Mutagenetix > Incidental Mutation

Incidental Mutation 'R1240:Arhgef28'

151955

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

039307-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98035977-98342947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98066000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1618 (V1618I)

Ref Sequence

ENSEMBL: ENSMUSP00000105053 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000109426
AA Change: V1618I

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

SMART Domains

Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: V1618I

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 benign
Transcript: ENSMUST00000225884

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	G	5: 124,227,984 (GRCm39)	I86L	probably benign	Het
Ankfn1	A	G	11: 89,282,960 (GRCm39)	L229P	probably damaging	Het
Aoc1	T	C	6: 48,882,549 (GRCm39)	S164P	probably benign	Het
Arpc3	T	C	5: 122,542,242 (GRCm39)	F88S	probably damaging	Het
Asgr2	G	T	11: 69,987,676 (GRCm39)	R58L	possibly damaging	Het
Bach2	T	C	4: 32,563,198 (GRCm39)	F432S	probably damaging	Het
Brms1l	C	A	12: 55,891,293 (GRCm39)	R116S	probably damaging	Het
Casp2	T	A	6: 42,245,879 (GRCm39)	C179S	probably damaging	Het
Ccdc73	A	T	2: 104,821,906 (GRCm39)	E618D	probably benign	Het
Cdh6	T	A	15: 13,057,541 (GRCm39)	D260V	possibly damaging	Het
Cenpc1	G	T	5: 86,183,369 (GRCm39)	N473K	probably benign	Het
Chst2	T	C	9: 95,287,536 (GRCm39)	E270G	possibly damaging	Het
Chst9	C	T	18: 15,586,231 (GRCm39)	E111K	probably benign	Het
Cyp3a44	T	G	5: 145,711,250 (GRCm39)	I474L	probably benign	Het
Dbr1	G	T	9: 99,466,073 (GRCm39)	E550D	probably benign	Het
Dph6	T	C	2: 114,475,199 (GRCm39)		probably null	Het
Fam227b	T	A	2: 125,966,505 (GRCm39)	I136L	possibly damaging	Het
Fcgbp	A	G	7: 27,819,950 (GRCm39)	N2559S	probably damaging	Het
Fh1	A	T	1: 175,431,581 (GRCm39)	I435N	probably damaging	Het
Gab1	A	C	8: 81,515,159 (GRCm39)	S386R	probably damaging	Het
Gkn1	T	A	6: 87,326,098 (GRCm39)	N31Y	probably damaging	Het
Grk2	A	G	19: 4,340,707 (GRCm39)	C251R	probably damaging	Het
H2-DMa	G	T	17: 34,357,380 (GRCm39)		probably null	Het
Hp1bp3	T	C	4: 137,957,009 (GRCm39)	S63P	probably damaging	Het
Ift74	A	G	4: 94,581,174 (GRCm39)		probably null	Het
Inf2	G	A	12: 112,577,210 (GRCm39)	R1018Q	unknown	Het
Kat2b	A	G	17: 53,931,425 (GRCm39)	D141G	probably benign	Het
Klhl30	T	C	1: 91,288,737 (GRCm39)	S499P	probably benign	Het
Lama2	A	C	10: 26,917,120 (GRCm39)	D2268E	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Marf1	T	C	16: 13,964,626 (GRCm39)	N258S	possibly damaging	Het
Mc1r	T	A	8: 124,134,999 (GRCm39)	C251S	probably damaging	Het
Myo15b	C	A	11: 115,771,327 (GRCm39)	Q257K	possibly damaging	Het
Nbeal2	A	G	9: 110,456,176 (GRCm39)	F2431S	probably damaging	Het
Neb	T	A	2: 52,186,321 (GRCm39)	H917L	possibly damaging	Het
Nlrp1a	A	G	11: 71,004,292 (GRCm39)		probably null	Het
Nr1d2	A	T	14: 18,211,891 (GRCm38)	M404K	probably benign	Het
Or4b1d	T	G	2: 89,969,157 (GRCm39)	I109L	possibly damaging	Het
Or8u8	T	G	2: 86,012,453 (GRCm39)	M1L	possibly damaging	Het
Otoa	T	C	7: 120,755,713 (GRCm39)	S1040P	probably benign	Het
Pctp	T	C	11: 89,893,640 (GRCm39)	D10G	probably benign	Het
Pja2	G	T	17: 64,616,613 (GRCm39)	T94K	probably benign	Het
Plxna1	C	T	6: 89,298,032 (GRCm39)	V1749M	probably damaging	Het
Prdm15	C	T	16: 97,638,800 (GRCm39)	E87K	probably damaging	Het
Rgsl1	A	G	1: 153,660,937 (GRCm39)	F1028L	probably benign	Het
Sepsecs	T	C	5: 52,818,021 (GRCm39)	N252S	probably damaging	Het
Skint5	A	T	4: 113,574,304 (GRCm39)	L749Q	unknown	Het
Slc22a22	G	A	15: 57,114,268 (GRCm39)	S353F	probably benign	Het
Slc49a4	A	G	16: 35,518,379 (GRCm39)	F445L	probably benign	Het
Slc7a13	A	T	4: 19,819,212 (GRCm39)	K137N	probably damaging	Het
Snx13	G	T	12: 35,141,405 (GRCm39)	V163L	probably damaging	Het
Synrg	A	T	11: 83,914,182 (GRCm39)	T1115S	probably damaging	Het
Tenm3	A	G	8: 48,740,928 (GRCm39)	V1185A	possibly damaging	Het
Tent5b	T	C	4: 133,213,815 (GRCm39)	F229L	probably benign	Het
Tg	T	A	15: 66,700,397 (GRCm39)	N118K	probably benign	Het
Top1mt	T	C	15: 75,541,916 (GRCm39)	K153E	probably damaging	Het
Trmt11	T	C	10: 30,466,821 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,675,061 (GRCm39)	D1953G	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,864 (GRCm39)	S137C	probably damaging	Het
Vwf	C	A	6: 125,580,271 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ATTCACTCTACGGAGGAGCCAACC -3'
(R):5'- TGTTGCAGGATACGTTCTCAGCC -3'

Sequencing Primer
(F):5'- GGAGGAGCCAACCACTCAG -3'
(R):5'- ATAAAGTGGAGATTCTCTGATGGC -3'

Posted On

2014-01-29