Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01328:Arhgef28'

74366

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01328

Quality Score

Status

Chromosome

Chromosomal Location

98035977-98342947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98106831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 698 (C698S)

Ref Sequence

ENSEMBL: ENSMUSP00000153423 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000109426
AA Change: C698S

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

SMART Domains

Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: C698S

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

noncoding transcript
Transcript: ENSMUST00000225663

Predicted Effect

probably damaging
Transcript: ENSMUST00000225884
AA Change: C698S

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	C	T	18: 59,181,954 (GRCm39)	S1131F	possibly damaging	Het
Alg14	G	A	3: 121,155,232 (GRCm39)	V151I	probably benign	Het
Ano5	G	A	7: 51,206,019 (GRCm39)		probably null	Het
Cacnb4	T	C	2: 52,354,637 (GRCm39)	H247R	probably damaging	Het
Clec12b	A	T	6: 129,356,517 (GRCm39)	W216R	probably damaging	Het
Clnk	C	T	5: 38,941,871 (GRCm39)	S35N	possibly damaging	Het
Cnot4	T	A	6: 35,055,049 (GRCm39)	N80I	probably damaging	Het
Cntn5	C	T	9: 9,781,773 (GRCm39)	M635I	probably damaging	Het
Dlg5	A	G	14: 24,252,419 (GRCm39)	V107A	probably damaging	Het
Dsc2	A	T	18: 20,181,343 (GRCm39)	F155I	probably damaging	Het
Dtwd1	A	G	2: 126,006,739 (GRCm39)	I254V	probably damaging	Het
Dzip3	A	T	16: 48,792,621 (GRCm39)	D221E	probably damaging	Het
F13b	T	A	1: 139,435,820 (GRCm39)		probably benign	Het
Fam131b	G	A	6: 42,295,206 (GRCm39)	L324F	probably damaging	Het
Fam83a	A	T	15: 57,849,901 (GRCm39)	R148S	probably damaging	Het
Farsb	T	C	1: 78,447,729 (GRCm39)	I236V	probably benign	Het
Fat4	T	A	3: 39,034,807 (GRCm39)	F2820I	probably damaging	Het
Fat4	T	A	3: 38,944,140 (GRCm39)	V1011E	probably damaging	Het
Fgf7	A	G	2: 125,930,164 (GRCm39)	E99G	probably damaging	Het
Fign	T	C	2: 63,809,216 (GRCm39)	T685A	probably damaging	Het
Fubp1	G	A	3: 151,925,855 (GRCm39)	G289E	probably damaging	Het
Gata6	G	T	18: 11,064,530 (GRCm39)	M477I	probably damaging	Het
Gm14496	A	G	2: 181,637,673 (GRCm39)	Y249C	probably damaging	Het
Hectd1	T	C	12: 51,807,904 (GRCm39)	D1768G	probably damaging	Het
Htatip2	T	A	7: 49,420,697 (GRCm39)		probably null	Het
Irs2	C	A	8: 11,054,792 (GRCm39)	Q1213H	probably damaging	Het
Jak3	C	T	8: 72,132,264 (GRCm39)	R210C	probably damaging	Het
Klk1b27	T	C	7: 43,705,303 (GRCm39)	S157P	probably damaging	Het
Klri1	T	C	6: 129,675,800 (GRCm39)	S157G	probably damaging	Het
Mtmr2	G	T	9: 13,713,223 (GRCm39)	G395*	probably null	Het
Mx1	T	A	16: 97,256,832 (GRCm39)	I116F	probably damaging	Het
Oip5	A	C	2: 119,442,314 (GRCm39)	M200R	possibly damaging	Het
Or10ag56	T	A	2: 87,139,925 (GRCm39)	L284Q	possibly damaging	Het
Or10g3	T	C	14: 52,609,967 (GRCm39)	D181G	probably damaging	Het
Or4b1d	T	C	2: 89,969,418 (GRCm39)	K22E	probably benign	Het
Or4k39	A	G	2: 111,239,564 (GRCm39)	Y268C	probably damaging	Het
Pamr1	T	A	2: 102,472,482 (GRCm39)	S594T	probably benign	Het
Phf13	C	T	4: 152,080,285 (GRCm39)	E13K	probably benign	Het
Plekha6	A	T	1: 133,200,074 (GRCm39)		probably null	Het
Rad17	A	C	13: 100,754,311 (GRCm39)	N636K	probably benign	Het
Rad21	T	A	15: 51,836,520 (GRCm39)	D217V	probably damaging	Het
Slc7a10	A	G	7: 34,885,917 (GRCm39)	D4G	possibly damaging	Het
Stc1	A	G	14: 69,275,726 (GRCm39)	D173G	probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tex15	C	T	8: 34,061,424 (GRCm39)	Q559*	probably null	Het
Trim44	T	A	2: 102,230,365 (GRCm39)	E222V	probably benign	Het
Ubr5	T	C	15: 37,981,767 (GRCm39)	E2343G	possibly damaging	Het
Vmn2r86	T	C	10: 130,288,365 (GRCm39)	T379A	possibly damaging	Het
Vmn2r93	A	G	17: 18,545,819 (GRCm39)	T564A	probably benign	Het
Vsir	C	A	10: 60,203,539 (GRCm39)		probably benign	Het
Vwc2l	T	A	1: 70,768,163 (GRCm39)		probably null	Het
Xrn2	T	C	2: 146,871,850 (GRCm39)	V396A	possibly damaging	Het
Zbbx	T	A	3: 75,000,382 (GRCm39)	K208*	probably null	Het
Zfhx4	C	A	3: 5,309,344 (GRCm39)	L857M	probably damaging	Het
Zfp180	A	G	7: 23,800,904 (GRCm39)	D53G	probably benign	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
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
R6751:Arhgef28	UTSW	13	98,211,755 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2013-10-07