Mutagenetix > Incidental Mutation

Incidental Mutation 'R4063:Arhgef28'

315981

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

041619-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4063 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98035977-98342947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98130575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 421 (D421G)

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: D421G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: D421G

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 benign
Transcript: ENSMUST00000223849
AA Change: D421G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225663

Predicted Effect

probably benign
Transcript: ENSMUST00000225884
AA Change: D421G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (59/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	T	6: 146,854,606 (GRCm39)	F145L	probably benign	Het
Abcc9	T	C	6: 142,551,645 (GRCm39)	D1221G	possibly damaging	Het
Adamtsl4	T	C	3: 95,584,864 (GRCm39)	K935E	probably benign	Het
Ago4	A	T	4: 126,409,655 (GRCm39)		probably benign	Het
Armh4	T	A	14: 50,011,444 (GRCm39)	M88L	probably benign	Het
Atl2	T	C	17: 80,157,588 (GRCm39)	*413W	probably null	Het
B4galt7	C	A	13: 55,756,152 (GRCm39)		probably null	Het
Bltp3b	A	G	10: 89,651,917 (GRCm39)	N247S	probably benign	Het
C8g	A	T	2: 25,389,425 (GRCm39)	S147T	probably damaging	Het
Clstn3	A	T	6: 124,426,792 (GRCm39)	Y510N	possibly damaging	Het
Cnot2	A	G	10: 116,373,301 (GRCm39)	V34A	possibly damaging	Het
Cyb5d2	A	T	11: 72,686,606 (GRCm39)		probably benign	Het
Dnah5	T	C	15: 28,421,144 (GRCm39)	I3827T	probably damaging	Het
Dnah7a	G	T	1: 53,464,376 (GRCm39)	Q3672K	probably benign	Het
Dock1	A	T	7: 134,717,021 (GRCm39)	Y1219F	possibly damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Gm10719	G	T	9: 3,019,043 (GRCm39)	W96L	probably damaging	Het
H2-M2	G	A	17: 37,792,399 (GRCm39)	H291Y	probably damaging	Het
Hmgcl	T	C	4: 135,686,035 (GRCm39)	Y167H	probably damaging	Het
Il22ra2	A	T	10: 19,502,400 (GRCm39)	D73V	possibly damaging	Het
Incenp	A	T	19: 9,861,142 (GRCm39)	M480K	unknown	Het
Irag1	G	T	7: 110,522,984 (GRCm39)	A359D	probably benign	Het
Kdm6a	A	G	X: 18,117,114 (GRCm39)	T266A	probably benign	Het
Lipf	A	G	19: 33,942,965 (GRCm39)	N91S	probably benign	Het
M1ap	A	T	6: 82,980,756 (GRCm39)	N214I	probably damaging	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Mdga1	A	G	17: 30,057,005 (GRCm39)	C826R	probably damaging	Het
Msx1	C	A	5: 37,981,365 (GRCm39)	A105S	probably benign	Het
Or5ac23	A	C	16: 59,149,243 (GRCm39)	S210A	probably benign	Het
Otogl	A	T	10: 107,626,510 (GRCm39)	D1451E	probably benign	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Ppp1r13l	A	T	7: 19,103,978 (GRCm39)	H153L	probably benign	Het
Pramel21	A	G	4: 143,342,559 (GRCm39)	D222G	possibly damaging	Het
Pramel29	T	C	4: 143,935,265 (GRCm39)	K161E	possibly damaging	Het
Proz	A	G	8: 13,114,621 (GRCm39)	Y85C	probably damaging	Het
Prss50	A	G	9: 110,687,480 (GRCm39)	D141G	probably benign	Het
Rad54l2	T	A	9: 106,597,613 (GRCm39)	Q131L	probably benign	Het
Sdha	A	G	13: 74,472,077 (GRCm39)		probably benign	Het
Sema3d	T	A	5: 12,635,091 (GRCm39)	I719N	probably benign	Het
Slc18b1	A	T	10: 23,681,879 (GRCm39)	I148L	probably benign	Het
Tacc2	G	T	7: 130,330,852 (GRCm39)	D2086Y	probably damaging	Het
Tchh	T	C	3: 93,354,298 (GRCm39)	L1246P	unknown	Het
Tmprss11d	T	C	5: 86,457,177 (GRCm39)	I161V	probably benign	Het
Trpc3	T	C	3: 36,725,172 (GRCm39)	D268G	probably damaging	Het
Trpm8	G	A	1: 88,289,727 (GRCm39)	R895H	probably damaging	Het
Txndc2	A	G	17: 65,945,079 (GRCm39)	I366T	possibly damaging	Het
Ugt2a3	T	C	5: 87,484,725 (GRCm39)	I100V	probably benign	Het
Upp1	C	A	11: 9,081,709 (GRCm39)	P82Q	probably damaging	Het
Vim	A	G	2: 13,584,827 (GRCm39)		probably null	Het
Vmn2r12	A	T	5: 109,240,058 (GRCm39)	N168K	possibly damaging	Het
Zdhhc14	G	T	17: 5,802,983 (GRCm39)	C362F	probably damaging	Het
Zfp292	A	G	4: 34,810,863 (GRCm39)	V727A	probably damaging	Het
Zswim5	G	A	4: 116,735,177 (GRCm39)	G174D	unknown	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
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'- CAGTTTCCTGCAGGTCTCCC -3'
(R):5'- ACGTGTTATCTCTGGGAGTTTCAT -3'

Sequencing Primer
(F):5'- TGCAGGTCTCCCCCAGAAC -3'
(R):5'- ATCTCTGGGAGTTTCATTGATTTTAC -3'

Posted On

2015-05-15