm39)	T183A	possibly damaging	Het
Pcsk5	A	T	19: 17,488,920 (GRCm39)	Y967N	probably damaging	Het
Phf2	A	G	13: 48,958,715 (GRCm39)	S936P	unknown	Het
Pkd1	T	C	17: 24,804,753 (GRCm39)	I3159T	possibly damaging	Het
Prrt3	C	A	6: 113,474,788 (GRCm39)	V145F	possibly damaging	Het
Prx	T	A	7: 27,217,497 (GRCm39)	V666E	probably damaging	Het
Rapgef2	C	T	3: 78,974,060 (GRCm39)	V1577M	probably damaging	Het
Sesn3	T	C	9: 14,217,564 (GRCm39)		probably benign	Het
Shoc2	T	A	19: 54,016,207 (GRCm39)	L407*	probably null	Het
Slc6a12	A	G	6: 121,338,029 (GRCm39)	M435V	probably benign	Het
Smarcc1	C	T	9: 110,020,002 (GRCm39)	T623I	probably damaging	Het
Snx14	A	G	9: 88,289,517 (GRCm39)	L245S	probably damaging	Het
Son	T	A	16: 91,453,713 (GRCm39)	M820K	probably damaging	Het
Sorcs1	T	C	19: 50,666,606 (GRCm39)	T101A	probably benign	Het
Stoml2	C	A	4: 43,031,045 (GRCm39)	V37L	probably benign	Het
Syde2	T	A	3: 145,704,444 (GRCm39)	H465Q	probably benign	Het
Tmem164	T	A	X: 141,589,044 (GRCm39)	V40D	possibly damaging	Het
Trim37	A	G	11: 87,075,876 (GRCm39)	E494G	probably benign	Het
Triobp	A	G	15: 78,845,243 (GRCm39)	D195G	probably benign	Het
Unc79	G	A	12: 103,137,837 (GRCm39)	V2427M	probably damaging	Het
Usp27x	T	C	X: 7,239,780 (GRCm39)		probably benign	Het
Vmn2r113	T	A	17: 23,177,349 (GRCm39)	V711D	probably damaging	Het
Zfp940	T	C	7: 29,546,376 (GRCm39)	T7A	probably damaging	Het

Other mutations in Arhgef12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Arhgef12	APN	9	42,931,920 (GRCm39)	missense	probably damaging	1.00
IGL00942:Arhgef12	APN	9	42,893,296 (GRCm39)	missense	probably damaging	1.00
IGL01529:Arhgef12	APN	9	42,901,351 (GRCm39)	missense	probably damaging	1.00
IGL01845:Arhgef12	APN	9	42,934,137 (GRCm39)	missense	possibly damaging	0.56
IGL02039:Arhgef12	APN	9	42,883,563 (GRCm39)	missense	probably benign
IGL02135:Arhgef12	APN	9	42,883,461 (GRCm39)	missense	possibly damaging	0.68
IGL02272:Arhgef12	APN	9	42,912,748 (GRCm39)	missense	probably damaging	1.00
IGL02507:Arhgef12	APN	9	42,903,859 (GRCm39)	missense	probably damaging	1.00
IGL02574:Arhgef12	APN	9	42,916,919 (GRCm39)	missense	probably damaging	0.99
IGL02586:Arhgef12	APN	9	42,917,200 (GRCm39)	nonsense	probably null
IGL02803:Arhgef12	APN	9	42,883,324 (GRCm39)	missense	possibly damaging	0.48
IGL02892:Arhgef12	APN	9	42,912,268 (GRCm39)	missense	possibly damaging	0.79
IGL02937:Arhgef12	APN	9	42,927,216 (GRCm39)	missense	probably damaging	0.97
IGL02992:Arhgef12	APN	9	42,910,373 (GRCm39)	missense	probably damaging	1.00
IGL03028:Arhgef12	APN	9	42,937,524 (GRCm39)	missense	possibly damaging	0.84
IGL03146:Arhgef12	APN	9	42,885,866 (GRCm39)	missense	possibly damaging	0.90
IGL03193:Arhgef12	APN	9	42,903,829 (GRCm39)	splice site	probably benign
IGL03398:Arhgef12	APN	9	42,889,522 (GRCm39)	missense	probably damaging	1.00
R0019:Arhgef12	UTSW	9	42,889,529 (GRCm39)	missense	probably damaging	1.00
R0143:Arhgef12	UTSW	9	42,916,890 (GRCm39)	missense	probably damaging	1.00
R0211:Arhgef12	UTSW	9	42,883,300 (GRCm39)	missense	probably damaging	0.97
R0330:Arhgef12	UTSW	9	42,931,982 (GRCm39)	missense	probably damaging	0.97
R0364:Arhgef12	UTSW	9	42,929,697 (GRCm39)	missense	probably damaging	0.99
R0426:Arhgef12	UTSW	9	42,882,286 (GRCm39)	splice site	probably null
R0658:Arhgef12	UTSW	9	42,893,281 (GRCm39)	missense	probably damaging	1.00
R0686:Arhgef12	UTSW	9	42,904,324 (GRCm39)	missense	probably benign	0.02
R0693:Arhgef12	UTSW	9	42,929,697 (GRCm39)	missense	probably damaging	0.99
R0990:Arhgef12	UTSW	9	42,883,677 (GRCm39)	missense	probably benign	0.00
R1147:Arhgef12	UTSW	9	42,955,552 (GRCm39)	unclassified	probably benign
R1395:Arhgef12	UTSW	9	42,917,166 (GRCm39)	missense	probably damaging	1.00
R1419:Arhgef12	UTSW	9	42,938,516 (GRCm39)	missense	probably damaging	1.00
