Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02262:Rbm19'

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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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02262

Quality Score

Status

Chromosome

Chromosomal Location

120116465-120198981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120143405 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 797 (E797G)

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 damaging
Transcript: ENSMUST00000031590
AA Change: E797G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: E797G

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: E797G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: E797G

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	G	T	10: 14,441,396	A560E	probably benign	Het
Apol7c	A	T	15: 77,525,813	M311K	probably benign	Het
Arap2	A	C	5: 62,642,841	V1281G	probably damaging	Het
Cacna1s	C	T	1: 136,108,129	T1388I	probably damaging	Het
Dcaf13	T	C	15: 39,118,707		probably benign	Het
Dscaml1	G	A	9: 45,745,116	G1585S	probably benign	Het
Dscaml1	G	A	9: 45,732,080	V1266I	probably benign	Het
Epc1	A	G	18: 6,437,278	L750P	probably damaging	Het
Fgd6	T	A	10: 94,125,628	M1108K	probably damaging	Het
Gm14496	T	C	2: 181,996,012	I293T	probably damaging	Het
Gm21759	T	C	5: 8,180,747		probably benign	Het
Igkv3-10	A	T	6: 70,573,170	D100V	possibly damaging	Het
Ipo13	A	C	4: 117,903,813	I569M	probably damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Kif26b	A	G	1: 178,916,068	Y1243C	probably benign	Het
Map3k12	T	C	15: 102,502,075	E489G	probably damaging	Het
Nrxn1	A	G	17: 90,704,208	V331A	probably damaging	Het
Ntrk1	G	A	3: 87,781,797	L529F	probably damaging	Het
Obscn	A	T	11: 59,028,533	C6882S	possibly damaging	Het
Olfr126	A	C	17: 37,851,263	T224P	probably damaging	Het
Olfr912	C	T	9: 38,581,513	P79S	probably damaging	Het
Ppp1r13b	C	A	12: 111,835,211	L346F	possibly damaging	Het
Psg22	T	C	7: 18,724,571	S396P	probably damaging	Het
Ros1	T	G	10: 52,178,969	D79A	probably damaging	Het
Scn10a	C	T	9: 119,658,433	V612I	possibly damaging	Het
Sema4c	A	G	1: 36,550,341	V568A	probably damaging	Het
Soga1	A	T	2: 157,030,906	V895E	probably damaging	Het
Traf5	A	G	1: 191,997,675	F472L	probably damaging	Het
Trim30b	C	T	7: 104,365,900	V94M	probably damaging	Het
Wasl	A	T	6: 24,619,187	S445T	unknown	Het
Zfp541	A	G	7: 16,079,695	K758E	probably 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
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
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

Posted On

2015-04-16