Mutagenetix > Incidental Mutation

Incidental Mutation 'R1419:Arhgef12'

159994

Institutional Source

Beutler Lab

Gene Symbol

Arhgef12

Ensembl Gene

ENSMUSG00000059495

Gene Name

Rho guanine nucleotide exchange factor 12

Synonyms

2310014B11Rik, LARG

MMRRC Submission

039475-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R1419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42875138-43017069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42938516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 92 (V92D)

Ref Sequence

ENSEMBL: ENSMUSP00000126598 (fasta)

Gene Model

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

AlphaFold

Q8R4H2

Predicted Effect

probably damaging
Transcript: ENSMUST00000072767
AA Change: V92D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072547
Gene: ENSMUSG00000059495
AA Change: V92D

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 damaging
Transcript: ENSMUST00000165665
AA Change: V92D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126598
Gene: ENSMUSG00000059495
AA Change: V92D

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

unknown
Transcript: ENSMUST00000213566
AA Change: V39D

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217502

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,974,125 (GRCm39)	M894K	probably benign	Het
Ablim1	C	A	19: 57,123,065 (GRCm39)	C173F	probably damaging	Het
Abtb2	G	T	2: 103,539,765 (GRCm39)	R710L	probably benign	Het
Arap3	T	C	18: 38,111,485 (GRCm39)	T1144A	possibly damaging	Het
Ash1l	T	G	3: 88,892,204 (GRCm39)	M1361R	probably damaging	Het
Atm	A	C	9: 53,368,789 (GRCm39)	N2337K	probably benign	Het
Cog7	T	C	7: 121,555,215 (GRCm39)	E316G	probably damaging	Het
Dsp	A	G	13: 38,370,671 (GRCm39)	Y858C	probably damaging	Het
Enc1	G	T	13: 97,382,692 (GRCm39)	G401C	probably damaging	Het
Gata6	T	C	18: 11,064,706 (GRCm39)	V506A	probably benign	Het
Gm16380	C	T	9: 53,791,471 (GRCm39)		noncoding transcript	Het
Hsd17b8	G	A	17: 34,246,617 (GRCm39)	R89C	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ift80	T	A	3: 68,847,531 (GRCm39)	N322Y	probably damaging	Het
Igsf9	T	A	1: 172,325,578 (GRCm39)	V1082E	probably damaging	Het
Katnal2	A	T	18: 77,065,128 (GRCm39)	L481Q	possibly damaging	Het
Kcnma1	T	C	14: 23,417,710 (GRCm39)	T713A	probably damaging	Het
Kif13a	T	C	13: 46,978,711 (GRCm39)	T230A	probably damaging	Het
Klhl14	C	A	18: 21,785,250 (GRCm39)	R59L	probably damaging	Het
Mecom	A	G	3: 30,035,038 (GRCm39)	C213R	probably damaging	Het
Mrpl13	T	A	15: 55,397,717 (GRCm39)	M178L	probably benign	Het
Myof	T	C	19: 37,890,359 (GRCm39)	E1971G	probably damaging	Het
Naa10	A	G	X: 72,961,522 (GRCm39)	V133A	probably damaging	Het
Nlrp4g	G	A	9: 124,349,434 (GRCm38)		noncoding transcript	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Oplah	T	C	15: 76,182,120 (GRCm39)	I1047V	probably benign	Het
Or4a15	T	C	2: 89,193,666 (GRCm39)	T36A	probably damaging	Het
Or4k47	A	T	2: 111,451,640 (GRCm39)	F260I	probably benign	Het
Or5al1	A	G	2: 85,989,773 (GRCm39)	*314Q	probably null	Het
Paip1	A	G	13: 119,593,553 (GRCm39)	D189G	probably damaging	Het
Pkn1	A	G	8: 84,400,151 (GRCm39)	F624L	probably damaging	Het
Plxnb1	C	A	9: 108,943,454 (GRCm39)	P1899H	probably damaging	Het
Rpa3	T	A	6: 8,257,720 (GRCm39)	E47D	probably benign	Het
Shoc1	T	C	4: 59,064,457 (GRCm39)	T826A	possibly damaging	Het
Snai2	C	T	16: 14,526,044 (GRCm39)	H232Y	possibly damaging	Het
Spint5	T	C	2: 164,557,331 (GRCm39)	S23P	possibly damaging	Het
St8sia2	G	A	7: 73,616,742 (GRCm39)	Q78*	probably null	Het
Tktl2	A	G	8: 66,965,690 (GRCm39)	N416S	probably damaging	Het
Tm7sf3	T	A	6: 146,505,475 (GRCm39)	I494F	possibly damaging	Het
Trf	C	T	9: 103,103,307 (GRCm39)	V119M	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
R1147:Arhgef12	UTSW	9	42,955,552 (GRCm39)	unclassified	probably benign
R1395:Arhgef12	UTSW	9	42,917,166 (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'- CAAGGGTCCACATCATGCAGTCTG -3'
(R):5'- TCTACTCTGCTCCATGAGACACTGG -3'

Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- ATGGAACTAGTGTTCATAGGGGC -3'

Posted On

2014-03-14