Mutagenetix > Incidental Mutation

Incidental Mutation 'R1147:Arhgef12'

165170

Institutional Source

Beutler Lab

Gene Symbol

Arhgef12

Ensembl Gene

ENSMUSG00000059495

Gene Name

Rho guanine nucleotide exchange factor 12

Synonyms

2310014B11Rik, LARG

MMRRC Submission

039220-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R1147 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42875138-43017069 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 42955552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8R4H2

Predicted Effect

probably benign
Transcript: ENSMUST00000072767

SMART Domains

Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495

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

SMART Domains

Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215898

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.0%
20x: 91.6%

Validation Efficiency

98% (47/48)

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
Adam20	T	C	8: 41,248,655 (GRCm39)	I255T	possibly damaging	Het
Aknad1	T	A	3: 108,659,857 (GRCm39)	N290K	possibly damaging	Het
Ano8	C	A	8: 71,934,661 (GRCm39)	V447F	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ash1l	A	T	3: 88,892,194 (GRCm39)	M1358L	possibly damaging	Het
Ccdc110	A	G	8: 46,397,121 (GRCm39)	K837E	possibly damaging	Het
Cd19	T	A	7: 126,010,217 (GRCm39)	D384V	possibly damaging	Het
Ces1f	C	T	8: 93,984,909 (GRCm39)	V473I	possibly damaging	Het
Chd6	C	T	2: 160,832,191 (GRCm39)	E994K	probably damaging	Het
Col5a2	G	T	1: 45,415,931 (GRCm39)	N1405K	probably damaging	Het
Dnah7b	A	G	1: 46,379,426 (GRCm39)	D3720G	probably damaging	Het
Dsel	T	C	1: 111,789,939 (GRCm39)	T199A	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Flacc1	A	T	1: 58,708,622 (GRCm39)	Y215N	probably damaging	Het
Hrg	G	T	16: 22,779,754 (GRCm39)	C344F	probably damaging	Het
Htt	T	C	5: 35,008,596 (GRCm39)	Y1462H	probably damaging	Het
Kcnh2	T	A	5: 24,529,385 (GRCm39)	I784F	probably damaging	Het
Kifc3	T	C	8: 95,864,546 (GRCm39)	T55A	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lsamp	G	A	16: 41,994,499 (GRCm39)		probably benign	Het
Meis3	G	A	7: 15,917,701 (GRCm39)		probably benign	Het
Nlrp4d	A	T	7: 10,122,644 (GRCm39)	N73K	probably benign	Het
Oog3	A	G	4: 143,884,982 (GRCm39)	F318S	possibly damaging	Het
Or2a20	A	T	6: 43,194,146 (GRCm39)	T100S	probably damaging	Het
Or52w1	G	A	7: 105,018,484 (GRCm39)	R308Q	probably benign	Het
Pde5a	C	T	3: 122,587,962 (GRCm39)	T376M	probably damaging	Het
Pkhd1l1	A	G	15: 44,400,837 (GRCm39)	I2204V	probably null	Het
Ppp1r13l	A	G	7: 19,109,772 (GRCm39)	D731G	probably damaging	Het
Prob1	G	A	18: 35,787,859 (GRCm39)	Q132*	probably null	Het
Ptk6	C	T	2: 180,837,590 (GRCm39)	G443D	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,730,504 (GRCm39)	D749G	probably damaging	Het
Ralgapa1	A	T	12: 55,749,265 (GRCm39)	D1212E	probably damaging	Het
Rsad1	T	C	11: 94,434,966 (GRCm39)	Y290C	probably damaging	Het
Scamp1	A	G	13: 94,361,394 (GRCm39)		probably null	Het
Slc6a11	T	A	6: 114,221,831 (GRCm39)	I507N	possibly damaging	Het
Stx18	T	G	5: 38,284,267 (GRCm39)		probably benign	Het
Sybu	A	T	15: 44,609,651 (GRCm39)	F78I	probably damaging	Het
Tecpr2	T	G	12: 110,907,872 (GRCm39)		probably benign	Het
Tox	A	T	4: 6,823,055 (GRCm39)	N87K	possibly damaging	Het
Trrap	G	A	5: 144,741,576 (GRCm39)	G1308R	probably damaging	Het
Trub2	A	G	2: 29,677,644 (GRCm39)		probably benign	Het
Vmn2r114	A	T	17: 23,530,037 (GRCm39)	H123Q	probably benign	Het
Vmn2r15	T	A	5: 109,441,072 (GRCm39)	Y262F	probably damaging	Het
Vmn2r33	C	T	7: 7,557,144 (GRCm39)	E519K	probably benign	Het
Zfat	A	T	15: 68,084,432 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,351,017 (GRCm39)	C1545S	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTCATTTAAAGGTGACAGCAGGCAG -3'
(R):5'- AGAGCAAGACCTCTGACCCCATTG -3'

Sequencing Primer
(F):5'- TCAAAACAAGGCTGTGTTCCAG -3'
(R):5'- GACCTCTGACCCCATTGTTGTC -3'

Posted On

2014-03-28