Mutagenetix > Incidental Mutation

Incidental Mutation 'R0594:Rnps1'

56172

Institutional Source

Beutler Lab

Gene Symbol

Rnps1

Ensembl Gene

ENSMUSG00000034681

Gene Name

RNA binding protein with serine rich domain 1

Synonyms

MMRRC Submission

038784-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0594 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

24633620-24644872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24643411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 215 (V215M)

Ref Sequence

ENSEMBL: ENSMUSP00000111028 (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 damaging
Transcript: ENSMUST00000088512
AA Change: V238M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085867
Gene: ENSMUSG00000034681
AA Change: V238M

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 damaging
Transcript: ENSMUST00000115371
AA Change: V215M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111028
Gene: ENSMUSG00000034681
AA Change: V215M

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 damaging
Transcript: ENSMUST00000163717
AA Change: V238M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126345
Gene: ENSMUSG00000034681
AA Change: V238M

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

Meta Mutation Damage Score

0.4430

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.6%

Validation Efficiency

99% (119/120)

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,207,744 (GRCm39)	V41A	probably benign	Het
Acad11	A	G	9: 103,972,762 (GRCm39)	Q367R	probably benign	Het
Ackr4	A	G	9: 103,976,203 (GRCm39)	V248A	possibly damaging	Het
Adamts14	T	C	10: 61,038,666 (GRCm39)	E945G	probably damaging	Het
Ano2	A	G	6: 125,959,728 (GRCm39)	M663V	probably damaging	Het
Apc2	T	A	10: 80,142,090 (GRCm39)	C336*	probably null	Het
Arhgap17	A	G	7: 122,893,741 (GRCm39)	S560P	probably benign	Het
Arl5a	T	C	2: 52,295,026 (GRCm39)	D128G	probably damaging	Het
Atp6v0a2	C	A	5: 124,795,046 (GRCm39)	R678S	probably benign	Het
B4galnt2	C	A	11: 95,782,735 (GRCm39)	A26S	probably benign	Het
C1qtnf1	A	T	11: 118,337,454 (GRCm39)	T95S	possibly damaging	Het
Ccdc188	T	A	16: 18,036,784 (GRCm39)	F241L	probably benign	Het
Cdh19	A	T	1: 110,853,597 (GRCm39)	D281E	probably benign	Het
Cdk5rap2	T	C	4: 70,273,050 (GRCm39)	E241G	probably damaging	Het
Cherp	A	T	8: 73,216,246 (GRCm39)		probably null	Het
Cpne9	T	A	6: 113,267,361 (GRCm39)		probably benign	Het
Cthrc1	A	T	15: 38,940,537 (GRCm39)	R47W	possibly damaging	Het
Dcaf13	A	G	15: 38,986,663 (GRCm39)	E145G	probably benign	Het
Dcaf4	T	A	12: 83,584,817 (GRCm39)		probably null	Het
Dgka	A	C	10: 128,568,979 (GRCm39)		probably benign	Het
Dhrs13	T	A	11: 77,925,351 (GRCm39)	F157L	probably damaging	Het
Dnajb5	A	T	4: 42,956,577 (GRCm39)	Y88F	probably damaging	Het
Dpp8	A	G	9: 64,944,280 (GRCm39)	T16A	probably damaging	Het
Dscc1	A	T	15: 54,952,448 (GRCm39)	I91K	possibly damaging	Het
Efemp2	T	A	19: 5,525,091 (GRCm39)		probably benign	Het
