Mutagenetix > Incidental Mutation

Incidental Mutation 'R9424:Rbm19'

712487

Institutional Source

Beutler Lab

Gene Symbol

Rbm19

Ensembl Gene

ENSMUSG00000029594

Gene Name

RNA binding motif protein 19

Synonyms

1200009A02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9424 (G1)

Quality Score

101.467

Status

Not validated

Chromosome

Chromosomal Location

120254578-120337036 bp(+) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

AGAGGAGGAGGAGGAGGAGGA to AGAGGAGGAGGAGGAGGA at 120278345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144339 (fasta)

Gene Model

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

AlphaFold

Q8R3C6

Predicted Effect

probably benign
Transcript: ENSMUST00000031590

SMART Domains

Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594

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

SMART Domains

Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,947,843 (GRCm39)	I580N	probably benign	Het
Adam9	C	A	8: 25,445,953 (GRCm39)	V814F	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Ak2	A	G	4: 128,896,195 (GRCm39)	E120G	possibly damaging	Het
Akap9	C	A	5: 4,012,223 (GRCm39)	Y975*	probably null	Het
Akap9	C	T	5: 4,012,224 (GRCm39)	Q976*	probably null	Het
Bpnt1	T	C	1: 185,070,335 (GRCm39)	M9T	possibly damaging	Het
C4bp	C	A	1: 130,584,912 (GRCm39)	L41F	probably damaging	Het
Car3	A	T	3: 14,929,450 (GRCm39)	I59F		Het
Card11	T	C	5: 140,894,395 (GRCm39)	D78G	probably damaging	Het
Ccdc125	A	G	13: 100,820,876 (GRCm39)	D199G	possibly damaging	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Cd48	T	A	1: 171,532,432 (GRCm39)	I237N	possibly damaging	Het
Cep295	T	C	9: 15,244,499 (GRCm39)	E1319G	probably damaging	Het
Col6a4	C	A	9: 105,945,271 (GRCm39)	A948S	probably benign	Het
Dcp1b	T	A	6: 119,196,993 (GRCm39)	Y563*	probably null	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Ddx59	T	A	1: 136,344,681 (GRCm39)	Y117*	probably null	Het
Dennd2a	A	T	6: 39,485,294 (GRCm39)	Y328*	probably null	Het
Dhx30	A	G	9: 109,916,712 (GRCm39)	L601P	probably damaging	Het
Dip2c	A	G	13: 9,709,431 (GRCm39)	T1424A	probably damaging	Het
Dlg2	A	G	7: 92,080,325 (GRCm39)	N733S	probably damaging	Het
Dnah5	C	T	15: 28,272,286 (GRCm39)	T1030M	probably benign	Het
Fgd5	A	T	6: 91,956,017 (GRCm39)	R3*	probably null	Het
Gbf1	A	T	19: 46,248,122 (GRCm39)	T300S	probably benign	Het
Gm5591	A	T	7: 38,219,721 (GRCm39)	L384Q	probably damaging	Het
Grm5	C	T	7: 87,765,484 (GRCm39)	A904V	probably benign	Het
Havcr1	T	A	11: 46,669,391 (GRCm39)	V290E	probably benign	Het
