Mutagenetix > Incidental Mutation

Incidental Mutation 'R5482:Ralbp1'

434409

Institutional Source

Beutler Lab

Gene Symbol

Ralbp1

Ensembl Gene

ENSMUSG00000024096

Gene Name

ralA binding protein 1

Synonyms

RLIP76, Rip1

MMRRC Submission

043043-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.612) question?

Stock #

R5482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66155410-66192750 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 66168563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 247 (Y247*)

Ref Sequence

ENSEMBL: ENSMUSP00000129448 (fasta)

Gene Model

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

AlphaFold

Q62172

Predicted Effect

probably null
Transcript: ENSMUST00000024905
AA Change: Y247*

SMART Domains

Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: Y247*

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 null
Transcript: ENSMUST00000166543
AA Change: Y247*

SMART Domains

Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: Y247*

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

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.4%
10x: 94.5%
20x: 87.6%

Validation Efficiency

99% (68/69)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230109A22Rik	T	C	15: 25,139,036 (GRCm39)		noncoding transcript	Het
Abca15	T	C	7: 119,968,370 (GRCm39)	L801P	probably damaging	Het
Acap3	A	G	4: 155,984,613 (GRCm39)	D212G	probably benign	Het
Acsl6	G	A	11: 54,217,964 (GRCm39)	D166N	probably damaging	Het
Acy1	T	C	9: 106,311,838 (GRCm39)		probably benign	Het
Adgrl3	A	G	5: 81,942,360 (GRCm39)	N1368S	probably damaging	Het
Akap5	T	C	12: 76,375,600 (GRCm39)	I344T	probably benign	Het
Aplp1	A	G	7: 30,139,600 (GRCm39)	F399S	probably damaging	Het
Arap3	A	G	18: 38,107,727 (GRCm39)	S1302P	possibly damaging	Het
Bik	T	G	15: 83,428,335 (GRCm39)	V121G	probably damaging	Het
Birc6	A	T	17: 74,948,777 (GRCm39)	M3069L	possibly damaging	Het
Birc6	A	G	17: 74,969,685 (GRCm39)	T4237A	probably damaging	Het
Btn2a2	T	C	13: 23,670,557 (GRCm39)	N59D	probably benign	Het
Cabyr	A	G	18: 12,884,496 (GRCm39)	S328G	possibly damaging	Het
Cfap57	C	T	4: 118,426,838 (GRCm39)	G1067R	probably benign	Het
Cryl1	A	T	14: 57,550,469 (GRCm39)	F132I	probably damaging	Het
Dipk1a	C	G	5: 108,057,529 (GRCm39)	C343S	probably damaging	Het
Dnah8	G	A	17: 31,019,521 (GRCm39)	E3865K	probably damaging	Het
Dock3	G	A	9: 106,855,937 (GRCm39)	R741*	probably null	Het
Fsip2	C	T	2: 82,815,654 (GRCm39)	L3796F	possibly damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm5535	C	A	2: 144,016,492 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,695,055 (GRCm39)	M202K	probably damaging	Het
Hecw2	T	A	1: 53,965,360 (GRCm39)	M489L	probably benign	Het
Lrrk1	A	G	7: 65,980,418 (GRCm39)	I254T	probably benign	Het
Lrrn3	G	A	12: 41,502,386 (GRCm39)	L644F	probably benign	Het
Lrrn3	A	C	12: 41,502,387 (GRCm39)	C643W	probably damaging	Het
Nr2f6	A	T	8: 71,827,182 (GRCm39)	I373N	probably damaging	Het
Nt5dc3	A	G	10: 86,647,395 (GRCm39)	Y130C	probably damaging	Het
Or5b12	T	C	19: 12,897,269 (GRCm39)	T135A	probably damaging	Het
Or6c3	T	C	10: 129,308,947 (GRCm39)	Y129H	probably benign	Het
Otogl	T	A	10: 107,657,802 (GRCm39)	I1043F	probably damaging	Het
Padi3	G	A	4: 140,523,154 (GRCm39)	T302I	probably damaging	Het
Pcdhgb5	A	G	18: 37,864,585 (GRCm39)	N127D	probably damaging	Het
Pign	A	G	1: 105,474,435 (GRCm39)	F876L	probably benign	Het
Pip5k1c	A	G	10: 81,128,897 (GRCm39)	E2G	probably damaging	Het
Ppp1r18	G	A	17: 36,184,771 (GRCm39)	E141K	probably damaging	Het
Ripply2	A	G	9: 86,897,620 (GRCm39)	E8G	possibly damaging	Het
Rufy3	TAAGCA	TA	5: 88,785,191 (GRCm39)		probably null	Het
Skint2	T	G	4: 112,483,076 (GRCm39)	C160W	probably damaging	Het
Sun2	C	T	15: 79,621,712 (GRCm39)	R172Q	probably benign	Het
Syna	A	G	5: 134,588,028 (GRCm39)	L307P	possibly damaging	Het
Tlcd3b	A	G	7: 126,426,660 (GRCm39)	T78A	possibly damaging	Het
Trappc12	T	C	12: 28,741,324 (GRCm39)	K795R	probably damaging	Het
Trmt9b	A	T	8: 36,979,203 (GRCm39)	M269L	probably benign	Het
Ttll11	A	G	2: 35,642,418 (GRCm39)	S638P	probably damaging	Het
Usp2	G	A	9: 44,000,480 (GRCm39)		probably null	Het
Vmn2r26	A	T	6: 124,038,285 (GRCm39)	E620V	possibly damaging	Het
Wdr36	A	T	18: 32,974,957 (GRCm39)	H103L	probably benign	Het
Wnt5b	T	C	6: 119,423,392 (GRCm39)	T78A	probably benign	Het
Zc2hc1b	C	T	10: 13,029,270 (GRCm39)	R146Q	probably damaging	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
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
R6853:Ralbp1	UTSW	17	66,159,751 (GRCm39)	missense	possibly damaging	0.86
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'- ATGATTGCACTCCGGCAGTTC -3'
(R):5'- CATGGATTCTACCAGGACGG -3'

Sequencing Primer
(F):5'- AGTTCCCGGAGCAAGCG -3'
(R):5'- CCCAGATTATCAGACTTGAGCTGG -3'

Posted On

2016-10-06