Mutagenetix > Incidental Mutation

Incidental Mutation 'R9064:Rbm45'

689134

Institutional Source

Beutler Lab

Gene Symbol

Rbm45

Ensembl Gene

ENSMUSG00000042369

Gene Name

RNA binding motif protein 45

Synonyms

G430095G15Rik, Drb1, Drbp1

MMRRC Submission

068889-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R9064 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76200328-76214112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76202446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 123 (I123T)

Ref Sequence

ENSEMBL: ENSMUSP00000040420 (fasta)

Gene Model

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

AlphaFold

Q8BHN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000046389
AA Change: I123T

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

SMART Domains

Protein: ENSMUSP00000040420
Gene: ENSMUSG00000042369
AA Change: I123T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,463,510 (GRCm39)	E598G	probably benign	Het
Adgrb3	T	C	1: 25,570,965 (GRCm39)	E504G	possibly damaging	Het
Ank3	T	C	10: 69,822,185 (GRCm39)	S285P		Het
Ankrd28	G	A	14: 31,454,005 (GRCm39)	H410Y	probably damaging	Het
Armh1	C	A	4: 117,094,855 (GRCm39)	V62L	probably benign	Het
Atp8b1	A	G	18: 64,697,491 (GRCm39)	I451T	probably benign	Het
C2cd3	A	G	7: 100,059,608 (GRCm39)	D245G		Het
Calr3	T	C	8: 73,188,674 (GRCm39)	K151R	possibly damaging	Het
Cenpq	G	A	17: 41,243,731 (GRCm39)	T39I	probably benign	Het
Cep126	T	C	9: 8,103,341 (GRCm39)	D223G	possibly damaging	Het
Chd2	A	T	7: 73,143,279 (GRCm39)	I538K	possibly damaging	Het
Cyp3a41b	C	T	5: 145,514,910 (GRCm39)	R105Q	probably damaging	Het
Dnah6	C	A	6: 73,126,156 (GRCm39)	R1327L	probably benign	Het
Exd2	T	C	12: 80,531,148 (GRCm39)		probably null	Het
Fam118a	T	C	15: 84,930,039 (GRCm39)	V89A	probably damaging	Het
Fbxo40	A	T	16: 36,791,002 (GRCm39)	I36K	probably damaging	Het
Fntb	A	G	12: 76,934,640 (GRCm39)	N170S	probably benign	Het
Frzb	A	G	2: 80,277,052 (GRCm39)	S45P	probably benign	Het
Gm4841	T	C	18: 60,403,961 (GRCm39)	E44G	probably benign	Het
Hecw2	C	A	1: 53,866,045 (GRCm39)	A1539S	probably benign	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kcnh5	A	T	12: 75,177,727 (GRCm39)	C126*	probably null	Het
Kdm5a	TAGAAGAAG	TAGAAG	6: 120,403,869 (GRCm39)		probably benign	Het
Kremen2	A	G	17: 23,961,736 (GRCm39)	L257P	possibly damaging	Het
Mcat	A	C	15: 83,432,134 (GRCm39)	F245V	probably damaging	Het
Mdm2	T	C	10: 117,538,235 (GRCm39)	I54M	probably benign	Het
Muc4	A	G	16: 32,754,397 (GRCm38)	T1424A	possibly damaging	Het
Mylk3	T	C	8: 86,081,940 (GRCm39)	T416A	probably benign	Het
Nol4	T	A	18: 22,903,850 (GRCm39)	D156V		Het
Nxpe4	T	C	9: 48,309,964 (GRCm39)	V409A	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Obscn	G	T	11: 58,899,935 (GRCm39)	T966K		Het
Or10j3b	C	T	1: 173,044,060 (GRCm39)	L281F	possibly damaging	Het
Or10w1	G	A	19: 13,632,719 (GRCm39)	V309M	possibly damaging	Het
Or14c42-ps1	A	G	7: 86,211,371 (GRCm39)	T144A	unknown	Het
Phip	C	T	9: 82,753,540 (GRCm39)	V1735I	probably benign	Het
Pkhd1l1	A	T	15: 44,426,038 (GRCm39)	T3200S	possibly damaging	Het
Prdm4	T	C	10: 85,737,678 (GRCm39)	N496S	probably damaging	Het
Proser1	C	T	3: 53,384,927 (GRCm39)	L270F	probably damaging	Het
Psmd11	T	C	11: 80,336,069 (GRCm39)	V107A	probably damaging	Het
Rassf10	A	T	7: 112,554,315 (GRCm39)	E305D	probably benign	Het
Rpp25	G	T	9: 57,411,635 (GRCm39)	R39L	probably damaging	Het
Rreb1	A	G	13: 38,115,326 (GRCm39)	N895S	possibly damaging	Het
Sirpa	A	T	2: 129,458,460 (GRCm39)	S359C	possibly damaging	Het
Slc26a9	T	A	1: 131,680,703 (GRCm39)	C83S	probably benign	Het
Spink5	T	G	18: 44,100,193 (GRCm39)	L70R	probably damaging	Het
Stil	T	G	4: 114,898,932 (GRCm39)	N1187K	probably benign	Het
Sucla2	A	T	14: 73,828,303 (GRCm39)	E303D	probably benign	Het
Supt3	G	A	17: 45,305,295 (GRCm39)		probably null	Het
Tmc5	G	T	7: 118,233,270 (GRCm39)	S28I	probably benign	Het
Vps8	T	C	16: 21,288,979 (GRCm39)	V444A	probably damaging	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
R3418:Rbm45	UTSW	2	76,209,362 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CCATATTACCTGAAGGCCTGCC -3'
(R):5'- CCAACCAGTGCTTTGGAATTTTG -3'

Sequencing Primer
(F):5'- CAGCGTTATTCTGAAGGC -3'
(R):5'- AACCAGTGCTTTGGAATTTTGAGAGC -3'

Posted On

2021-11-19