Mutagenetix > Incidental Mutation

Incidental Mutation 'R4270:Rbms3'

322130

Institutional Source

Beutler Lab

Gene Symbol

Rbms3

Ensembl Gene

ENSMUSG00000039607

Gene Name

RNA binding motif, single stranded interacting protein

Synonyms

6720477E09Rik, 8430436O14Rik

MMRRC Submission

041075-MU

Accession Numbers

Essential gene?

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

Stock #

R4270 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116401814-117701749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116885816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 94 (N94I)

Ref Sequence

ENSEMBL: ENSMUSP00000133621 (fasta)

Gene Model

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

AlphaFold

Q8BWL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000044901
AA Change: N94I

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

SMART Domains

Protein: ENSMUSP00000039706
Gene: ENSMUSG00000039607
AA Change: N94I

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 damaging
Transcript: ENSMUST00000068962
AA Change: N94I

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

SMART Domains

Protein: ENSMUSP00000066735
Gene: ENSMUSG00000039607
AA Change: N94I

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 damaging
Transcript: ENSMUST00000111772
AA Change: N94I

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

SMART Domains

Protein: ENSMUSP00000107402
Gene: ENSMUSG00000039607
AA Change: N94I

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 damaging
Transcript: ENSMUST00000111773
AA Change: N94I

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

SMART Domains

Protein: ENSMUSP00000107403
Gene: ENSMUSG00000039607
AA Change: N94I

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 damaging
Transcript: ENSMUST00000164018
AA Change: N143I

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

SMART Domains

Protein: ENSMUSP00000131371
Gene: ENSMUSG00000039607
AA Change: N143I

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 damaging
Transcript: ENSMUST00000174868
AA Change: N94I

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

SMART Domains

Protein: ENSMUSP00000133621
Gene: ENSMUSG00000039607
AA Change: N94I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172564
AA Change: N93I

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

SMART Domains

Protein: ENSMUSP00000134528
Gene: ENSMUSG00000039607
AA Change: N93I

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

noncoding transcript
Transcript: ENSMUST00000172565

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	A	3: 88,889,347 (GRCm39)	C409S	probably benign	Het
Aspg	T	C	12: 112,087,629 (GRCm39)	S327P	probably damaging	Het
Ccdc88c	G	T	12: 100,913,478 (GRCm39)	Q516K	probably damaging	Het
Cdh11	T	A	8: 103,391,258 (GRCm39)	D326V	possibly damaging	Het
Ctsa	G	T	2: 164,677,222 (GRCm39)	M210I	probably benign	Het
Ctsh	A	G	9: 89,943,651 (GRCm39)	H92R	probably damaging	Het
Fanca	A	G	8: 123,995,533 (GRCm39)	L117P	probably damaging	Het
Foxo1	A	G	3: 52,252,826 (GRCm39)	T330A	probably benign	Het
Ighv1-43	C	G	12: 114,909,772 (GRCm39)	G50A	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Kif26a	C	T	12: 112,139,848 (GRCm39)	S460F	probably damaging	Het
Mxra8	C	A	4: 155,925,594 (GRCm39)	P98Q	probably damaging	Het
Nbr1	T	C	11: 101,458,048 (GRCm39)	Y276H	possibly damaging	Het
Nckap1l	T	C	15: 103,381,549 (GRCm39)	L430P	possibly damaging	Het
Nubp2	A	T	17: 25,104,567 (GRCm39)	C58S	probably damaging	Het
Or8c10	A	G	9: 38,278,997 (GRCm39)	N52D	probably damaging	Het
Pramel51	A	T	12: 88,145,053 (GRCm39)	I91K	probably damaging	Het
Rimbp2	T	G	5: 128,896,841 (GRCm39)	N23T	probably benign	Het
Rwdd3	T	C	3: 120,952,550 (GRCm39)	D147G	probably damaging	Het
Slc30a5	T	G	13: 100,965,521 (GRCm39)	R29S	probably benign	Het
Syt10	C	A	15: 89,675,095 (GRCm39)	R417L	probably benign	Het
Trim58	T	C	11: 58,542,093 (GRCm39)	V351A	probably damaging	Het
Trpc3	G	T	3: 36,717,074 (GRCm39)	Y321*	probably null	Het
Vmn2r107	G	T	17: 20,576,041 (GRCm39)	V124F	probably benign	Het
Xkr7	T	C	2: 152,896,235 (GRCm39)	V363A	possibly damaging	Het
Zfp597	A	T	16: 3,689,954 (GRCm39)	M1K	probably null	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
R2213:Rbms3	UTSW	9	116,788,534 (GRCm39)	critical splice donor site	probably null
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
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'- AAGCAATTTGATACTTGTCCCG -3'
(R):5'- CTGTGCTAAGTAGTGTGTGCCC -3'

Sequencing Primer
(F):5'- GCAATTTGATACTTGTCCCGATTTG -3'
(R):5'- TGCCCCAATGTTCATGAAGG -3'

Posted On

2015-06-20