Mutagenetix > Incidental Mutation

Incidental Mutation 'R3813:Rbm17'

274124

Institutional Source

Beutler Lab

Gene Symbol

Rbm17

Ensembl Gene

ENSMUSG00000037197

Gene Name

RNA binding motif protein 17

Synonyms

2700027J02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R3813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11590250-11608061 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 11600246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040314] [ENSMUST00000156469]

AlphaFold

Q8JZX4

Predicted Effect

probably benign
Transcript: ENSMUST00000040314

SMART Domains

Protein: ENSMUSP00000041831
Gene: ENSMUSG00000037197

Domain	Start	End	E-Value	Type
coiled coil region	106	144	N/A	INTRINSIC
low complexity region	148	166	N/A	INTRINSIC
G_patch	233	279	4.97e-13	SMART
RRM	310	389	4.69e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195047

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,825,785 (GRCm39)	D1018G	possibly damaging	Het
Adgrg1	T	A	8: 95,738,193 (GRCm39)	L562Q	probably benign	Het
Ankrd11	T	C	8: 123,618,117 (GRCm39)	T1891A	probably benign	Het
Arid2	A	G	15: 96,267,831 (GRCm39)	N648S	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cacna1s	A	T	1: 136,013,085 (GRCm39)	I312F	probably damaging	Het
Cenpj	A	G	14: 56,790,679 (GRCm39)	S457P	probably benign	Het
Cep120	G	A	18: 53,873,284 (GRCm39)		probably benign	Het
Cfap70	T	A	14: 20,471,190 (GRCm39)	I493L	possibly damaging	Het
Cfap97d1	A	T	11: 101,882,314 (GRCm39)	R106S	probably benign	Het
Csmd3	T	C	15: 48,655,209 (GRCm39)	D31G	possibly damaging	Het
Cstf3	T	C	2: 104,439,466 (GRCm39)	Y54H	probably damaging	Het
Cubn	T	A	2: 13,299,136 (GRCm39)	Y3179F	probably damaging	Het
Cyp2s1	C	T	7: 25,505,291 (GRCm39)		probably null	Het
Dll4	C	A	2: 119,161,510 (GRCm39)	T364N	possibly damaging	Het
Doc2g	C	T	19: 4,054,466 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,793,246 (GRCm39)	E657G	probably damaging	Het
Fhdc1	A	G	3: 84,371,577 (GRCm39)		probably null	Het
Fndc1	T	C	17: 7,992,154 (GRCm39)	H514R	unknown	Het
Gpat3	A	G	5: 101,039,505 (GRCm39)		probably benign	Het
H2-Q4	A	G	17: 35,602,071 (GRCm39)	H311R	possibly damaging	Het
Hipk4	T	C	7: 27,223,372 (GRCm39)	L144S	probably damaging	Het
Hspa4	G	A	11: 53,161,806 (GRCm39)	P449S	probably benign	Het
Kif7	A	G	7: 79,363,638 (GRCm39)	V90A	probably damaging	Het
Klhl38	T	C	15: 58,185,953 (GRCm39)	I259V	probably benign	Het
Krt9	T	A	11: 100,080,503 (GRCm39)	E414D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrriq1	T	C	10: 103,051,972 (GRCm39)	E260G	probably damaging	Het
Macf1	A	G	4: 123,268,560 (GRCm39)	S4689P	probably damaging	Het
Manba	G	A	3: 135,269,023 (GRCm39)	E643K	possibly damaging	Het
Mc3r	T	A	2: 172,090,799 (GRCm39)	L7Q	probably benign	Het
Mdga1	G	A	17: 30,057,453 (GRCm39)	P788S	probably damaging	Het
Or5d35	T	C	2: 87,855,105 (GRCm39)	F13S	probably damaging	Het
Or6c70	T	A	10: 129,709,855 (GRCm39)	Y257F	probably damaging	Het
Pcdh12	G	A	18: 38,416,667 (GRCm39)	R153*	probably null	Het
Plk3	T	C	4: 116,990,647 (GRCm39)	Y89C	probably damaging	Het
Prss41	G	A	17: 24,056,596 (GRCm39)	R160*	probably null	Het
Rae1	T	A	2: 172,848,666 (GRCm39)		probably benign	Het
Recql4	A	T	15: 76,588,694 (GRCm39)	M1039K	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slit3	A	G	11: 35,566,806 (GRCm39)	Y1026C	probably damaging	Het
Tbl2	T	A	5: 135,185,375 (GRCm39)		probably null	Het
Tex2	G	A	11: 106,402,770 (GRCm39)	T1034I	unknown	Het
Tmem241	A	T	18: 12,200,167 (GRCm39)		probably benign	Het
Tmtc1	T	C	6: 148,256,389 (GRCm39)		probably benign	Het
Trappc9	A	T	15: 72,930,242 (GRCm39)	I38N	probably damaging	Het
Trmt1	T	A	8: 85,421,846 (GRCm39)		probably benign	Het
Vps37d	G	A	5: 135,103,304 (GRCm39)	Q113*	probably null	Het
Zup1	T	C	10: 33,816,218 (GRCm39)	E242G	possibly damaging	Het

Other mutations in Rbm17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Rbm17	APN	2	11,600,249 (GRCm39)	unclassified	probably benign
R0178:Rbm17	UTSW	2	11,592,590 (GRCm39)	missense	probably benign	0.04
R0180:Rbm17	UTSW	2	11,592,590 (GRCm39)	missense	probably benign	0.04
R1457:Rbm17	UTSW	2	11,598,272 (GRCm39)	missense	probably benign	0.11
R1606:Rbm17	UTSW	2	11,600,208 (GRCm39)	missense	probably benign
R1672:Rbm17	UTSW	2	11,590,530 (GRCm39)	missense	possibly damaging	0.95
R1941:Rbm17	UTSW	2	11,593,885 (GRCm39)	missense	possibly damaging	0.95
R2327:Rbm17	UTSW	2	11,602,942 (GRCm39)	missense	probably damaging	1.00
R2859:Rbm17	UTSW	2	11,595,515 (GRCm39)	missense	possibly damaging	0.84
R5887:Rbm17	UTSW	2	11,590,485 (GRCm39)	missense	probably damaging	1.00
R6866:Rbm17	UTSW	2	11,602,901 (GRCm39)	missense	probably benign	0.06
R6985:Rbm17	UTSW	2	11,595,504 (GRCm39)	missense	probably benign
R8428:Rbm17	UTSW	2	11,605,441 (GRCm39)	missense	possibly damaging	0.80
Z1176:Rbm17	UTSW	2	11,601,579 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATGTTCACGGGAAAGGG -3'
(R):5'- CCTATGAATTATGCCCATGTATCC -3'

Sequencing Primer
(F):5'- CATGTTCACGGGAAAGGGAAAGC -3'
(R):5'- TTGCCAAGAGGAAGTCAT -3'

Posted On

2015-04-02