Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02028:Rbm19'

184262

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 #

IGL02028

Quality Score

Status

Chromosome

Chromosomal Location

120116465-120198981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120120236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 172 (D172G)

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: D172G

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

SMART Domains

Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: D172G

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: ENSMUST00000201527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202388

Predicted Effect

probably damaging
Transcript: ENSMUST00000202777
AA Change: D172G

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

SMART Domains

Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: D172G

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,434,283	Y53C	probably damaging	Het
Acacb	T	A	5: 114,166,015	D166E	probably damaging	Het
Akap8l	T	C	17: 32,338,521		probably null	Het
Arl6ip5	A	G	6: 97,229,650	Y97C	probably damaging	Het
Atad5	T	A	11: 80,134,110	S1772R	probably benign	Het
Ccdc106	A	G	7: 5,059,646	Q155R	probably damaging	Het
Ccdc33	T	C	9: 58,076,578	N446S	probably benign	Het
Cd3eap	T	C	7: 19,357,078	K368R	probably damaging	Het
Cdh2	T	C	18: 16,650,420	D84G	probably benign	Het
Cntn6	A	G	6: 104,859,426	K918E	probably damaging	Het
Dock6	T	C	9: 21,838,826	D521G	probably damaging	Het
Etv6	C	T	6: 134,248,733	A309V	probably benign	Het
Ezh1	G	T	11: 101,199,340	H529Q	probably damaging	Het
Figla	T	C	6: 86,017,363	L40P	probably damaging	Het
Gabra4	T	A	5: 71,633,596	Q301L	probably damaging	Het
Glt1d1	G	A	5: 127,706,920	V313M	possibly damaging	Het
Gm28778	T	A	1: 53,317,961	I94K	possibly damaging	Het
Gm4847	T	C	1: 166,642,196	K103E	probably benign	Het
Gne	A	G	4: 44,066,852	S23P	probably damaging	Het
Hipk2	A	G	6: 38,818,756	C186R	possibly damaging	Het
Lrp1b	C	T	2: 41,511,452	V283I	probably damaging	Het
Mcm10	A	T	2: 5,008,700	D40E	possibly damaging	Het
Morc2b	T	A	17: 33,137,413	I462F	possibly damaging	Het
Myh1	T	A	11: 67,210,615	I711N	probably damaging	Het
Oit3	A	G	10: 59,438,655	F108L	probably damaging	Het
Olfr1289	T	C	2: 111,483,471	F14L	probably benign	Het
Olfr913	T	A	9: 38,594,419	L66*	probably null	Het
Ribc2	A	G	15: 85,143,335	D339G	possibly damaging	Het
Rras2	C	A	7: 114,060,362	V56L	probably benign	Het
Scn2a	A	G	2: 65,763,658	E1617G	probably damaging	Het
Slc13a1	T	A	6: 24,118,031	M236L	probably benign	Het
Snrnp27	C	T	6: 86,682,973	R13H	unknown	Het
Srgap2	T	C	1: 131,296,435	K92E	probably damaging	Het
Suco	T	C	1: 161,856,859	K231E	possibly damaging	Het
Tll2	C	A	19: 41,098,649	E588*	probably null	Het
Tmem215	A	T	4: 40,473,940	I6L	possibly damaging	Het
Tnc	A	C	4: 63,966,672		probably benign	Het
Tob1	G	A	11: 94,214,226	G196D	probably benign	Het
Ubtfl1	T	A	9: 18,409,553	Y126N	possibly damaging	Het
Uck1	G	T	2: 32,258,137	Q192K	probably damaging	Het
Vdac3-ps1	A	G	13: 18,030,884		noncoding transcript	Het
Vmn1r88	C	T	7: 13,177,792	S25L	probably benign	Het
Vmn2r109	T	G	17: 20,541,080	I672L	probably benign	Het
Vmn2r23	T	C	6: 123,741,860	F724S	probably damaging	Het
Vmn2r54	A	T	7: 12,632,161	F282Y	probably damaging	Het
Vmn2r82	A	T	10: 79,379,223	I347F	probably benign	Het
Wasf2	G	A	4: 133,195,801	R474H	probably damaging	Het
Wdr60	C	A	12: 116,256,061	R87L	probably benign	Het
Zmym5	T	C	14: 56,804,160	H162R	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
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
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

2014-05-07