Mutagenetix > Incidental Mutation

Incidental Mutation 'R5976:Rbm19'

471753

Institutional Source

Beutler Lab

Gene Symbol

Rbm19

Ensembl Gene

ENSMUSG00000029594

Gene Name

RNA binding motif protein 19

Synonyms

1200009A02Rik

MMRRC Submission

044158-MU

Accession Numbers

Genbank: NM_028762 ; MGI: 1921361

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5976 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

120116465-120198981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120140307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 718 (S718R)

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: S718R

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

SMART Domains

Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: S718R

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 benign
Transcript: ENSMUST00000202777
AA Change: S718R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: S718R

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,284,129	A1697T	probably benign	Het
Ankar	T	C	1: 72,643,291	T1154A	probably benign	Het
Ankrd26	A	T	6: 118,517,894		probably null	Het
Arih2	A	T	9: 108,607,973	*54R	probably null	Het
AW146154	T	G	7: 41,480,297	K465T	probably damaging	Het
Bend3	A	G	10: 43,510,544	Y311C	probably benign	Het
Ccdc110	A	T	8: 45,943,499	Y809F	possibly damaging	Het
Ccnh	C	T	13: 85,190,863	P76L	probably damaging	Het
Chaf1a	T	A	17: 56,064,115	C667S	probably damaging	Het
Clca3a1	A	T	3: 144,746,875	Y616N	probably damaging	Het
Cldn4	A	G	5: 134,946,556	C64R	probably damaging	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 134,074,526		probably benign	Het
Dclk2	C	A	3: 86,787,225	R752L	possibly damaging	Het
Dzank1	C	A	2: 144,501,489	G318W	probably damaging	Het
Edem1	T	A	6: 108,842,962	I236K	probably damaging	Het
Eif4e1b	T	C	13: 54,784,822	F75L	probably damaging	Het
Elmo3	A	G	8: 105,307,647	Y266C	probably damaging	Het
Enpep	A	G	3: 129,299,124	S509P	probably damaging	Het
Exoc8	A	G	8: 124,896,653	M325T	probably benign	Het
Fah	A	G	7: 84,594,741	M270T	probably benign	Het
Gabbr1	T	C	17: 37,067,862	L532P	probably damaging	Het
Gm10770	T	A	2: 150,179,400	K66*	probably null	Het
Gprc5c	A	T	11: 114,864,487	Q330L	possibly damaging	Het
Grin3a	T	A	4: 49,792,602	H377L	probably damaging	Het
Hipk3	T	C	2: 104,471,184	E221G	probably damaging	Het
Hsd17b6	T	A	10: 127,991,439	M255L	probably benign	Het
Ighv1-7	T	A	12: 114,538,759	E29D	probably benign	Het
Ing3	T	A	6: 21,971,174	S326T	probably benign	Het
Ipo7	T	C	7: 110,048,807	L632P	probably damaging	Het
Kdm6b	A	G	11: 69,403,788		probably null	Het
Kif21a	T	G	15: 90,935,812	D1583A	probably damaging	Het
Lama2	C	T	10: 27,190,676	V1070I	probably benign	Het
Lrp1	A	T	10: 127,583,901	S946R	probably damaging	Het
Lrrc37a	A	G	11: 103,499,071	S1843P	possibly damaging	Het
Ltbp1	T	C	17: 75,290,083	Y517H	probably damaging	Het
Map2k4	T	A	11: 65,709,952	N51I	probably benign	Het
Mfsd2b	G	T	12: 4,866,522	A216D	probably damaging	Het
Nbea	T	C	3: 55,853,847	T2025A	probably benign	Het
Neb	A	G	2: 52,216,916	V4162A	possibly damaging	Het
Nr3c1	A	T	18: 39,421,549	F599I	probably damaging	Het
Nsun2	T	G	13: 69,623,152		probably null	Het
Olfr479	T	A	7: 108,055,798	M272K	possibly damaging	Het
Olfr884	G	T	9: 38,047,701	V160F	possibly damaging	Het
Otoa	T	A	7: 121,127,713	W524R	probably benign	Het
Paip1	T	A	13: 119,456,997	D182E	probably damaging	Het
Pde1a	G	A	2: 79,868,242	Q415*	probably null	Het
Pfkfb2	T	A	1: 130,708,079	K72*	probably null	Het
Pigg	A	G	5: 108,332,191	E444G	probably null	Het
Plec	T	C	15: 76,189,037	Y669C	probably damaging	Het
Ptp4a3	T	C	15: 73,756,036	V94A	possibly damaging	Het
Ptprg	A	G	14: 12,211,625	E969G	probably damaging	Het
R3hcc1l	T	A	19: 42,563,350	V262E	probably benign	Het
Ranbp3l	T	G	15: 9,002,093	F65C	possibly damaging	Het
Recql4	C	A	15: 76,709,424	R162L	probably benign	Het
Rest	T	C	5: 77,268,272	L111P	probably benign	Het
Rgma	T	C	7: 73,409,468	S13P	probably damaging	Het
Rogdi	T	A	16: 5,013,311	I31F	probably benign	Het
Serpinb9e	T	A	13: 33,255,129	D179E	probably benign	Het
Slc1a5	T	C	7: 16,795,882	C409R	probably damaging	Het
Slc25a38	A	G	9: 120,116,547	T38A	probably damaging	Het
Spag17	C	T	3: 100,095,791	Q1897*	probably null	Het
St7	C	A	6: 17,694,222	A4E	possibly damaging	Het
Tbcel	T	A	9: 42,439,203	I263F	possibly damaging	Het
Tmtc3	A	G	10: 100,476,672	V103A	probably benign	Het
Tnc	G	A	4: 64,018,166	P178S	probably benign	Het
Vwf	A	G	6: 125,603,463	D558G		Het
Zfp541	A	G	7: 16,076,419	K127R	probably benign	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
R5857:Rbm19	UTSW	5	120132942	missense	probably damaging	1.00
R5878:Rbm19	UTSW	5	120132867	missense	probably damaging	1.00
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'- CAGCATCTCAGGACCCCTTTAATC -3'
(R):5'- AGCCACTACTGGTCCCTTAC -3'

Sequencing Primer
(F):5'- GGACCCCTTTAATCTAGCAAGTTTTG -3'
(R):5'- ACTGGTCCCTTACGTGAACCAG -3'

Posted On

2017-03-31