Mutagenetix > Incidental Mutations

Incidental Mutation 'R5857:Rbm19'

454950

Institutional Source

Beutler Lab

Gene Symbol

Rbm19

Ensembl Gene

ENSMUSG00000029594

Gene Name

RNA binding motif protein 19

Synonyms

1200009A02Rik

MMRRC Submission

044069-MU

Accession Numbers

Genbank: NM_028762 ; MGI: 1921361

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5857 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120116465-120198981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120132942 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 610 (L610Q)

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: L610Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: L610Q

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: L610Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: L610Q

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

0.9552

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

95% (55/58)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,449,525	I266V	probably benign	Het
Anks6	C	T	4: 47,039,736	A492T	possibly damaging	Het
Ano1	A	T	7: 144,637,103	C415S	probably benign	Het
Anxa3	T	A	5: 96,828,792		probably null	Het
Apob	T	C	12: 8,015,397	V4089A	probably benign	Het
Arhgap23	C	T	11: 97,451,579	A229V	possibly damaging	Het
Atad5	T	C	11: 80,131,329	F1447L	probably benign	Het
Btbd8	T	A	5: 107,461,532	D212E	probably damaging	Het
Ccdc38	G	T	10: 93,562,833	A58S	possibly damaging	Het
Cep112	T	C	11: 108,531,471		probably benign	Het
Col4a2	G	A	8: 11,425,442	G622D	probably damaging	Het
Crhbp	T	A	13: 95,442,232	Q134L	probably benign	Het
Ctnnbl1	T	C	2: 157,789,098	S145P	probably damaging	Het
Cyp4f16	T	A	17: 32,537,024	L9Q	probably damaging	Het
Dchs2	T	G	3: 83,270,313	I891S	possibly damaging	Het
Disp3	A	T	4: 148,249,183	V1066D	probably benign	Het
Dlgap1	A	G	17: 70,815,393		probably benign	Het
Dnah3	TTCCTC	TTC	7: 119,951,021		probably benign	Het
Efl1	T	A	7: 82,763,189	C929S	probably benign	Het
Fam129b	T	A	2: 32,909,908	N82K	probably benign	Het
Gatb	T	C	3: 85,575,932	F82S	probably damaging	Het
Gk5	C	A	9: 96,119,455	S2*	probably null	Het
Gpr135	G	A	12: 72,070,840	A51V	probably benign	Het
Hoxa9	T	A	6: 52,224,297	N255Y	probably damaging	Het
Igkv8-18	T	C	6: 70,355,920	V15A	probably benign	Het
Ism2	T	C	12: 87,280,061	D368G	probably damaging	Het
Krtap6-2	A	T	16: 89,419,642	S146T	unknown	Het
Lama1	T	A	17: 67,807,843	L2329H	probably damaging	Het
Llgl2	T	A	11: 115,850,281	I507N	probably damaging	Het
Lmna	GCTGCCCACAC	GC	3: 88,482,531		probably benign	Het
Lrfn3	A	T	7: 30,359,438	I454N	possibly damaging	Het
Mdn1	C	A	4: 32,670,646	T437K	probably benign	Het
Nat8f3	T	C	6: 85,761,753	Y9C	probably damaging	Het
Nlrp4d	C	A	7: 10,382,377	G156V	noncoding transcript	Het
Npnt	A	T	3: 132,908,349	C167S	probably damaging	Het
Nr3c2	A	G	8: 76,908,867	N199S	possibly damaging	Het
Olfr248	T	G	1: 174,391,108	I13R	possibly damaging	Het
Olfr870	C	T	9: 20,171,239	D111N	probably damaging	Het
Olfr884	T	G	9: 38,047,753	V177G	probably benign	Het
Pabpc1l	T	A	2: 164,044,255		probably null	Het
Pi4ka	A	G	16: 17,358,984	I366T	probably benign	Het
Prl7a1	A	T	13: 27,640,701	D50E	probably damaging	Het
Rad52	T	G	6: 119,911,007		probably null	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Scube1	G	T	15: 83,607,260		probably benign	Het
Sptbn4	G	T	7: 27,418,713	R314S	possibly damaging	Het
Togaram1	T	A	12: 64,995,557	I1130K	possibly damaging	Het
Tsc2	T	C	17: 24,600,007	E1352G	probably damaging	Het
Ube2d2a	A	G	18: 35,805,543	T142A	probably benign	Het
Vps18	T	C	2: 119,297,533	Y946H	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATGCTGAGGTCACCTTTCTG -3'
(R):5'- CCTGGGAAACTCATATCTGCTG -3'

Sequencing Primer
(F):5'- GCTGAGGTCACCTTTCTGTTGTC -3'
(R):5'- AGGTACAGCCGTAATGCCC -3'

Posted On

2017-02-10