Mutagenetix > Incidental Mutation

Incidental Mutation 'R3418:Rbm45'

266879

Institutional Source

Beutler Lab

Gene Symbol

Rbm45

Ensembl Gene

ENSMUSG00000042369

Gene Name

RNA binding motif protein 45

Synonyms

G430095G15Rik, Drb1, Drbp1

MMRRC Submission

040636-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R3418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76200328-76214112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76209362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 392 (E392G)

Ref Sequence

ENSEMBL: ENSMUSP00000040420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046389]

AlphaFold

Q8BHN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000046389
AA Change: E392G

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

SMART Domains

Protein: ENSMUSP00000040420
Gene: ENSMUSG00000042369
AA Change: E392G

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
RRM	27	102	2.08e-12	SMART
RRM	122	191	1.37e-12	SMART
RRM	249	320	2.27e-1	SMART
RRM	394	460	4.07e-6	SMART

Meta Mutation Damage Score

0.3954

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Acaa1a	A	G	9: 119,178,556 (GRCm39)		probably null	Het
Agbl5	T	C	5: 31,062,067 (GRCm39)	S756P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Cdc16	C	T	8: 13,819,489 (GRCm39)	Q362*	probably null	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Cep170b	C	T	12: 112,704,902 (GRCm39)	Q887*	probably null	Het
Chd9	T	C	8: 91,763,219 (GRCm39)	I2348T	probably damaging	Het
Clec9a	A	G	6: 129,398,001 (GRCm39)		probably benign	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
D130040H23Rik	T	C	8: 69,755,579 (GRCm39)	I328T	probably benign	Het
Dido1	G	T	2: 180,302,728 (GRCm39)	D1725E	possibly damaging	Het
Dnajb14	A	G	3: 137,598,631 (GRCm39)	D123G	probably null	Het
Dock2	A	T	11: 34,580,587 (GRCm39)	M661K	probably damaging	Het
Esam	C	T	9: 37,448,426 (GRCm39)		probably null	Het
Fam20c	A	T	5: 138,743,623 (GRCm39)	N220Y	probably damaging	Het
Fat2	G	T	11: 55,169,824 (GRCm39)	H2978Q	probably benign	Het
Fbn1	T	C	2: 125,162,846 (GRCm39)	T2147A	possibly damaging	Het
Fdft1	T	C	14: 63,394,070 (GRCm39)	T214A	probably damaging	Het
Fhl5	T	C	4: 25,211,252 (GRCm39)	S147G	probably benign	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gcat	A	T	15: 78,926,297 (GRCm39)	T56S	possibly damaging	Het
Gemin5	A	T	11: 58,047,454 (GRCm39)		probably null	Het
Gm4736	A	T	6: 132,092,640 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,820,108 (GRCm39)	N368S	probably benign	Het
Gsto1	T	C	19: 47,846,344 (GRCm39)	F64L	probably benign	Het
Gucy1a1	A	G	3: 82,013,440 (GRCm39)	S401P	probably damaging	Het
Htr1f	G	A	16: 64,746,260 (GRCm39)	P344L	probably damaging	Het
Ighv7-3	T	A	12: 114,116,919 (GRCm39)	Y81F	probably damaging	Het
Jakmip3	C	A	7: 138,619,474 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,641 (GRCm39)	T194A	probably benign	Het
Khdrbs3	T	C	15: 68,921,224 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Myom2	T	G	8: 15,135,294 (GRCm39)	I499S	probably benign	Het
Nos2	T	A	11: 78,850,521 (GRCm39)	F1126L	possibly damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
P2ry1	T	C	3: 60,911,133 (GRCm39)	F91L	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Pou6f1	C	A	15: 100,478,805 (GRCm39)	V368L	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Rnf222	G	T	11: 68,783,982 (GRCm39)	R183L	probably damaging	Het
Robo1	C	T	16: 72,832,805 (GRCm39)	T1526I	probably benign	Het
Sel1l	A	G	12: 91,776,776 (GRCm39)	W689R	probably damaging	Het
Serpinb13	T	C	1: 106,926,657 (GRCm39)	S218P	probably damaging	Het
Serpini1	A	G	3: 75,547,589 (GRCm39)	Y367C	probably damaging	Het
Slc13a2	A	G	11: 78,291,666 (GRCm39)	F329S	probably benign	Het
Smc2	T	C	4: 52,476,850 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,446 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tgfbr2	T	C	9: 115,958,901 (GRCm39)	Y146C	probably damaging	Het
Tnfrsf11a	A	G	1: 105,737,130 (GRCm39)	D79G	possibly damaging	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Ubn1	A	G	16: 4,892,243 (GRCm39)		probably benign	Het
Ubp1	T	C	9: 113,780,754 (GRCm39)		probably null	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	probably benign	Het

