Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Ralbp1'

574064

Institutional Source

Beutler Lab

Gene Symbol

Ralbp1

Ensembl Gene

ENSMUSG00000024096

Gene Name

ralA binding protein 1

Synonyms

RLIP76, Rip1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.563) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65848433-65885755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65854148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 467 (V467I)

Ref Sequence

ENSEMBL: ENSMUSP00000024905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024905] [ENSMUST00000166543]

AlphaFold

Q62172

Predicted Effect

probably benign
Transcript: ENSMUST00000024905
AA Change: V467I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: V467I

Domain	Start	End	E-Value	Type
low complexity region	63	80	N/A	INTRINSIC
low complexity region	112	152	N/A	INTRINSIC
low complexity region	159	180	N/A	INTRINSIC
RhoGAP	207	373	1.04e-60	SMART
Blast:RhoGAP	391	493	1e-48	BLAST
low complexity region	533	551	N/A	INTRINSIC
low complexity region	587	598	N/A	INTRINSIC
low complexity region	602	621	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166543
AA Change: V467I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: V467I

Domain	Start	End	E-Value	Type
low complexity region	63	80	N/A	INTRINSIC
low complexity region	112	152	N/A	INTRINSIC
low complexity region	159	180	N/A	INTRINSIC
RhoGAP	207	373	1.04e-60	SMART
Blast:RhoGAP	391	493	1e-48	BLAST
low complexity region	533	551	N/A	INTRINSIC
low complexity region	587	598	N/A	INTRINSIC
low complexity region	602	621	N/A	INTRINSIC

Meta Mutation Damage Score

0.1301

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous and heterozygous null mice display increased sensitivity to X-ray irradiation, increased oxidative stress, and impaired glutathione homeostasis. Mice homozygous for a gene trap insertion exhibit decreases in exploratory and locomotor activity and a decreased sensitivity to pain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466		probably null	Het
Arfgef1	T	A	1: 10,180,897	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
C87499	C	A	4: 88,627,965	R380L	probably benign	Het
Cdc25b	A	G	2: 131,194,654	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483	H639N	probably damaging	Het
Dnah11	T	G	12: 118,027,477	T2385P	probably benign	Het
Dnah11	T	C	12: 118,125,785	E1182G	probably damaging	Het
Dok7	T	C	5: 35,066,471	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Hnmt	T	A	2: 24,003,880	T201S	probably benign	Het
Jup	G	T	11: 100,378,351	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090	D239N		Het
Mgam	T	A	6: 40,666,854	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676	I1032N	probably damaging	Het
Olfr1002	T	A	2: 85,647,424	D299V	possibly damaging	Het
Olfr1100	G	A	2: 86,978,157	T213I	probably benign	Het
Olfr1170	A	T	2: 88,225,022	Y3*	probably null	Het
Olfr1450	A	G	19: 12,954,447	N286S	probably damaging	Het
Olfr449	T	G	6: 42,838,746	Y288*	probably null	Het
Olfr455	A	G	6: 42,538,728	F98S	possibly damaging	Het
Olfr617	A	T	7: 103,584,381	I120L	possibly damaging	Het
Olfr782	A	T	10: 129,350,557		probably benign	Het
Olfr996	A	G	2: 85,579,296	D19G	probably benign	Het
Oog2	A	G	4: 144,195,281	K254E	probably benign	Het
Osbpl11	T	A	16: 33,236,279	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376	F272S	probably damaging	Het
Ptgdr	A	T	14: 44,858,232		probably null	Het
Ptprf	C	T	4: 118,226,523	V788I	probably benign	Het
Ralgds	A	C	2: 28,543,655	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286		probably null	Het
Scn5a	A	T	9: 119,486,530	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068	C538S	probably benign	Het
Spert	A	G	14: 75,592,637	S39P	probably benign	Het
Stard6	T	C	18: 70,498,647		probably null	Het
Strip2	T	A	6: 29,927,613	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657		probably benign	Het
Vmn1r42	T	C	6: 89,845,513	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503		probably null	Het
Wdfy4	A	C	14: 33,068,906	V2188G		Het
Zfp623	T	C	15: 75,947,398	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053	V536L	probably damaging	Het

Other mutations in Ralbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Ralbp1	APN	17	65864612	missense	possibly damaging	0.87
IGL00736:Ralbp1	APN	17	65864723	missense	probably damaging	1.00
IGL01318:Ralbp1	APN	17	65864282	missense	probably damaging	1.00
IGL01661:Ralbp1	APN	17	65861389	missense	probably damaging	0.99
IGL02523:Ralbp1	APN	17	65859091	missense	probably damaging	0.99
R0507:Ralbp1	UTSW	17	65849960	missense	probably benign	0.08
R0666:Ralbp1	UTSW	17	65854129	missense	probably benign	0.28
R0674:Ralbp1	UTSW	17	65852753	missense	probably benign	0.28
R1418:Ralbp1	UTSW	17	65859148	splice site	probably benign
R2136:Ralbp1	UTSW	17	65864666	missense	probably damaging	1.00
R2320:Ralbp1	UTSW	17	65852747	missense	possibly damaging	0.71
R4657:Ralbp1	UTSW	17	65852691	missense	probably null	0.99
R5482:Ralbp1	UTSW	17	65861568	nonsense	probably null
R5545:Ralbp1	UTSW	17	65850104	missense	possibly damaging	0.77
R5967:Ralbp1	UTSW	17	65864279	missense	probably benign	0.19
R6512:Ralbp1	UTSW	17	65861275	missense	probably damaging	1.00
R6853:Ralbp1	UTSW	17	65852756	missense	possibly damaging	0.86
R7423:Ralbp1	UTSW	17	65858981	missense	probably damaging	0.99
R7545:Ralbp1	UTSW	17	65867598	missense	probably benign
R8394:Ralbp1	UTSW	17	65852753	missense	probably benign	0.28
R8755:Ralbp1	UTSW	17	65859041	missense	possibly damaging	0.91
R9425:Ralbp1	UTSW	17	65864511	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AGAAGGCAGCTTCTTTCTCC -3'
(R):5'- CGGTCATCATTACAGACAGTTCC -3'

Sequencing Primer
(F):5'- CACACACAGCACAAGGGTAGG -3'
(R):5'- AGTTCCCTACTGCTGCTGGG -3'

Posted On

2019-09-13