Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02021:Rbm17'

183986

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm17

Ensembl Gene

ENSMUSG00000037197

Gene Name

RNA binding motif protein 17

Synonyms

2700027J02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL02021

Quality Score

Status

Chromosome

Chromosomal Location

11590250-11608061 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 11600249 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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002L01Rik	G	A	12: 3,457,890 (GRCm39)		probably benign	Het
Adam10	C	T	9: 70,651,191 (GRCm39)	T72I	possibly damaging	Het
Adam26b	T	A	8: 43,972,909 (GRCm39)	M698L	probably benign	Het
Ankrd27	A	T	7: 35,313,881 (GRCm39)	H404L	probably damaging	Het
Atp1a1	T	C	3: 101,501,524 (GRCm39)	S60G	probably benign	Het
Bcat1	T	C	6: 144,993,015 (GRCm39)		probably benign	Het
Cd177	G	A	7: 24,444,631 (GRCm39)	A650V	probably benign	Het
Cmya5	T	C	13: 93,231,057 (GRCm39)	N1344D	probably benign	Het
Ctsd	G	T	7: 141,939,213 (GRCm39)	L71I	probably damaging	Het
Dctn2	T	C	10: 127,110,926 (GRCm39)		probably null	Het
Ddr1	G	A	17: 35,994,372 (GRCm39)	A801V	probably damaging	Het
Dennd2b	T	C	7: 109,156,579 (GRCm39)	Y57C	probably damaging	Het
Duoxa1	A	G	2: 122,135,127 (GRCm39)	F251S	probably benign	Het
Fcho1	A	C	8: 72,173,919 (GRCm39)	S2A	probably benign	Het
Gm4861	T	C	3: 137,257,871 (GRCm39)		probably null	Het
Gm4922	C	A	10: 18,660,225 (GRCm39)	G166W	probably damaging	Het
Hic2	A	G	16: 17,076,617 (GRCm39)	E482G	probably benign	Het
Hoxa5	C	T	6: 52,179,637 (GRCm39)	R246K	probably damaging	Het
Ipo11	A	T	13: 106,993,745 (GRCm39)	F721I	probably damaging	Het
Lama1	A	T	17: 68,128,621 (GRCm39)	S2993C	probably damaging	Het
Lonp2	T	A	8: 87,435,599 (GRCm39)	S612T	probably benign	Het
Lpar5	T	G	6: 125,058,955 (GRCm39)	Y225*	probably null	Het
Map4k3	A	G	17: 80,917,255 (GRCm39)	Y574H	probably damaging	Het
Msantd4	A	G	9: 4,385,163 (GRCm39)	E296G	probably damaging	Het
Ncs1	A	G	2: 31,174,177 (GRCm39)	D109G	probably damaging	Het
Nnt	T	C	13: 119,472,783 (GRCm39)		probably benign	Het
Nr1h5	T	C	3: 102,855,058 (GRCm39)		probably benign	Het
Or2ag20	A	T	7: 106,464,696 (GRCm39)	K170*	probably null	Het
Or4g7	A	G	2: 111,309,825 (GRCm39)	D232G	probably benign	Het
Plk4	A	G	3: 40,765,143 (GRCm39)	D595G	probably damaging	Het
Slc24a3	T	A	2: 145,360,836 (GRCm39)	I193N	probably damaging	Het
Stat5a	G	T	11: 100,774,715 (GRCm39)	V759F	probably damaging	Het
Tgfbi	T	A	13: 56,779,166 (GRCm39)	L463Q	probably damaging	Het
Tigar	G	T	6: 127,066,253 (GRCm39)	A95E	probably damaging	Het
Tph1	A	G	7: 46,306,421 (GRCm39)	I180T	possibly damaging	Het
Usp22	T	A	11: 61,045,325 (GRCm39)	Y517F	probably damaging	Het
Vmn2r105	A	C	17: 20,448,157 (GRCm39)	I222M	possibly damaging	Het
Wapl	A	G	14: 34,444,293 (GRCm39)	I582V	probably benign	Het
Zfp217	A	G	2: 169,957,069 (GRCm39)	V643A	probably benign	Het

Other mutations in Rbm17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R3813:Rbm17	UTSW	2	11,600,246 (GRCm39)	unclassified	probably benign
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

Posted On

2014-05-07