Mutagenetix > Incidental Mutation

Incidental Mutation 'R1441:Rbm19'

161001

Institutional Source

Beutler Lab

Gene Symbol

Rbm19

Ensembl Gene

ENSMUSG00000029594

Gene Name

RNA binding motif protein 19

Synonyms

1200009A02Rik

MMRRC Submission

039496-MU

Accession Numbers

Genbank: NM_028762 ; MGI: 1921361

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1441 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120116465-120198981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120131176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 515 (F515L)

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: F515L

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

SMART Domains

Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: F515L

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: F515L

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

SMART Domains

Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: F515L

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

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 113,754,562		probably null	Het
Ankrd16	T	C	2: 11,778,746	L53P	probably damaging	Het
Arsk	A	T	13: 76,074,964	N171K	probably benign	Het
Brwd1	A	C	16: 96,066,151	C161W	probably damaging	Het
Card9	T	C	2: 26,359,390	N53S	probably benign	Het
Ccdc13	A	T	9: 121,813,449	V403E	probably benign	Het
Ccdc83	T	A	7: 90,244,143	E135D	probably damaging	Het
Ccser1	C	T	6: 62,380,032	T818I	probably benign	Het
Cd44	T	A	2: 102,846,418	T301S	probably damaging	Het
Eepd1	G	A	9: 25,483,203	M254I	probably benign	Het
Ephb4	C	T	5: 137,361,247	R360C	probably damaging	Het
Fam149a	G	T	8: 45,355,647	Q150K	probably damaging	Het
Fam208a	T	A	14: 27,464,260	C805*	probably null	Het
G6pc2	G	A	2: 69,220,854	C97Y	probably damaging	Het
Gcsam	T	A	16: 45,613,038	M15K	probably benign	Het
Impdh2	C	A	9: 108,564,776	T201K	probably benign	Het
Kdm2b	C	T	5: 122,932,880	E379K	probably benign	Het
Mcm3ap	T	C	10: 76,471,166	V371A	probably benign	Het
Mink1	T	A	11: 70,607,114	N514K	possibly damaging	Het
Mmp12	C	T	9: 7,354,787	P330L	probably damaging	Het
Mroh2a	A	G	1: 88,241,631	D676G	possibly damaging	Het
Myo1a	C	T	10: 127,719,279	P838L	probably benign	Het
Naip5	T	C	13: 100,219,717	H1130R	possibly damaging	Het
Ninl	C	A	2: 150,971,124	G204V	probably benign	Het
Olfr1301	T	C	2: 111,755,002	F251S	probably damaging	Het
Olfr202	G	A	16: 59,283,865	L211F	probably benign	Het
Olfr235	T	A	19: 12,268,386	L52*	probably null	Het
Olfr358	C	A	2: 37,005,119	R165L	possibly damaging	Het
Olfr441	T	C	6: 43,115,946	V68A	probably benign	Het
Olfr893	T	C	9: 38,209,481	C141R	probably damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Ptpn22	G	T	3: 103,874,247	W114L	probably damaging	Het
Rasa1	C	T	13: 85,252,421		probably null	Het
Rbks	C	T	5: 31,659,997	V143I	probably benign	Het
Ror1	A	G	4: 100,440,983	T518A	probably benign	Het
Rpusd4	C	A	9: 35,272,769	A240E	probably damaging	Het
Rufy3	T	C	5: 88,632,515	L374P	probably damaging	Het
Sf3a3	T	C	4: 124,725,142	S299P	probably damaging	Het
Slc7a12	T	G	3: 14,497,354	S264A	possibly damaging	Het
Tm9sf1	T	C	14: 55,636,325	Y572C	probably damaging	Het
Tmem55a	A	T	4: 14,892,477	I114L	possibly damaging	Het
Tpcn2	G	A	7: 145,260,134	S475L	probably benign	Het
Trim17	A	G	11: 58,965,192	D25G	probably damaging	Het
Ttn	T	A	2: 76,741,777	K26257N	probably damaging	Het
Txndc11	C	A	16: 11,134,550		probably benign	Het
Utrn	A	G	10: 12,683,295	S1405P	probably damaging	Het
Vmn2r58	G	A	7: 41,837,440	T677I	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
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'- CCAACAGTTCCAGGTCCTTGTCAC -3'
(R):5'- AGGCATTCTCTGCCAACCATCAG -3'

Sequencing Primer
(F):5'- tgaggtggggaggacag -3'
(R):5'- CAACCATCAGGTGGCGAG -3'

Posted On

2014-03-14