Mutagenetix > Incidental Mutations

Incidental Mutation 'R6985:Rbm17'

542885

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 #

R6985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11585437-11604153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 11590693 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 234 (M234L)

Ref Sequence

ENSEMBL: ENSMUSP00000041831 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040314
AA Change: M234L

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

SMART Domains

Protein: ENSMUSP00000041831
Gene: ENSMUSG00000037197
AA Change: M234L

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

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

100% (66/66)

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
Akirin1	A	G	4: 123,736,856	*192R	probably null	Het
Ankar	A	C	1: 72,658,482	L836R	probably damaging	Het
Anxa7	G	T	14: 20,471,568	A20E	unknown	Het
Arhgap1	T	A	2: 91,668,198	Y147N	probably damaging	Het
Arid2	T	C	15: 96,370,148	V714A	probably benign	Het
Arrdc3	T	C	13: 80,883,657	L3P	probably damaging	Het
Bhmt2	T	C	13: 93,663,322	D202G	possibly damaging	Het
Bub1b	A	G	2: 118,606,614	R98G	probably damaging	Het
Capn10	T	C	1: 92,943,424	Y319H	probably damaging	Het
Cep95	T	C	11: 106,818,703	F115S	probably damaging	Het
Chsy3	A	T	18: 59,176,488		probably null	Het
Cnot1	T	C	8: 95,734,129	N1755S	probably benign	Het
Cntn4	A	G	6: 106,679,417	N893S	probably benign	Het
Ctsh	G	A	9: 90,054,604	A19T	possibly damaging	Het
Cttn	C	A	7: 144,452,587	E214*	probably null	Het
Des	A	G	1: 75,366,787	E438G	possibly damaging	Het
Dnaja4	T	C	9: 54,708,395	V109A	probably benign	Het
Dock1	A	G	7: 135,163,403	E1708G	possibly damaging	Het
Dst	T	C	1: 34,190,853	I2184T	probably benign	Het
Enc1	C	T	13: 97,245,120	T46I	possibly damaging	Het
Etaa1	A	G	11: 17,946,108	S670P	probably damaging	Het
Fam168b	G	A	1: 34,819,708	T131M	probably damaging	Het
Fbn2	A	T	18: 58,068,388	V1319E	probably damaging	Het
Fcrl1	T	A	3: 87,389,650	V302E	probably benign	Het
Fgfr3	G	C	5: 33,735,441	E744Q	probably null	Het
Gmps	T	A	3: 64,015,539	I641N	probably damaging	Het
Gpc2	T	A	5: 138,278,408	Y152F	probably damaging	Het
Herc2	G	A	7: 56,106,453	R747H	possibly damaging	Het
Herc2	A	G	7: 56,132,480	D1305G	probably damaging	Het
Ighv1-37	T	C	12: 114,896,632	T14A	probably benign	Het
Insr	T	A	8: 3,161,372	M1156L	possibly damaging	Het
Kirrel2	C	A	7: 30,455,306	G127C	probably damaging	Het
Krt10	T	C	11: 99,385,630	N65S	possibly damaging	Het
Lrig3	A	G	10: 126,014,869	I1101M	possibly damaging	Het
Lrrc55	T	G	2: 85,191,930	N306H	probably benign	Het
Map4k3	A	G	17: 80,636,732	S329P	probably damaging	Het
Mapkap1	T	G	2: 34,432,110	H13Q	probably damaging	Het
Mki67	A	G	7: 135,713,865	L60S	probably damaging	Het
Muc4	A	T	16: 32,751,999	M626L	probably benign	Het
Mycbp2	C	T	14: 103,206,681	V1914I	possibly damaging	Het
Myo5b	T	C	18: 74,653,361	F442L	possibly damaging	Het
Naa35	T	A	13: 59,627,943	M545K	probably benign	Het
Nrxn2	T	A	19: 6,481,245	V645E	probably damaging	Het
Olfr313	T	C	11: 58,817,113	F35S	probably damaging	Het
Olfr619	A	G	7: 103,603,668	T5A	probably benign	Het
Otx1	A	T	11: 21,996,615	Y231*	probably null	Het
Pcdhb19	A	G	18: 37,497,158	E2G	probably benign	Het
Pik3c2a	G	A	7: 116,417,988	T178I	probably damaging	Het
Plxna4	A	G	6: 32,237,708	S613P	probably damaging	Het
Pon1	T	G	6: 5,168,345	D354A	probably benign	Het
Prtg	T	G	9: 72,851,501	I379S	probably damaging	Het
Rex1bd	T	C	8: 70,505,905	S71G	probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Samd7	G	C	3: 30,751,123	K18N	probably benign	Het
Shank1	A	G	7: 44,344,913	I833V	unknown	Het
Slc35f1	C	A	10: 53,021,911	D139E	probably benign	Het
Spata31d1a	T	C	13: 59,703,093	N407S	probably benign	Het
Spata31d1d	T	A	13: 59,731,615	I36F	probably benign	Het
Sstr4	T	A	2: 148,396,249	M260K	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Ticam1	C	T	17: 56,269,900	E732K	probably benign	Het
Trat1	A	G	16: 48,754,271	Y55H	probably damaging	Het
Vcan	T	C	13: 89,679,956	T3124A	probably damaging	Het
Wdfy4	A	T	14: 33,099,117	F1385Y	possibly damaging	Het
Xrcc3	T	C	12: 111,812,096	D7G	probably 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
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
R6866:Rbm17	UTSW	2	11598090	missense	probably benign	0.06
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'- GTATTGCTCTAGAAATCCAAGTGG -3'
(R):5'- TGGAAGCCAGTGAACCTTCTG -3'

Sequencing Primer
(F):5'- GGATTCATTTTCAAAAGAGTTCCACC -3'
(R):5'- AACCTTCTGGGGTTTTCGC -3'

Posted On

2018-11-28