Elf2	T	C	3: 51,163,874 (GRCm39)	T504A	possibly damaging	Het
Elk3	G	A	10: 93,101,022 (GRCm39)	S243F	probably damaging	Het
Ell2	A	G	13: 75,898,112 (GRCm39)	D93G	probably damaging	Het
Eln	G	T	5: 134,741,252 (GRCm39)		probably benign	Het
Eme1	C	T	11: 94,541,256 (GRCm39)	D189N	possibly damaging	Het
Epb41l2	A	G	10: 25,319,668 (GRCm39)	E167G	possibly damaging	Het
Exoc5	A	T	14: 49,273,544 (GRCm39)		probably benign	Het
Fam170b	A	G	14: 32,558,271 (GRCm39)	K369E	unknown	Het
Fam187b	T	A	7: 30,676,579 (GRCm39)	C29*	probably null	Het
Fam20c	T	C	5: 138,752,392 (GRCm39)	S260P	possibly damaging	Het
Fam216b	G	A	14: 78,324,114 (GRCm39)	A21V	possibly damaging	Het
Fam98a	A	T	17: 75,845,482 (GRCm39)	Y421*	probably null	Het
Farp2	T	C	1: 93,504,222 (GRCm39)	V333A	probably damaging	Het
Fcgr1	T	C	3: 96,199,628 (GRCm39)	Y93C	probably damaging	Het
Fgd2	A	T	17: 29,584,526 (GRCm39)	I157F	probably damaging	Het
Frmd4b	T	A	6: 97,302,387 (GRCm39)		probably benign	Het
Fut9	T	C	4: 25,620,526 (GRCm39)	D96G	possibly damaging	Het
Glt8d1	G	A	14: 30,732,367 (GRCm39)		probably null	Het
Gm7579	T	A	7: 141,766,121 (GRCm39)	C176S	unknown	Het
Gmpr2	A	G	14: 55,915,445 (GRCm39)	E272G	probably damaging	Het
Grin2b	T	C	6: 135,710,927 (GRCm39)	H873R	probably damaging	Het
Gtf2i	C	T	5: 134,271,027 (GRCm39)		probably benign	Het
Htr3b	A	T	9: 48,858,931 (GRCm39)	V69E	probably benign	Het
Icam5	A	G	9: 20,946,894 (GRCm39)	N474S	probably benign	Het
Itgal	T	A	7: 126,913,232 (GRCm39)	S610T	probably damaging	Het
Jag1	T	A	2: 136,929,000 (GRCm39)	I819L	probably damaging	Het
Kif9	A	T	9: 110,340,408 (GRCm39)	E467V	probably benign	Het
Krit1	T	C	5: 3,873,694 (GRCm39)	L491P	possibly damaging	Het
Lipo2	T	G	19: 33,724,302 (GRCm39)	I155L	possibly damaging	Het
Lmbr1	A	G	5: 29,497,207 (GRCm39)	F65L	possibly damaging	Het
Lsp1	G	A	7: 142,042,687 (GRCm39)		probably benign	Het
Mgat5	T	A	1: 127,339,985 (GRCm39)	D455E	probably damaging	Het
Mical2	A	T	7: 111,917,657 (GRCm39)	Y338F	probably damaging	Het
Mre11a	T	G	9: 14,726,505 (GRCm39)	S396A	probably benign	Het
Mrtfa	G	A	15: 80,901,375 (GRCm39)	T372I	probably damaging	Het
Mtarc2	T	C	1: 184,573,536 (GRCm39)	N121D	probably benign	Het
Myo3a	C	T	2: 22,436,370 (GRCm39)		probably benign	Het
Naca	T	C	10: 127,876,224 (GRCm39)		probably benign	Het
Nav1	A	T	1: 135,395,381 (GRCm39)	I996K	possibly damaging	Het
Ncbp1	A	G	4: 46,170,551 (GRCm39)	N742S	probably benign	Het
Ndufaf3	G	A	9: 108,444,122 (GRCm39)	A2V	probably benign	Het
Niban3	C	A	8: 72,051,779 (GRCm39)	A38E	probably benign	Het
Ntn5	G	T	7: 45,336,105 (GRCm39)	A47S	probably damaging	Het
Or10ag57	T	A	2: 87,218,298 (GRCm39)	I83N	probably damaging	Het
Or1e25	G	A	11: 73,494,218 (GRCm39)	E271K	probably benign	Het
Or1e32	T	C	11: 73,705,443 (GRCm39)	H155R	probably benign	Het
Or2a7	T	A	6: 43,151,541 (GRCm39)	V207E	possibly damaging	Het
Or6c207	T	C	10: 129,105,021 (GRCm39)	Y57C	possibly damaging	Het
