Mutagenetix > Incidental Mutation

Incidental Mutation 'RF040:Rragd'

604757

Institutional Source

Beutler Lab

Gene Symbol

Rragd

Ensembl Gene

ENSMUSG00000028278

Gene Name

Ras-related GTP binding D

Synonyms

D4Ertd174e, C030003H22Rik, 5730543C08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF040 (G1)

Quality Score

214.46

Status

Not validated

Chromosome

Chromosomal Location

32983037-33022180 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

CATGCCTTTCATTCTA to C at 32995150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029946] [ENSMUST00000084747] [ENSMUST00000098190]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029946

SMART Domains

Protein: ENSMUSP00000029946
Gene: ENSMUSG00000028278

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:Arf	105	291	9.5e-9	PFAM
Pfam:SRPRB	114	220	1.2e-7	PFAM
Pfam:Gtr1_RagA	118	344	3.2e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084747

SMART Domains

Protein: ENSMUSP00000081799
Gene: ENSMUSG00000028278

Domain	Start	End	E-Value	Type
Pfam:Gtr1_RagA	24	169	1.5e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098190

SMART Domains

Protein: ENSMUSP00000095792
Gene: ENSMUSG00000028278

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:Arf	51	236	8.2e-9	PFAM
Pfam:SRPRB	59	166	9.5e-8	PFAM
Pfam:Gtr1_RagA	63	289	9.9e-75	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGCTGTG	TGCTGTGACAGCTGTG	1: 82,891,298 (GRCm39)		probably benign	Het
A030005L19Rik	G	GTGGCTGCTC	1: 82,891,311 (GRCm39)		probably benign	Het
Brme1	TG	TGTCAGGGCAGCAGCAG	8: 84,894,204 (GRCm39)		probably benign	Het
Cacna1f	CTGAATTGGTTCCCAGACCCGTGT	CT	X: 7,485,210 (GRCm39)		probably null	Het
Calhm1	C	CTGTGGCTGTGGA	19: 47,129,716 (GRCm39)		probably benign	Het
Cdx1	CTGCTG	CTGCTGATGCTG	18: 61,152,942 (GRCm39)		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,462 (GRCm39)		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,750 (GRCm39)		probably null	Het
Dnajc2	TAGTTG	T	5: 21,962,695 (GRCm39)		probably null	Het
Fgd6	ATT	A	10: 93,880,187 (GRCm39)		probably null	Het
Flywch1	CTCCTGGTGT	CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT	17: 23,981,143 (GRCm39)		probably null	Het
Gab3	CTT	CTTTTT	X: 74,043,633 (GRCm39)		probably benign	Het
Garin5a	C	CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA	7: 44,149,945 (GRCm39)		probably null	Het
Garin5a	GGGAGGA	GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA	7: 44,149,955 (GRCm39)		probably null	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Heatr3	TAT	TATTGAT	8: 88,883,085 (GRCm39)		probably benign	Het
Kmt2e	TTT	TTTTCTT	5: 23,683,507 (GRCm39)		probably benign	Het
Luzp1	A	AGGTGGCCTCTTCAGC	4: 136,270,507 (GRCm39)		probably benign	Het
Mamld1	AACA	AACAACA	X: 70,162,420 (GRCm39)		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,875,749 (GRCm39)		probably benign	Het
Med12l	AGC	AGCCGC	3: 59,183,388 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,410 (GRCm39)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,567,571 (GRCm39)		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)		probably null	Het
Ncoa6	TGCAGC	TGC	2: 155,263,651 (GRCm39)		probably benign	Het
Nlrp3	GGGTA	G	11: 59,449,378 (GRCm39)		probably null	Het
Nolc1	AGCAGCAGC	AGCAGCAGCCGCAGCAGC	19: 46,069,802 (GRCm39)		probably benign	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,068 (GRCm39)		probably benign	Het
Or10j2	GTGACATC	G	1: 173,098,276 (GRCm39)		probably null	Het
Or52z15	ACTTGCTGATATCTT	ACTT	7: 103,332,145 (GRCm39)		probably null	Het
Osmr	TTCT	TTCTTCT	15: 6,867,182 (GRCm39)		probably benign	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Het
Pdik1l	AC	ACCACCGC	4: 134,006,826 (GRCm39)		probably benign	Het
Rpgrip1	AGGAAGAGG	AG	14: 52,386,994 (GRCm39)		probably null	Het
Ryr3	CTGA	C	2: 112,740,869 (GRCm39)		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,373,055 (GRCm39)		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC	15: 76,499,066 (GRCm39)		probably benign	Het
Smarca2	GC	GCCCCACC	19: 26,608,422 (GRCm39)		probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sprr2b	CAGTATGCTGTGAGCCTTGTCCTCCT	C	3: 92,224,871 (GRCm39)		probably null	Het
Sry	GCTG	GCTGGTGGTGGTGGTCATGGAACTG	Y: 2,662,590 (GRCm39)		probably benign	Het
Tcof1	CT	CTATT	18: 60,961,480 (GRCm39)		probably benign	Het
Tcof1	GC	GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC	18: 60,966,655 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,037 (GRCm39)		probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,022 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGGAG	17: 48,097,035 (GRCm39)		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGTCTTGCCAGAAG	6: 72,593,057 (GRCm39)		probably benign	Het
Tmem59	TTTGTTT	TTTGTTTGGTTGTTT	4: 107,047,723 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	15: 72,673,141 (GRCm39)		probably benign	Het
Triobp	CAA	CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA	15: 78,851,263 (GRCm39)		probably benign	Het
Xirp2	TT	TTTAT	2: 67,355,888 (GRCm39)		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGGAGCA	8: 109,682,733 (GRCm39)		probably benign	Het

