Mutagenetix > Incidental Mutation

Incidental Mutation 'R0637:Rbpms'

56747

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

038826-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.656) question?

Stock #

R0637 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34272671-34419891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34296864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 138 (P138S)

Ref Sequence

ENSEMBL: ENSMUSP00000140387 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000033995
AA Change: P138S

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

SMART Domains

Protein: ENSMUSP00000033995
Gene: ENSMUSG00000031586
AA Change: P138S

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: P138S

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

SMART Domains

Protein: ENSMUSP00000055813
Gene: ENSMUSG00000031586
AA Change: P138S

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: ENSMUST00000182184

Predicted Effect

probably damaging
Transcript: ENSMUST00000182256
AA Change: P34S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138140
Gene: ENSMUSG00000031586
AA Change: P34S

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: P138S

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

SMART Domains

Protein: ENSMUSP00000138483
Gene: ENSMUSG00000031586
AA Change: P138S

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

Predicted Effect

unknown
Transcript: ENSMUST00000183062
AA Change: P34S

SMART Domains

Protein: ENSMUSP00000138726
Gene: ENSMUSG00000031586
AA Change: P34S

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

Predicted Effect

unknown
Transcript: ENSMUST00000183336
AA Change: P1S

SMART Domains

Protein: ENSMUSP00000138533
Gene: ENSMUSG00000031586
AA Change: P1S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000191473
AA Change: P138S

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

SMART Domains

Protein: ENSMUSP00000140387
Gene: ENSMUSG00000031586
AA Change: P138S

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: ENSMUST00000183088
AA Change: P136S

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138420
Gene: ENSMUSG00000031586
AA Change: P136S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231786

Meta Mutation Damage Score

0.1531

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 94.9%

Validation Efficiency

100% (68/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	C	T	9: 53,498,831 (GRCm39)	D285N	probably damaging	Het
Aldh3a1	G	A	11: 61,106,304 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,600,015 (GRCm39)	T2083A	possibly damaging	Het
Atrip	C	T	9: 108,890,241 (GRCm39)	M143I	possibly damaging	Het
Aup1	T	A	6: 83,033,842 (GRCm39)	V344D	probably damaging	Het
Baiap2	G	A	11: 119,891,405 (GRCm39)	V511M	probably benign	Het
Bnip2	T	A	9: 69,910,955 (GRCm39)		probably null	Het
Cacna1i	A	T	15: 80,256,855 (GRCm39)	Y1083F	probably damaging	Het
Cbr4	T	C	8: 61,943,740 (GRCm39)		probably benign	Het
Ces2b	C	T	8: 105,561,237 (GRCm39)		probably benign	Het
Chd1	A	G	17: 15,962,550 (GRCm39)	N769S	possibly damaging	Het
Clca3b	A	T	3: 144,533,701 (GRCm39)	V558D	probably benign	Het
Col12a1	T	C	9: 79,564,017 (GRCm39)	D1736G	probably benign	Het
Cpne8	C	A	15: 90,532,824 (GRCm39)	C61F	probably damaging	Het
Cxcr1	A	G	1: 74,231,998 (GRCm39)	I8T	probably benign	Het
D630003M21Rik	T	G	2: 158,037,327 (GRCm39)		probably benign	Het
Dcaf17	T	A	2: 70,890,763 (GRCm39)	D99E	probably damaging	Het
Fbf1	C	T	11: 116,050,880 (GRCm39)		probably benign	Het
Fgfr2	T	A	7: 129,773,354 (GRCm39)	H570L	possibly damaging	Het
Gars1	G	A	6: 55,046,472 (GRCm39)		probably null	Het
Gm10309	A	G	17: 86,806,463 (GRCm39)		probably benign	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Gm9892	G	A	8: 52,649,860 (GRCm39)	Q78*	probably null	Het
Has1	A	G	17: 18,064,125 (GRCm39)	Y505H	possibly damaging	Het
Hivep3	T	A	4: 119,989,738 (GRCm39)	L2063*	probably null	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Itgb3	T	C	11: 104,549,702 (GRCm39)	V614A	probably benign	Het
Lrrc23	A	G	6: 124,755,321 (GRCm39)		probably benign	Het
Lrrc63	A	T	14: 75,335,660 (GRCm39)		probably benign	Het
Mfhas1	C	T	8: 36,057,180 (GRCm39)	R357*	probably null	Het
Mink1	C	A	11: 70,492,502 (GRCm39)	N123K	probably damaging	Het
Mtmr4	A	G	11: 87,501,890 (GRCm39)	H591R	probably benign	Het
Nav3	T	C	10: 109,606,058 (GRCm39)	T923A	probably benign	Het
Ncapg	A	G	5: 45,844,666 (GRCm39)	T554A	probably damaging	Het
Nfe2l1	T	C	11: 96,718,514 (GRCm39)	Y7C	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Obscn	A	T	11: 58,942,470 (GRCm39)	M4904K	probably damaging	Het
Obscn	G	T	11: 58,973,602 (GRCm39)	L1910I	probably damaging	Het
Or8b41	T	C	9: 38,055,178 (GRCm39)	F244S	probably benign	Het
Pcdhb15	T	A	18: 37,608,619 (GRCm39)	V617E	probably damaging	Het
Pelp1	T	C	11: 70,286,530 (GRCm39)	T533A	possibly damaging	Het
Pgrmc1	T	C	X: 35,865,924 (GRCm39)	F160S	probably damaging	Het
Pink1	G	T	4: 138,045,357 (GRCm39)	P239Q	probably damaging	Het
Pramel25	A	T	4: 143,520,479 (GRCm39)	Y77F	probably benign	Het
Prr27	A	G	5: 87,999,005 (GRCm39)		probably benign	Het
Rcc2	T	C	4: 140,445,055 (GRCm39)		probably benign	Het
Rgs3	T	C	4: 62,564,910 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo1	C	T	16: 72,798,839 (GRCm39)	T933M	probably benign	Het
Sinhcaf	A	G	6: 148,832,163 (GRCm39)		probably benign	Het
Steap4	T	C	5: 8,028,398 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,689,560 (GRCm39)	Y2009C	probably damaging	Het
Tnr	A	C	1: 159,677,905 (GRCm39)	T97P	possibly damaging	Het
Topaz1	T	A	9: 122,620,542 (GRCm39)	L1320*	probably null	Het
Topaz1	A	G	9: 122,626,727 (GRCm39)	M1452V	probably benign	Het
Trank1	T	G	9: 111,219,509 (GRCm39)	F2082C	probably damaging	Het
Trim24	C	A	6: 37,935,494 (GRCm39)		probably null	Het
Tspoap1	T	A	11: 87,668,066 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,126,926 (GRCm39)	L483P	probably damaging	Het
Vmn2r2	T	A	3: 64,033,999 (GRCm39)	T508S	probably benign	Het
Vps18	C	T	2: 119,124,386 (GRCm39)	R438C	probably damaging	Het
Zfp366	C	A	13: 99,365,474 (GRCm39)	R212S	probably damaging	Het
Zkscan4	T	A	13: 21,665,477 (GRCm39)	C122S	probably damaging	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
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'- TGGTCGGAGAGGGAAACCATTCAC -3'
(R):5'- TCTGTTTCAGCAGGAAGTTCCCAC -3'

Sequencing Primer
(F):5'- GGGAAACCATTCACTTCCTGG -3'
(R):5'- TTCTTGGGTCCCCAGCTAAAAAG -3'

Posted On

2013-07-11