Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00736:Ralbp1'

13737

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ralbp1

Ensembl Gene

ENSMUSG00000024096

Gene Name

ralA binding protein 1

Synonyms

RLIP76, Rip1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

IGL00736

Quality Score

Status

Chromosome

Chromosomal Location

65848433-65885755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65864723 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 85 (Y85C)

Ref Sequence

ENSEMBL: ENSMUSP00000129448 (fasta)

Gene Model

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

AlphaFold

Q62172

Predicted Effect

probably damaging
Transcript: ENSMUST00000024905
AA Change: Y85C

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

SMART Domains

Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: Y85C

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 damaging
Transcript: ENSMUST00000166543
AA Change: Y85C

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

SMART Domains

Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: Y85C

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

Coding Region Coverage

Validation Efficiency

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,322,490	L41P	probably damaging	Het
Baz1b	A	G	5: 135,240,032	Y1245C	probably damaging	Het
Dnajb7	T	A	15: 81,407,573	I188F	probably benign	Het
Dpf1	A	T	7: 29,312,908	K18*	probably null	Het
Drosha	T	A	15: 12,833,959	Y50N	unknown	Het
Eif2s1	T	A	12: 78,884,837		probably benign	Het
Gde1	T	C	7: 118,698,702	E97G	probably damaging	Het
Lrrc8c	G	A	5: 105,607,114	V252M	probably damaging	Het
Megf10	G	A	18: 57,292,710	R1056Q	probably benign	Het
Myo3b	A	C	2: 70,105,645		probably benign	Het
Serpini2	C	T	3: 75,267,809	M58I	possibly damaging	Het
Skor1	C	A	9: 63,139,538	Q892H	probably damaging	Het
Slc22a26	T	C	19: 7,790,162	Q292R	possibly damaging	Het
Smc1b	T	C	15: 85,129,700	E90G	possibly damaging	Het
Zmym2	T	C	14: 56,903,211	V169A	probably benign	Het

Other mutations in Ralbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Ralbp1	APN	17	65864612	missense	possibly damaging	0.87
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
R7399:Ralbp1	UTSW	17	65854148	missense	probably benign	0.01
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

Posted On

2012-12-06