Mutagenetix > Incidental Mutation

Incidental Mutation 'R6853:Ralbp1'

535119

Institutional Source

Beutler Lab

Gene Symbol

Ralbp1

Ensembl Gene

ENSMUSG00000024096

Gene Name

ralA binding protein 1

Synonyms

RLIP76, Rip1

MMRRC Submission

044956-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.708) question?

Stock #

R6853 (G1)

Quality Score

80.0075

Status

Validated

Chromosome

Chromosomal Location

66155410-66192750 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66159751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 504 (R504H)

Ref Sequence

ENSEMBL: ENSMUSP00000129448 (fasta)

Gene Model

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

AlphaFold

Q62172

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024905
AA Change: R504H

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: R504H

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

possibly damaging
Transcript: ENSMUST00000166543
AA Change: R504H

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: R504H

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	G	T	15: 12,818,031 (GRCm39)	D138E	probably benign	Het
Atp13a5	A	G	16: 29,140,480 (GRCm39)	S359P	possibly damaging	Het
Bcam	T	C	7: 19,494,331 (GRCm39)	D355G	probably damaging	Het
Bmp8a	C	A	4: 123,236,476 (GRCm39)	W9L	unknown	Het
Cacul1	A	T	19: 60,517,904 (GRCm39)	Y334*	probably null	Het
Ccdc178	A	T	18: 22,242,933 (GRCm39)	N227K	probably benign	Het
Ceacam2	T	C	7: 25,217,561 (GRCm39)	N318S	possibly damaging	Het
Cntrl	T	A	2: 35,019,833 (GRCm39)	S553R	possibly damaging	Het
Ctsa	T	A	2: 164,679,284 (GRCm39)	M331K	probably benign	Het
Cyp2c38	T	A	19: 39,426,748 (GRCm39)	Q184H	probably benign	Het
Cyp2c70	C	T	19: 40,172,364 (GRCm39)	E93K	possibly damaging	Het
D430041D05Rik	C	T	2: 104,071,500 (GRCm39)	V1267M	probably damaging	Het
Ddias	C	T	7: 92,508,773 (GRCm39)	A381T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,935 (GRCm39)	C2696Y	probably benign	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Farp2	T	C	1: 93,497,738 (GRCm39)	F256S	probably damaging	Het
Fga	A	G	3: 82,938,219 (GRCm39)	Y198C	probably damaging	Het
Gabpa	T	A	16: 84,657,387 (GRCm39)	C421S	probably damaging	Het
Gm21798	A	T	15: 64,689,714 (GRCm39)		probably benign	Het
Gm21798	A	T	15: 64,689,716 (GRCm39)		probably benign	Het
Gm7145	A	C	1: 117,913,874 (GRCm39)	N252T	possibly damaging	Het
H2-Q6	T	C	17: 35,647,335 (GRCm39)	*327R	probably null	Het
H6pd	T	C	4: 150,066,919 (GRCm39)	D489G	probably benign	Het
Htra2	A	G	6: 83,030,812 (GRCm39)		probably benign	Het
Ice1	T	G	13: 70,751,421 (GRCm39)	E1555A	possibly damaging	Het
Inpp5d	T	A	1: 87,609,402 (GRCm39)		probably null	Het
Itih2	T	C	2: 10,120,077 (GRCm39)	D320G	probably damaging	Het
Kif1a	T	G	1: 92,967,524 (GRCm39)	H1129P	possibly damaging	Het
Kmt2a	G	A	9: 44,729,704 (GRCm39)		probably benign	Het
L3mbtl4	G	A	17: 69,084,915 (GRCm39)	D609N	probably damaging	Het
Lgals9	A	T	11: 78,856,832 (GRCm39)	D248E	probably benign	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,449,080 (GRCm39)		probably null	Het
Mtus2	A	G	5: 148,043,821 (GRCm39)	K803R	probably damaging	Het
Oas1a	T	A	5: 121,045,491 (GRCm39)	I17L	possibly damaging	Het
Or2h2c	G	A	17: 37,422,400 (GRCm39)	T158I	probably benign	Het
Or5b121	T	A	19: 13,507,295 (GRCm39)	I130K	possibly damaging	Het
Or5k15	C	T	16: 58,710,121 (GRCm39)	S154N	possibly damaging	Het
Or5k15	T	A	16: 58,710,122 (GRCm39)	S154C	probably damaging	Het
Or7g32	T	G	9: 19,408,102 (GRCm39)	Y19*	probably null	Het
Otof	T	C	5: 30,545,583 (GRCm39)	D539G	probably damaging	Het
Pabpc4	T	C	4: 123,188,536 (GRCm39)	Y382H	possibly damaging	Het
Rag1	T	C	2: 101,472,566 (GRCm39)	T859A	probably damaging	Het
Sdk2	A	G	11: 113,671,755 (GRCm39)	F2131S	probably damaging	Het
Sik1	A	T	17: 32,073,180 (GRCm39)		probably null	Het
Sis	A	G	3: 72,798,759 (GRCm39)	I1763T	possibly damaging	Het
Slc39a6	A	G	18: 24,732,376 (GRCm39)	I304T	possibly damaging	Het
Slc5a12	A	G	2: 110,454,539 (GRCm39)	S367G	probably benign	Het
Smchd1	A	T	17: 71,743,738 (GRCm39)	W476R	probably damaging	Het
Spag17	T	C	3: 99,920,551 (GRCm39)	Y429H	possibly damaging	Het
Stt3a	G	A	9: 36,653,023 (GRCm39)	S553F	possibly damaging	Het
Sult2a1	C	T	7: 13,535,412 (GRCm39)	V214I	possibly damaging	Het
Supt6	T	C	11: 78,123,656 (GRCm39)	E38G	possibly damaging	Het
Tenm4	G	A	7: 96,486,502 (GRCm39)	G990R	possibly damaging	Het
Thop1	T	C	10: 80,911,495 (GRCm39)		probably null	Het
Thumpd2	C	A	17: 81,372,459 (GRCm39)	D11Y	possibly damaging	Het
Tmf1	T	G	6: 97,145,810 (GRCm39)	I574L	probably damaging	Het
Tnfaip3	A	G	10: 18,879,499 (GRCm39)	V623A	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ush2a	T	G	1: 188,643,434 (GRCm39)	Y4265*	probably null	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,240,771 (GRCm39)	L114Q	probably damaging	Het
Vmn2r98	A	T	17: 19,286,063 (GRCm39)	Y187F	probably benign	Het

