Mutagenetix > Incidental Mutation

Incidental Mutation 'R6679:Rbm24'

527399

Institutional Source

Beutler Lab

Gene Symbol

Rbm24

Ensembl Gene

ENSMUSG00000038132

Gene Name

RNA binding motif protein 24

Synonyms

6330546B05Rik

MMRRC Submission

044798-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R6679 (G1)

Quality Score

139.008

Status

Not validated

Chromosome

Chromosomal Location

46571910-46584571 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 46572468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037923]

AlphaFold

D3Z4I3

Predicted Effect

probably benign
Transcript: ENSMUST00000037923

SMART Domains

Protein: ENSMUSP00000043120
Gene: ENSMUSG00000038132

Domain	Start	End	E-Value	Type
RRM	12	84	1.48e-26	SMART
low complexity region	155	185	N/A	INTRINSIC
low complexity region	203	221	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225890

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

91% (40/44)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E12.5 and E13.5 with embryonic growth retardation, thin and unfused atrioventricular cushions, reduced myocardial trabeculation and increased apoptosis in the heart. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,441,750 (GRCm39)	V299E	probably damaging	Het
Adgrb3	T	C	1: 25,170,377 (GRCm39)	I767V	probably benign	Het
Ahnak2	G	A	12: 112,739,410 (GRCm39)	T748I	probably damaging	Het
Aoc3	T	A	11: 101,222,279 (GRCm39)	L129M	probably damaging	Het
Arhgef7	T	A	8: 11,874,667 (GRCm39)	M540K	possibly damaging	Het
Bod1l	T	A	5: 41,974,009 (GRCm39)	K2435M	probably damaging	Het
Col11a1	A	G	3: 113,946,368 (GRCm39)		probably null	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Creb5	G	T	6: 53,662,454 (GRCm39)	M250I	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dock10	A	G	1: 80,544,514 (GRCm39)	I557T	probably benign	Het
Efcab2	G	A	1: 178,264,969 (GRCm39)	A12T	probably benign	Het
Ehd1	A	G	19: 6,344,474 (GRCm39)	N245D	probably benign	Het
Erich3	T	A	3: 154,468,066 (GRCm39)	D839E	possibly damaging	Het
Fam13b	T	C	18: 34,620,075 (GRCm39)	T270A	possibly damaging	Het
Fat2	A	T	11: 55,200,131 (GRCm39)	L981Q	probably damaging	Het
Fgfrl1	G	A	5: 108,852,838 (GRCm39)	W89*	probably null	Het
Fgfrl1	G	T	5: 108,852,839 (GRCm39)	W89C	probably damaging	Het
Gm10770	G	A	2: 150,021,569 (GRCm39)	P11S	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,494,151 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,077,986 (GRCm39)	V190A	possibly damaging	Het
Htr1a	A	G	13: 105,581,936 (GRCm39)	N392S	probably damaging	Het
Ift43	A	G	12: 86,185,592 (GRCm39)	M59V	probably benign	Het
Jakmip2	T	C	18: 43,699,014 (GRCm39)	T482A	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nme8	A	T	13: 19,875,140 (GRCm39)		probably null	Het
Or5h26	A	G	16: 58,988,209 (GRCm39)	I99T	probably benign	Het
Peg10	CCAACAACAACAACAACAACAACA	CCAACAACAACAACAACAACA	6: 4,754,276 (GRCm39)		probably benign	Het
Plec	A	G	15: 76,058,015 (GRCm39)	F3996S	probably damaging	Het
Ppfia4	A	T	1: 134,237,417 (GRCm39)	Y961N	probably damaging	Het
Rag1	G	A	2: 101,474,629 (GRCm39)	P171L	probably damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rxfp3	T	C	15: 11,035,956 (GRCm39)	Y472C	probably damaging	Het
Sash1	T	A	10: 8,615,949 (GRCm39)	I638F	probably damaging	Het
Sh3glb2	G	A	2: 30,240,631 (GRCm39)	R145W	probably damaging	Het
Ston2	G	T	12: 91,614,870 (GRCm39)	P513T	probably damaging	Het
Sycp2	A	G	2: 178,022,721 (GRCm39)	M470T	probably damaging	Het
Syt10	C	A	15: 89,698,574 (GRCm39)	D257Y	probably damaging	Het
Tcfl5	G	T	2: 180,277,055 (GRCm39)	L447I	probably damaging	Het
Tlr11	T	C	14: 50,600,311 (GRCm39)	W766R	probably benign	Het
Usp33	T	A	3: 152,074,124 (GRCm39)	D19E	possibly damaging	Het
Vmn1r123	T	A	7: 20,896,868 (GRCm39)	Y253*	probably null	Het
Wdr55	G	A	18: 36,896,177 (GRCm39)	G289D	probably damaging	Het
Zfp523	C	T	17: 28,421,194 (GRCm39)	T235M	probably damaging	Het

Other mutations in Rbm24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02265:Rbm24	APN	13	46,573,826 (GRCm39)	missense	possibly damaging	0.89
R0492:Rbm24	UTSW	13	46,573,826 (GRCm39)	missense	probably damaging	0.98
R5713:Rbm24	UTSW	13	46,582,780 (GRCm39)	missense	probably damaging	0.98
R6291:Rbm24	UTSW	13	46,575,313 (GRCm39)	splice site	probably null
R6299:Rbm24	UTSW	13	46,572,549 (GRCm39)	missense	probably damaging	1.00
R7670:Rbm24	UTSW	13	46,582,683 (GRCm39)	missense	probably benign	0.03
R7707:Rbm24	UTSW	13	46,582,605 (GRCm39)	missense	possibly damaging	0.89
R7999:Rbm24	UTSW	13	46,572,507 (GRCm39)	start codon destroyed	possibly damaging	0.96
R8101:Rbm24	UTSW	13	46,582,767 (GRCm39)	nonsense	probably null
R8101:Rbm24	UTSW	13	46,582,444 (GRCm39)	missense	probably benign	0.23
R8350:Rbm24	UTSW	13	46,572,676 (GRCm39)	critical splice donor site	probably null
R8836:Rbm24	UTSW	13	46,582,780 (GRCm39)	missense	probably damaging	0.98
R8979:Rbm24	UTSW	13	46,572,531 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCAAAAGGCTCCCACAGTC -3'
(R):5'- TTACAAATCCGTAGCCCCG -3'

Sequencing Primer
(F):5'- AGCTGGTTACCCGGACGATC -3'
(R):5'- GTCTGCCGGTCTGTGATGAC -3'

Posted On

2018-07-23