Mutagenetix > Incidental Mutation

Incidental Mutation 'R0594:Rbm19'

56100

Institutional Source

Beutler Lab

Gene Symbol

Rbm19

Ensembl Gene

ENSMUSG00000029594

Gene Name

RNA binding motif protein 19

Synonyms

1200009A02Rik

MMRRC Submission

038784-MU

Accession Numbers

Genbank: NM_028762 ; MGI: 1921361

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0594 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

120116465-120198981 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 120128316 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031590] [ENSMUST00000202777]

AlphaFold

Q8R3C6

PDB Structure

Solution structure of the N-terminal RNA binding domain from hypothetical protein BAB23448 [SOLUTION NMR]
Solution structure of the second RNA binding domain from hypothetical protein BAB23448 [SOLUTION NMR]
Solution structure of the penultimate RNA recognition motif of hypothetical RNA-binding protein RBM19 [SOLUTION NMR]
Solution structure of the C-terminal RNA recognition motif of hypothetical RNA-binding protein RBM19 [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000031590

SMART Domains

Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594

Domain	Start	End	E-Value	Type
RRM	3	75	7.64e-20	SMART
Pfam:RRM_u2	81	277	1.7e-10	PFAM
RRM	294	364	9.14e-9	SMART
RRM	401	474	6.4e-22	SMART
RRM	585	652	1.6e-4	SMART
coiled coil region	694	717	N/A	INTRINSIC
RRM	723	799	4.59e-23	SMART
RRM	825	900	9.4e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181905

Predicted Effect

probably benign
Transcript: ENSMUST00000202777

SMART Domains

Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594

Domain	Start	End	E-Value	Type
RRM	3	75	3.3e-22	SMART
Pfam:RRM_u2	81	269	1.2e-6	PFAM
RRM	294	364	3.9e-11	SMART
RRM	401	474	2.7e-24	SMART
RRM	585	652	7e-7	SMART
coiled coil region	694	717	N/A	INTRINSIC
RRM	723	799	2e-25	SMART
Pfam:RRM_6	826	865	1.1e-3	PFAM
Pfam:RRM_1	826	870	8.5e-6	PFAM

