Mutagenetix > Incidental Mutation

Incidental Mutation 'R2213:Rbms3'

239529

Institutional Source

Beutler Lab

Gene Symbol

Rbms3

Ensembl Gene

ENSMUSG00000039607

Gene Name

RNA binding motif, single stranded interacting protein

Synonyms

6720477E09Rik, 8430436O14Rik

MMRRC Submission

040215-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R2213 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

116401814-117701749 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 116788534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044901] [ENSMUST00000068962] [ENSMUST00000111772] [ENSMUST00000111773] [ENSMUST00000164018] [ENSMUST00000172564] [ENSMUST00000172564] [ENSMUST00000174868]

AlphaFold

Q8BWL5

Predicted Effect

probably null
Transcript: ENSMUST00000044901

SMART Domains

Protein: ENSMUSP00000039706
Gene: ENSMUSG00000039607

Domain	Start	End	E-Value	Type
low complexity region	27	49	N/A	INTRINSIC
RRM	57	125	1.2e-17	SMART
RRM	136	208	1.49e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000068962

SMART Domains

Protein: ENSMUSP00000066735
Gene: ENSMUSG00000039607

Domain	Start	End	E-Value	Type
low complexity region	27	49	N/A	INTRINSIC
RRM	57	125	1.2e-17	SMART
RRM	136	208	1.49e-13	SMART
low complexity region	384	394	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000084824

Predicted Effect

probably null
Transcript: ENSMUST00000111772

SMART Domains

Protein: ENSMUSP00000107402
Gene: ENSMUSG00000039607

Domain	Start	End	E-Value	Type
low complexity region	27	49	N/A	INTRINSIC
RRM	57	125	1.2e-17	SMART
RRM	136	208	1.49e-13	SMART
low complexity region	385	395	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111773

SMART Domains

Protein: ENSMUSP00000107403
Gene: ENSMUSG00000039607

Domain	Start	End	E-Value	Type
low complexity region	27	49	N/A	INTRINSIC
RRM	57	125	1.2e-17	SMART
RRM	136	208	1.49e-13	SMART
low complexity region	401	411	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000164018

SMART Domains

Protein: ENSMUSP00000131371
Gene: ENSMUSG00000039607

Domain	Start	End	E-Value	Type
low complexity region	76	98	N/A	INTRINSIC
RRM	106	174	1.2e-17	SMART
RRM	185	257	1.49e-13	SMART
low complexity region	433	443	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172564

SMART Domains

Protein: ENSMUSP00000134528
Gene: ENSMUSG00000039607

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
RRM	56	124	1.2e-17	SMART
RRM	135	204	4.78e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000172564

SMART Domains

Protein: ENSMUSP00000134528
Gene: ENSMUSG00000039607

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
RRM	56	124	1.2e-17	SMART
RRM	135	204	4.78e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000174868

SMART Domains

Protein: ENSMUSP00000133621
Gene: ENSMUSG00000039607

Domain	Start	End	E-Value	Type
low complexity region	27	49	N/A	INTRINSIC
RRM	57	125	1.2e-17	SMART
RRM	136	208	1.49e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174276

