Mutagenetix > Incidental Mutation

Incidental Mutation 'R3922:Arhgef28'

306993

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

040819-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98035977-98342947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98130452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 462 (L462P)

Ref Sequence

ENSEMBL: ENSMUSP00000153000 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109426
AA Change: L462P

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: L462P

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

possibly damaging
Transcript: ENSMUST00000223849
AA Change: L462P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225663

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225884
AA Change: L462P

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (44/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
4921504E06Rik	T	A	2: 19,485,371 (GRCm39)	E432V	probably benign	Het
Ahnak	G	A	19: 8,983,692 (GRCm39)	D1659N	probably benign	Het
Arfgap2	C	T	2: 91,105,150 (GRCm39)	R405W	probably damaging	Het
Arid1b	T	C	17: 5,393,316 (GRCm39)	V2282A	probably damaging	Het
Becn2	T	C	1: 175,748,852 (GRCm39)	V306A	probably benign	Het
Cdkl1	G	T	12: 69,803,373 (GRCm39)	R168S	probably damaging	Het
Cep70	T	A	9: 99,157,632 (GRCm39)	*117R	probably null	Het
Cnnm1	A	G	19: 43,428,884 (GRCm39)	M1V	probably null	Het
Cntrl	A	G	2: 35,019,751 (GRCm39)	E526G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Ddx59	T	A	1: 136,344,482 (GRCm39)	V51D	probably benign	Het
Dtd2	G	C	12: 52,051,734 (GRCm39)		probably null	Het
Eea1	T	A	10: 95,872,495 (GRCm39)	N1068K	probably benign	Het
Egfr	T	A	11: 16,831,495 (GRCm39)	C555S	probably damaging	Het
Esd	A	T	14: 74,980,667 (GRCm39)	Q130H	probably benign	Het
Gpr89	A	T	3: 96,798,215 (GRCm39)	I147N	probably damaging	Het
H2-M10.1	T	A	17: 36,636,577 (GRCm39)	I76L	probably benign	Het
Lgi4	A	T	7: 30,766,873 (GRCm39)	D300V	probably benign	Het
Lrp1b	C	A	2: 40,567,593 (GRCm39)	V276L	unknown	Het
Lrp2	T	C	2: 69,336,720 (GRCm39)	K1351E	probably benign	Het
Mroh8	T	C	2: 157,064,731 (GRCm39)	I782V	probably benign	Het
Msrb1	T	C	17: 24,959,057 (GRCm39)	S70P	probably damaging	Het
Nek10	T	C	14: 14,861,585 (GRCm38)	M547T	possibly damaging	Het
Or51ah3	T	C	7: 103,209,912 (GRCm39)	V76A	probably benign	Het
Or6c2b	C	A	10: 128,947,482 (GRCm39)	V271F	possibly damaging	Het
Or9i2	T	C	19: 13,816,130 (GRCm39)	T136A	probably damaging	Het
P4htm	T	C	9: 108,460,094 (GRCm39)	N227D	probably benign	Het
Plekhm2	T	C	4: 141,356,843 (GRCm39)	T787A	probably benign	Het
Pramel5	A	G	4: 143,999,622 (GRCm39)	L155P	probably damaging	Het
Sbno1	T	C	5: 124,519,993 (GRCm39)	Y1122C	probably damaging	Het
Scn9a	T	A	2: 66,357,217 (GRCm39)	D1028V	possibly damaging	Het
Sft2d1	G	T	17: 8,537,714 (GRCm39)	L34F	possibly damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc27a3	G	T	3: 90,294,392 (GRCm39)	H460N	possibly damaging	Het
Slc35g2	A	T	9: 100,434,780 (GRCm39)	I297N	probably benign	Het
Ssh1	T	G	5: 114,080,769 (GRCm39)	Q865P	possibly damaging	Het
Trp63	A	G	16: 25,707,759 (GRCm39)	D583G	probably damaging	Het
Usp28	T	C	9: 48,942,223 (GRCm39)		probably null	Het
Wdr43	A	G	17: 71,945,296 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,465,707 (GRCm39)	Y1955C	probably damaging	Het
Zfp108	G	A	7: 23,960,773 (GRCm39)	G455R	probably damaging	Het
Zfp353-ps	A	T	8: 42,536,049 (GRCm39)		noncoding transcript	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
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'- TAATAGTCAGCATCGTGGTTTTCC -3'
(R):5'- GGTTGGCGATTTGGATATCAAC -3'

Sequencing Primer
(F):5'- GCAATTTCTTTGGCTTTCTTAAAGG -3'
(R):5'- ATACGAGTCCCGAGTCTGG -3'

Posted On

2015-04-17