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

99% (119/120)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit failure to undergo compaction, growth arrest at the morula stage, and apoptosis such that no embryos are observed at E6.5. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,389,880	V41A	probably benign	Het
Acad11	A	G	9: 104,095,563	Q367R	probably benign	Het
Ackr4	A	G	9: 104,099,004	V248A	possibly damaging	Het
Adamts14	T	C	10: 61,202,887	E945G	probably damaging	Het
Akap2	A	G	4: 57,856,752	T694A	probably benign	Het
Ano2	A	G	6: 125,982,765	M663V	probably damaging	Het
Apc2	T	A	10: 80,306,256	C336*	probably null	Het
Arhgap17	A	G	7: 123,294,518	S560P	probably benign	Het
Arl5a	T	C	2: 52,405,014	D128G	probably damaging	Het
Atp6v0a2	C	A	5: 124,717,982	R678S	probably benign	Het
B4galnt2	C	A	11: 95,891,909	A26S	probably benign	Het
C1qtnf1	A	T	11: 118,446,628	T95S	possibly damaging	Het
Ccdc188	T	A	16: 18,218,920	F241L	probably benign	Het
Cdh19	A	T	1: 110,925,867	D281E	probably benign	Het
Cdk5rap2	T	C	4: 70,354,813	E241G	probably damaging	Het
Cherp	A	T	8: 72,462,402		probably null	Het
Cpne9	T	A	6: 113,290,400		probably benign	Het
Cthrc1	A	T	15: 39,077,142	R47W	possibly damaging	Het
Dcaf13	A	G	15: 39,123,268	E145G	probably benign	Het
Dcaf4	T	A	12: 83,538,043		probably null	Het
Dgka	A	C	10: 128,733,110		probably benign	Het
Dhrs13	T	A	11: 78,034,525	F157L	probably damaging	Het
Dnajb5	A	T	4: 42,956,577	Y88F	probably damaging	Het
Dpp8	A	G	9: 65,036,998	T16A	probably damaging	Het
Dscc1	A	T	15: 55,089,052	I91K	possibly damaging	Het
Efemp2	T	A	19: 5,475,063		probably benign	Het
Elf2	T	C	3: 51,256,453	T504A	possibly damaging	Het
Elk3	G	A	10: 93,265,160	S243F	probably damaging	Het
Ell2	A	G	13: 75,749,993	D93G	probably damaging	Het
Eln	G	T	5: 134,712,398		probably benign	Het
Eme1	C	T	11: 94,650,430	D189N	possibly damaging	Het
Epb41l2	A	G	10: 25,443,770	E167G	possibly damaging	Het
Exoc5	A	T	14: 49,036,087		probably benign	Het
Fam129c	C	A	8: 71,599,135	A38E	probably benign	Het
Fam170b	A	G	14: 32,836,314	K369E	unknown	Het
Fam187b	T	A	7: 30,977,154	C29*	probably null	Het
Fam20c	T	C	5: 138,766,637	S260P	possibly damaging	Het
Fam216b	G	A	14: 78,086,674	A21V	possibly damaging	Het
Fam98a	A	T	17: 75,538,487	Y421*	probably null	Het
Farp2	T	C	1: 93,576,500	V333A	probably damaging	Het
Fcgr1	T	C	3: 96,292,312	Y93C	probably damaging	Het
Fgd2	A	T	17: 29,365,552	I157F	probably damaging	Het
Frmd4b	T	A	6: 97,325,426		probably benign	Het
Fut9	T	C	4: 25,620,526	D96G	possibly damaging	Het
Glt8d1	G	A	14: 31,010,410		probably null	Het
Gm7579	T	A	7: 142,212,384	C176S	unknown	Het
Gmpr2	A	G	14: 55,677,988	E272G	probably damaging	Het
Grin2b	T	C	6: 135,733,929	H873R	probably damaging	Het
Gtf2i	C	T	5: 134,242,173		probably benign	Het
Htr3b	A	T	9: 48,947,631	V69E	probably benign	Het
Icam5	A	G	9: 21,035,598	N474S	probably benign	Het
Itgal	T	A	7: 127,314,060	S610T	probably damaging	Het
Jag1	T	A	2: 137,087,080	I819L	probably damaging	Het
Kif9	A	T	9: 110,511,340	E467V	probably benign	Het
Krit1	T	C	5: 3,823,694	L491P	possibly damaging	Het
Lipo2	T	G	19: 33,746,902	I155L	possibly damaging	Het
Lmbr1	A	G	5: 29,292,209	F65L	possibly damaging	Het
Lsp1	G	A	7: 142,488,950		probably benign	Het
Marc2	T	C	1: 184,841,339	N121D	probably benign	Het
Mgat5	T	A	1: 127,412,248	D455E	probably damaging	Het
Mical2	A	T	7: 112,318,450	Y338F	probably damaging	Het
Mkl1	G	A	15: 81,017,174	T372I	probably damaging	Het
Mre11a	T	G	9: 14,815,209	S396A	probably benign	Het
Myo3a	C	T	2: 22,544,332		probably benign	Het
Naca	T	C	10: 128,040,355		probably benign	Het
Nav1	A	T	1: 135,467,643	I996K	possibly damaging	Het
Ncbp1	A	G	4: 46,170,551	N742S	probably benign	Het
Ndufaf3	G	A	9: 108,566,923	A2V	probably benign	Het
Ntn5	G	T	7: 45,686,681	A47S	probably damaging	Het
Olfr1122	T	A	2: 87,387,954	I83N	probably damaging	Het
Olfr13	T	A	6: 43,174,607	V207E	possibly damaging	Het
Olfr1502	G	T	19: 13,862,279	C162F	probably benign	Het
Olfr384	G	A	11: 73,603,392	E271K	probably benign	Het
Olfr392	T	C	11: 73,814,617	H155R	probably benign	Het
Olfr777	T	C	10: 129,269,152	Y57C	possibly damaging	Het
Otud7a	T	A	7: 63,727,472	L203*	probably null	Het
Pcdhb13	A	G	18: 37,443,931	Y454C	probably damaging	Het
Pdzph1	C	T	17: 58,954,479	V853M	possibly damaging	Het
Plec	A	G	15: 76,172,253	S4517P	probably damaging	Het
Pm20d2	C	T	4: 33,181,746	E286K	probably damaging	Het
Polr2i	T	A	7: 30,232,745		probably null	Het
Ppp1r12b	A	G	1: 134,776,479	L879P	probably damaging	Het
Prf1	C	A	10: 61,303,722	Y486*	probably null	Het
Qsox2	T	G	2: 26,214,044	T325P	probably damaging	Het
Rab1b	G	T	19: 5,100,656		probably benign	Het
Rhobtb2	A	G	14: 69,793,948	V576A	probably benign	Het
Rnps1	G	A	17: 24,424,437	V215M	probably damaging	Het
Rps11	A	G	7: 45,124,282		probably benign	Het
Serpinb3d	C	T	1: 107,079,347	M210I	probably damaging	Het
Sgsm1	T	C	5: 113,310,562	T17A	probably benign	Het
Slc6a3	A	G	13: 73,538,642	T43A	probably damaging	Het
Sox4	C	G	13: 28,952,904	A40P	probably damaging	Het
Spry2	A	T	14: 105,893,310	D147E	possibly damaging	Het
Stpg1	A	G	4: 135,519,431	N157D	possibly damaging	Het
Sumf1	T	C	6: 108,173,414	D152G	probably benign	Het
Tbr1	T	C	2: 61,811,620	S410P	possibly damaging	Het
Tdrd6	A	G	17: 43,629,383	V258A	probably damaging	Het
Tirap	C	T	9: 35,188,761	G209D	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,861	V134D	probably damaging	Het
Tnr	A	G	1: 159,850,335	T97A	probably benign	Het
Tspan32	T	A	7: 143,015,610	F135L	probably damaging	Het
Ttn	T	C	2: 76,789,056	K16021E	probably damaging	Het
Tusc3	T	A	8: 39,096,968	I251N	probably damaging	Het
Usp38	A	T	8: 81,005,366	I305N	probably damaging	Het
Usp4	T	A	9: 108,370,881		probably null	Het
Usp5	A	T	6: 124,817,424	D764E	probably damaging	Het
Vangl2	A	T	1: 172,004,657	V544E	probably damaging	Het
Vldlr	G	A	19: 27,234,819	V78M	probably damaging	Het
Vmn1r29	T	C	6: 58,307,772	V159A	probably benign	Het
Vmn2r16	T	A	5: 109,363,896	F656L	probably damaging	Het
Wdfy3	T	A	5: 101,906,185	I1590F	possibly damaging	Het
Xpo1	T	A	11: 23,280,402	V263E	probably damaging	Het
Zbtb38	A	G	9: 96,685,954	S1026P	probably damaging	Het
Zfp407	A	T	18: 84,562,567	D140E	possibly damaging	Het
Zfp637	T	A	6: 117,845,686	Y258*	probably null	Het
Zfp951	T	A	5: 104,814,572	Q376L	possibly damaging	Het

