Mutagenetix > Incidental Mutation

Incidental Mutation 'R6230:Arhgef12'

504622

Institutional Source

Beutler Lab

Gene Symbol

Arhgef12

Ensembl Gene

ENSMUSG00000059495

Gene Name

Rho guanine nucleotide exchange factor 12

Synonyms

2310014B11Rik, LARG

MMRRC Submission

044359-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R6230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42875138-43017069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42900261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 871 (I871V)

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: I870V

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

SMART Domains

Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: I870V

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: I871V

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

SMART Domains

Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: I871V

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

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.1%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	T	C	2: 168,024,452 (GRCm39)	T948A	probably benign	Het
Atf1	T	C	15: 100,130,705 (GRCm39)	V25A	possibly damaging	Het
Atp23	G	A	10: 126,723,431 (GRCm39)	H224Y	probably benign	Het
Ccpg1	A	G	9: 72,919,638 (GRCm39)	T418A	probably benign	Het
Col27a1	T	C	4: 63,142,519 (GRCm39)	I69T	probably damaging	Het
Cspp1	T	C	1: 10,147,422 (GRCm39)	S328P	probably benign	Het
Cttnbp2nl	C	T	3: 104,918,655 (GRCm39)	E62K	probably damaging	Het
Cyp2c39	T	C	19: 39,525,246 (GRCm39)	F183S	probably damaging	Het
Dync2li1	T	C	17: 84,955,078 (GRCm39)	S246P	probably damaging	Het
Ext2	A	G	2: 93,592,965 (GRCm39)	I413T	probably damaging	Het
Fam174a	T	C	1: 95,241,951 (GRCm39)	V137A	probably damaging	Het
Flg	T	A	3: 93,186,782 (GRCm39)	V78E	probably damaging	Het
Fn3krp	C	A	11: 121,316,418 (GRCm39)	H111N	probably damaging	Het
Focad	T	C	4: 88,260,441 (GRCm39)	I899T	unknown	Het
Foxq1	T	C	13: 31,743,491 (GRCm39)	Y198H	probably damaging	Het
Gm21060	A	T	19: 61,285,449 (GRCm39)	M20K	probably benign	Het
Kif16b	A	T	2: 142,691,832 (GRCm39)	N217K	probably damaging	Het
Klkb1	A	G	8: 45,736,252 (GRCm39)	Y162H	probably benign	Het
Kntc1	T	A	5: 123,927,072 (GRCm39)		probably null	Het
Madd	C	T	2: 90,973,866 (GRCm39)		probably null	Het
Mast2	T	A	4: 116,183,295 (GRCm39)	H258L	probably damaging	Het
Musk	T	C	4: 58,367,576 (GRCm39)	V598A	probably damaging	Het
Nexn	T	A	3: 151,943,912 (GRCm39)	Q539L	probably damaging	Het
Nf2	T	C	11: 4,758,262 (GRCm39)	K130E	possibly damaging	Het
Nlrp14	A	T	7: 106,781,024 (GRCm39)	I74F	probably benign	Het
Omg	T	C	11: 79,393,784 (GRCm39)	I25V	probably benign	Het
Or56b35	A	G	7: 104,963,289 (GRCm39)	H26R	possibly damaging	Het
Or8b54	T	G	9: 38,687,073 (GRCm39)	I174S	possibly damaging	Het
Parp4	A	G	14: 56,844,990 (GRCm39)	D627G	probably damaging	Het
Pdia6	A	G	12: 17,327,214 (GRCm39)	E126G	probably benign	Het
Ppp1r2	T	A	16: 31,079,418 (GRCm39)	D127V	possibly damaging	Het
Pramel17	T	A	4: 101,694,411 (GRCm39)	E157D	probably damaging	Het
Rgs22	A	G	15: 36,100,176 (GRCm39)	S304P	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Ryr2	T	C	13: 11,674,993 (GRCm39)	Y3378C	probably damaging	Het
Shoc1	T	C	4: 59,099,345 (GRCm39)	N116D	probably benign	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Smurf2	T	C	11: 106,759,330 (GRCm39)		probably null	Het
Tanc1	T	C	2: 59,672,375 (GRCm39)	F1348L	probably damaging	Het
Tars3	A	T	7: 65,336,184 (GRCm39)		probably null	Het
Tmem213	A	T	6: 38,091,551 (GRCm39)	S52C	probably damaging	Het
Ttn	T	C	2: 76,749,778 (GRCm39)	D3757G	probably benign	Het
Usp16	C	T	16: 87,261,686 (GRCm39)	P101S	possibly damaging	Het
Usp19	G	A	9: 108,379,140 (GRCm39)	M1318I	probably damaging	Het
Vmn1r75	G	A	7: 11,614,966 (GRCm39)	A233T	probably damaging	Het
Vsir	A	T	10: 60,193,857 (GRCm39)	N107Y	probably damaging	Het
Zfp160	T	C	17: 21,246,707 (GRCm39)	V419A	probably benign	Het
Zfp808	A	T	13: 62,320,136 (GRCm39)	H455L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGAGCACTGAGTCTGATTGC -3'
(R):5'- AAGAGCTTTGGGGATCTAGCTG -3'

Sequencing Primer
(F):5'- AGCACTGAGTCTGATTGCATACTG -3'
(R):5'- CTCCCTTAGTTGGGTTGA -3'

Posted On

2018-02-28