Mutagenetix > Incidental Mutations

Incidental Mutation 'R1606:Rbm17'

176452

Institutional Source

Beutler Lab

Gene Symbol

Rbm17

Ensembl Gene

ENSMUSG00000037197

Gene Name

RNA binding motif protein 17

Synonyms

2700027J02Rik

MMRRC Submission

039643-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11585437-11604153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11595397 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 147 (F147I)

Ref Sequence

ENSEMBL: ENSMUSP00000041831 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040314
AA Change: F147I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041831
Gene: ENSMUSG00000037197
AA Change: F147I

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: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,942,399	D1087N	probably damaging	Het
Abcc2	A	G	19: 43,836,652	D1459G	probably damaging	Het
Adhfe1	G	A	1: 9,553,473		probably null	Het
Adsl	C	T	15: 80,952,224	Q61*	probably null	Het
Arhgap26	T	A	18: 39,296,872	C214S	probably damaging	Het
Armc8	A	T	9: 99,537,729	N9K	probably damaging	Het
Asxl1	A	G	2: 153,400,455	D975G	probably damaging	Het
Atp8b3	T	C	10: 80,532,578	E187G	probably damaging	Het
Cdcp2	T	C	4: 107,102,513	S42P	probably damaging	Het
Chek1	A	G	9: 36,719,524	L198P	probably damaging	Het
Dlc1	A	G	8: 36,850,252	V423A	probably benign	Het
Dpy19l2	A	G	9: 24,581,215	S696P	probably benign	Het
Echdc3	A	T	2: 6,195,627	C183S	possibly damaging	Het
Exph5	A	C	9: 53,374,295	D892A	probably benign	Het
Fam120b	T	A	17: 15,401,811	I17K	possibly damaging	Het
Fbln5	C	T	12: 101,765,198	D246N	probably benign	Het
Fbxo15	A	C	18: 84,962,620	K195T	possibly damaging	Het
Fzd1	C	A	5: 4,757,514	E23*	probably null	Het
Gas2l1	C	A	11: 5,064,434	A9S	probably damaging	Het
Gcc2	C	T	10: 58,269,448	L69F	probably damaging	Het
Ggt6	C	T	11: 72,437,733	A353V	possibly damaging	Het
Gm340	T	G	19: 41,585,074	M756R	probably benign	Het
Gphn	T	A	12: 78,683,883	V764E	probably damaging	Het
Grid1	A	T	14: 35,445,965	Y482F	probably damaging	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,044	V338M	probably benign	Het
Klhl14	T	A	18: 21,565,532	Q408L	possibly damaging	Het
Lacc1	T	A	14: 77,029,641	Q394L	probably benign	Het
Lipe	A	G	7: 25,388,144	F477L	probably damaging	Het
Lrig2	A	G	3: 104,480,107		probably null	Het
Megf8	T	A	7: 25,358,695	H2131Q	probably damaging	Het
Nek1	A	G	8: 61,124,276	D1097G	possibly damaging	Het
Nhlrc3	A	T	3: 53,458,657	Y138*	probably null	Het
Nudcd2	T	A	11: 40,736,007		probably null	Het
Numb	T	C	12: 83,801,010		probably null	Het
Olfr871	T	G	9: 20,212,946	L199R	probably benign	Het
Pacrg	G	A	17: 10,839,838	Q11*	probably null	Het
Ppp1r37	A	T	7: 19,534,999	M192K	probably damaging	Het
Prmt8	T	A	6: 127,689,836	K392*	probably null	Het
Rab28	A	T	5: 41,698,452	W67R	probably damaging	Het
Rad21l	C	T	2: 151,654,686	C365Y	probably damaging	Het
Rbm46	A	C	3: 82,864,541	F256V	probably damaging	Het
Rcc1	A	T	4: 132,334,776		probably null	Het
Rnf217	G	T	10: 31,534,811	T296N	possibly damaging	Het
Rnmt	A	G	18: 68,311,653	D231G	possibly damaging	Het
Rph3al	C	T	11: 75,906,541	V110I	probably damaging	Het
Rxfp2	T	C	5: 150,059,897	M289T	probably benign	Het
Sash1	T	C	10: 8,729,957	R890G	probably benign	Het
Sf3b2	A	T	19: 5,287,998	D245E	probably benign	Het
Skint9	A	T	4: 112,389,201	V238E	probably benign	Het
Slc26a8	T	A	17: 28,638,481	D896V	possibly damaging	Het
Slc35b4	T	A	6: 34,158,388	K330*	probably null	Het
Slco1a4	G	T	6: 141,839,611	H84Q	probably damaging	Het
Sptbn2	G	T	19: 4,750,242		probably null	Het
St6galnac3	A	T	3: 153,206,668	D227E	probably benign	Het
Tek	G	A	4: 94,849,767	D685N	probably damaging	Het
Trf	G	T	9: 103,225,136		probably null	Het
Trpm5	T	A	7: 143,085,171	K288*	probably null	Het
Ttn	C	T	2: 76,737,012	V27846I	probably damaging	Het
Tyr	A	T	7: 87,437,971	D444E	probably benign	Het
Ucp1	C	A	8: 83,295,304	A255E	probably damaging	Het
Ush2a	A	G	1: 188,759,766	D3084G	probably benign	Het
Yeats4	T	C	10: 117,217,439	Y139C	probably damaging	Het
Zbtb6	A	G	2: 37,429,118	V266A	probably benign	Het
Zfp784	A	T	7: 5,035,775	N261K	possibly damaging	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
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
R6866:Rbm17	UTSW	2	11598090	missense	probably benign	0.06
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'- GTGGACTGGTGAGAATCTAGGGCA -3'
(R):5'- CCTTTCCTACTTTTGAGCCAGGTGAAAT -3'

Sequencing Primer
(F):5'- TGAGAATCTAGGGCACTGGC -3'
(R):5'- GGGCTCTGTCCTAATGTATCAG -3'

Posted On

2014-04-24