Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02937:Arhgef12'

364370

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: 0.936) question?

Stock #

IGL02937

Quality Score

Status

Chromosome

Chromosomal Location

42875138-43017069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42927216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 303 (S303C)

Ref Sequence

ENSEMBL: ENSMUSP00000072547 (fasta)

Gene Model

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

AlphaFold

Q8R4H2

Predicted Effect

probably damaging
Transcript: ENSMUST00000072767
AA Change: S303C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: S303C

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: S303C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: S303C

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,206,049 (GRCm39)	C21Y	probably damaging	Het
4933427D06Rik	T	C	6: 89,085,127 (GRCm39)		noncoding transcript	Het
5730480H06Rik	A	G	5: 48,536,783 (GRCm39)	I160V	probably benign	Het
Arhgap29	G	A	3: 121,767,698 (GRCm39)	E47K	probably damaging	Het
Bap1	A	G	14: 30,980,284 (GRCm39)	N644S	probably benign	Het
Cc2d1b	A	G	4: 108,489,091 (GRCm39)	E796G	probably damaging	Het
Cfh	C	A	1: 140,033,180 (GRCm39)	R788L	probably benign	Het
Cldn1	A	G	16: 26,179,623 (GRCm39)	F148S	probably damaging	Het
Cryzl1	A	G	16: 91,487,619 (GRCm39)	M292T	possibly damaging	Het
Cyp11b1	T	C	15: 74,708,408 (GRCm39)	R385G	possibly damaging	Het
Cyp4f37	T	C	17: 32,844,163 (GRCm39)	L89P	probably benign	Het
Dach1	A	G	14: 98,153,231 (GRCm39)		probably null	Het
Dhtkd1	A	G	2: 5,922,716 (GRCm39)	I481T	possibly damaging	Het
Dlx5	A	T	6: 6,881,755 (GRCm39)	D44E	probably damaging	Het
Dsg1a	T	A	18: 20,464,591 (GRCm39)	I362N	possibly damaging	Het
Ecm2	T	A	13: 49,671,952 (GRCm39)	I151N	probably damaging	Het
Far1	T	A	7: 113,139,855 (GRCm39)	I101N	probably damaging	Het
Gm21985	T	C	2: 112,172,207 (GRCm39)	S384P	probably benign	Het
Gnb5	T	C	9: 75,247,471 (GRCm39)	Y247H	probably damaging	Het
Golgb1	A	G	16: 36,736,572 (GRCm39)	K1940E	probably damaging	Het
Gprc5b	A	G	7: 118,583,017 (GRCm39)	V284A	probably benign	Het
Idh2	T	C	7: 79,748,661 (GRCm39)	Y179C	probably damaging	Het
Kalrn	G	A	16: 34,040,500 (GRCm39)	Q737*	probably null	Het
Kcnj13	T	C	1: 87,314,175 (GRCm39)	D349G	probably damaging	Het
Lgsn	A	T	1: 31,243,318 (GRCm39)	T467S	possibly damaging	Het
Map9	T	A	3: 82,270,819 (GRCm39)	S128T	possibly damaging	Het
Mroh5	A	G	15: 73,661,827 (GRCm39)	C455R	probably damaging	Het
Nes	A	G	3: 87,887,186 (GRCm39)	H1771R	probably benign	Het
Nkain2	T	C	10: 32,205,840 (GRCm39)	Y65C	probably damaging	Het
Or51a43	T	A	7: 103,718,056 (GRCm39)	M61L	probably damaging	Het
Or51b6b	A	T	7: 103,310,112 (GRCm39)	V115D	probably damaging	Het
Or6aa1	T	C	7: 86,043,798 (GRCm39)	K303E	possibly damaging	Het
Pabpc4l	A	C	3: 46,400,725 (GRCm39)	D306E	probably benign	Het
Parp12	A	T	6: 39,079,515 (GRCm39)	Y332N	probably damaging	Het
Parvb	A	T	15: 84,193,154 (GRCm39)	K316M	probably damaging	Het
Pde8a	T	A	7: 80,945,519 (GRCm39)		probably benign	Het
Polq	A	G	16: 36,833,471 (GRCm39)	T55A	probably benign	Het
Ppp2r5b	T	A	19: 6,281,016 (GRCm39)	K271M	probably damaging	Het
Ralgapb	A	G	2: 158,334,936 (GRCm39)		probably null	Het
Rigi	C	T	4: 40,229,661 (GRCm39)	C86Y	probably benign	Het
Skap2	T	C	6: 51,886,351 (GRCm39)	N175D	probably benign	Het
Slc44a3	A	G	3: 121,303,970 (GRCm39)		probably benign	Het
Smurf2	G	A	11: 106,736,873 (GRCm39)	H318Y	probably damaging	Het
Tbc1d23	T	C	16: 57,004,778 (GRCm39)	T460A	possibly damaging	Het
Tcerg1	T	C	18: 42,657,414 (GRCm39)	S299P	unknown	Het
Tll1	A	C	8: 64,658,319 (GRCm39)	Y33*	probably null	Het
Tmem59	A	T	4: 107,054,782 (GRCm39)	T196S	probably damaging	Het
Ttll4	C	A	1: 74,718,662 (GRCm39)	A171D	possibly damaging	Het
Ttn	T	C	2: 76,641,513 (GRCm39)	T13528A	possibly damaging	Het
Ttn	A	G	2: 76,717,621 (GRCm39)		probably benign	Het
Xpc	C	A	6: 91,477,119 (GRCm39)	G327W	probably damaging	Het
Zbtb7a	A	G	10: 80,980,132 (GRCm39)	S109G	probably benign	Het
Zfyve26	T	C	12: 79,285,794 (GRCm39)	M2328V	probably benign	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
IGL02498:Arhgef12	APN	9	42,893,339 (GRCm39)	missense	probably benign	0.19
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
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

2015-12-18