Mutagenetix > Incidental Mutation

Incidental Mutation 'R8293:Arhgef28'

638816

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

067783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98035977-98342947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98079029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1299 (E1299G)

Ref Sequence

ENSEMBL: ENSMUSP00000105053 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000109426
AA Change: E1299G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: E1299G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (58/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,864 (GRCm39)	S105P	possibly damaging	Het
Acsm1	T	G	7: 119,237,319 (GRCm39)	S211A	possibly damaging	Het
Adam4	T	A	12: 81,467,185 (GRCm39)	R479*	probably null	Het
Agap3	A	C	5: 24,692,883 (GRCm39)	S439R	probably damaging	Het
Arap1	A	T	7: 101,050,141 (GRCm39)	H1075L	probably benign	Het
Bnip5	T	C	17: 29,121,864 (GRCm39)	K468E	probably benign	Het
Cc2d2a	A	T	5: 43,845,570 (GRCm39)	I329F	probably damaging	Het
Ccdc9b	T	A	2: 118,591,796 (GRCm39)	T115S	probably damaging	Het
Cd200r1	A	G	16: 44,610,084 (GRCm39)	N101S	probably benign	Het
Ces2b	A	C	8: 105,559,258 (GRCm39)	T40P	unknown	Het
Cfap221	A	G	1: 119,909,504 (GRCm39)	V156A	possibly damaging	Het
Chrm4	C	T	2: 91,758,563 (GRCm39)	P324S	probably benign	Het
Chrna1	T	A	2: 73,400,850 (GRCm39)	M227L	probably benign	Het
Cntln	A	G	4: 84,952,075 (GRCm39)	D639G	probably damaging	Het
Cts8	A	G	13: 61,401,882 (GRCm39)	V5A	probably benign	Het
Cxcl2	A	T	5: 91,052,088 (GRCm39)	T65S	probably damaging	Het
Cyp2c39	G	T	19: 39,552,411 (GRCm39)	R368L	probably benign	Het
D630023F18Rik	A	T	1: 65,147,939 (GRCm39)	S205T	probably benign	Het
Dagla	A	T	19: 10,229,401 (GRCm39)		probably null	Het
Dtnbp1	G	A	13: 45,084,615 (GRCm39)	T175I	probably benign	Het
Dtx3	A	G	10: 127,026,882 (GRCm39)	L332P	probably damaging	Het
E2f4	A	G	8: 106,024,451 (GRCm39)	T27A	probably damaging	Het
Ep400	A	G	5: 110,856,758 (GRCm39)	F1163L	unknown	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fbxo40	T	C	16: 36,790,387 (GRCm39)	D241G	probably benign	Het
Fus	T	C	7: 127,571,749 (GRCm39)	S184P	unknown	Het
Gabarap	C	A	11: 69,883,498 (GRCm39)	T87N	possibly damaging	Het
Gbp10	A	C	5: 105,372,235 (GRCm39)	V175G	probably damaging	Het
Gcm2	A	G	13: 41,256,646 (GRCm39)	Y368H	probably damaging	Het
Heca	A	G	10: 17,778,011 (GRCm39)	Y529H	probably damaging	Het
Incenp	G	A	19: 9,852,497 (GRCm39)	R714*	probably null	Het
Lvrn	C	A	18: 46,983,632 (GRCm39)	T125K	possibly damaging	Het
Ms4a6c	T	A	19: 11,455,660 (GRCm39)	S156R	probably benign	Het
Nab2	C	A	10: 127,502,266 (GRCm39)	R21L	possibly damaging	Het
Neb	A	T	2: 52,136,827 (GRCm39)	M3218K	probably benign	Het
Nwd2	A	G	5: 63,962,663 (GRCm39)	D749G	probably benign	Het
Nxpe5	A	T	5: 138,228,804 (GRCm39)	Q7L	probably benign	Het
Or10ak12	T	A	4: 118,666,939 (GRCm39)	T41S	probably benign	Het
Or4f62	A	T	2: 111,986,598 (GRCm39)	M101L	probably benign	Het
Or5p4	A	T	7: 107,680,269 (GRCm39)	E89D	probably benign	Het
Or8g26	A	G	9: 39,095,689 (GRCm39)	I72V	possibly damaging	Het
Pla2g5	A	G	4: 138,531,917 (GRCm39)	I29T	probably damaging	Het
Prpf31	C	T	7: 3,643,917 (GRCm39)	T499I	probably damaging	Het
Rnf130	T	A	11: 49,986,623 (GRCm39)	D322E	probably benign	Het
Ros1	T	C	10: 51,964,014 (GRCm39)	N1770D	probably damaging	Het
Sacs	T	A	14: 61,428,548 (GRCm39)	D202E	probably damaging	Het
Simc1	A	G	13: 54,674,359 (GRCm39)	I902M	probably damaging	Het
Slc12a8	A	T	16: 33,361,348 (GRCm39)	M77L	probably benign	Het
Slc35f2	G	A	9: 53,724,224 (GRCm39)	G366D	probably benign	Het
Slc44a2	A	G	9: 21,264,984 (GRCm39)	D674G	probably damaging	Het
Smok2a	A	C	17: 13,445,791 (GRCm39)	E456A	probably benign	Het
Stip1	T	C	19: 7,011,618 (GRCm39)	N139S	probably benign	Het
Taar8c	C	T	10: 23,977,015 (GRCm39)	V266M	probably benign	Het
Tank	T	A	2: 61,474,758 (GRCm39)	I204N	possibly damaging	Het
Tcerg1	A	G	18: 42,694,020 (GRCm39)	T714A	probably benign	Het
Tenm3	A	T	8: 48,820,457 (GRCm39)	F334I	possibly damaging	Het
Ubr1	T	C	2: 120,693,202 (GRCm39)	I1735V	probably benign	Het
Vps13a	A	T	19: 16,645,969 (GRCm39)	S2023T	possibly damaging	Het
Wdfy4	T	C	14: 32,696,218 (GRCm39)	H2741R		Het
Wnt10a	G	T	1: 74,842,376 (GRCm39)	R284L	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
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
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'- GACCAGCATGATTATTCTCAAGG -3'
(R):5'- CCCTGGGTTGTATAATAACAGTTG -3'

Sequencing Primer
(F):5'- TTACATTAAGTTCCCCTGAAATCAG -3'
(R):5'- ACGTGGCAGAGTTTCAATCC -3'

Posted On

2020-07-28