Mutagenetix > Incidental Mutation

Incidental Mutation 'R6751:Arhgef28'

530801

Institutional Source

Beutler Lab

Gene Symbol

Arhgef28

Ensembl Gene

ENSMUSG00000021662

Gene Name

Rho guanine nucleotide exchange factor 28

Synonyms

Rgnef, 9230110L08Rik, Rho specific exchange factor, RhoGEF, RIP2, D13Bwg1089e, p190RhoGEF

MMRRC Submission

044868-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98035977-98342947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98211755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 76 (S76L)

Ref Sequence

ENSEMBL: ENSMUSP00000153423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109426] [ENSMUST00000223849] [ENSMUST00000225884]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109426
AA Change: S76L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: S76L

Domain	Start	End	E-Value	Type
low complexity region	530	568	N/A	INTRINSIC
low complexity region	634	650	N/A	INTRINSIC
C1	652	698	1.65e-11	SMART
RhoGEF	850	1040	1.11e-65	SMART
PH	1084	1187	1.08e-9	SMART
low complexity region	1267	1281	N/A	INTRINSIC
coiled coil region	1469	1522	N/A	INTRINSIC
low complexity region	1647	1663	N/A	INTRINSIC
low complexity region	1682	1693	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223849
AA Change: S76L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225884
AA Change: S76L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

