Mutagenetix > Incidental Mutation

Incidental Mutation 'R5997:Rbms3'

480633

Institutional Source

Beutler Lab

Gene Symbol

Rbms3

Ensembl Gene

ENSMUSG00000039607

Gene Name

RNA binding motif, single stranded interacting protein

Synonyms

6720477E09Rik, 8430436O14Rik

MMRRC Submission

044176-MU

Accession Numbers

Essential gene?

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

Stock #

R5997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116401814-117701749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116548457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 61 (D61G)

Ref Sequence

ENSEMBL: ENSMUSP00000133900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044901] [ENSMUST00000068962] [ENSMUST00000111772] [ENSMUST00000111773] [ENSMUST00000164018] [ENSMUST00000173429] [ENSMUST00000174868]

AlphaFold

Q8BWL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000044901
AA Change: D219G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039706
Gene: ENSMUSG00000039607
AA Change: D219G

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: D219G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066735
Gene: ENSMUSG00000039607
AA Change: D219G

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

probably damaging
Transcript: ENSMUST00000111772
AA Change: D219G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107402
Gene: ENSMUSG00000039607
AA Change: D219G

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: D219G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107403
Gene: ENSMUSG00000039607
AA Change: D219G

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: D268G

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

SMART Domains

Protein: ENSMUSP00000131371
Gene: ENSMUSG00000039607
AA Change: D268G

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

unknown
Transcript: ENSMUST00000172469
AA Change: D65G

SMART Domains

Protein: ENSMUSP00000134172
Gene: ENSMUSG00000039607
AA Change: D65G

Domain	Start	End	E-Value	Type
Pfam:RRM_1	1	50	9.8e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173429
AA Change: D61G

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

SMART Domains

Protein: ENSMUSP00000133900
Gene: ENSMUSG00000039607
AA Change: D61G

Domain	Start	End	E-Value	Type
Blast:RRM	1	50	2e-29	BLAST
PDB:1X5O\|A	1	60	3e-31	PDB
SCOP:d1h6kx_	1	62	4e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174868
AA Change: D219G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133621
Gene: ENSMUSG00000039607
AA Change: D219G

