Mutagenetix > Incidental Mutation

Incidental Mutation 'RF023:Arhgef5'

603987

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor (GEF) 5

Synonyms

2210412D05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF023 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43265582-43289320 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43279473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1172 (S1172T)

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031750]

AlphaFold

E9Q7D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000031750
AA Change: S1172T

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

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: S1172T

Domain	Start	End	E-Value	Type
Pfam:ARHGEF5_35	1	477	3.1e-220	PFAM
low complexity region	509	531	N/A	INTRINSIC
low complexity region	812	825	N/A	INTRINSIC
low complexity region	827	851	N/A	INTRINSIC
RhoGEF	1162	1341	2.97e-57	SMART
PH	1375	1488	1.11e-6	SMART
SH3	1497	1554	6.39e-15	SMART

Predicted Effect

Meta Mutation Damage Score

0.1576

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

96% (24/25)

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 initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased Th2 response in an ovalbumin-induced asthma model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	TTATTATTATTATTAG	3: 37,050,760 (GRCm38)		probably benign	Het
5430401F13Rik	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,855 (GRCm38)		probably benign	Het
5430401F13Rik	AAAAACAGAAAGGAAAAGGTGGCCAG	AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,878 (GRCm38)		probably benign	Het
A030005L19Rik	TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG	TGGCTGTGGCTGTGG	1: 82,913,396 (GRCm38)		probably benign	Het
Amot	GCAACAGCAAC	GC	X: 145,451,003 (GRCm38)		probably benign	Het
Anks1b	G	A	10: 90,033,225 (GRCm38)	G49D	probably damaging	Het
Cacna2d4	G	A	6: 119,268,230 (GRCm38)	V300I	probably benign	Het
Calhm1	GTGGC	GTGGCTGTGGCTTTGGC	19: 47,141,273 (GRCm38)		probably benign	Het
Camk2b	T	C	11: 5,972,301 (GRCm38)	T516A	probably damaging	Het
Ccdc170	CCA	CCAACA	10: 4,561,018 (GRCm38)		probably benign	Het
Cdhr3	G	T	12: 33,060,349 (GRCm38)	S312Y	probably damaging	Het
Cdk1	C	T	10: 69,340,498 (GRCm38)	G260S	possibly damaging	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,554,979 (GRCm38)		probably benign	Het
Cenpp	A	T	13: 49,650,144 (GRCm38)	V88E	probably benign	Het
Cfap46	TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC	TCTTCTCCTTCTCCTTCTCC	7: 139,638,918 (GRCm38)			Het
Dnah11	T	A	12: 117,954,850 (GRCm38)	R3449W	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131 (GRCm38)		probably null	Het
E4f1	AGGC	AGGCGGC	17: 24,455,183 (GRCm38)		probably benign	Het
Efhd2	CCGCCG	CCGCCGGCGCCG	4: 141,874,762 (GRCm38)		probably benign	Het
Entpd2	CTT	CTTT	2: 25,400,895 (GRCm38)		probably null	Het
Ephx2	A	G	14: 66,084,929 (GRCm38)		probably null	Het
Exd2	GCAGCAGCCGCAGCCACAGC	GCAGC	12: 80,475,915 (GRCm38)		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 72,270,054 (GRCm38)		probably benign	Het
H13	G	A	2: 152,669,669 (GRCm38)	E30K	probably damaging	Het
Herc1	G	C	9: 66,458,334 (GRCm38)	G324R		Het
Hsdl2	CAGCCACAGCTGCAG	CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG	4: 59,610,644 (GRCm38)		probably benign	Het
Il2	GCTTGAAG	GCTTGAAGCGGGCCTTGAAG	3: 37,125,820 (GRCm38)		probably benign	Het
Krtap28-10	ACAGC	ACAGCCACGGCCACCGCAGC	1: 83,042,286 (GRCm38)		probably benign	Het
Krtap28-10	CAG	CAGCCCTAG	1: 83,042,146 (GRCm38)		probably null	Het
Krtap4-9	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	11: 99,785,391 (GRCm38)		probably benign	Het
Lce1m	TGCTGCC	TGCTGCCCCCGCCGCTGCC	3: 93,018,280 (GRCm38)		probably benign	Het
Lrch1	TGGTGGTG	T	14: 74,947,566 (GRCm38)		probably null	Het
Mgam	C	T	6: 40,680,708 (GRCm38)	T999I	probably benign	Het
Mkl1	T	C	15: 81,015,856 (GRCm38)	E740G	probably damaging	Het
Nek1	A	G	8: 61,072,745 (GRCm38)		probably null	Het
Phactr2	T	A	10: 13,245,434 (GRCm38)	Q503H	probably benign	Het
Ptprd	T	C	4: 76,128,565 (GRCm38)	Y241C	probably damaging	Het
Rad51ap2	T	G	12: 11,458,075 (GRCm38)	V666G	possibly damaging	Het
Reep1	CC	CCCGAC	6: 71,707,968 (GRCm38)		probably null	Het
Rfx4	CTCTCTCTCT	CTCTCTCTCTCTCTCTCTGTCTCTCTCT	10: 84,858,485 (GRCm38)		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,759,143 (GRCm38)		probably null	Het
Rnpc3	A	T	3: 113,620,074 (GRCm38)	S240T	probably damaging	Het
Rtbdn	GCAGCG	GCAGCGTCAGCG	8: 84,956,166 (GRCm38)		probably benign	Het
Sec31b	G	T	19: 44,535,787 (GRCm38)	A138D	probably damaging	Het
Syne1	A	T	10: 5,255,482 (GRCm38)	W3495R	probably damaging	Het
Tgoln1	CC	CCCGTGGGCTTGCCAGAATTACCTTC	6: 72,616,080 (GRCm38)		probably benign	Het
Tmtc3	T	C	10: 100,477,866 (GRCm38)	H48R	probably benign	Het
Trappc9	T	TGCTGCTGCTGCTGCC	15: 72,801,331 (GRCm38)		probably benign	Het
Trappc9	CTGCTGCT	CTGCTGCTGCTGCTGATGCTGCT	15: 72,801,324 (GRCm38)		probably benign	Het
Vsig2	T	A	9: 37,539,263 (GRCm38)		probably null	Het
Wnk2	T	C	13: 49,146,779 (GRCm38)	T152A	probably benign	Het