95% (59/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are born at lower than expected Mendelian ratios and exhibit a reduction in overall size that becomes negligible by 8 weeks of age. Mouse embryonic fibroblasts display defects in cell migration and focal adhesion formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,771,971 (GRCm39)	N387Y	probably damaging	Het
Abhd17a	T	C	10: 80,422,421 (GRCm39)	E87G	probably damaging	Het
Aco1	T	A	4: 40,188,330 (GRCm39)		probably null	Het
Adcy6	T	C	15: 98,494,086 (GRCm39)	N817S	probably benign	Het
Ak8	T	A	2: 28,599,957 (GRCm39)	L63*	probably null	Het
Asap1	A	G	15: 63,966,261 (GRCm39)	L891S	possibly damaging	Het
Cacng5	C	A	11: 107,768,379 (GRCm39)	M209I	probably benign	Het
Casr	T	C	16: 36,335,950 (GRCm39)	I120V	probably benign	Het
Ccnq	T	C	11: 78,641,950 (GRCm39)	Y180C	probably damaging	Het
Chd7	T	C	4: 8,833,866 (GRCm39)	Y1207H	probably damaging	Het
Chrnb2	A	T	3: 89,668,883 (GRCm39)	F144Y	probably damaging	Het
Cyp4a14	T	A	4: 115,348,391 (GRCm39)	H362L	probably damaging	Het
Dnaaf4	A	G	9: 72,869,257 (GRCm39)	T156A	probably benign	Het
Dym	G	A	18: 75,419,718 (GRCm39)	V630M	probably damaging	Het
Dync2i1	A	T	12: 116,177,076 (GRCm39)	V842E	possibly damaging	Het
Dyrk1b	C	A	7: 27,886,134 (GRCm39)	P619Q	probably damaging	Het
Eml5	T	C	12: 98,831,659 (GRCm39)	D433G	probably damaging	Het
Frem2	A	T	3: 53,561,086 (GRCm39)	S1140R	probably damaging	Het
Gabra5	T	C	7: 57,068,082 (GRCm39)	R255G	probably damaging	Het
Galnt17	T	A	5: 131,110,428 (GRCm39)	I304F	probably damaging	Het
Gpc5	A	G	14: 115,607,363 (GRCm39)	S322G	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,610,269 (GRCm39)	N1467Y	probably damaging	Het
Ifna6	T	C	4: 88,745,987 (GRCm39)	L112P	probably damaging	Het
Ifrd1	C	T	12: 40,253,913 (GRCm39)		probably null	Het
Il17f	A	G	1: 20,849,713 (GRCm39)	M17T	probably benign	Het
Itga11	G	A	9: 62,675,866 (GRCm39)	V892I	probably benign	Het
Nckap5l	A	G	15: 99,321,042 (GRCm39)	L1246P	probably damaging	Het
Nlrp4f	A	T	13: 65,342,243 (GRCm39)	H467Q	probably damaging	Het
Ntng2	A	G	2: 29,118,055 (GRCm39)	V131A	possibly damaging	Het
Or51r1	G	A	7: 102,227,706 (GRCm39)	M1I	probably null	Het
Or8b40	T	G	9: 38,027,271 (GRCm39)	Y60D	probably damaging	Het
Or8g37	T	A	9: 39,731,193 (GRCm39)	V86E	probably benign	Het
Or8g55	T	C	9: 39,784,976 (GRCm39)	V135A	probably benign	Het
Osbpl8	T	C	10: 111,110,874 (GRCm39)	Y459H	possibly damaging	Het
Pabpc1	A	T	15: 36,597,778 (GRCm39)	V537D	possibly damaging	Het
Pde4b	A	T	4: 102,459,868 (GRCm39)	M583L	probably damaging	Het
Phlda1	T	C	10: 111,342,555 (GRCm39)	V97A	possibly damaging	Het
Pik3cb	G	T	9: 98,976,574 (GRCm39)	H174Q	probably benign	Het
Plxdc2	A	T	2: 16,552,952 (GRCm39)	I117F	probably benign	Het
Psapl1	C	A	5: 36,362,303 (GRCm39)	C298*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Rtkn2	T	A	10: 67,877,283 (GRCm39)	F448I	probably benign	Het
Scn10a	T	C	9: 119,500,617 (GRCm39)	R221G	probably damaging	Het
Serpina3c	A	G	12: 104,117,759 (GRCm39)	L193P	probably damaging	Het
Sox12	T	C	2: 152,238,678 (GRCm39)	Y314C	probably damaging	Het
Spata31h1	A	G	10: 82,119,331 (GRCm39)	S4560P	probably benign	Het
Sptbn1	T	C	11: 30,067,859 (GRCm39)	E1772G	probably damaging	Het
Supt6	A	G	11: 78,099,775 (GRCm39)	V1570A	probably benign	Het
Synrg	T	C	11: 83,872,251 (GRCm39)	F125S	probably damaging	Het
Tenm4	A	T	7: 96,494,919 (GRCm39)	I1116F	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfap2d	C	A	1: 19,173,507 (GRCm39)	H10N	possibly damaging	Het
Trpm8	T	C	1: 88,312,428 (GRCm39)	I1103T	possibly damaging	Het
Vmn1r158	C	T	7: 22,489,306 (GRCm39)	C301Y	probably damaging	Het
Vmn2r56	T	C	7: 12,428,719 (GRCm39)	I516V	probably benign	Het
Vmn2r71	G	A	7: 85,269,095 (GRCm39)		probably null	Het
Vnn3	C	T	10: 23,745,523 (GRCm39)	R491C	probably benign	Het
Vps50	A	G	6: 3,600,274 (GRCm39)	Y911C	probably damaging	Het
Zfp772	C	T	7: 7,206,716 (GRCm39)	R325Q	possibly damaging	Het
Zranb3	T	A	1: 127,887,556 (GRCm39)	H957L	probably benign	Het
Zscan20	G	T	4: 128,479,668 (GRCm39)	T941K	probably damaging	Het
Zscan25	T	A	5: 145,227,373 (GRCm39)	F346I	probably damaging	Het