Other mutations in Rragd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Rragd	APN	4	33,007,219 (GRCm39)	splice site	probably benign
R0432:Rragd	UTSW	4	33,004,332 (GRCm39)	missense	probably damaging	0.98
R0542:Rragd	UTSW	4	33,007,103 (GRCm39)	missense	probably damaging	1.00
R1521:Rragd	UTSW	4	32,996,005 (GRCm39)	missense	probably damaging	0.96
R4090:Rragd	UTSW	4	33,007,155 (GRCm39)	missense	probably damaging	1.00
R4272:Rragd	UTSW	4	32,996,099 (GRCm39)	critical splice donor site	probably null
R4812:Rragd	UTSW	4	33,018,766 (GRCm39)	missense	probably benign	0.11
R4817:Rragd	UTSW	4	32,995,072 (GRCm39)	missense	probably benign
R6235:Rragd	UTSW	4	32,995,985 (GRCm39)	missense	possibly damaging	0.78
R7124:Rragd	UTSW	4	32,996,027 (GRCm39)	missense	possibly damaging	0.83
R7532:Rragd	UTSW	4	33,004,166 (GRCm39)	missense	possibly damaging	0.72
R7640:Rragd	UTSW	4	32,983,527 (GRCm39)	missense	probably benign	0.09
R8280:Rragd	UTSW	4	32,995,112 (GRCm39)	missense	probably benign
R8479:Rragd	UTSW	4	33,018,734 (GRCm39)	missense	probably benign
R8813:Rragd	UTSW	4	33,012,953 (GRCm39)	missense	possibly damaging	0.59
R9027:Rragd	UTSW	4	32,996,083 (GRCm39)	missense	probably damaging	0.96
R9220:Rragd	UTSW	4	32,995,924 (GRCm39)	missense	probably damaging	1.00
R9643:Rragd	UTSW	4	33,012,998 (GRCm39)	missense	probably benign	0.00
RF061:Rragd	UTSW	4	32,995,150 (GRCm39)	intron	probably benign
Z1177:Rragd	UTSW	4	33,005,141 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTCCTTGATTTCATTCAACTACC -3'
(R):5'- GGACAGATCTGCCCTCTTCATC -3'

Sequencing Primer
(F):5'- TGATTTCATTCAACTACCACAACAG -3'
(R):5'- AGATCTGCCCTCTTCATCTAGTAAG -3'

Posted On

2019-12-04