Other mutations in Rbm19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Rbm19	APN	5	120143438	splice site	probably benign
IGL01750:Rbm19	APN	5	120118792	missense	probably benign	0.00
IGL01830:Rbm19	APN	5	120124695	missense	possibly damaging	0.95
IGL02028:Rbm19	APN	5	120120236	missense	probably damaging	1.00
IGL02262:Rbm19	APN	5	120143405	missense	probably damaging	0.99
IGL03030:Rbm19	APN	5	120131246	missense	probably damaging	1.00
IGL03094:Rbm19	APN	5	120122958	missense	probably damaging	1.00
N/A:Rbm19	UTSW	5	120144097	missense	probably damaging	0.99
PIT4812001:Rbm19	UTSW	5	120128250	missense	possibly damaging	0.91
R0190:Rbm19	UTSW	5	120144046	missense	probably benign	0.30
R0350:Rbm19	UTSW	5	120128307	missense	possibly damaging	0.75
R0924:Rbm19	UTSW	5	120126204	missense	probably benign	0.11
R0930:Rbm19	UTSW	5	120126204	missense	probably benign	0.11
R0963:Rbm19	UTSW	5	120130734	missense	possibly damaging	0.83
R1144:Rbm19	UTSW	5	120123016	missense	possibly damaging	0.87
R1438:Rbm19	UTSW	5	120122896	missense	probably benign	0.01
R1441:Rbm19	UTSW	5	120131176	missense	probably damaging	1.00
R1458:Rbm19	UTSW	5	120144029	missense	probably benign	0.00
R1518:Rbm19	UTSW	5	120140280	small deletion	probably benign
R1992:Rbm19	UTSW	5	120133883	critical splice donor site	probably null
R2029:Rbm19	UTSW	5	120120242	missense	possibly damaging	0.85
R3055:Rbm19	UTSW	5	120133010	missense	probably damaging	1.00
R4356:Rbm19	UTSW	5	120140362	missense	possibly damaging	0.72
R4808:Rbm19	UTSW	5	120118774	missense	probably damaging	0.99
R4817:Rbm19	UTSW	5	120133734	intron	probably benign
R4857:Rbm19	UTSW	5	120132833	splice site	probably benign
R4963:Rbm19	UTSW	5	120141566	missense	probably damaging	1.00
R5812:Rbm19	UTSW	5	120141577	missense	probably damaging	1.00
R5857:Rbm19	UTSW	5	120132942	missense	probably damaging	1.00
R5878:Rbm19	UTSW	5	120132867	missense	probably damaging	1.00
R5976:Rbm19	UTSW	5	120140307	missense	probably benign	0.01
R6345:Rbm19	UTSW	5	120127040	missense	possibly damaging	0.87
R6489:Rbm19	UTSW	5	120120130	missense	probably benign	0.06
R6495:Rbm19	UTSW	5	120119680	missense	probably damaging	1.00
R7081:Rbm19	UTSW	5	120123151	critical splice donor site	probably null
R7181:Rbm19	UTSW	5	120116467	unclassified	probably benign
R7307:Rbm19	UTSW	5	120186218	missense	possibly damaging	0.55
R8058:Rbm19	UTSW	5	120140375	critical splice donor site	probably null
R8432:Rbm19	UTSW	5	120175926	missense	probably damaging	1.00
R8696:Rbm19	UTSW	5	120127067	missense	probably damaging	0.98
R8910:Rbm19	UTSW	5	120133779	missense	probably damaging	1.00
R9261:Rbm19	UTSW	5	120118745	missense	probably damaging	1.00
R9424:Rbm19	UTSW	5	120140280	small deletion	probably benign
R9507:Rbm19	UTSW	5	120127167	critical splice donor site	probably null
R9695:Rbm19	UTSW	5	120197921	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCACAACTGGCTGATACTTCTC -3'
(R):5'- GTGGACGCAGTTCTAGCCTGATAAC -3'

Sequencing Primer
(F):5'- AACTGGCTGATACTTCTCCCATC -3'
(R):5'- GCAGTTCTAGCCTGATAACAATGAC -3'

Posted On

2013-07-11