Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01433:Rnps1'

84259

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnps1

Ensembl Gene

ENSMUSG00000034681

Gene Name

RNA binding protein with serine rich domain 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01433

Quality Score

Status

Chromosome

Chromosomal Location

24633620-24644872 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 24643519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024946] [ENSMUST00000088512] [ENSMUST00000115371] [ENSMUST00000163717]

AlphaFold

Q99M28

Predicted Effect

probably benign
Transcript: ENSMUST00000024946

SMART Domains

Protein: ENSMUSP00000024946
Gene: ENSMUSG00000024132

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
Pfam:ECH_1	39	288	3.2e-96	PFAM
Pfam:ECH_2	44	289	5.1e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000088512

SMART Domains

Protein: ENSMUSP00000085867
Gene: ENSMUSG00000034681

Domain	Start	End	E-Value	Type
low complexity region	30	46	N/A	INTRINSIC
low complexity region	55	157	N/A	INTRINSIC
RRM	162	236	5.12e-21	SMART
low complexity region	243	305	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115371

SMART Domains

Protein: ENSMUSP00000111028
Gene: ENSMUSG00000034681

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	32	134	N/A	INTRINSIC
RRM	139	213	5.12e-21	SMART
low complexity region	220	282	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000163717

SMART Domains

Protein: ENSMUSP00000126345
Gene: ENSMUSG00000034681

Domain	Start	End	E-Value	Type
low complexity region	30	46	N/A	INTRINSIC
low complexity region	55	157	N/A	INTRINSIC
RRM	162	236	5.12e-21	SMART
low complexity region	243	305	N/A	INTRINSIC

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 a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	C	T	3: 30,652,188 (GRCm39)	G302D	probably damaging	Het
Adam19	T	C	11: 46,003,610 (GRCm39)	L146P	probably damaging	Het
Adcy8	T	A	15: 64,609,263 (GRCm39)	Y852F	possibly damaging	Het
Arfgef1	T	C	1: 10,223,657 (GRCm39)	T1520A	probably damaging	Het
Atp8b1	C	T	18: 64,706,590 (GRCm39)	V199I	probably benign	Het
Avl9	A	G	6: 56,730,382 (GRCm39)	D575G	probably damaging	Het
Bcam	C	A	7: 19,494,107 (GRCm39)	V395L	possibly damaging	Het
Bltp1	T	G	3: 36,941,919 (GRCm39)	S241R	probably damaging	Het
Ccdc198	G	T	14: 49,473,341 (GRCm39)	T128K	probably benign	Het
Cgn	T	A	3: 94,686,769 (GRCm39)	N178Y	probably damaging	Het
D5Ertd579e	A	T	5: 36,776,098 (GRCm39)	D168E	probably damaging	Het
Dnah17	G	T	11: 117,940,760 (GRCm39)	T3288K	probably damaging	Het
Ednrb	A	T	14: 104,080,626 (GRCm39)	I96N	probably damaging	Het
Gdpd3	A	G	7: 126,370,356 (GRCm39)	I264V	possibly damaging	Het
Itih4	T	C	14: 30,617,405 (GRCm39)	V575A	probably benign	Het
Jhy	G	A	9: 40,828,512 (GRCm39)	R465C	possibly damaging	Het
Kcna4	C	T	2: 107,127,078 (GRCm39)	S604F	probably damaging	Het
Kcnj6	A	G	16: 94,633,814 (GRCm39)	V99A	probably benign	Het
Kdm2a	A	G	19: 4,392,888 (GRCm39)	I489T	possibly damaging	Het
Kif13a	A	G	13: 46,926,384 (GRCm39)	S241P	probably damaging	Het
Lax1	T	C	1: 133,608,137 (GRCm39)	I201M	probably benign	Het
Lzic	T	A	4: 149,572,604 (GRCm39)	S65T	probably benign	Het
Marchf9	T	C	10: 126,892,562 (GRCm39)	T309A	probably benign	Het
Ndufc1	T	C	3: 51,314,797 (GRCm39)	K70E	possibly damaging	Het
Optn	T	C	2: 5,031,955 (GRCm39)	K504R	probably benign	Het
Or51q1	A	T	7: 103,628,539 (GRCm39)	I53F	probably damaging	Het
Pagr1a	A	G	7: 126,614,647 (GRCm39)		probably benign	Het
Pold1	G	A	7: 44,192,656 (GRCm39)		probably benign	Het
Ptprq	A	G	10: 107,412,741 (GRCm39)	I1786T	probably damaging	Het
Rgs20	T	C	1: 5,140,300 (GRCm39)	D34G	possibly damaging	Het
Rpgrip1	T	C	14: 52,363,834 (GRCm39)	V261A	probably damaging	Het
Sfxn1	A	G	13: 54,247,935 (GRCm39)	N220S	probably benign	Het
Slc35f1	T	A	10: 52,949,542 (GRCm39)		probably benign	Het
Slc5a4b	T	C	10: 75,906,329 (GRCm39)		probably benign	Het
Snx19	A	G	9: 30,340,067 (GRCm39)	I402V	possibly damaging	Het
Spaca6	T	C	17: 18,051,429 (GRCm39)	V35A	probably benign	Het
Taar2	A	G	10: 23,816,657 (GRCm39)	T66A	probably benign	Het
Tanc2	C	T	11: 105,701,348 (GRCm39)	H288Y	possibly damaging	Het
Tbc1d31	A	G	15: 57,804,164 (GRCm39)	Q393R	probably benign	Het
Trpm1	A	G	7: 63,854,276 (GRCm39)	Y133C	probably damaging	Het
Vmn2r105	T	C	17: 20,448,817 (GRCm39)	D120G	probably benign	Het
Vmn2r56	C	A	7: 12,449,541 (GRCm39)	M232I	probably benign	Het
Vps35l	A	G	7: 118,373,274 (GRCm39)		probably null	Het
Zfp251	C	T	15: 76,738,755 (GRCm39)	V113I	probably benign	Het