Other mutations in Arhgef28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Arhgef28	APN	13	98,124,785 (GRCm39)	missense	probably benign	0.15
IGL00945:Arhgef28	APN	13	98,103,907 (GRCm39)	missense	possibly damaging	0.88
IGL01099:Arhgef28	APN	13	98,090,480 (GRCm39)	splice site	probably benign
IGL01328:Arhgef28	APN	13	98,106,831 (GRCm39)	missense	probably damaging	1.00
IGL01396:Arhgef28	APN	13	98,090,401 (GRCm39)	missense	probably damaging	0.99
IGL02067:Arhgef28	APN	13	98,213,825 (GRCm39)	missense	probably damaging	1.00
IGL02147:Arhgef28	APN	13	98,097,822 (GRCm39)	missense	probably damaging	1.00
IGL02285:Arhgef28	APN	13	98,187,536 (GRCm39)	missense	possibly damaging	0.85
IGL02439:Arhgef28	APN	13	98,067,647 (GRCm39)	missense	possibly damaging	0.75
IGL02499:Arhgef28	APN	13	98,090,291 (GRCm39)	missense	possibly damaging	0.87
IGL02532:Arhgef28	APN	13	98,166,391 (GRCm39)	missense	probably damaging	0.99
IGL02634:Arhgef28	APN	13	98,187,566 (GRCm39)	missense	probably benign	0.00
IGL02902:Arhgef28	APN	13	98,083,383 (GRCm39)	missense	probably damaging	1.00
IGL03067:Arhgef28	APN	13	98,124,794 (GRCm39)	missense	probably benign	0.00
IGL03081:Arhgef28	APN	13	98,165,881 (GRCm39)	splice site	probably benign
IGL03106:Arhgef28	APN	13	98,094,301 (GRCm39)	missense	probably damaging	1.00
IGL03195:Arhgef28	APN	13	98,088,071 (GRCm39)	splice site	probably null
IGL03325:Arhgef28	APN	13	98,036,324 (GRCm39)	missense	probably benign	0.03
H8786:Arhgef28	UTSW	13	98,083,461 (GRCm39)	missense	probably damaging	1.00
R0027:Arhgef28	UTSW	13	98,082,204 (GRCm39)	missense	possibly damaging	0.94
R0027:Arhgef28	UTSW	13	98,082,204 (GRCm39)	missense	possibly damaging	0.94
R0062:Arhgef28	UTSW	13	98,093,150 (GRCm39)	missense	possibly damaging	0.56
R0062:Arhgef28	UTSW	13	98,093,150 (GRCm39)	missense	possibly damaging	0.56
R0090:Arhgef28	UTSW	13	98,211,618 (GRCm39)	missense	probably damaging	0.99
R0096:Arhgef28	UTSW	13	98,067,762 (GRCm39)	missense	probably damaging	1.00
R0096:Arhgef28	UTSW	13	98,067,762 (GRCm39)	missense	probably damaging	1.00
R0537:Arhgef28	UTSW	13	98,094,224 (GRCm39)	missense	probably damaging	1.00
R0617:Arhgef28	UTSW	13	98,106,863 (GRCm39)	missense	probably benign	0.21
R0711:Arhgef28	UTSW	13	98,067,762 (GRCm39)	missense	probably damaging	1.00
R0723:Arhgef28	UTSW	13	98,075,987 (GRCm39)	missense	probably benign	0.16
R0790:Arhgef28	UTSW	13	98,117,914 (GRCm39)	missense	possibly damaging	0.51
R1240:Arhgef28	UTSW	13	98,066,000 (GRCm39)	missense	probably benign	0.00
R1365:Arhgef28	UTSW	13	98,211,632 (GRCm39)	missense	probably damaging	1.00
R1456:Arhgef28	UTSW	13	98,211,510 (GRCm39)	missense	probably benign	0.01
R1490:Arhgef28	UTSW	13	98,114,952 (GRCm39)	missense	probably damaging	1.00
