Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4354001:Rbpms'

554821

Institutional Source

Beutler Lab

Gene Symbol

Rbpms

Ensembl Gene

ENSMUSG00000031586

Gene Name

RNA binding protein gene with multiple splicing

Synonyms

2700019M19Rik, hermes, 2010300K22Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.656) question?

Stock #

PIT4354001 (G1)

Quality Score

139.008

Status

Not validated

Chromosome

Chromosomal Location

34272671-34419891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34296866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 137 (V137A)

Ref Sequence

ENSEMBL: ENSMUSP00000033995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033994] [ENSMUST00000033995] [ENSMUST00000053251] [ENSMUST00000182256] [ENSMUST00000182987] [ENSMUST00000183062] [ENSMUST00000183088] [ENSMUST00000183336] [ENSMUST00000191473]

AlphaFold

Q9WVB0

Predicted Effect

probably benign
Transcript: ENSMUST00000033994

SMART Domains

Protein: ENSMUSP00000033994
Gene: ENSMUSG00000031586

Domain	Start	End	E-Value	Type
RRM	25	97	7.84e-8	SMART
low complexity region	149	172	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033995
AA Change: V137A

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033995
Gene: ENSMUSG00000031586
AA Change: V137A

Domain	Start	End	E-Value	Type
RRM	25	97	7.84e-8	SMART
low complexity region	149	172	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000053251
AA Change: V137A

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

SMART Domains

Protein: ENSMUSP00000055813
Gene: ENSMUSG00000031586
AA Change: V137A

Domain	Start	End	E-Value	Type
RRM	25	97	7.84e-8	SMART
low complexity region	149	172	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182256
AA Change: V33A

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

SMART Domains

Protein: ENSMUSP00000138140
Gene: ENSMUSG00000031586
AA Change: V33A

Domain	Start	End	E-Value	Type
low complexity region	45	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182926

Predicted Effect

probably damaging
Transcript: ENSMUST00000182987
AA Change: V137A

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

SMART Domains

Protein: ENSMUSP00000138483
Gene: ENSMUSG00000031586
AA Change: V137A

Domain	Start	End	E-Value	Type
RRM	25	97	7.84e-8	SMART
low complexity region	149	172	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000183062
AA Change: V33A

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

SMART Domains

Protein: ENSMUSP00000138726
Gene: ENSMUSG00000031586
AA Change: V33A

Domain	Start	End	E-Value	Type
low complexity region	45	63	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183088
AA Change: V135A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138420
Gene: ENSMUSG00000031586
AA Change: V135A

Domain	Start	End	E-Value	Type
RRM	23	95	7.84e-8	SMART
low complexity region	147	159	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183336

SMART Domains

Protein: ENSMUSP00000138533
Gene: ENSMUSG00000031586

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191473
AA Change: V137A

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

SMART Domains

Protein: ENSMUSP00000140387
Gene: ENSMUSG00000031586
AA Change: V137A

Domain	Start	End	E-Value	Type
RRM	25	97	7.84e-8	SMART
low complexity region	149	172	N/A	INTRINSIC