Other mutations in Ralbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Ralbp1	APN	17	66,171,607 (GRCm39)	missense	possibly damaging	0.87
IGL00736:Ralbp1	APN	17	66,171,718 (GRCm39)	missense	probably damaging	1.00
IGL01318:Ralbp1	APN	17	66,171,277 (GRCm39)	missense	probably damaging	1.00
IGL01661:Ralbp1	APN	17	66,168,384 (GRCm39)	missense	probably damaging	0.99
IGL02523:Ralbp1	APN	17	66,166,086 (GRCm39)	missense	probably damaging	0.99
R0507:Ralbp1	UTSW	17	66,156,955 (GRCm39)	missense	probably benign	0.08
R0666:Ralbp1	UTSW	17	66,161,124 (GRCm39)	missense	probably benign	0.28
R0674:Ralbp1	UTSW	17	66,159,748 (GRCm39)	missense	probably benign	0.28
R1418:Ralbp1	UTSW	17	66,166,143 (GRCm39)	splice site	probably benign
R2136:Ralbp1	UTSW	17	66,171,661 (GRCm39)	missense	probably damaging	1.00
R2320:Ralbp1	UTSW	17	66,159,742 (GRCm39)	missense	possibly damaging	0.71
R4657:Ralbp1	UTSW	17	66,159,686 (GRCm39)	missense	probably null	0.99
R5482:Ralbp1	UTSW	17	66,168,563 (GRCm39)	nonsense	probably null
R5545:Ralbp1	UTSW	17	66,157,099 (GRCm39)	missense	possibly damaging	0.77
R5967:Ralbp1	UTSW	17	66,171,274 (GRCm39)	missense	probably benign	0.19
R6512:Ralbp1	UTSW	17	66,168,270 (GRCm39)	missense	probably damaging	1.00
R7399:Ralbp1	UTSW	17	66,161,143 (GRCm39)	missense	probably benign	0.01
R7423:Ralbp1	UTSW	17	66,165,976 (GRCm39)	missense	probably damaging	0.99
R7545:Ralbp1	UTSW	17	66,174,593 (GRCm39)	missense	probably benign
R8394:Ralbp1	UTSW	17	66,159,748 (GRCm39)	missense	probably benign	0.28
R8755:Ralbp1	UTSW	17	66,166,036 (GRCm39)	missense	possibly damaging	0.91
R9425:Ralbp1	UTSW	17	66,171,506 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CCCAGTTCTTTCCAGGAATGTC -3'
(R):5'- ATTCTGAGACAGTGGCATGG -3'

Sequencing Primer
(F):5'- AACCTGTGGGTCACAAGCTCTATG -3'
(R):5'- ATTCTGAGACAGTGGCATGGTTTTG -3'

Posted On

2018-09-12