Hspb7	A	G	4: 141,149,241 (GRCm39)	D49G	possibly damaging	Het
Itpr2	A	T	6: 146,212,505 (GRCm39)	I1537N	probably damaging	Het
Kalrn	T	C	16: 33,809,188 (GRCm39)	T2567A	probably benign	Het
Kat8	T	C	7: 127,524,100 (GRCm39)	L380S	probably benign	Het
Krt1c	T	A	15: 101,719,792 (GRCm39)	Y626F	unknown	Het
Lrrk2	T	A	15: 91,636,388 (GRCm39)	L1454*	probably null	Het
Mgat4a	C	A	1: 37,529,436 (GRCm39)	V148F	probably damaging	Het
Mtg1	T	A	7: 139,727,212 (GRCm39)	Y238*	probably null	Het
Neb	T	A	2: 52,041,410 (GRCm39)	Q6807L	probably benign	Het
Nlrp9a	C	A	7: 26,260,178 (GRCm39)	F644L	probably benign	Het
Pcdhb15	A	G	18: 37,607,263 (GRCm39)	N165S		Het
Pcdhb5	C	A	18: 37,454,120 (GRCm39)	Q167K	probably damaging	Het
Per1	T	A	11: 68,998,855 (GRCm39)	M1142K	probably damaging	Het
Piezo1	A	G	8: 123,218,079 (GRCm39)	V1220A		Het
Pkd1l1	T	C	11: 8,820,091 (GRCm39)	T1713A		Het
Plec	C	A	15: 76,115,377 (GRCm39)	A66S	probably benign	Het
Ppfia4	C	A	1: 134,247,044 (GRCm39)	V559F	possibly damaging	Het
Ppil6	T	C	10: 41,379,024 (GRCm39)	S224P	probably damaging	Het
Ppp2r2d	T	A	7: 138,475,978 (GRCm39)	M262K	possibly damaging	Het
Prl7d1	A	T	13: 27,894,185 (GRCm39)	M127K	probably benign	Het
Rassf9	T	A	10: 102,381,577 (GRCm39)	C320S	probably benign	Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Serpina3i	A	G	12: 104,234,730 (GRCm39)	T354A	probably benign	Het
Serpinb9b	A	G	13: 33,213,544 (GRCm39)	S34G	probably damaging	Het
Slc19a2	T	C	1: 164,076,895 (GRCm39)	V25A	probably damaging	Het
Slc1a2	G	A	2: 102,591,394 (GRCm39)	E375K	probably damaging	Het
Slfn9	T	A	11: 82,878,211 (GRCm39)	Y306F	possibly damaging	Het
Sparcl1	A	T	5: 104,241,030 (GRCm39)	D131E	possibly damaging	Het
Srl	A	T	16: 4,301,031 (GRCm39)	L680Q	probably damaging	Het
Sufu	G	A	19: 46,474,320 (GRCm39)	W465*	probably null	Het
Szt2	A	G	4: 118,248,151 (GRCm39)	L691P	probably damaging	Het
Tbc1d4	A	T	14: 101,703,096 (GRCm39)	I783N	probably damaging	Het
Tmem191	C	T	16: 17,094,526 (GRCm39)	R62*	probably null	Het
Tmem217	C	A	17: 29,745,690 (GRCm39)	M13I	possibly damaging	Het
Triobp	T	C	15: 78,844,266 (GRCm39)	S161P	probably damaging	Het
Trp53bp2	T	C	1: 182,273,864 (GRCm39)	V503A	possibly damaging	Het
Tspoap1	G	A	11: 87,652,082 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,582,347 (GRCm39)	T22849A	probably damaging	Het
Ugt2b37	A	T	5: 87,402,217 (GRCm39)	M138K	probably damaging	Het
Uimc1	A	T	13: 55,223,646 (GRCm39)	F209I	possibly damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Wdr91	A	T	6: 34,861,302 (GRCm39)	N633K	possibly damaging	Het
Zfp618	T	C	4: 63,051,282 (GRCm39)	S688P	probably benign	Het

