Mutagenetix > Incidental Mutation

Incidental Mutation 'R9425:Ralbp1'

712596

Institutional Source

Beutler Lab

Gene Symbol

Ralbp1

Ensembl Gene

ENSMUSG00000024096

Gene Name

ralA binding protein 1

Synonyms

RLIP76, Rip1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.612) question?

Stock #

R9425 (G1)

Quality Score

165.009

Status

Not validated

Chromosome

Chromosomal Location

66155410-66192750 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66171506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 156 (A156S)

Ref Sequence

ENSEMBL: ENSMUSP00000024905 (fasta)

Gene Model

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

AlphaFold

Q62172

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024905
AA Change: A156S

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000024905
Gene: ENSMUSG00000024096
AA Change: A156S

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: A156S

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129448
Gene: ENSMUSG00000024096
AA Change: A156S

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: 99.7%
20x: 98.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,926,344 (GRCm39)	S1260T	probably damaging	Het
Adgra2	A	G	8: 27,576,094 (GRCm39)	I41V	probably benign	Het
Adgrf1	A	G	17: 43,621,274 (GRCm39)	I504V	possibly damaging	Het
Agtrap	A	G	4: 148,165,019 (GRCm39)	I136T	probably damaging	Het
Arhgef7	C	T	8: 11,867,736 (GRCm39)	T601I	probably damaging	Het
Asb7	T	C	7: 66,328,987 (GRCm39)	I18V	possibly damaging	Het
C1rl	T	C	6: 124,485,322 (GRCm39)	V231A	probably benign	Het
Cachd1	A	T	4: 100,832,057 (GRCm39)	T740S	probably benign	Het
Ccdc146	T	A	5: 21,508,135 (GRCm39)	I638F	probably damaging	Het
Ccser2	T	C	14: 36,601,163 (GRCm39)	N407S	probably benign	Het
Clec7a	G	A	6: 129,442,514 (GRCm39)	S126L	probably damaging	Het
Copb1	C	T	7: 113,848,182 (GRCm39)	G118R	probably damaging	Het
Cpne3	A	T	4: 19,525,148 (GRCm39)	M449K	probably damaging	Het
Cttnbp2	A	T	6: 18,423,880 (GRCm39)	C815S	probably damaging	Het
Cyp27b1	T	C	10: 126,886,006 (GRCm39)	L253P	probably damaging	Het
Cyp3a44	C	A	5: 145,740,548 (GRCm39)	G31*	probably null	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dmgdh	A	T	13: 93,880,813 (GRCm39)	I748L	probably benign	Het
Drc1	T	A	5: 30,502,938 (GRCm39)	W154R	probably benign	Het
E330034G19Rik	T	A	14: 24,358,387 (GRCm39)		probably null	Het
Gbp7	T	A	3: 142,248,718 (GRCm39)	V327E	probably damaging	Het
Gm11564	G	A	11: 99,706,065 (GRCm39)	P122S	unknown	Het
Grid2ip	C	A	5: 143,367,435 (GRCm39)	S615R		Het
Kcp	T	A	6: 29,489,151 (GRCm39)	Q1045L	probably benign	Het
Lgals3bp	T	A	11: 118,284,751 (GRCm39)	E276V	probably damaging	Het
Lrit1	T	C	14: 36,784,208 (GRCm39)	V512A	possibly damaging	Het
Mecom	T	A	3: 30,039,597 (GRCm39)	H154L	probably benign	Het
Mmp14	C	A	14: 54,677,804 (GRCm39)	T475K	probably damaging	Het
Mmp1a	T	G	9: 7,476,210 (GRCm39)	F436V	probably damaging	Het
Notch4	A	G	17: 34,795,801 (GRCm39)	S830G	probably benign	Het
Oas1b	T	C	5: 120,955,693 (GRCm39)	L158P	probably benign	Het
Odf4	A	G	11: 68,813,810 (GRCm39)	V126A	probably benign	Het
Olfml2a	A	G	2: 38,847,721 (GRCm39)	T427A	probably damaging	Het
Or2b28	A	G	13: 21,531,473 (GRCm39)	Y125C	probably damaging	Het
Or4c102	C	A	2: 88,422,877 (GRCm39)	T243K	probably damaging	Het
Or5b121	C	T	19: 13,507,222 (GRCm39)	L106F	probably damaging	Het
Or6d12	G	A	6: 116,493,574 (GRCm39)	E279K	possibly damaging	Het
Or8b42	A	G	9: 38,342,286 (GRCm39)	K236R	possibly damaging	Het
Panx3	G	A	9: 37,572,393 (GRCm39)	H386Y	probably benign	Het
Papss1	C	A	3: 131,270,708 (GRCm39)	C8*	probably null	Het
Papss2	G	T	19: 32,615,750 (GRCm39)	V161L	possibly damaging	Het
Pcdh18	G	T	3: 49,709,051 (GRCm39)	H755N	possibly damaging	Het
Pilrb2	G	C	5: 137,866,964 (GRCm39)	H180D	probably benign	Het
Pla2g4f	T	C	2: 120,133,264 (GRCm39)	D645G	possibly damaging	Het
Pnlip	A	T	19: 58,669,290 (GRCm39)	K430*	probably null	Het
Rnf4	C	T	5: 34,508,641 (GRCm39)	R168C	probably benign	Het
Slc17a5	C	T	9: 78,484,457 (GRCm39)	G127E	probably damaging	Het
Slc22a27	A	T	19: 7,874,156 (GRCm39)	N306K	probably damaging	Het
Slc5a9	G	A	4: 111,734,803 (GRCm39)	R664C	probably damaging	Het
Slco1b2	T	A	6: 141,603,249 (GRCm39)	I210K	possibly damaging	Het
Snx16	C	T	3: 10,499,520 (GRCm39)	R170H	probably damaging	Het
Speer4e1	T	C	5: 14,987,136 (GRCm39)	I90V	possibly damaging	Het
Stxbp5l	T	C	16: 36,994,706 (GRCm39)	D733G	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,382 (GRCm39)	V254A	probably benign	Het
Tmf1	A	G	6: 97,149,293 (GRCm39)	F485L	probably benign	Het
Tnks	G	A	8: 35,340,819 (GRCm39)	L396F	probably damaging	Het
Trabd	T	C	15: 88,969,496 (GRCm39)	C230R	probably damaging	Het
Trp53rkb	C	T	2: 166,637,542 (GRCm39)	A166V	probably benign	Het
Upf1	A	T	8: 70,792,003 (GRCm39)	D418E	probably benign	Het
Ust	A	C	10: 8,205,873 (GRCm39)	S137A	probably damaging	Het
Zfp513	T	A	5: 31,357,695 (GRCm39)	H228L	possibly damaging	Het
Zfp827	C	A	8: 79,905,588 (GRCm39)	A855E	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGACGCCTTCACACTTCATGC -3'
(R):5'- GCTGAAAGTCCTTCCAAGGTG -3'

Sequencing Primer
(F):5'- TGTAGTCCACACACTCCCGG -3'
(R):5'- TCCTTCCAAGGTGAAGAGGTC -3'

Posted On

2022-05-16