R1451:Arhgef12	UTSW	9	42,903,874 (GRCm39)	splice site	probably benign
R1458:Arhgef12	UTSW	9	42,900,294 (GRCm39)	missense	probably damaging	0.98
R1654:Arhgef12	UTSW	9	42,908,956 (GRCm39)	missense	possibly damaging	0.83
R1722:Arhgef12	UTSW	9	42,932,013 (GRCm39)	makesense	probably null
R1773:Arhgef12	UTSW	9	42,916,838 (GRCm39)	critical splice donor site	probably null
R1895:Arhgef12	UTSW	9	42,917,152 (GRCm39)	missense	probably damaging	1.00
R2109:Arhgef12	UTSW	9	42,890,768 (GRCm39)	missense	possibly damaging	0.75
R2215:Arhgef12	UTSW	9	42,917,167 (GRCm39)	missense	probably damaging	1.00
R2421:Arhgef12	UTSW	9	42,912,302 (GRCm39)	missense	probably damaging	1.00
R3967:Arhgef12	UTSW	9	42,916,847 (GRCm39)	missense	probably damaging	1.00
R3968:Arhgef12	UTSW	9	42,916,847 (GRCm39)	missense	probably damaging	1.00
R3969:Arhgef12	UTSW	9	42,916,847 (GRCm39)	missense	probably damaging	1.00
R4077:Arhgef12	UTSW	9	42,886,588 (GRCm39)	missense	probably damaging	0.99
R4079:Arhgef12	UTSW	9	42,886,588 (GRCm39)	missense	probably damaging	0.99
R4111:Arhgef12	UTSW	9	42,883,570 (GRCm39)	missense	probably damaging	1.00
R4302:Arhgef12	UTSW	9	42,929,645 (GRCm39)	nonsense	probably null
R4327:Arhgef12	UTSW	9	42,886,525 (GRCm39)	nonsense	probably null
R4462:Arhgef12	UTSW	9	42,893,278 (GRCm39)	missense	probably damaging	1.00
R4583:Arhgef12	UTSW	9	42,888,958 (GRCm39)	missense	probably damaging	1.00
R4603:Arhgef12	UTSW	9	42,921,489 (GRCm39)	missense	probably benign	0.27
R4650:Arhgef12	UTSW	9	42,893,266 (GRCm39)	missense	probably damaging	1.00
R4741:Arhgef12	UTSW	9	42,883,449 (GRCm39)	missense	possibly damaging	0.54
R4823:Arhgef12	UTSW	9	42,931,992 (GRCm39)	missense	probably benign
R4840:Arhgef12	UTSW	9	42,886,364 (GRCm39)	missense	probably benign	0.04
R4912:Arhgef12	UTSW	9	42,904,361 (GRCm39)	nonsense	probably null
R5176:Arhgef12	UTSW	9	42,931,982 (GRCm39)	missense	probably damaging	0.97
R5426:Arhgef12	UTSW	9	42,897,880 (GRCm39)	missense	probably damaging	1.00
R5579:Arhgef12	UTSW	9	42,921,489 (GRCm39)	missense	probably benign	0.27
R5838:Arhgef12	UTSW	9	42,916,904 (GRCm39)	missense	probably damaging	1.00
R6230:Arhgef12	UTSW	9	42,900,261 (GRCm39)	missense	probably benign	0.04
R6741:Arhgef12	UTSW	9	42,883,503 (GRCm39)	missense	probably benign	0.05
R6959:Arhgef12	UTSW	9	42,927,249 (GRCm39)	missense	probably benign
R7252:Arhgef12	UTSW	9	42,927,205 (GRCm39)	missense	probably benign	0.17
R7470:Arhgef12	UTSW	9	42,951,848 (GRCm39)	missense	probably damaging	1.00
R7658:Arhgef12	UTSW	9	42,903,832 (GRCm39)	missense	probably damaging	1.00
R7724:Arhgef12	UTSW	9	42,938,567 (GRCm39)	missense	probably damaging	1.00
R7980:Arhgef12	UTSW	9	42,882,595 (GRCm39)	nonsense	probably null
R8074:Arhgef12	UTSW	9	42,882,399 (GRCm39)	nonsense	probably null
R8155:Arhgef12	UTSW	9	42,953,958 (GRCm39)	missense	probably damaging	1.00
R8270:Arhgef12	UTSW	9	42,882,354 (GRCm39)	missense	probably benign
R8407:Arhgef12	UTSW	9	42,937,475 (GRCm39)	critical splice donor site	probably null
R8527:Arhgef12	UTSW	9	42,908,944 (GRCm39)	missense	possibly damaging	0.95
R9116:Arhgef12	UTSW	9	42,893,241 (GRCm39)	splice site	probably benign
R9127:Arhgef12	UTSW	9	42,885,870 (GRCm39)	missense	possibly damaging	0.94
R9602:Arhgef12	UTSW	9	42,895,676 (GRCm39)	missense	probably damaging	1.00
R9665:Arhgef12	UTSW	9	42,929,650 (GRCm39)	missense	possibly damaging	0.89
R9733:Arhgef12	UTSW	9	42,901,294 (GRCm39)	nonsense	probably null
R9735:Arhgef12	UTSW	9	42,882,399 (GRCm39)	nonsense	probably null
R9760:Arhgef12	UTSW	9	42,903,318 (GRCm39)	missense	probably damaging	1.00
RF020:Arhgef12	UTSW	9	42,901,285 (GRCm39)	missense	possibly damaging	0.75
Z1176:Arhgef12	UTSW	9	42,882,368 (GRCm39)	missense	probably benign	0.00
Z1186:Arhgef12	UTSW	9	42,911,311 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16