Other mutations in Rbm45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Rbm45	APN	2	76,209,051 (GRCm39)	missense	probably damaging	1.00
IGL03335:Rbm45	APN	2	76,206,777 (GRCm39)	missense	probably damaging	1.00
R0008:Rbm45	UTSW	2	76,208,742 (GRCm39)	missense	probably damaging	1.00
R0008:Rbm45	UTSW	2	76,208,742 (GRCm39)	missense	probably damaging	1.00
R0382:Rbm45	UTSW	2	76,200,555 (GRCm39)	missense	possibly damaging	0.92
R1468:Rbm45	UTSW	2	76,202,459 (GRCm39)	missense	probably damaging	1.00
R1468:Rbm45	UTSW	2	76,202,459 (GRCm39)	missense	probably damaging	1.00
R1533:Rbm45	UTSW	2	76,202,503 (GRCm39)	critical splice donor site	probably null
R1942:Rbm45	UTSW	2	76,205,823 (GRCm39)	critical splice donor site	probably null
R2046:Rbm45	UTSW	2	76,205,742 (GRCm39)	missense	probably benign
R2912:Rbm45	UTSW	2	76,205,798 (GRCm39)	missense	probably benign	0.05
R2913:Rbm45	UTSW	2	76,205,798 (GRCm39)	missense	probably benign	0.05
R2929:Rbm45	UTSW	2	76,208,763 (GRCm39)	missense	probably benign	0.00
R3886:Rbm45	UTSW	2	76,205,768 (GRCm39)	missense	probably benign
R3887:Rbm45	UTSW	2	76,205,768 (GRCm39)	missense	probably benign
R3888:Rbm45	UTSW	2	76,205,768 (GRCm39)	missense	probably benign
R4488:Rbm45	UTSW	2	76,206,740 (GRCm39)	missense	probably damaging	0.99
R5369:Rbm45	UTSW	2	76,200,594 (GRCm39)	missense	probably damaging	1.00
R5990:Rbm45	UTSW	2	76,200,756 (GRCm39)	missense	probably benign	0.36
R6569:Rbm45	UTSW	2	76,209,416 (GRCm39)	missense	probably damaging	1.00
R6806:Rbm45	UTSW	2	76,210,804 (GRCm39)	missense	probably benign	0.19
R7022:Rbm45	UTSW	2	76,206,738 (GRCm39)	missense	probably damaging	1.00
R7832:Rbm45	UTSW	2	76,206,797 (GRCm39)	missense	possibly damaging	0.80
R8720:Rbm45	UTSW	2	76,210,711 (GRCm39)	missense	probably damaging	1.00
R8933:Rbm45	UTSW	2	76,209,068 (GRCm39)	missense	probably damaging	1.00
R9064:Rbm45	UTSW	2	76,202,446 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCGAGAACACTTTCAGAGC -3'
(R):5'- TAGAACTCAGAGCAGGTCACG -3'

Sequencing Primer
(F):5'- TACCGAGAACACTTTCAGAGCTGTAG -3'
(R):5'- AGCAGGTCACGGCGCAG -3'

Posted On

2015-02-18