R1496:Arhgef28	UTSW	13	98,102,054 (GRCm39)	missense	possibly damaging	0.93
R1660:Arhgef28	UTSW	13	98,117,884 (GRCm39)	missense	probably benign	0.05
R1671:Arhgef28	UTSW	13	98,067,542 (GRCm39)	missense	possibly damaging	0.95
R1747:Arhgef28	UTSW	13	98,073,332 (GRCm39)	missense	probably damaging	1.00
R1792:Arhgef28	UTSW	13	98,067,694 (GRCm39)	missense	probably benign	0.03
R1864:Arhgef28	UTSW	13	98,130,640 (GRCm39)	missense	probably benign	0.00
R1887:Arhgef28	UTSW	13	98,282,081 (GRCm39)	missense	probably damaging	0.97
R1924:Arhgef28	UTSW	13	98,073,324 (GRCm39)	splice site	probably benign
R1987:Arhgef28	UTSW	13	98,103,604 (GRCm39)	missense	probably benign
R2215:Arhgef28	UTSW	13	98,187,529 (GRCm39)	missense	possibly damaging	0.78
R2342:Arhgef28	UTSW	13	98,130,537 (GRCm39)	missense	probably benign	0.00
R2495:Arhgef28	UTSW	13	98,165,881 (GRCm39)	splice site	probably benign
R3897:Arhgef28	UTSW	13	98,093,084 (GRCm39)	missense	probably damaging	1.00
R3922:Arhgef28	UTSW	13	98,130,452 (GRCm39)	missense	possibly damaging	0.92
R4063:Arhgef28	UTSW	13	98,130,575 (GRCm39)	missense	probably benign	0.16
R4086:Arhgef28	UTSW	13	98,103,712 (GRCm39)	missense	probably damaging	0.98
R4543:Arhgef28	UTSW	13	98,211,508 (GRCm39)	missense	probably benign	0.00
R4730:Arhgef28	UTSW	13	98,114,650 (GRCm39)	missense	probably benign	0.00
R4735:Arhgef28	UTSW	13	98,036,237 (GRCm39)	missense	probably damaging	1.00
R4953:Arhgef28	UTSW	13	98,066,062 (GRCm39)	missense	possibly damaging	0.51
R5069:Arhgef28	UTSW	13	98,211,714 (GRCm39)	missense	probably damaging	0.96
R5558:Arhgef28	UTSW	13	98,097,968 (GRCm39)	missense	probably damaging	1.00
R5573:Arhgef28	UTSW	13	98,065,999 (GRCm39)	missense	probably benign	0.01
R5594:Arhgef28	UTSW	13	98,076,000 (GRCm39)	missense	probably benign	0.00
R5937:Arhgef28	UTSW	13	98,076,051 (GRCm39)	missense	probably benign	0.00
R5987:Arhgef28	UTSW	13	98,073,368 (GRCm39)	nonsense	probably null
R6015:Arhgef28	UTSW	13	98,211,530 (GRCm39)	missense	possibly damaging	0.73
R6193:Arhgef28	UTSW	13	98,121,888 (GRCm39)	missense	probably damaging	1.00
R6209:Arhgef28	UTSW	13	98,065,917 (GRCm39)	critical splice donor site	probably null
R6306:Arhgef28	UTSW	13	98,121,896 (GRCm39)	missense	probably damaging	1.00
R6393:Arhgef28	UTSW	13	98,130,527 (GRCm39)	missense	possibly damaging	0.64
R6562:Arhgef28	UTSW	13	98,124,647 (GRCm39)	critical splice donor site	probably null
R6646:Arhgef28	UTSW	13	98,076,002 (GRCm39)	missense	probably benign	0.09
R6655:Arhgef28	UTSW	13	98,036,163 (GRCm39)	missense	probably damaging	1.00
R6707:Arhgef28	UTSW	13	98,211,624 (GRCm39)	missense	possibly damaging	0.80
R6707:Arhgef28	UTSW	13	98,073,224 (GRCm39)	missense	probably damaging	0.96