Or9i1	G	T	19: 13,839,643 (GRCm39)	C162F	probably benign	Het
Otud7a	T	A	7: 63,377,220 (GRCm39)	L203*	probably null	Het
Pakap	A	G	4: 57,856,752 (GRCm39)	T694A	probably benign	Het
Pcdhb13	A	G	18: 37,576,984 (GRCm39)	Y454C	probably damaging	Het
Pdzph1	C	T	17: 59,261,474 (GRCm39)	V853M	possibly damaging	Het
Plec	A	G	15: 76,056,453 (GRCm39)	S4517P	probably damaging	Het
Pm20d2	C	T	4: 33,181,746 (GRCm39)	E286K	probably damaging	Het
Polr2i	T	A	7: 29,932,170 (GRCm39)		probably null	Het
Ppp1r12b	A	G	1: 134,704,217 (GRCm39)	L879P	probably damaging	Het
Prf1	C	A	10: 61,139,501 (GRCm39)	Y486*	probably null	Het
Qsox2	T	G	2: 26,104,056 (GRCm39)	T325P	probably damaging	Het
Rab1b	G	T	19: 5,150,684 (GRCm39)		probably benign	Het
Rbm19	T	C	5: 120,266,381 (GRCm39)		probably null	Het
Rhobtb2	A	G	14: 70,031,397 (GRCm39)	V576A	probably benign	Het
Rps11	A	G	7: 44,773,706 (GRCm39)		probably benign	Het
Serpinb3d	C	T	1: 107,007,077 (GRCm39)	M210I	probably damaging	Het
Sgsm1	T	C	5: 113,458,428 (GRCm39)	T17A	probably benign	Het
Slc6a3	A	G	13: 73,686,761 (GRCm39)	T43A	probably damaging	Het
Sox4	C	G	13: 29,136,887 (GRCm39)	A40P	probably damaging	Het
Spry2	A	T	14: 106,130,744 (GRCm39)	D147E	possibly damaging	Het
Stpg1	A	G	4: 135,246,742 (GRCm39)	N157D	possibly damaging	Het
Sumf1	T	C	6: 108,150,375 (GRCm39)	D152G	probably benign	Het
Tbr1	T	C	2: 61,641,964 (GRCm39)	S410P	possibly damaging	Het
Tdrd6	A	G	17: 43,940,274 (GRCm39)	V258A	probably damaging	Het
Tirap	C	T	9: 35,100,057 (GRCm39)	G209D	probably damaging	Het
Tnfrsf8	A	T	4: 145,023,431 (GRCm39)	V134D	probably damaging	Het
Tnr	A	G	1: 159,677,905 (GRCm39)	T97A	probably benign	Het
Tspan32	T	A	7: 142,569,347 (GRCm39)	F135L	probably damaging	Het
Ttn	T	C	2: 76,619,400 (GRCm39)	K16021E	probably damaging	Het
Tusc3	T	A	8: 39,564,122 (GRCm39)	I251N	probably damaging	Het
Usp38	A	T	8: 81,731,995 (GRCm39)	I305N	probably damaging	Het
Usp4	T	A	9: 108,248,080 (GRCm39)		probably null	Het
Usp5	A	T	6: 124,794,387 (GRCm39)	D764E	probably damaging	Het
Vangl2	A	T	1: 171,832,224 (GRCm39)	V544E	probably damaging	Het
Vldlr	G	A	19: 27,212,219 (GRCm39)	V78M	probably damaging	Het
Vmn1r29	T	C	6: 58,284,757 (GRCm39)	V159A	probably benign	Het
Vmn2r16	T	A	5: 109,511,762 (GRCm39)	F656L	probably damaging	Het
Wdfy3	T	A	5: 102,054,051 (GRCm39)	I1590F	possibly damaging	Het
Xpo1	T	A	11: 23,230,402 (GRCm39)	V263E	probably damaging	Het
Zbtb38	A	G	9: 96,568,007 (GRCm39)	S1026P	probably damaging	Het
Zfp407	A	T	18: 84,580,692 (GRCm39)	D140E	possibly damaging	Het
Zfp637	T	A	6: 117,822,647 (GRCm39)	Y258*	probably null	Het
Zfp951	T	A	5: 104,962,438 (GRCm39)	Q376L	possibly damaging	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
IGL01433:Rnps1	APN	17	24,643,519 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GGTATGCTGACCTGACTTGCTGAC -3'
(R):5'- AGTACCACATGCTGACCTGCTTTC -3'

Sequencing Primer
(F):5'- gctgggctgaccttaatttg -3'
(R):5'- CTAAAAGTTACCACAGCCATTTAGG -3'

Posted On

2013-07-11