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,326,247 (GRCm39)	D78G	probably damaging	Het
Anxa1	C	T	19: 20,360,239 (GRCm39)	R124H	probably damaging	Het
Arhgef4	G	A	1: 34,846,230 (GRCm39)		probably null	Het
C87436	G	A	6: 86,422,455 (GRCm39)	V10I	probably benign	Het
Ces1a	G	T	8: 93,751,853 (GRCm39)	P427Q	probably damaging	Het
Cpm	T	C	10: 117,495,744 (GRCm39)	Y78H	probably damaging	Het
Csmd3	G	A	15: 47,683,843 (GRCm39)	T1663I	possibly damaging	Het
Cul7	T	C	17: 46,962,398 (GRCm39)	F10L	probably damaging	Het
Cyp2j5	T	C	4: 96,547,852 (GRCm39)	N130S	probably benign	Het
Dclk1	G	A	3: 55,387,854 (GRCm39)	C100Y	probably damaging	Het
Ddb1	T	C	19: 10,585,691 (GRCm39)	L135P	probably damaging	Het
Dixdc1	A	G	9: 50,613,245 (GRCm39)	S211P	probably benign	Het
Dnah12	G	T	14: 26,460,485 (GRCm39)	K970N	probably benign	Het
Eps15	A	G	4: 109,218,417 (GRCm39)	K391E	probably damaging	Het
Fabp9	A	G	3: 10,259,860 (GRCm39)	V51A	probably damaging	Het
Flg	T	C	3: 93,200,335 (GRCm39)		probably benign	Het
Flnb	AAGGAG	AAG	14: 7,881,652 (GRCm38)		probably benign	Het
Fscb	A	T	12: 64,520,890 (GRCm39)	I192N	possibly damaging	Het
Galntl5	A	G	5: 25,422,527 (GRCm39)	I333V	probably benign	Het
Gcnt3	A	T	9: 69,941,989 (GRCm39)	V193E	probably benign	Het
Gle1	T	C	2: 29,839,313 (GRCm39)	F535S	probably damaging	Het
Gpr87	A	T	3: 59,086,465 (GRCm39)	S347T	probably damaging	Het
Gstm2	C	T	3: 107,893,409 (GRCm39)	R18H	probably damaging	Het
H1f7	T	A	15: 98,154,219 (GRCm39)	Q310L	unknown	Het
Haus6	C	T	4: 86,500,229 (GRCm39)	E927K	possibly damaging	Het
Hunk	A	G	16: 90,229,505 (GRCm39)	N122S	probably damaging	Het
Itih4	T	A	14: 30,612,670 (GRCm39)	V232E	probably damaging	Het
Jag1	G	T	2: 136,931,812 (GRCm39)	D586E	probably benign	Het
Klk1b1	T	C	7: 43,619,905 (GRCm39)	S155P	probably damaging	Het
Lama1	G	T	17: 68,084,029 (GRCm39)	G1424*	probably null	Het
Lrp1	T	A	10: 127,376,571 (GRCm39)	N4279I	probably damaging	Het
Lrrc43	G	A	5: 123,641,640 (GRCm39)	V525I	possibly damaging	Het
Lrrc4c	G	A	2: 97,460,816 (GRCm39)	V481M	probably benign	Het
Mecr	T	A	4: 131,581,126 (GRCm39)		probably null	Het
Megf10	T	A	18: 57,421,081 (GRCm39)	Y906*	probably null	Het
Mpdz	A	G	4: 81,228,409 (GRCm39)	F1319L	probably damaging	Het
Mtf2	A	G	5: 108,248,780 (GRCm39)	E364G	possibly damaging	Het
Nelfe	T	A	17: 35,072,859 (GRCm39)	D160E	probably benign	Het
Nin	A	G	12: 70,092,128 (GRCm39)	L727P	probably damaging	Het
Npat	A	G	9: 53,463,681 (GRCm39)	T155A	probably benign	Het
Nup58	T	C	14: 60,476,945 (GRCm39)	D242G	probably benign	Het
Or4a78	A	T	2: 89,497,891 (GRCm39)	L113Q	probably damaging	Het
Pnlip	T	C	19: 58,662,202 (GRCm39)	V116A	probably benign	Het
Prl7a2	T	A	13: 27,849,051 (GRCm39)	L79F	probably benign	Het
Rbm25	A	T	12: 83,722,856 (GRCm39)	I760L	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rps10	C	A	17: 27,849,473 (GRCm39)		probably benign	Het
Slc35e4	T	C	11: 3,863,159 (GRCm39)	E10G	possibly damaging	Het
Smad2	A	T	18: 76,437,697 (GRCm39)	T434S	probably damaging	Het
Sox30	C	T	11: 45,875,679 (GRCm39)	S477F	probably damaging	Het
Speer4a3	G	T	5: 26,158,175 (GRCm39)	T59K	probably benign	Het
Stat4	A	T	1: 52,053,014 (GRCm39)	D65V	probably damaging	Het
Strip2	A	G	6: 29,931,147 (GRCm39)	D366G	probably damaging	Het
Syngap1	C	A	17: 27,172,043 (GRCm39)	R84S	probably damaging	Het
Synpo2l	A	G	14: 20,710,734 (GRCm39)	Y629H	probably damaging	Het
Taf4	A	T	2: 179,577,683 (GRCm39)		probably null	Het
Ttc21a	A	G	9: 119,769,527 (GRCm39)	H68R	probably benign	Het
Txndc8	T	A	4: 57,984,199 (GRCm39)	Q144L	probably benign	Het
Tyr	T	G	7: 87,142,086 (GRCm39)	Q158P	probably damaging	Het
Uchl3	T	A	14: 101,904,106 (GRCm39)		probably null	Het
Vwa5b1	T	C	4: 138,332,123 (GRCm39)	K298R	probably benign	Het
Wrn	T	C	8: 33,747,043 (GRCm39)	N891S	probably benign	Het
Ylpm1	A	G	12: 85,116,492 (GRCm39)	S2125G	probably benign	Het