R6940:Arhgef28	UTSW	13	98,102,038 (GRCm39)	missense	possibly damaging	0.58
R7018:Arhgef28	UTSW	13	98,101,943 (GRCm39)	missense	probably damaging	1.00
R7030:Arhgef28	UTSW	13	98,124,769 (GRCm39)	missense	possibly damaging	0.88
R7120:Arhgef28	UTSW	13	98,081,047 (GRCm39)	missense	probably damaging	1.00
R7266:Arhgef28	UTSW	13	98,101,960 (GRCm39)	missense	probably benign
R7353:Arhgef28	UTSW	13	98,211,710 (GRCm39)	missense	probably damaging	1.00
R7368:Arhgef28	UTSW	13	98,133,370 (GRCm39)	missense	probably benign	0.34
R7491:Arhgef28	UTSW	13	98,081,194 (GRCm39)	missense	probably benign	0.03
R7500:Arhgef28	UTSW	13	98,115,003 (GRCm39)	missense	probably benign	0.00
R7653:Arhgef28	UTSW	13	98,105,821 (GRCm39)	missense	probably benign	0.04
R7813:Arhgef28	UTSW	13	98,082,189 (GRCm39)	missense	possibly damaging	0.48
R7989:Arhgef28	UTSW	13	98,036,243 (GRCm39)	missense	probably benign
R8064:Arhgef28	UTSW	13	98,115,002 (GRCm39)	missense	probably benign	0.13
R8221:Arhgef28	UTSW	13	98,282,064 (GRCm39)	missense	probably benign	0.00
R8293:Arhgef28	UTSW	13	98,079,029 (GRCm39)	missense	probably benign	0.00
R8328:Arhgef28	UTSW	13	98,187,517 (GRCm39)	missense	possibly damaging	0.88
R8348:Arhgef28	UTSW	13	98,190,375 (GRCm39)	missense	possibly damaging	0.50
R8432:Arhgef28	UTSW	13	98,088,091 (GRCm39)	missense	probably benign	0.29
R8843:Arhgef28	UTSW	13	98,130,557 (GRCm39)	missense	probably benign
R8859:Arhgef28	UTSW	13	98,082,210 (GRCm39)	missense	probably damaging	1.00
R8954:Arhgef28	UTSW	13	98,066,141 (GRCm39)	missense	probably benign	0.03
R8987:Arhgef28	UTSW	13	98,190,472 (GRCm39)	missense	possibly damaging	0.87
R9253:Arhgef28	UTSW	13	98,124,779 (GRCm39)	missense	probably benign	0.09
R9351:Arhgef28	UTSW	13	98,130,576 (GRCm39)	missense	probably benign	0.11
R9381:Arhgef28	UTSW	13	98,036,269 (GRCm39)	missense	possibly damaging	0.60
R9395:Arhgef28	UTSW	13	98,103,692 (GRCm39)	frame shift	probably null
R9466:Arhgef28	UTSW	13	98,124,825 (GRCm39)	missense
R9529:Arhgef28	UTSW	13	98,213,773 (GRCm39)	missense	probably damaging	1.00
R9641:Arhgef28	UTSW	13	98,078,983 (GRCm39)	missense	probably benign	0.00
R9662:Arhgef28	UTSW	13	98,065,969 (GRCm39)	missense	probably benign	0.20
R9744:Arhgef28	UTSW	13	98,094,261 (GRCm39)	missense	probably damaging	1.00
R9776:Arhgef28	UTSW	13	98,133,415 (GRCm39)	missense	probably benign	0.19
Z1088:Arhgef28	UTSW	13	98,082,199 (GRCm39)	missense	probably damaging	1.00
Z1177:Arhgef28	UTSW	13	98,036,264 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- ATTTCCCAGGACTGTCCAAC -3'
(R):5'- CCAGGGATGGTGGCATTTAAAG -3'

Sequencing Primer
(F):5'- AAAGGCAGCTCCAGTTGGGTC -3'
(R):5'- AGATTTAAAGATGGTGCTTGTTCCC -3'

Posted On

2018-08-01