Mutagenetix > Incidental Mutations

Incidental Mutation 'R7081:Rbm19'

549520

Institutional Source

Beutler Lab

Gene Symbol

Rbm19

Ensembl Gene

ENSMUSG00000029594

Gene Name

RNA binding motif protein 19

Synonyms

1200009A02Rik

MMRRC Submission

Accession Numbers

Genbank: NM_028762 ; MGI: 1921361

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7081 (G1)

Quality Score

225.009

Status

Not 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 A at 120123151 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031590 (fasta)

Gene Model

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

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	G	6: 96,165,817	V82A	possibly damaging	Het
Aatf	T	A	11: 84,471,125	H337L	possibly damaging	Het
Abcb4	T	A	5: 8,934,263	N664K	probably benign	Het
Adh7	A	G	3: 138,228,845	D343G	probably benign	Het
Als2cl	G	A	9: 110,894,582	R682Q	possibly damaging	Het
Angptl6	A	C	9: 20,875,348	I334R	probably damaging	Het
Ankrd45	A	G	1: 161,151,293	N101D	probably benign	Het
Arhgef10	C	T	8: 14,997,547	Q1137*	probably null	Het
Asap3	T	A	4: 136,241,570		probably null	Het
Bmp2k	T	C	5: 97,064,961	S568P	unknown	Het
C4b	A	C	17: 34,735,443	F917L	probably benign	Het
Cacna1e	A	T	1: 154,700,383	V168E	possibly damaging	Het
Ccdc60	T	A	5: 116,126,087	I543F	probably benign	Het
Cd36	T	C	5: 17,814,704	D133G	probably damaging	Het
Chd4	T	C	6: 125,129,985	V1911A	unknown	Het
Cplx4	A	T	18: 65,967,467		probably null	Het
Cyp1a2	A	T	9: 57,678,989	D415E	possibly damaging	Het
Cyp3a57	T	C	5: 145,381,373	I388T	probably damaging	Het
Dnajc5b	T	C	3: 19,546,861		probably null	Het
Dock4	A	T	12: 40,621,286	I35F	probably damaging	Het
Efna4	A	T	3: 89,334,294	L206Q	unknown	Het
Eif2a	T	C	3: 58,541,718		probably null	Het
Fam120a	A	G	13: 48,910,325	F612L	probably damaging	Het
Fbxw21	A	G	9: 109,161,922	L23P	probably damaging	Het
Fcamr	A	T	1: 130,813,212	E456V	probably damaging	Het
Fkbp8	G	A	8: 70,530,994	R106H	probably benign	Het
Galr2	T	A	11: 116,283,048	L168Q	probably damaging	Het
Gm11111	C	T	5: 98,553,540	S22L	unknown	Het
Gm14124	A	G	2: 150,268,269	H293R	possibly damaging	Het
Gm3183	T	A	5: 94,874,782	N107K	possibly damaging	Het
Gnpat	T	C	8: 124,863,269	F11S	possibly damaging	Het
H2-T24	A	T	17: 36,017,452	D46E	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Ifna12	T	C	4: 88,603,203	R36G	probably damaging	Het
Kcnma1	G	A	14: 23,300,018	P1151L	probably damaging	Het
Kif5c	T	A	2: 49,741,361	D683E	probably benign	Het
Krit1	T	C	5: 3,823,651	Y477H	possibly damaging	Het
Lipm	T	A	19: 34,121,323	V399D	possibly damaging	Het
Lrguk	A	T	6: 34,102,139	T770S	probably benign	Het
Lrrc37a	T	C	11: 103,457,955	N2638S	unknown	Het
Lrrc40	T	C	3: 158,036,805	V27A	probably damaging	Het
Map4k1	T	C	7: 28,991,149	V355A	probably benign	Het
Mylk3	T	C	8: 85,364,793	I128V	probably benign	Het
Myo1c	A	G	11: 75,660,963	D289G	probably benign	Het
Mypn	A	G	10: 63,134,958	F889S	probably damaging	Het
Ndufv3	C	T	17: 31,527,433	P99L	possibly damaging	Het
Nlrp10	A	C	7: 108,924,648	S542A	probably benign	Het
Noc2l	T	A	4: 156,247,020	D718E	possibly damaging	Het
Ntng1	T	A	3: 109,851,789	I355F	probably benign	Het
Nup210	A	G	6: 91,060,665	V742A	possibly damaging	Het
Olfr1037	A	T	2: 86,085,595	F61I	probably damaging	Het
Olfr560	A	T	7: 102,753,188	I247N	probably benign	Het
Olig2	T	A	16: 91,226,419	L7Q	probably damaging	Het
Parpbp	A	T	10: 88,093,655	W444R	probably damaging	Het
Plekhg3	A	G	12: 76,578,245	E1287G	probably benign	Het
Pramef25	T	C	4: 143,949,278	D326G	probably damaging	Het
Prrc2b	A	T	2: 32,213,063	Q851L	probably benign	Het
Psg21	C	T	7: 18,654,849	W106*	probably null	Het
Rab18	T	G	18: 6,778,529	D53E	probably benign	Het
Rhobtb1	T	C	10: 69,266,297	V136A	probably benign	Het
Rsph4a	G	A	10: 33,909,193	V367I	probably damaging	Het
Sec24b	T	C	3: 129,987,742	N1161S	probably benign	Het
Sgcd	C	A	11: 47,125,601	G145*	probably null	Het
Sin3a	A	G	9: 57,094,471	K134R	probably null	Het
Slc9b2	A	G	3: 135,321,937	E108G	probably benign	Het
Stk24	A	T	14: 121,294,294	S317T	probably benign	Het
Stra8	T	A	6: 34,934,367		probably null	Het
Tmem131	A	G	1: 36,889,295	V71A	possibly damaging	Het
Tmem87a	T	C	2: 120,380,783	D227G	possibly damaging	Het
Vnn1	T	A	10: 23,895,005	L44M	possibly damaging	Het
Wdr20	G	A	12: 110,803,450	V160I	possibly damaging	Het
Zfand4	T	A	6: 116,315,620	N667K	possibly damaging	Het
Zfp609	A	G	9: 65,702,441	V1080A	possibly damaging	Het
Zhx1	C	T	15: 58,054,338	V171I	probably benign	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
R0594:Rbm19	UTSW	5	120128316	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGCAGAAGGAGCTGTCAGAC -3'
(R):5'- ACAGGGACCTATGGTGTGAG -3'

Sequencing Primer
(F):5'- AGCTGTCAGACATGGACTACTTG -3'
(R):5'- TGTGAGGACACCTATGGGC -3'

Posted On

2019-05-15