Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Rbm19'

408388

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm19

Ensembl Gene

ENSMUSG00000029594

Gene Name

RNA binding motif protein 19

Synonyms

1200009A02Rik

Accession Numbers

Genbank: NM_028762 ; MGI: 1921361

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

120116465-120198981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120131246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 538 (D538G)

Ref Sequence

ENSEMBL: ENSMUSP00000144339 (fasta)

Gene Model

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

AlphaFold

Q8R3C6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031590
AA Change: D538G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: D538G

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 damaging
Transcript: ENSMUST00000202777
AA Change: D538G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: D538G

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

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,644	D246G	probably damaging	Het
4930452B06Rik	A	G	14: 8,511,113	S434P	probably damaging	Het
4931406B18Rik	A	G	7: 43,495,633	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,940,369	S200R	possibly damaging	Het
Adam29	T	C	8: 55,873,065	D118G	probably damaging	Het
Adh4	A	G	3: 138,429,145	D360G	probably benign	Het
Ankle2	A	G	5: 110,251,610	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,273,373		probably benign	Het
Ap1g2	T	A	14: 55,106,047	I28F	probably damaging	Het
Baz2a	C	T	10: 128,125,146	T1608I	possibly damaging	Het
C530008M17Rik	A	G	5: 76,857,616	D608G	unknown	Het
Cacnb4	T	C	2: 52,474,882	D123G	probably damaging	Het
Cage1	G	A	13: 38,028,147	T51M	probably benign	Het
Ccdc63	A	G	5: 122,122,813	V216A	probably benign	Het
Ccnd2	A	G	6: 127,148,878	V65A	probably damaging	Het
Chd3	T	A	11: 69,354,404	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,677		probably benign	Het
Cobl	G	T	11: 12,254,241	N813K	possibly damaging	Het
Cog5	G	A	12: 31,790,922	V249M	probably damaging	Het
Cps1	A	G	1: 67,142,921	N98S	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,713	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,294,317	V603A	possibly damaging	Het
F12	A	G	13: 55,421,519		probably benign	Het
Ficd	G	A	5: 113,736,929	V20I	probably benign	Het
Gatad2b	G	T	3: 90,341,937	G94V	probably benign	Het
Gm4845	G	A	1: 141,256,665		noncoding transcript	Het
Hrnr	G	A	3: 93,320,601	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,102,412	S584P	probably damaging	Het
Klk1b24	C	A	7: 44,191,366	Q73K	probably benign	Het
Lrp10	C	A	14: 54,469,162	N518K	possibly damaging	Het
Lsr	A	G	7: 30,959,281	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,709,703	M1K	probably null	Het
Mprip	T	A	11: 59,741,115		probably null	Het
Myo3b	G	T	2: 70,426,816		probably benign	Het
Olfr1019	T	C	2: 85,841,072	T240A	probably damaging	Het
Olfr123	T	A	17: 37,796,271	Y276N	probably damaging	Het
Olfr1463	C	T	19: 13,235,054	S268L	probably damaging	Het
Olfr32	A	T	2: 90,138,662	I159N	possibly damaging	Het
Olfr365	T	C	2: 37,201,871	V210A	probably benign	Het
Oprd1	A	G	4: 132,117,385	F104S	possibly damaging	Het
Palb2	A	G	7: 122,113,256	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,490,733	D372V	probably damaging	Het
Phc3	A	G	3: 30,936,853	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,641,947		probably benign	Het
Pik3ip1	A	G	11: 3,333,259	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,591,976	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,596,902	V4169A	probably benign	Het
Pklr	A	T	3: 89,142,656	I313F	probably damaging	Het
Plxna4	T	A	6: 32,202,225	T952S	probably benign	Het
Pop4	A	T	7: 38,263,306	I178N	probably damaging	Het
Prss40	A	C	1: 34,558,101	V122G	probably damaging	Het
Rapgef2	C	A	3: 79,074,307		probably null	Het
Rnf44	G	A	13: 54,681,990	R312*	probably null	Het
Rock1	T	C	18: 10,070,215		probably benign	Het
Rrp1b	A	G	17: 32,056,901	E474G	probably damaging	Het
Ryr2	T	A	13: 11,684,479	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,939,505	S801P	probably damaging	Het
Skint6	T	C	4: 113,012,956	I602V	probably benign	Het
Slc6a19	C	A	13: 73,700,471	V55L	probably damaging	Het
Smarca4	C	T	9: 21,635,836	T219I	probably benign	Het
Trappc11	C	A	8: 47,513,929	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,286,846	W75*	probably null	Het
Vmn2r52	A	G	7: 10,158,872	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,381,315	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,044,968	K74M	probably damaging	Het
Wrn	T	A	8: 33,248,961	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,580,845	T82A	probably benign	Het
Zfp82	T	C	7: 30,057,465	E64G	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
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
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

Posted On

2016-08-02