Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Rbm19'

408388

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

120254578-120337036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120269311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 538 (D538G)

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: D538G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: D538G

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: D538G

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

SMART Domains

Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: D538G

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,145,057 (GRCm39)	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,904,104 (GRCm39)	S200R	possibly damaging	Het
Adam29	T	C	8: 56,326,100 (GRCm39)	D118G	probably damaging	Het
Adh4	A	G	3: 138,134,906 (GRCm39)	D360G	probably benign	Het
Ankle2	A	G	5: 110,399,476 (GRCm39)	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,409,881 (GRCm39)		probably benign	Het
Ap1g2	T	A	14: 55,343,504 (GRCm39)	I28F	probably damaging	Het
Baz2a	C	T	10: 127,961,015 (GRCm39)	T1608I	possibly damaging	Het
Cacnb4	T	C	2: 52,364,894 (GRCm39)	D123G	probably damaging	Het
Cage1	G	A	13: 38,212,123 (GRCm39)	T51M	probably benign	Het
Ccdc63	A	G	5: 122,260,876 (GRCm39)	V216A	probably benign	Het
Ccnd2	A	G	6: 127,125,841 (GRCm39)	V65A	probably damaging	Het
Cfap20dc	A	G	14: 8,511,113 (GRCm38)	S434P	probably damaging	Het
Chd3	T	A	11: 69,245,230 (GRCm39)	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,823 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,241 (GRCm39)	N813K	possibly damaging	Het
Cog5	G	A	12: 31,840,921 (GRCm39)	V249M	probably damaging	Het
Cps1	A	G	1: 67,182,080 (GRCm39)	N98S	probably damaging	Het
Cracd	A	G	5: 77,005,463 (GRCm39)	D608G	unknown	Het
D630045J12Rik	A	T	6: 38,126,648 (GRCm39)	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,136,237 (GRCm39)	V603A	possibly damaging	Het
F12	A	G	13: 55,569,332 (GRCm39)		probably benign	Het
Ficd	G	A	5: 113,874,990 (GRCm39)	V20I	probably benign	Het
Gatad2b	G	T	3: 90,249,244 (GRCm39)	G94V	probably benign	Het
Gm4845	G	A	1: 141,184,403 (GRCm39)		noncoding transcript	Het
Hrnr	G	A	3: 93,227,908 (GRCm39)	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,829,040 (GRCm39)	S584P	probably damaging	Het
Klk1b24	C	A	7: 43,840,790 (GRCm39)	Q73K	probably benign	Het
Lrp10	C	A	14: 54,706,619 (GRCm39)	N518K	possibly damaging	Het
Lsr	A	G	7: 30,658,706 (GRCm39)	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,748,862 (GRCm39)	M1K	probably null	Het
Mprip	T	A	11: 59,631,941 (GRCm39)		probably null	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Oprd1	A	G	4: 131,844,696 (GRCm39)	F104S	possibly damaging	Het
Or1l4	T	C	2: 37,091,883 (GRCm39)	V210A	probably benign	Het
Or2g1	T	A	17: 38,107,162 (GRCm39)	Y276N	probably damaging	Het
Or4b1d	A	T	2: 89,969,006 (GRCm39)	I159N	possibly damaging	Het
Or5ar1	T	C	2: 85,671,416 (GRCm39)	T240A	probably damaging	Het
Or5b109	C	T	19: 13,212,418 (GRCm39)	S268L	probably damaging	Het
Palb2	A	G	7: 121,712,479 (GRCm39)	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,623,786 (GRCm39)	D372V	probably damaging	Het
Phc3	A	G	3: 30,991,002 (GRCm39)	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,513,796 (GRCm39)		probably benign	Het
Pik3ip1	A	G	11: 3,283,259 (GRCm39)	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,455,372 (GRCm39)	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,460,298 (GRCm39)	V4169A	probably benign	Het
Pklr	A	T	3: 89,049,963 (GRCm39)	I313F	probably damaging	Het
Plxna4	T	A	6: 32,179,160 (GRCm39)	T952S	probably benign	Het
Pop4	A	T	7: 37,962,730 (GRCm39)	I178N	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Prss40	A	C	1: 34,597,182 (GRCm39)	V122G	probably damaging	Het
Rapgef2	C	A	3: 78,981,614 (GRCm39)		probably null	Het
Rnf44	G	A	13: 54,829,803 (GRCm39)	R312*	probably null	Het
Rock1	T	C	18: 10,070,215 (GRCm39)		probably benign	Het
Rrp1b	A	G	17: 32,275,875 (GRCm39)	E474G	probably damaging	Het
Ryr2	T	A	13: 11,699,365 (GRCm39)	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,850,803 (GRCm39)	S801P	probably damaging	Het
Skint6	T	C	4: 112,870,153 (GRCm39)	I602V	probably benign	Het
Slc6a19	C	A	13: 73,848,590 (GRCm39)	V55L	probably damaging	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Trappc11	C	A	8: 47,966,964 (GRCm39)	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,507,108 (GRCm39)	W75*	probably null	Het
Vmn2r52	A	G	7: 9,892,799 (GRCm39)	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,217,149 (GRCm39)	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,084,049 (GRCm39)	K74M	probably damaging	Het
Wrn	T	A	8: 33,738,989 (GRCm39)	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,799,819 (GRCm39)	T82A	probably benign	Het
Zfp82	T	C	7: 29,756,890 (GRCm39)	E64G	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
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
R9424:Rbm19	UTSW	5	120,278,345 (GRCm39)	small deletion	probably benign
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

Posted On

2016-08-02