Mutagenetix > Incidental Mutation

Incidental Mutation 'R1438:Rbm19'

160757

Institutional Source

Beutler Lab

Gene Symbol

Rbm19

Ensembl Gene

ENSMUSG00000029594

Gene Name

RNA binding motif protein 19

Synonyms

1200009A02Rik

MMRRC Submission

039493-MU

Accession Numbers

Genbank: NM_028762 ; MGI: 1921361

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1438 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

120116465-120198981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120122896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 195 (E195G)

Ref Sequence

ENSEMBL: ENSMUSP00000144339 (fasta)

Gene Model

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

AlphaFold

Q8R3C6

Predicted Effect

probably benign
Transcript: ENSMUST00000031590
AA Change: E195G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: E195G

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 benign
Transcript: ENSMUST00000202777
AA Change: E195G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: E195G

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

0.0695

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

99% (80/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	T	5: 137,554,609	I67F	probably damaging	Het
Adam24	A	T	8: 40,681,392	N633I	probably benign	Het
Adgrg6	T	C	10: 14,468,841	S123G	possibly damaging	Het
Afdn	T	A	17: 13,855,390	F940L	probably damaging	Het
Ahrr	A	T	13: 74,224,868	Y26*	probably null	Het
Akap1	C	A	11: 88,844,751	G362*	probably null	Het
Aox3	A	T	1: 58,153,178	T536S	probably benign	Het
AU019823	C	A	9: 50,607,672	K213N	possibly damaging	Het
Boc	A	T	16: 44,488,746		probably null	Het
Cchcr1	T	C	17: 35,530,560		probably null	Het
Cct2	A	T	10: 117,054,992		probably benign	Het
Cd84	A	T	1: 171,852,118	Y121F	probably damaging	Het
Cecr2	T	A	6: 120,761,472	C275*	probably null	Het
Chchd3	C	A	6: 33,008,568		probably benign	Het
Ckmt2	A	T	13: 91,859,852		probably benign	Het
Col5a3	T	C	9: 20,779,957	K1131E	probably damaging	Het
Dek	A	T	13: 47,088,171	S306T	probably benign	Het
Dhx32	T	C	7: 133,737,340	E322G	possibly damaging	Het
Dlg5	T	A	14: 24,154,605	D941V	possibly damaging	Het
Dnah10	A	G	5: 124,798,945	N2559S	probably benign	Het
Dnajc3	A	G	14: 118,968,106	T171A	probably benign	Het
Eftud2	G	T	11: 102,860,042	F308L	probably damaging	Het
Elp6	T	C	9: 110,314,055	F95S	probably damaging	Het
Emsy	C	T	7: 98,621,406	V450I	possibly damaging	Het
Exoc3	A	T	13: 74,190,179	M362K	probably damaging	Het
Fat2	A	T	11: 55,287,811	D1474E	probably damaging	Het
Fcgbp	T	A	7: 28,103,733	C1587*	probably null	Het
Fosl2	T	A	5: 32,146,985	L88Q	probably damaging	Het
Fsd2	T	C	7: 81,548,873	D381G	probably benign	Het
Golim4	A	C	3: 75,956,133	S56A	probably damaging	Het
Gpr39	T	C	1: 125,872,356		probably benign	Het
Gucy1b2	T	C	14: 62,414,321	I409V	probably damaging	Het
Hivep1	A	G	13: 42,158,120	T1279A	probably benign	Het
Ifit1bl2	T	A	19: 34,619,169	Q349L	possibly damaging	Het
Kcnc1	A	T	7: 46,428,267	I498F	possibly damaging	Het
Kctd21	T	A	7: 97,347,497	I59N	probably damaging	Het
Lama5	T	A	2: 180,182,800	T2577S	probably benign	Het
Mief2	G	T	11: 60,730,314	R9M	possibly damaging	Het
Mmp3	T	C	9: 7,453,705	V442A	probably benign	Het
Nrxn3	C	T	12: 90,332,135	R477W	probably damaging	Het
Olfr1126	A	G	2: 87,457,992	T276A	probably benign	Het
Olfr57	T	A	10: 79,035,288	V164E	possibly damaging	Het
Parp1	A	G	1: 180,591,242	T656A	probably benign	Het
Pcdhb19	A	G	18: 37,497,962	D270G	probably damaging	Het
Phlpp1	A	G	1: 106,173,412	D470G	possibly damaging	Het
Prdm1	T	C	10: 44,442,128	E248G	probably benign	Het
Prtg	C	T	9: 72,910,750		probably benign	Het
Ptpn1	T	C	2: 167,976,609	Y424H	probably damaging	Het
Ptprr	T	C	10: 116,256,204	V369A	probably damaging	Het
Rai1	T	G	11: 60,185,395	V95G	probably benign	Het
Rasal3	T	A	17: 32,393,535		probably null	Het
Rhbdd3	T	A	11: 5,103,332	L44Q	probably damaging	Het
Ripply2	T	C	9: 87,019,660	W80R	probably damaging	Het
Rnf183	A	G	4: 62,428,523	C13R	probably damaging	Het
Rorb	A	G	19: 18,955,053	L367P	probably damaging	Het
Rpl7a-ps5	C	T	17: 57,839,140		probably benign	Het
Rreb1	A	G	13: 37,930,605	N647D	probably benign	Het
Rtn1	A	T	12: 72,304,413	S341T	probably damaging	Het
Ryr3	T	C	2: 112,757,701	S2632G	probably benign	Het
Scube1	A	G	15: 83,615,026	C633R	possibly damaging	Het
Sdk1	A	T	5: 142,038,323	I723F	probably damaging	Het
Sec23a	A	T	12: 59,002,010	C109S	probably damaging	Het
Sept11	T	C	5: 93,148,428	F60L	probably damaging	Het
Sgf29	G	A	7: 126,671,891		probably null	Het
Skint5	A	G	4: 113,556,111		probably benign	Het
Smo	G	A	6: 29,755,483	V385I	possibly damaging	Het
Tada2a	G	A	11: 84,110,011	T76I	probably damaging	Het
Tas2r118	T	A	6: 23,969,423	H213L	possibly damaging	Het
Thoc5	A	T	11: 4,911,427		probably benign	Het
Tmem33	T	A	5: 67,267,291		probably null	Het
Top1mt	A	G	15: 75,674,398	L78P	probably damaging	Het
Uvssa	T	A	5: 33,413,884		probably benign	Het
Vmn2r50	A	T	7: 10,050,135	C137*	probably null	Het
Vmn2r81	A	G	10: 79,293,857	T861A	probably benign	Het
Wnt3	A	T	11: 103,808,251	N61I	probably damaging	Het
Zswim9	A	G	7: 13,277,218	I68T	possibly damaging	Het
Zzef1	T	C	11: 72,912,945	I2535T	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
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

Predicted Primers

PCR Primer
(F):5'- AGACATGCACAGTCCAGCGTTC -3'
(R):5'- TGTAACCCAAGCCCAGTGTATCCTC -3'

Sequencing Primer
(F):5'- AGTCCAGCGTTCCCAGTC -3'
(R):5'- cagatagatagacaggcagacag -3'

Posted On

2014-03-14