Coding Region Coverage

1x: 92.5%
3x: 90.1%
10x: 83.2%
20x: 69.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	A	T	5: 62,811,392 (GRCm39)	Y1140N	probably damaging	Het
Ccdc83	A	T	7: 89,873,182 (GRCm39)	M391K	probably benign	Het
Cntnap1	A	T	11: 101,072,123 (GRCm39)	I459F	probably damaging	Het
Cr2	T	A	1: 194,848,617 (GRCm39)	Y302F	probably damaging	Het
Ctu2	A	T	8: 123,205,714 (GRCm39)	D179V	probably damaging	Het
Cubn	G	A	2: 13,473,663 (GRCm39)	Q427*	probably null	Het
Depdc7	A	G	2: 104,558,533 (GRCm39)	S163P	probably benign	Het
Eif2s3y	C	T	Y: 1,020,126 (GRCm39)	R385C	probably benign	Het
Gigyf1	A	G	5: 137,522,366 (GRCm39)	K728R	unknown	Het
Gm1587	G	A	14: 78,034,473 (GRCm39)	R32*	probably null	Het
Hjv	T	C	3: 96,435,761 (GRCm39)	C340R	probably damaging	Het
Isy1	A	G	6: 87,810,653 (GRCm39)	I53T	possibly damaging	Het
Myh8	A	T	11: 67,180,456 (GRCm39)	N564I	probably benign	Het
Neb	A	T	2: 52,135,330 (GRCm39)	I3260N	probably damaging	Het
Npc1	C	T	18: 12,344,592 (GRCm39)	G426E	probably benign	Het
Nrdc	G	A	4: 108,911,222 (GRCm39)		probably null	Het
Or2v1	G	A	11: 49,025,132 (GRCm39)	V38M	probably damaging	Het
Or4c10b	T	A	2: 89,711,852 (GRCm39)	S227R	probably benign	Het
Or4c116	C	A	2: 88,942,830 (GRCm39)	E9*	probably null	Het
Pate8	T	A	9: 36,492,597 (GRCm39)	S103C	possibly damaging	Het
Prss51	T	A	14: 64,334,546 (GRCm39)	V91D	probably damaging	Het
Qpct	A	C	17: 79,389,188 (GRCm39)	Y280S	probably benign	Het
Rgl2	T	A	17: 34,152,914 (GRCm39)	M441K	possibly damaging	Het
Sdhaf3	A	T	6: 6,956,072 (GRCm39)	I16F	possibly damaging	Het
Slc38a3	T	G	9: 107,534,848 (GRCm39)	N176H	probably benign	Het
Sos1	T	C	17: 80,756,785 (GRCm39)	S256G	possibly damaging	Het
Spg11	A	T	2: 121,918,666 (GRCm39)	C988S	probably damaging	Het
Sync	A	T	4: 129,200,447 (GRCm39)	Q451L	possibly damaging	Het
Tbc1d31	A	G	15: 57,831,329 (GRCm39)	Y929C	probably benign	Het
Thbs2	G	A	17: 14,910,230 (GRCm39)	T123I	probably damaging	Het
Thsd7a	A	C	6: 12,331,926 (GRCm39)		probably null	Het
Tnfrsf11a	T	C	1: 105,749,242 (GRCm39)	L220P	probably damaging	Het
Trbv13-2	G	A	6: 41,098,752 (GRCm39)	C109Y	probably damaging	Het
Ugt3a1	G	A	15: 9,306,446 (GRCm39)	W198*	probably null	Het
Usp14	G	A	18: 9,996,189 (GRCm39)	R464W	probably damaging	Het
Vmn1r2	C	T	4: 3,172,162 (GRCm39)	S27L	probably benign	Het
Vmn1r68	T	A	7: 10,261,958 (GRCm39)	N47Y	probably benign	Het
Zfc3h1	T	A	10: 115,262,944 (GRCm39)	Y1719*	probably null	Het

Other mutations in Rbpms

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0637:Rbpms	UTSW	8	34,296,864 (GRCm39)	missense	probably damaging	1.00
R1183:Rbpms	UTSW	8	34,294,100 (GRCm39)	missense	possibly damaging	0.83
R2850:Rbpms	UTSW	8	34,324,405 (GRCm39)	missense	possibly damaging	0.94
R6722:Rbpms	UTSW	8	34,324,421 (GRCm39)	missense	probably damaging	1.00
R7576:Rbpms	UTSW	8	34,356,416 (GRCm39)	missense	probably damaging	1.00
R7689:Rbpms	UTSW	8	34,354,387 (GRCm39)	missense	possibly damaging	0.58
R7699:Rbpms	UTSW	8	34,354,391 (GRCm39)	missense	probably damaging	1.00
R7763:Rbpms	UTSW	8	34,279,481 (GRCm39)	missense	probably benign
R7909:Rbpms	UTSW	8	34,354,387 (GRCm39)	missense	probably damaging	1.00
R9374:Rbpms	UTSW	8	34,294,173 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- ACTTCCTGGAGGTGGATCTG -3'
(R):5'- TTTGTGGGAAGCAAAGCATC -3'

Sequencing Primer
(F):5'- ACCGGGTCTGAAAGGGCTG -3'
(R):5'- TTTGTGGGAAGCAAAGCATCAGATTG -3'

Posted On

2019-06-07