Mutagenetix > Incidental Mutations

Incidental Mutation 'R6866:Rbm17'

535897

Institutional Source

Beutler Lab

Gene Symbol

Rbm17

Ensembl Gene

ENSMUSG00000037197

Gene Name

RNA binding motif protein 17

Synonyms

2700027J02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11585437-11604153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 11598090 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 68 (I68L)

Ref Sequence

ENSEMBL: ENSMUSP00000117133 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040314
AA Change: I68L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000041831
Gene: ENSMUSG00000037197
AA Change: I68L

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
AA Change: I68L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	ACTGCACCACCT	ACT	10: 43,532,725		probably benign	Het
Alms1	A	G	6: 85,621,098	T1438A	possibly damaging	Het
Als2	T	A	1: 59,211,133	Q484L	probably damaging	Het
Apeh	G	A	9: 108,092,679	H186Y	probably damaging	Het
BC051142	T	A	17: 34,459,961	C216S	possibly damaging	Het
Bcl2l13	T	A	6: 120,862,889	N49K	probably benign	Het
Bptf	T	C	11: 107,073,580	D1596G	probably damaging	Het
Brsk1	T	C	7: 4,706,407	M325T	probably damaging	Het
C87499	T	A	4: 88,627,740	D455V	probably damaging	Het
Caly	T	C	7: 140,070,619	M137V	probably benign	Het
Cdca2	T	C	14: 67,693,666	E526G	possibly damaging	Het
Cnga4	A	G	7: 105,407,745	S352G	possibly damaging	Het
Cntnap5c	A	C	17: 58,092,294	T381P	probably benign	Het
Cr2	T	A	1: 195,151,691	Y633F	probably damaging	Het
Cryba1	T	C	11: 77,719,529	N120S	probably benign	Het
Cyfip2	G	A	11: 46,242,459	R805*	probably null	Het
Dnah7c	C	A	1: 46,657,243	P2095Q	probably damaging	Het
Eif3k	T	C	7: 28,977,226	E110G	possibly damaging	Het
Extl2	A	G	3: 116,027,352	M283V	probably damaging	Het
Extl2	T	A	3: 116,027,353	M283K	probably damaging	Het
Focad	T	C	4: 88,403,386	I1658T	probably benign	Het
Fstl5	A	T	3: 76,322,225	H111L	probably damaging	Het
Garnl3	A	G	2: 33,002,773		probably null	Het
Gm3633	T	A	14: 42,640,622		probably benign	Het
Il4i1	T	A	7: 44,836,539		probably null	Het
Kcnj6	A	T	16: 94,762,677	C321S	probably damaging	Het
Kif20a	A	T	18: 34,628,493	Y313F	probably benign	Het
Kmt2d	T	G	15: 98,857,393		probably benign	Het
Kynu	T	A	2: 43,563,110	Y48*	probably null	Het
Ly9	T	C	1: 171,605,279	I55M	probably damaging	Het
Mgme1	T	C	2: 144,276,519	V237A	probably damaging	Het
Mmp16	T	A	4: 17,853,800	L27H	probably benign	Het
Myh1	A	C	11: 67,224,393	D1918A	probably damaging	Het
Myo5a	G	A	9: 75,140,688	C266Y	probably damaging	Het
Nckap5l	A	G	15: 99,426,468	I718T	probably benign	Het
Nptx1	A	G	11: 119,546,650		probably null	Het
Olfr180	A	G	16: 58,915,988	Y218H	probably damaging	Het
Olfr502	A	G	7: 108,523,170	F260S	probably damaging	Het
Olfr682-ps1	T	A	7: 105,126,618	M228L	probably benign	Het
Phc3	T	A	3: 30,914,531	K783*	probably null	Het
Pkdrej	A	T	15: 85,820,881	C285S	probably damaging	Het
Pot1b	T	A	17: 55,653,474	T619S	possibly damaging	Het
Psg21	A	T	7: 18,652,284	V259E	probably damaging	Het
Pvr	A	C	7: 19,918,630	I120S	probably benign	Het
Rnf138	C	T	18: 21,002,142	P28L	probably damaging	Het
Rnf207	C	T	4: 152,312,532	C385Y	possibly damaging	Het
Serping1	A	C	2: 84,770,233	V255G	probably benign	Het
Slc25a3	A	T	10: 91,119,705	V91E	probably damaging	Het
Slc26a8	T	C	17: 28,638,481	D896G	probably benign	Het
Slc27a5	T	A	7: 12,997,516	T183S	probably benign	Het
Slc33a1	A	T	3: 63,943,323	F527I	probably benign	Het
Strn4	A	T	7: 16,828,785	D283V	probably damaging	Het
Sult1e1	G	A	5: 87,586,766	T107I	probably damaging	Het
Tango6	G	A	8: 106,742,472		probably null	Het
Tecrl	G	T	5: 83,313,314	P99T	probably damaging	Het
Ticrr	T	C	7: 79,693,957	L1190P	possibly damaging	Het
Timm50	C	T	7: 28,305,945	R349H	probably damaging	Het
Tjp2	A	G	19: 24,101,991	I840T	probably damaging	Het
Tmem173	T	C	18: 35,739,429	H50R	probably damaging	Het
Tmem45a2	T	A	16: 57,047,023	N105I	probably damaging	Het
Zfp148	T	A	16: 33,468,126	C162S	probably damaging	Het
Zfp534	T	C	4: 147,674,481	K577R	probably benign	Het

Other mutations in Rbm17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Rbm17	APN	2	11595438	unclassified	probably benign
R0178:Rbm17	UTSW	2	11587779	missense	probably benign	0.04
R0180:Rbm17	UTSW	2	11587779	missense	probably benign	0.04
R1457:Rbm17	UTSW	2	11593461	missense	probably benign	0.11
R1606:Rbm17	UTSW	2	11595397	missense	probably benign
R1672:Rbm17	UTSW	2	11585719	missense	possibly damaging	0.95
R1941:Rbm17	UTSW	2	11589074	missense	possibly damaging	0.95
R2327:Rbm17	UTSW	2	11598131	missense	probably damaging	1.00
R2859:Rbm17	UTSW	2	11590704	missense	possibly damaging	0.84
R3813:Rbm17	UTSW	2	11595435	unclassified	probably benign
R5887:Rbm17	UTSW	2	11585674	missense	probably damaging	1.00
R6985:Rbm17	UTSW	2	11590693	missense	probably benign
R8428:Rbm17	UTSW	2	11600630	missense	possibly damaging	0.80
Z1176:Rbm17	UTSW	2	11596768	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGTAAGCCTTGGGTTGAAAAC -3'
(R):5'- CTGTTTAAGGCTCATTTTATCATAGCC -3'

Sequencing Primer
(F):5'- TGCTCAGAGGTTAACAGTGCTCAC -3'
(R):5'- GCCAAAAATTTGTTACAGAGACCAG -3'

Posted On

2018-10-18