Other mutations in Rnps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Rnps1	APN	17	24,641,273 (GRCm39)	missense	probably damaging	1.00
IGL01984:Rnps1	APN	17	24,643,371 (GRCm39)	splice site	probably benign
IGL03410:Rnps1	APN	17	24,640,835 (GRCm39)	splice site	probably benign
unbalanced	UTSW	17	24,641,142 (GRCm39)	missense	probably damaging	1.00
R0594:Rnps1	UTSW	17	24,643,411 (GRCm39)	missense	probably damaging	0.99
R1397:Rnps1	UTSW	17	24,631,031 (GRCm39)	unclassified	probably benign
R1938:Rnps1	UTSW	17	24,639,364 (GRCm39)	missense	unknown
R2321:Rnps1	UTSW	17	24,641,142 (GRCm39)	missense	probably damaging	1.00
R3085:Rnps1	UTSW	17	24,631,393 (GRCm39)	unclassified	probably benign
R3086:Rnps1	UTSW	17	24,631,393 (GRCm39)	unclassified	probably benign
R4296:Rnps1	UTSW	17	24,644,089 (GRCm39)	unclassified	probably benign
R5159:Rnps1	UTSW	17	24,637,486 (GRCm39)	missense	unknown
R5193:Rnps1	UTSW	17	24,637,517 (GRCm39)	missense	probably benign	0.23
R5753:Rnps1	UTSW	17	24,637,138 (GRCm39)	intron	probably benign
R7378:Rnps1	UTSW	17	24,637,504 (GRCm39)	missense	unknown
R7403:Rnps1	UTSW	17	24,644,061 (GRCm39)	missense	unknown
R7690:Rnps1	UTSW	17	24,637,168 (GRCm39)	missense	unknown
R8104:Rnps1	UTSW	17	24,643,484 (GRCm39)	missense	unknown
R8425:Rnps1	UTSW	17	24,637,143 (GRCm39)	missense	unknown
R8936:Rnps1	UTSW	17	24,641,176 (GRCm39)	missense	probably damaging	1.00
R9005:Rnps1	UTSW	17	24,637,496 (GRCm39)	missense	unknown
R9109:Rnps1	UTSW	17	24,637,573 (GRCm39)	missense	unknown

Posted On

2013-11-11