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

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	T	5: 124,227,878 (GRCm39)	V121E	possibly damaging	Het
Acsbg3	A	T	17: 57,183,373 (GRCm39)	D38V	probably benign	Het
Adamts20	T	A	15: 94,277,628 (GRCm39)	Y278F	probably damaging	Het
Adcy7	A	T	8: 89,053,020 (GRCm39)	D972V	probably benign	Het
Adgrf3	C	A	5: 30,403,360 (GRCm39)		probably null	Het
Ahdc1	G	T	4: 132,791,206 (GRCm39)	G816C	probably benign	Het
Aifm3	A	G	16: 17,319,994 (GRCm39)	K283E	probably benign	Het
Akap6	T	C	12: 52,984,016 (GRCm39)		probably null	Het
Ank1	T	C	8: 23,589,678 (GRCm39)	L593P	probably damaging	Het
Apol11b	T	A	15: 77,519,697 (GRCm39)	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,773,427 (GRCm39)	T235K	probably damaging	Het
Camk2a	A	T	18: 61,111,029 (GRCm39)	I73F	probably damaging	Het
Ccdc121rt3	C	T	5: 112,502,874 (GRCm39)	V277M	possibly damaging	Het
Cd109	G	T	9: 78,612,344 (GRCm39)	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,680,761 (GRCm39)	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,761,918 (GRCm39)	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,353,297 (GRCm39)	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,316,588 (GRCm39)	K405*	probably null	Het
Dchs1	T	C	7: 105,403,302 (GRCm39)	D3080G	probably benign	Het
Ddx1	T	C	12: 13,287,800 (GRCm39)	D168G	probably damaging	Het
Dhx57	T	G	17: 80,553,235 (GRCm39)	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,597,670 (GRCm39)	N3640D	probably benign	Het
Dock4	T	A	12: 40,805,833 (GRCm39)	L935Q	probably damaging	Het
Dus2	A	T	8: 106,772,698 (GRCm39)	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,822,161 (GRCm39)	R201C	possibly damaging	Het
Erbb3	G	A	10: 128,419,054 (GRCm39)	T269M	probably damaging	Het
Fbxo43	T	C	15: 36,162,239 (GRCm39)	R323G	probably damaging	Het
Fktn	A	G	4: 53,735,061 (GRCm39)	H233R	probably benign	Het
Ftsj3	A	T	11: 106,143,077 (GRCm39)	D412E	probably damaging	Het
Fzd7	A	T	1: 59,523,703 (GRCm39)	M529L	probably benign	Het
Fzr1	T	A	10: 81,206,660 (GRCm39)		probably null	Het
Ganc	T	G	2: 120,261,086 (GRCm39)	V257G	possibly damaging	Het
Garin1a	T	A	6: 29,290,423 (GRCm39)	L267*	probably null	Het
Gm4131	T	C	14: 62,702,207 (GRCm39)	K254E	probably damaging	Het
Gm7347	G	T	5: 26,262,247 (GRCm39)	Y91*	probably null	Het
Gm9857	G	A	3: 108,847,481 (GRCm39)		probably benign	Het
Grpel1	T	C	5: 36,622,592 (GRCm39)	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,723,723 (GRCm39)	K670E	possibly damaging	Het
H2bc7	G	A	13: 23,758,277 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,579,924 (GRCm39)	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,546,971 (GRCm39)	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,722,411 (GRCm39)	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,640,688 (GRCm39)	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,312,898 (GRCm39)	T92S	possibly damaging	Het
Krt8	C	T	15: 101,909,029 (GRCm39)	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,357,587 (GRCm39)	T66S	possibly damaging	Het
Lamp3	A	G	16: 19,519,778 (GRCm39)	L135S	probably benign	Het
Lrguk	A	G	6: 34,106,078 (GRCm39)	Y701C	probably damaging	Het
Mcc	G	T	18: 44,582,388 (GRCm39)	L588M	probably damaging	Het
Mcidas	T	A	13: 113,135,120 (GRCm39)	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,257,575 (GRCm39)	L208Q	probably damaging	Het
Myof	A	G	19: 37,893,747 (GRCm39)	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 106,781,703 (GRCm39)	T300K	probably benign	Het
Or2d36	A	T	7: 106,746,535 (GRCm39)	E4V	possibly damaging	Het
Or2m13	T	A	16: 19,226,694 (GRCm39)	H24L	probably benign	Het
Or5b118	A	G	19: 13,448,870 (GRCm39)	I179V	probably benign	Het
Or8b41	A	T	9: 38,055,097 (GRCm39)	Y217F	probably damaging	Het
Orc2	A	G	1: 58,511,547 (GRCm39)	I354T	probably damaging	Het
Pard3b	G	T	1: 62,115,568 (GRCm39)	S140I	probably damaging	Het
Pcgf5	A	G	19: 36,412,003 (GRCm39)	D49G	probably benign	Het
Pcsk6	T	C	7: 65,609,041 (GRCm39)	F388S	probably damaging	Het
Prokr2	A	C	2: 132,223,362 (GRCm39)	I60S	probably damaging	Het
Rab33b	A	G	3: 51,391,900 (GRCm39)	T50A	possibly damaging	Het
Rhcg	T	A	7: 79,250,262 (GRCm39)	K274*	probably null	Het
Rnf112	C	T	11: 61,341,848 (GRCm39)	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,830,613 (GRCm39)	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,615,851 (GRCm39)	D168G	probably damaging	Het
Sik2	A	G	9: 50,806,642 (GRCm39)		probably null	Het
Slco1a5	T	A	6: 142,198,839 (GRCm39)	L275F	probably benign	Het
Smtnl1	T	C	2: 84,645,722 (GRCm39)	H383R	probably damaging	Het
Spns3	T	G	11: 72,429,904 (GRCm39)	T175P	probably damaging	Het
Togaram1	A	G	12: 65,042,312 (GRCm39)	T1174A	probably benign	Het
Tradd	C	T	8: 105,987,277 (GRCm39)	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,339,819 (GRCm39)	Y579N	probably damaging	Het
Uncx	G	A	5: 139,533,344 (GRCm39)	G470R	probably damaging	Het
Vav3	T	A	3: 109,408,777 (GRCm39)	M177K	probably damaging	Het
Wfs1	A	T	5: 37,125,094 (GRCm39)	I599N	probably damaging	Het
Zfp454	G	A	11: 50,764,449 (GRCm39)	H217Y	probably damaging	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
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
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'- CGACTGTGCATGTTCTTCACG -3'
(R):5'- ACCAATCAGTGAAGCTCAGAGG -3'

Sequencing Primer
(F):5'- TACGTTCTGGGGATCCAAAC -3'
(R):5'- CAATCAGTGAAGCTCAGAGGAAAGAG -3'

Posted On

2017-06-26