Other mutations in Rbms3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Rbms3	APN	9	116,939,183 (GRCm39)	missense	probably damaging	0.99
IGL01859:Rbms3	APN	9	116,788,606 (GRCm39)	missense	probably damaging	1.00
IGL01962:Rbms3	APN	9	116,524,879 (GRCm39)	splice site	probably benign
IGL03034:Rbms3	APN	9	117,080,879 (GRCm39)	utr 5 prime	probably benign
PIT4810001:Rbms3	UTSW	9	116,885,861 (GRCm39)	missense	probably damaging	0.98
R0862:Rbms3	UTSW	9	117,458,860 (GRCm39)	splice site	probably benign
R0864:Rbms3	UTSW	9	117,458,860 (GRCm39)	splice site	probably benign
R0939:Rbms3	UTSW	9	116,939,028 (GRCm39)	critical splice donor site	probably null
R1796:Rbms3	UTSW	9	116,548,401 (GRCm39)	missense	probably damaging	1.00
R1808:Rbms3	UTSW	9	116,651,894 (GRCm39)	missense	probably damaging	1.00
R1826:Rbms3	UTSW	9	116,651,936 (GRCm39)	missense	probably damaging	1.00
R3719:Rbms3	UTSW	9	116,411,930 (GRCm39)	missense	probably benign	0.11
R3935:Rbms3	UTSW	9	116,465,459 (GRCm39)	missense	probably damaging	1.00
R4270:Rbms3	UTSW	9	116,885,816 (GRCm39)	missense	probably damaging	1.00
R4822:Rbms3	UTSW	9	116,773,441 (GRCm39)	intron	probably benign
R4943:Rbms3	UTSW	9	116,507,573 (GRCm39)	intron	probably benign
R5445:Rbms3	UTSW	9	117,080,853 (GRCm39)	missense	possibly damaging	0.74
R5997:Rbms3	UTSW	9	116,548,457 (GRCm39)	missense	probably damaging	1.00
R6848:Rbms3	UTSW	9	117,080,809 (GRCm39)	missense	probably damaging	1.00
R6944:Rbms3	UTSW	9	116,939,173 (GRCm39)	missense	probably damaging	0.99
R7205:Rbms3	UTSW	9	116,415,085 (GRCm39)	critical splice donor site	probably null
R7419:Rbms3	UTSW	9	116,651,894 (GRCm39)	missense	probably damaging	1.00
R8267:Rbms3	UTSW	9	116,885,823 (GRCm39)	missense	possibly damaging	0.86
R8984:Rbms3	UTSW	9	116,524,886 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCAAGTCTATCGCAGGCTTC -3'
(R):5'- ATTCAGCGCTGACCATAAGTC -3'

Sequencing Primer
(F):5'- AAACTGTAATTTGGGTTCTGCTC -3'
(R):5'- ACCATAAGTCTAAGGTGTGTCTGCC -3'

Posted On

2014-10-15