Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02532:Arhgef28'

297339

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 #

IGL02532

Quality Score

Status

Chromosome

Chromosomal Location

98035977-98342947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98166391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 319 (D319V)

Ref Sequence

ENSEMBL: ENSMUSP00000153000 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000109426
AA Change: D319V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: D319V

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

probably damaging
Transcript: ENSMUST00000223849
AA Change: D319V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225663

Predicted Effect

probably benign
Transcript: ENSMUST00000225884
AA Change: D319V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	T	C	7: 28,947,645 (GRCm39)	K15E	possibly damaging	Het
Abca2	A	G	2: 25,325,148 (GRCm39)	T381A	probably benign	Het
Adcy1	T	A	11: 7,094,737 (GRCm39)	N554K	probably benign	Het
Adcy5	A	G	16: 35,092,453 (GRCm39)	I605V	possibly damaging	Het
Arhgap11a	G	T	2: 113,664,021 (GRCm39)	S754*	probably null	Het
Brca2	A	G	5: 150,474,327 (GRCm39)	D2410G	probably damaging	Het
Carmil2	T	A	8: 106,419,063 (GRCm39)		probably null	Het
Catip	A	G	1: 74,403,775 (GRCm39)	N189S	probably damaging	Het
Cd177	T	C	7: 24,444,674 (GRCm39)	K636E	probably benign	Het
Cep290	A	G	10: 100,380,927 (GRCm39)	T145A	probably benign	Het
Cthrc1	T	C	15: 38,940,560 (GRCm39)		probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fas	C	A	19: 34,293,999 (GRCm39)	T118N	probably damaging	Het
Fgd3	G	A	13: 49,439,237 (GRCm39)	A253V	probably damaging	Het
Fig4	A	G	10: 41,161,277 (GRCm39)		probably benign	Het
Fubp3	T	C	2: 31,490,571 (GRCm39)		probably benign	Het
Gria2	T	A	3: 80,614,306 (GRCm39)	E578V	probably damaging	Het
Gtpbp1	T	A	15: 79,604,278 (GRCm39)	V662E	probably benign	Het
Hbb-bt	T	C	7: 103,463,081 (GRCm39)		probably benign	Het
Ighv6-5	T	A	12: 114,380,424 (GRCm39)	D50V	probably benign	Het
Inpp5k	T	C	11: 75,524,010 (GRCm39)		probably benign	Het
Kalrn	T	C	16: 34,181,216 (GRCm39)	N141D	probably damaging	Het
Kbtbd8	A	G	6: 95,103,517 (GRCm39)	T389A	probably benign	Het
Klhl6	C	A	16: 19,775,832 (GRCm39)	R242L	possibly damaging	Het
Kmt2b	T	C	7: 30,286,314 (GRCm39)		probably benign	Het
Krt13	A	T	11: 100,010,195 (GRCm39)	L262Q	probably damaging	Het
Lingo2	T	C	4: 35,709,171 (GRCm39)	K270E	possibly damaging	Het
Mroh7	A	G	4: 106,577,788 (GRCm39)	S297P	probably benign	Het
Ndufs1	G	A	1: 63,209,298 (GRCm39)	R22C	probably damaging	Het
Nlrp5	T	A	7: 23,109,398 (GRCm39)	S115T	possibly damaging	Het
Nup50l	A	C	6: 96,141,771 (GRCm39)	S424R	probably damaging	Het
Pfpl	A	T	19: 12,406,209 (GRCm39)	R153S	probably damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Psme1	T	A	14: 55,818,595 (GRCm39)	Y223*	probably null	Het
R3hdm1	T	C	1: 128,124,836 (GRCm39)		probably null	Het
Rnf103	A	G	6: 71,486,809 (GRCm39)	D480G	probably benign	Het
Rnf103	T	G	6: 71,486,636 (GRCm39)	S422R	probably damaging	Het
Rps6ka2	T	C	17: 7,523,365 (GRCm39)	V213A	probably damaging	Het
Sort1	G	T	3: 108,233,036 (GRCm39)	K203N	probably benign	Het
Sugp1	A	T	8: 70,512,469 (GRCm39)	K239N	possibly damaging	Het
Sult2a8	C	T	7: 14,150,183 (GRCm39)	R176K	probably benign	Het
Usp34	T	A	11: 23,320,291 (GRCm39)	N888K	probably damaging	Het
Vmn1r4	A	C	6: 56,934,135 (GRCm39)	H213P	possibly damaging	Het
Wdr45b	G	T	11: 121,219,639 (GRCm39)	T303K	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
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
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

2015-04-16