Other mutations in Rbm19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Rbm19	APN	5	120,281,503 (GRCm39)	splice site	probably benign
IGL01750:Rbm19	APN	5	120,256,857 (GRCm39)	missense	probably benign	0.00
IGL01830:Rbm19	APN	5	120,262,760 (GRCm39)	missense	possibly damaging	0.95
IGL02028:Rbm19	APN	5	120,258,301 (GRCm39)	missense	probably damaging	1.00
IGL02262:Rbm19	APN	5	120,281,470 (GRCm39)	missense	probably damaging	0.99
IGL03030:Rbm19	APN	5	120,269,311 (GRCm39)	missense	probably damaging	1.00
IGL03094:Rbm19	APN	5	120,261,023 (GRCm39)	missense	probably damaging	1.00
N/A:Rbm19	UTSW	5	120,282,162 (GRCm39)	missense	probably damaging	0.99
PIT4812001:Rbm19	UTSW	5	120,266,315 (GRCm39)	missense	possibly damaging	0.91
R0190:Rbm19	UTSW	5	120,282,111 (GRCm39)	missense	probably benign	0.30
R0350:Rbm19	UTSW	5	120,266,372 (GRCm39)	missense	possibly damaging	0.75
R0594:Rbm19	UTSW	5	120,266,381 (GRCm39)	critical splice donor site	probably null
R0924:Rbm19	UTSW	5	120,264,269 (GRCm39)	missense	probably benign	0.11
R0930:Rbm19	UTSW	5	120,264,269 (GRCm39)	missense	probably benign	0.11
R0963:Rbm19	UTSW	5	120,268,799 (GRCm39)	missense	possibly damaging	0.83
R1144:Rbm19	UTSW	5	120,261,081 (GRCm39)	missense	possibly damaging	0.87
R1438:Rbm19	UTSW	5	120,260,961 (GRCm39)	missense	probably benign	0.01
R1441:Rbm19	UTSW	5	120,269,241 (GRCm39)	missense	probably damaging	1.00
R1458:Rbm19	UTSW	5	120,282,094 (GRCm39)	missense	probably benign	0.00
R1518:Rbm19	UTSW	5	120,278,345 (GRCm39)	small deletion	probably benign
R1992:Rbm19	UTSW	5	120,271,948 (GRCm39)	critical splice donor site	probably null
R2029:Rbm19	UTSW	5	120,258,307 (GRCm39)	missense	possibly damaging	0.85
R3055:Rbm19	UTSW	5	120,271,075 (GRCm39)	missense	probably damaging	1.00
R4356:Rbm19	UTSW	5	120,278,427 (GRCm39)	missense	possibly damaging	0.72
R4808:Rbm19	UTSW	5	120,256,839 (GRCm39)	missense	probably damaging	0.99
R4817:Rbm19	UTSW	5	120,271,799 (GRCm39)	intron	probably benign
R4857:Rbm19	UTSW	5	120,270,898 (GRCm39)	splice site	probably benign
R4963:Rbm19	UTSW	5	120,279,631 (GRCm39)	missense	probably damaging	1.00
R5812:Rbm19	UTSW	5	120,279,642 (GRCm39)	missense	probably damaging	1.00
R5857:Rbm19	UTSW	5	120,271,007 (GRCm39)	missense	probably damaging	1.00
R5878:Rbm19	UTSW	5	120,270,932 (GRCm39)	missense	probably damaging	1.00
R5976:Rbm19	UTSW	5	120,278,372 (GRCm39)	missense	probably benign	0.01
R6345:Rbm19	UTSW	5	120,265,105 (GRCm39)	missense	possibly damaging	0.87
R6489:Rbm19	UTSW	5	120,258,195 (GRCm39)	missense	probably benign	0.06
R6495:Rbm19	UTSW	5	120,257,745 (GRCm39)	missense	probably damaging	1.00
R7081:Rbm19	UTSW	5	120,261,216 (GRCm39)	critical splice donor site	probably null
R7181:Rbm19	UTSW	5	120,254,532 (GRCm39)	unclassified	probably benign
R7307:Rbm19	UTSW	5	120,324,283 (GRCm39)	missense	possibly damaging	0.55
R8058:Rbm19	UTSW	5	120,278,440 (GRCm39)	critical splice donor site	probably null
R8432:Rbm19	UTSW	5	120,313,991 (GRCm39)	missense	probably damaging	1.00
R8696:Rbm19	UTSW	5	120,265,132 (GRCm39)	missense	probably damaging	0.98
R8910:Rbm19	UTSW	5	120,271,844 (GRCm39)	missense	probably damaging	1.00
R9261:Rbm19	UTSW	5	120,256,810 (GRCm39)	missense	probably damaging	1.00
R9507:Rbm19	UTSW	5	120,265,232 (GRCm39)	critical splice donor site	probably null
R9695:Rbm19	UTSW	5	120,335,986 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGGACCCCTTTAATCTAGCAAG -3'
(R):5'- TCTAGAGCAGCCACTACTGG -3'

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

Posted On

2022-05-16