Mutagenetix > Incidental Mutation

Incidental Mutation 'R6488:Rraga'

522494

Institutional Source

Beutler Lab

Gene Symbol

Rraga

Ensembl Gene

ENSMUSG00000070934

Gene Name

Ras-related GTP binding A

Synonyms

FIP-1, 1300010C19Rik

MMRRC Submission

044620-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6488 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86493910-86495522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86494565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 137 (R137H)

Ref Sequence

ENSEMBL: ENSMUSP00000088591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070607] [ENSMUST00000091064]

AlphaFold

Q80X95

Predicted Effect

probably benign
Transcript: ENSMUST00000070607

SMART Domains

Protein: ENSMUSP00000070504
Gene: ENSMUSG00000038047

Domain	Start	End	E-Value	Type
Pfam:HAUS6_N	14	238	1.1e-77	PFAM
low complexity region	613	624	N/A	INTRINSIC
low complexity region	771	785	N/A	INTRINSIC
low complexity region	915	927	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000091064
AA Change: R137H

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

SMART Domains

Protein: ENSMUSP00000088591
Gene: ENSMUSG00000070934
AA Change: R137H

Domain	Start	End	E-Value	Type
Pfam:Arf	1	176	6.3e-10	PFAM
Pfam:MMR_HSR1	9	130	1e-7	PFAM
Pfam:Roc	9	131	3.9e-10	PFAM
Pfam:Ras	9	177	3.2e-10	PFAM
Pfam:Gtr1_RagA	9	235	2.5e-111	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

96% (65/68)

MGI Phenotype

PHENOTYPE: Mice homozygous for a constitutively active knock-in allele exhibit neonatal lethality associated with impaired hepatic gluconeogenesis and impaired autophagy. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,298 (GRCm39)	Q334*	probably null	Het
Abhd15	T	C	11: 77,406,848 (GRCm39)	F275S	possibly damaging	Het
Adamts7	A	G	9: 90,053,535 (GRCm39)	T27A	probably benign	Het
Ankar	A	G	1: 72,720,967 (GRCm39)		probably null	Het
Ap2a2	T	C	7: 141,182,220 (GRCm39)	V183A	probably benign	Het
Arhgef37	G	A	18: 61,651,123 (GRCm39)	A134V	probably benign	Het
Col3a1	C	A	1: 45,370,694 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,527,926 (GRCm39)	S10P	possibly damaging	Het
Cxcr5	A	G	9: 44,425,276 (GRCm39)	V127A	probably damaging	Het
Eif4b	T	A	15: 102,001,422 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,636,430 (GRCm39)	V228A	probably damaging	Het
Fam83h	T	C	15: 75,873,902 (GRCm39)	E1145G	possibly damaging	Het
Fcgbp	A	G	7: 27,792,963 (GRCm39)	D989G	probably damaging	Het
Fchsd1	T	C	18: 38,100,321 (GRCm39)		probably null	Het
Fcnb	T	C	2: 27,968,301 (GRCm39)	K219E	probably damaging	Het
Fndc7	T	C	3: 108,777,891 (GRCm39)	E355G	probably damaging	Het
Glis3	T	C	19: 28,276,253 (GRCm39)	H746R	probably benign	Het
Glod4	A	G	11: 76,128,611 (GRCm39)	V74A	probably damaging	Het
Gpc6	T	C	14: 118,202,125 (GRCm39)	I445T	possibly damaging	Het
Hdlbp	T	C	1: 93,355,946 (GRCm39)	D337G	probably damaging	Het
Hnf1a	T	C	5: 115,094,020 (GRCm39)	T190A	probably benign	Het
Iqgap1	G	C	7: 80,380,074 (GRCm39)	T1129R	probably benign	Het
Kcnc3	T	C	7: 44,244,606 (GRCm39)	F299L	possibly damaging	Het
Kif26b	T	C	1: 178,357,138 (GRCm39)	V4A	unknown	Het
Kifbp	C	A	10: 62,395,437 (GRCm39)		probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Krtap4-1	G	T	11: 99,518,903 (GRCm39)	R36S	unknown	Het
Lrpprc	T	C	17: 85,058,781 (GRCm39)	N693S	probably damaging	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mettl22	T	C	16: 8,305,225 (GRCm39)	F293L	probably damaging	Het
Mga	T	A	2: 119,791,388 (GRCm39)	N2424K	probably damaging	Het
Mgat4f	T	A	1: 134,318,626 (GRCm39)	V466D	probably damaging	Het
Mpdz	G	T	4: 81,205,970 (GRCm39)	A1784E	probably benign	Het
Mpv17l	G	A	16: 13,764,452 (GRCm39)		probably null	Het
Mtus1	G	A	8: 41,494,545 (GRCm39)	S29L	possibly damaging	Het
Myo15a	A	T	11: 60,369,313 (GRCm39)	H691L	possibly damaging	Het
Nbea	T	C	3: 55,625,264 (GRCm39)	T2276A	probably damaging	Het
Npas4	A	G	19: 5,036,011 (GRCm39)	S718P	probably damaging	Het
Ntrk2	T	A	13: 59,009,170 (GRCm39)	N320K	possibly damaging	Het
Nup214	T	A	2: 31,881,384 (GRCm39)	I414N	possibly damaging	Het
Oas2	A	G	5: 120,876,428 (GRCm39)	F15S	probably damaging	Het
Or52z15	T	C	7: 103,332,285 (GRCm39)	I110T	probably damaging	Het
Or5b118	T	C	19: 13,448,981 (GRCm39)	Y216H	probably damaging	Het
Pabpc6	A	G	17: 9,888,528 (GRCm39)	Y8H	probably damaging	Het
Pbx1	T	A	1: 168,018,964 (GRCm39)	N294Y	probably damaging	Het
Pcyt1a	T	C	16: 32,285,899 (GRCm39)	M190T	probably damaging	Het
Pogk	T	C	1: 166,226,991 (GRCm39)	I387V	possibly damaging	Het
Ppp6r2	T	C	15: 89,152,741 (GRCm39)	L294P	probably benign	Het
Pramel51	T	C	12: 88,144,357 (GRCm39)	H152R	possibly damaging	Het
Ptprn2	T	A	12: 116,835,658 (GRCm39)	I331K	probably benign	Het
Ptpro	T	G	6: 137,370,673 (GRCm39)	Y591*	probably null	Het
Ptprz1	T	A	6: 23,001,516 (GRCm39)	L1202*	probably null	Het
Rab37	A	G	11: 115,048,789 (GRCm39)	T73A	probably benign	Het
Rad51ap2	T	G	12: 11,508,161 (GRCm39)	S694R	possibly damaging	Het
Rb1cc1	T	A	1: 6,340,951 (GRCm39)	D148E	probably damaging	Het
Serpinf2	A	G	11: 75,328,329 (GRCm39)	V73A	probably benign	Het
Siglec1	T	C	2: 130,923,227 (GRCm39)	N506S	probably damaging	Het
Slc35e4	T	C	11: 3,862,602 (GRCm39)	T196A	possibly damaging	Het
St6galnac3	C	T	3: 153,117,394 (GRCm39)	A110T	probably damaging	Het
Thsd1	T	C	8: 22,733,733 (GRCm39)	V260A	probably benign	Het
Tpbg	T	A	9: 85,726,538 (GRCm39)	V169D	possibly damaging	Het
Trav16n	A	G	14: 53,589,042 (GRCm39)	E106G	probably benign	Het
Vmn1r219	T	C	13: 23,347,135 (GRCm39)	I108T	probably benign	Het
Vmn2r50	T	C	7: 9,771,644 (GRCm39)	I686V	probably damaging	Het
Zdhhc20	C	T	14: 58,078,289 (GRCm39)	R329K	probably benign	Het
Zfp64	A	G	2: 168,777,129 (GRCm39)		probably null	Het
Zfp941	C	T	7: 140,392,663 (GRCm39)	R232H	probably benign	Het

