Mutagenetix > Incidental Mutation

Incidental Mutation 'H8786:Arhgef28'

44468

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

H8786 (G3) of strain 617

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98035977-98342947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98083461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1136 (Q1136L)

Ref Sequence

ENSEMBL: ENSMUSP00000153423 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000109426
AA Change: Q1136L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: Q1136L

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: ENSMUST00000225269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225663

Predicted Effect

probably damaging
Transcript: ENSMUST00000225884
AA Change: Q1136L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,498,905 (GRCm39)	Y363H	probably benign	Het
4933402N03Rik	T	A	7: 130,740,906 (GRCm39)	R103S	probably damaging	Het
Aars1	A	G	8: 111,772,187 (GRCm39)	D459G	probably benign	Het
Adam25	A	T	8: 41,207,261 (GRCm39)	M176L	probably benign	Het
Adcy5	A	G	16: 35,087,551 (GRCm39)	I471V	probably damaging	Het
Ano8	A	T	8: 71,931,388 (GRCm39)		probably benign	Het
Atp13a3	A	T	16: 30,178,543 (GRCm39)	C164*	probably null	Het
Avl9	G	A	6: 56,734,295 (GRCm39)	A625T	probably damaging	Het
Avpr1a	A	T	10: 122,285,373 (GRCm39)	M222L	probably benign	Het
B4galnt4	A	T	7: 140,651,235 (GRCm39)	M939L	probably damaging	Het
B4galt6	A	G	18: 20,822,001 (GRCm39)	F331S	probably benign	Het
C2cd2	G	T	16: 97,680,840 (GRCm39)	Q325K	possibly damaging	Het
Caml	T	G	13: 55,776,409 (GRCm39)	L216R	probably damaging	Het
Cd200r4	A	G	16: 44,653,736 (GRCm39)	T132A	possibly damaging	Het
Ces1h	A	C	8: 94,089,550 (GRCm39)	V283G	probably damaging	Het
Clptm1	A	T	7: 19,369,629 (GRCm39)	V427D	possibly damaging	Het
Drd1	T	A	13: 54,207,122 (GRCm39)	N357I	possibly damaging	Het
Foxq1	C	G	13: 31,743,441 (GRCm39)	S181W	probably damaging	Het
Gfra2	C	T	14: 71,215,818 (GRCm39)	T169M	possibly damaging	Het
Gm42542	T	C	6: 68,872,634 (GRCm39)		probably null	Het
Hoxa13	CGG	CGNGG	6: 52,260,636 (GRCm38)		probably null	Het
Hsd11b1	C	A	1: 192,922,560 (GRCm39)	A166S	probably benign	Het
Kcnab3	T	A	11: 69,219,093 (GRCm39)	F101L	probably damaging	Het
Klf6	C	A	13: 5,911,790 (GRCm39)	H51Q	probably damaging	Het
Krtap4-8	G	A	11: 99,670,898 (GRCm39)	P191L	unknown	Het
Lrrk2	T	A	15: 91,557,561 (GRCm39)	N26K	probably benign	Het
Mrgprd	T	C	7: 144,876,004 (GRCm39)	S292P	probably benign	Het
Ms4a8a	A	G	19: 11,053,725 (GRCm39)	I127T	possibly damaging	Het
Myo7a	T	G	7: 97,744,985 (GRCm39)	N280T	possibly damaging	Het
Nipal4	A	G	11: 46,041,304 (GRCm39)	F297S	probably damaging	Het
Npas1	A	G	7: 16,195,275 (GRCm39)	I351T	possibly damaging	Het
Or12k7	A	G	2: 36,958,341 (GRCm39)	E8G	probably benign	Het
Or4a72	C	A	2: 89,405,623 (GRCm39)	G149V	probably damaging	Het
Or9e1	A	T	11: 58,732,146 (GRCm39)	I69F	probably benign	Het
Parp11	A	G	6: 127,448,598 (GRCm39)	T72A	probably damaging	Het
Pik3c3	T	C	18: 30,427,396 (GRCm39)	V300A	probably damaging	Het
Pik3cb	T	C	9: 98,928,612 (GRCm39)	E881G	possibly damaging	Het
Polr2h	T	A	16: 20,539,281 (GRCm39)	L57*	probably null	Het
Rela	T	A	19: 5,697,046 (GRCm39)	S418T	probably benign	Het
Rptn	A	G	3: 93,305,180 (GRCm39)	T838A	possibly damaging	Het
Sez6l2	T	A	7: 126,560,955 (GRCm39)	N413K	possibly damaging	Het
Slc6a2	A	G	8: 93,721,268 (GRCm39)	I466V	probably benign	Het
Slco4c1	A	T	1: 96,768,876 (GRCm39)	C329S	probably damaging	Het
Sppl2c	A	G	11: 104,077,691 (GRCm39)	M164V	probably benign	Het
Spta1	G	A	1: 174,007,405 (GRCm39)	V212M	probably damaging	Het
Sqor	A	C	2: 122,634,288 (GRCm39)	I142L	probably benign	Het
Suco	T	C	1: 161,680,420 (GRCm39)	E317G	probably damaging	Het
Tlk2	T	A	11: 105,145,805 (GRCm39)	I337N	possibly damaging	Het
Tln1	A	T	4: 43,544,589 (GRCm39)	N1113K	probably damaging	Het
Tmc2	A	G	2: 130,068,182 (GRCm39)	Y234C	probably damaging	Het
Tmem167	A	C	13: 90,246,585 (GRCm39)	K36N	probably damaging	Het
Trim72	T	C	7: 127,603,963 (GRCm39)	L103P	probably damaging	Het
Tut4	T	C	4: 108,408,012 (GRCm39)		probably null	Het
Urb1	T	A	16: 90,566,357 (GRCm39)	M1477L	probably benign	Het
Vwa2	T	A	19: 56,898,164 (GRCm39)	M721K	possibly damaging	Het
Zfp143	T	G	7: 109,693,575 (GRCm39)	D636E	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
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

Predicted Primers

PCR Primer
(F):5'- GCTGAGGCAAAGTTTTCATGCAGG -3'
(R):5'- AAACACTGTCATAGCCAGCGGAG -3'

Sequencing Primer
(F):5'- CTGAACAAGGGCATTCCATAGG -3'
(R):5'- GAGAGCTAATGTGATACTTTTTCTGC -3'

Posted On

2013-06-11