Other mutations in Arhgef5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Arhgef5	APN	6	43,280,269 (GRCm38)	nonsense	probably null
IGL01341:Arhgef5	APN	6	43,283,991 (GRCm38)	missense	probably damaging	1.00
IGL01576:Arhgef5	APN	6	43,274,028 (GRCm38)	missense	probably benign	0.38
IGL01761:Arhgef5	APN	6	43,274,604 (GRCm38)	missense	probably benign	0.00
IGL02104:Arhgef5	APN	6	43,272,411 (GRCm38)	missense	probably damaging	0.99
IGL02208:Arhgef5	APN	6	43,275,130 (GRCm38)	missense	probably benign	0.11
IGL02487:Arhgef5	APN	6	43,283,982 (GRCm38)	missense	probably damaging	1.00
IGL02650:Arhgef5	APN	6	43,272,935 (GRCm38)	nonsense	probably null
IGL03292:Arhgef5	APN	6	43,280,246 (GRCm38)	missense	probably damaging	1.00
IGL03334:Arhgef5	APN	6	43,274,000 (GRCm38)	missense	possibly damaging	0.47
IGL03341:Arhgef5	APN	6	43,280,651 (GRCm38)	missense	probably damaging	0.99
R0047:Arhgef5	UTSW	6	43,265,621 (GRCm38)	splice site	probably null
R0206:Arhgef5	UTSW	6	43,273,341 (GRCm38)	missense	probably damaging	1.00
R0208:Arhgef5	UTSW	6	43,273,341 (GRCm38)	missense	probably damaging	1.00
R0698:Arhgef5	UTSW	6	43,273,341 (GRCm38)	missense	probably damaging	1.00
R1145:Arhgef5	UTSW	6	43,273,088 (GRCm38)	missense	possibly damaging	0.92
R1145:Arhgef5	UTSW	6	43,273,088 (GRCm38)	missense	possibly damaging	0.92
R1168:Arhgef5	UTSW	6	43,273,396 (GRCm38)	missense	probably benign	0.00
R1355:Arhgef5	UTSW	6	43,283,912 (GRCm38)	missense	probably damaging	1.00
R1370:Arhgef5	UTSW	6	43,283,912 (GRCm38)	missense	probably damaging	1.00
R1481:Arhgef5	UTSW	6	43,274,634 (GRCm38)	missense	probably damaging	0.99
R1529:Arhgef5	UTSW	6	43,279,515 (GRCm38)	missense	probably damaging	0.96
R1532:Arhgef5	UTSW	6	43,273,403 (GRCm38)	missense	probably benign
R1663:Arhgef5	UTSW	6	43,276,965 (GRCm38)	missense	probably damaging	1.00
R1742:Arhgef5	UTSW	6	43,280,199 (GRCm38)	missense	probably damaging	1.00
R1852:Arhgef5	UTSW	6	43,275,185 (GRCm38)	missense	probably benign	0.00
R1869:Arhgef5	UTSW	6	43,288,682 (GRCm38)	missense	probably damaging	1.00
R1880:Arhgef5	UTSW	6	43,273,088 (GRCm38)	missense	possibly damaging	0.92
R2146:Arhgef5	UTSW	6	43,283,318 (GRCm38)	missense	probably damaging	1.00
R2169:Arhgef5	UTSW	6	43,274,420 (GRCm38)	missense	probably benign	0.11
R3412:Arhgef5	UTSW	6	43,273,790 (GRCm38)	missense	probably benign
R4205:Arhgef5	UTSW	6	43,273,832 (GRCm38)	missense	possibly damaging	0.76
R4226:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4227:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4304:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4308:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4457:Arhgef5	UTSW	6	43,274,093 (GRCm38)	missense	probably damaging	1.00
R4469:Arhgef5	UTSW	6	43,275,099 (GRCm38)	missense	probably benign
R4636:Arhgef5	UTSW	6	43,274,942 (GRCm38)	missense	probably benign	0.11
R4791:Arhgef5	UTSW	6	43,283,183 (GRCm38)	missense	probably damaging	1.00
R4818:Arhgef5	UTSW	6	43,273,550 (GRCm38)	missense	probably benign	0.00
R4910:Arhgef5	UTSW	6	43,272,828 (GRCm38)	missense	probably benign	0.01
