Mutagenetix > Incidental Mutation

Incidental Mutation 'R6722:Rbpms'

529635

Institutional Source

Beutler Lab

Gene Symbol

Rbpms

Ensembl Gene

ENSMUSG00000031586

Gene Name

RNA binding protein gene with multiple splicing

Synonyms

2700019M19Rik, hermes, 2010300K22Rik

MMRRC Submission

044840-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.656) question?

Stock #

R6722 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34272671-34419891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34324421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 101 (T101K)

Ref Sequence

ENSEMBL: ENSMUSP00000138420 (fasta)

Gene Model

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

AlphaFold

Q9WVB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000033994
AA Change: T103K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033994
Gene: ENSMUSG00000031586
AA Change: T103K

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: ENSMUST00000033995
AA Change: T103K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033995
Gene: ENSMUSG00000031586
AA Change: T103K

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: T103K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055813
Gene: ENSMUSG00000031586
AA Change: T103K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182184

Predicted Effect

probably benign
Transcript: ENSMUST00000182256

SMART Domains

Protein: ENSMUSP00000138140
Gene: ENSMUSG00000031586

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000182987
AA Change: T103K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138483
Gene: ENSMUSG00000031586
AA Change: T103K

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: ENSMUST00000183088
AA Change: T101K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138420
Gene: ENSMUSG00000031586
AA Change: T101K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000191473
AA Change: T103K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140387
Gene: ENSMUSG00000031586
AA Change: T103K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183062

SMART Domains

Protein: ENSMUSP00000138726
Gene: ENSMUSG00000031586

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231786

Meta Mutation Damage Score

0.2857

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (52/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	G	12: 81,468,228 (GRCm39)	D131A	probably damaging	Het
Ank3	T	C	10: 69,826,074 (GRCm39)		probably benign	Het
Atp1a4	T	C	1: 172,085,617 (GRCm39)		probably benign	Het
Bmal2	T	A	6: 146,720,398 (GRCm39)	D187E	probably damaging	Het
Castor2	T	C	5: 134,164,458 (GRCm39)	S140P	probably benign	Het
Ccdc162	T	C	10: 41,520,637 (GRCm39)	N673S	probably benign	Het
Cd84	G	A	1: 171,700,344 (GRCm39)	V154M	probably damaging	Het
Celsr1	C	A	15: 85,790,115 (GRCm39)		probably null	Het
Cfap57	A	C	4: 118,441,914 (GRCm39)	L718R	probably damaging	Het
Cntnap5b	G	A	1: 100,406,211 (GRCm39)	V803M	probably damaging	Het
Col6a2	C	T	10: 76,450,392 (GRCm39)	V180I	probably damaging	Het
Coq4	A	T	2: 29,678,297 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,012,983 (GRCm39)	T389A	probably benign	Het
Dennd1c	T	C	17: 57,373,802 (GRCm39)	D587G	probably benign	Het
Dnaja4	A	G	9: 54,607,038 (GRCm39)	D9G	probably damaging	Het
Hes2	T	G	4: 152,244,834 (GRCm39)	L101R	probably damaging	Het
Icam2	A	G	11: 106,273,307 (GRCm39)	S2P	probably damaging	Het
Krt31	A	G	11: 99,939,254 (GRCm39)	L221P	probably damaging	Het
Lipm	A	T	19: 34,098,665 (GRCm39)	N380Y	probably benign	Het
Lrp2bp	G	A	8: 46,473,600 (GRCm39)		probably null	Het
Mbd2	T	A	18: 70,713,819 (GRCm39)	M216K	probably damaging	Het
Mrps33	T	C	6: 39,782,599 (GRCm39)		probably benign	Het
Nbeal2	T	C	9: 110,462,060 (GRCm39)	D1459G	probably damaging	Het
Ncapd3	T	C	9: 26,998,852 (GRCm39)	S1281P	probably benign	Het
Nt5c1b	T	A	12: 10,422,874 (GRCm39)	Y56N	possibly damaging	Het
Nthl1	A	G	17: 24,853,008 (GRCm39)	K71E	probably benign	Het
Or4f62	T	A	2: 111,987,227 (GRCm39)	N310K	probably benign	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pde4a	G	A	9: 21,122,521 (GRCm39)	A806T	probably damaging	Het
Pde4d	C	A	13: 109,769,432 (GRCm39)	S40*	probably null	Het
Pde4dip	G	A	3: 97,625,555 (GRCm39)	R1348*	probably null	Het
Pdx1	C	T	5: 147,207,310 (GRCm39)	P88S	probably damaging	Het
Pnisr	T	A	4: 21,859,165 (GRCm39)	V120D	probably damaging	Het
Prss51	G	T	14: 64,332,508 (GRCm39)	C65F	probably damaging	Het
Pus10	G	A	11: 23,652,975 (GRCm39)	E195K	possibly damaging	Het
Pzp	T	A	6: 128,464,917 (GRCm39)	Q1319L	probably damaging	Het
Rundc3a	A	G	11: 102,290,775 (GRCm39)	N281S	possibly damaging	Het
Scml4	C	T	10: 42,736,728 (GRCm39)		probably benign	Het
Sez6	T	C	11: 77,844,528 (GRCm39)	V117A	probably damaging	Het
Sgsm2	A	C	11: 74,756,250 (GRCm39)	C366W	probably damaging	Het
Slc12a4	T	C	8: 106,670,882 (GRCm39)		probably null	Het
Smg5	C	T	3: 88,260,332 (GRCm39)	R641C	probably damaging	Het
Stxbp3	A	G	3: 108,723,762 (GRCm39)	Y150H	probably benign	Het
Thoc2l	T	A	5: 104,668,145 (GRCm39)	M889K	probably damaging	Het
Tkt	T	C	14: 30,291,041 (GRCm39)	F351S	probably damaging	Het
Tln1	A	G	4: 43,547,618 (GRCm39)	L781P	probably damaging	Het
Triobp	G	A	15: 78,885,765 (GRCm39)	E1823K	probably damaging	Het
Ttll4	T	C	1: 74,720,948 (GRCm39)	V538A	possibly damaging	Het
Uba52rt	A	G	4: 3,973,386 (GRCm39)	Y59H	probably benign	Het
Vmn1r61	T	A	7: 5,613,687 (GRCm39)	N209I	possibly damaging	Het
Wdr75	T	A	1: 45,844,512 (GRCm39)		probably null	Het
Zfp985	T	C	4: 147,667,528 (GRCm39)	V132A	probably benign	Het
Zswim3	T	A	2: 164,662,544 (GRCm39)		probably null	Het

Other mutations in Rbpms

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4354001:Rbpms	UTSW	8	34,296,866 (GRCm39)	missense	possibly damaging	0.61
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
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'- GGCCATTTCTTCACCAACATG -3'
(R):5'- TAAATGCTGAGGCTGAGAGC -3'

Sequencing Primer
(F):5'- TTTCTTCACCAACATGGAAAACAAG -3'
(R):5'- TGAGAGCCCTTGCCAACC -3'

Posted On

2018-08-01