Other mutations in Rraga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03197:Rraga	APN	4	86,494,513 (GRCm39)	missense	probably damaging	0.98
workings	UTSW	4	86,494,796 (GRCm39)	missense	probably damaging	1.00
I2289:Rraga	UTSW	4	86,494,522 (GRCm39)	missense	probably damaging	1.00
R0612:Rraga	UTSW	4	86,494,564 (GRCm39)	missense	probably damaging	1.00
R0624:Rraga	UTSW	4	86,494,454 (GRCm39)	missense	probably benign	0.00
R1477:Rraga	UTSW	4	86,494,996 (GRCm39)	missense	probably benign
R1804:Rraga	UTSW	4	86,494,681 (GRCm39)	missense	probably damaging	0.99
R4167:Rraga	UTSW	4	86,494,304 (GRCm39)	missense	possibly damaging	0.95
R7153:Rraga	UTSW	4	86,494,253 (GRCm39)	missense	probably damaging	1.00
R8039:Rraga	UTSW	4	86,494,217 (GRCm39)	missense	probably damaging	1.00
R8686:Rraga	UTSW	4	86,495,048 (GRCm39)	missense	probably damaging	0.96
R9007:Rraga	UTSW	4	86,494,675 (GRCm39)	missense	probably damaging	1.00
R9144:Rraga	UTSW	4	86,494,796 (GRCm39)	missense	probably damaging	1.00
R9666:Rraga	UTSW	4	86,494,574 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATTACTTCACCAGCCAGCG -3'
(R):5'- AGCAGAACTTCATCAGCCTC -3'

Sequencing Primer
(F):5'- CGGGACAACATCTTCCGTAATGTG -3'
(R):5'- TCATCAGCCTCAATAATCTGGG -3'

Posted On

2018-06-06