R4911:Arhgef5	UTSW	6	43,272,828 (GRCm38)	missense	probably benign	0.01
R5127:Arhgef5	UTSW	6	43,273,214 (GRCm38)	missense	probably damaging	0.99
R5209:Arhgef5	UTSW	6	43,273,700 (GRCm38)	missense	probably benign	0.01
R5245:Arhgef5	UTSW	6	43,265,680 (GRCm38)	start gained	probably benign
R5251:Arhgef5	UTSW	6	43,272,881 (GRCm38)	missense	possibly damaging	0.76
R5513:Arhgef5	UTSW	6	43,272,339 (GRCm38)	missense	probably damaging	0.96
R5613:Arhgef5	UTSW	6	43,274,063 (GRCm38)	missense	probably benign	0.01
R5616:Arhgef5	UTSW	6	43,275,940 (GRCm38)	missense	probably benign	0.20
R5817:Arhgef5	UTSW	6	43,275,104 (GRCm38)	missense	probably benign	0.15
R6024:Arhgef5	UTSW	6	43,275,134 (GRCm38)	missense	probably benign	0.00
R6735:Arhgef5	UTSW	6	43,275,032 (GRCm38)	missense	probably benign	0.01
R6825:Arhgef5	UTSW	6	43,274,961 (GRCm38)	missense	probably damaging	0.99
R6831:Arhgef5	UTSW	6	43,280,999 (GRCm38)	missense	probably damaging	1.00
R6901:Arhgef5	UTSW	6	43,273,298 (GRCm38)	missense	probably benign	0.00
R6932:Arhgef5	UTSW	6	43,274,417 (GRCm38)	missense	possibly damaging	0.94
R6968:Arhgef5	UTSW	6	43,275,342 (GRCm38)	missense	probably benign	0.00
R7018:Arhgef5	UTSW	6	43,288,731 (GRCm38)	missense	probably damaging	1.00
R7180:Arhgef5	UTSW	6	43,275,208 (GRCm38)	missense	possibly damaging	0.87
R7201:Arhgef5	UTSW	6	43,273,232 (GRCm38)	nonsense	probably null
R7358:Arhgef5	UTSW	6	43,279,573 (GRCm38)	missense	probably damaging	1.00
R7359:Arhgef5	UTSW	6	43,280,282 (GRCm38)	missense	probably damaging	1.00
R7468:Arhgef5	UTSW	6	43,280,671 (GRCm38)	nonsense	probably null
R7503:Arhgef5	UTSW	6	43,273,999 (GRCm38)	missense	probably benign	0.15
R7699:Arhgef5	UTSW	6	43,274,757 (GRCm38)	missense	probably benign	0.11
R7700:Arhgef5	UTSW	6	43,274,757 (GRCm38)	missense	probably benign	0.11
R7737:Arhgef5	UTSW	6	43,273,794 (GRCm38)	missense	possibly damaging	0.84
R7847:Arhgef5	UTSW	6	43,275,135 (GRCm38)	nonsense	probably null
R7950:Arhgef5	UTSW	6	43,273,925 (GRCm38)	missense	possibly damaging	0.76
R8161:Arhgef5	UTSW	6	43,283,951 (GRCm38)	missense	probably damaging	1.00
R8178:Arhgef5	UTSW	6	43,275,185 (GRCm38)	missense	probably benign	0.00
R8203:Arhgef5	UTSW	6	43,280,645 (GRCm38)	missense	probably damaging	1.00
R8318:Arhgef5	UTSW	6	43,275,999 (GRCm38)	critical splice donor site	probably null
R8857:Arhgef5	UTSW	6	43,287,624 (GRCm38)	missense	probably damaging	1.00
R9499:Arhgef5	UTSW	6	43,284,006 (GRCm38)	missense
R9610:Arhgef5	UTSW	6	43,280,956 (GRCm38)	missense	probably damaging	0.99
R9611:Arhgef5	UTSW	6	43,280,956 (GRCm38)	missense	probably damaging	0.99
R9623:Arhgef5	UTSW	6	43,274,802 (GRCm38)	missense	possibly damaging	0.86
R9685:Arhgef5	UTSW	6	43,273,593 (GRCm38)	missense	probably benign	0.11
X0028:Arhgef5	UTSW	6	43,273,701 (GRCm38)	missense	probably benign	0.03
X0065:Arhgef5	UTSW	6	43,272,408 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCCCTAAGTTGACTCTGGCATAC -3'
(R):5'- ATCTCAATGGCTAAGCACAGC -3'

Sequencing Primer
(F):5'- GGCATACTCAAATACTCCTTGTG -3'
(R):5'- TGGCTAAGCACAGCAAGGTTG -3'

Posted On

2019-12-04