Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4810001:Rbms3'

556861

Institutional Source

Beutler Lab

Gene Symbol

Rbms3

Ensembl Gene

ENSMUSG00000039607

Gene Name

RNA binding motif, single stranded interacting protein

Synonyms

6720477E09Rik, 8430436O14Rik

Accession Numbers

Essential gene?

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

Stock #

PIT4810001 (G1)

Quality Score

151.008

Status

Not validated

Chromosome

Chromosomal Location

116401814-117701749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116885861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 128 (Y128F)

Ref Sequence

ENSEMBL: ENSMUSP00000131371 (fasta)

Gene Model

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

AlphaFold

Q8BWL5

Predicted Effect

probably benign
Transcript: ENSMUST00000044901
AA Change: Y79F

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000039706
Gene: ENSMUSG00000039607
AA Change: Y79F

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: Y79F

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

SMART Domains

Protein: ENSMUSP00000066735
Gene: ENSMUSG00000039607
AA Change: Y79F

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

possibly damaging
Transcript: ENSMUST00000111772
AA Change: Y79F

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107402
Gene: ENSMUSG00000039607
AA Change: Y79F

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: Y79F

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

SMART Domains

Protein: ENSMUSP00000107403
Gene: ENSMUSG00000039607
AA Change: Y79F

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: Y128F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131371
Gene: ENSMUSG00000039607
AA Change: Y128F

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 benign
Transcript: ENSMUST00000172564
AA Change: Y78F

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134528
Gene: ENSMUSG00000039607
AA Change: Y78F

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 damaging
Transcript: ENSMUST00000174868
AA Change: Y79F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133621
Gene: ENSMUSG00000039607
AA Change: Y79F

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: 93.8%
3x: 91.1%
10x: 85.1%
20x: 72.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,822 (GRCm39)	S105P	probably damaging	Het
Adtrp	C	T	13: 41,981,724 (GRCm39)	W48*	probably null	Het
Agxt2	A	T	15: 10,399,151 (GRCm39)	M413L	probably benign	Het
Ahnak2	T	A	12: 112,749,214 (GRCm39)	D211V		Het
Aplnr	T	A	2: 84,967,628 (GRCm39)	C218S	probably damaging	Het
Arhgdib	T	A	6: 136,901,162 (GRCm39)	E189V	probably damaging	Het
Atp10a	T	C	7: 58,463,596 (GRCm39)	I1043T	probably damaging	Het
Atp13a5	C	T	16: 29,133,382 (GRCm39)	C468Y	probably damaging	Het
Cars2	A	T	8: 11,564,699 (GRCm39)	C459S	probably benign	Het
Ccr3	T	A	9: 123,829,645 (GRCm39)	Y327N	probably benign	Het
Ceacam1	T	A	7: 25,171,400 (GRCm39)	I355F	probably damaging	Het
Celsr3	T	C	9: 108,722,932 (GRCm39)	L2773P	probably damaging	Het
Ces2g	A	T	8: 105,691,521 (GRCm39)	H192L	possibly damaging	Het
Cfap157	A	G	2: 32,671,444 (GRCm39)	F121L	probably damaging	Het
Champ1	G	A	8: 13,929,234 (GRCm39)	S464N	probably benign	Het
Clasp2	T	A	9: 113,735,135 (GRCm39)	L990Q	probably damaging	Het
Col6a3	A	T	1: 90,706,516 (GRCm39)	L2806Q	unknown	Het
Cpz	T	C	5: 35,665,536 (GRCm39)	E435G	possibly damaging	Het
Crbn	T	A	6: 106,761,440 (GRCm39)	R233*	probably null	Het
Ctc1	C	T	11: 68,913,352 (GRCm39)	T116I	probably benign	Het
Cyp4f17	T	C	17: 32,743,574 (GRCm39)	S314P	possibly damaging	Het
Dmxl1	A	G	18: 50,065,030 (GRCm39)	E2625G	probably damaging	Het
Dock7	T	A	4: 98,833,796 (GRCm39)	R1874*	probably null	Het
E130311K13Rik	A	T	3: 63,823,122 (GRCm39)	L174*	probably null	Het
Etnppl	A	G	3: 130,414,363 (GRCm39)	D86G	probably benign	Het
Fbxw18	C	A	9: 109,505,958 (GRCm39)	E438*	probably null	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Gpr155	A	C	2: 73,178,607 (GRCm39)	L727R	probably benign	Het
Gpr158	C	G	2: 21,831,682 (GRCm39)	D927E	probably benign	Het
Igsf10	T	C	3: 59,225,903 (GRCm39)	Y2590C	probably damaging	Het
Ints7	A	G	1: 191,328,348 (GRCm39)	D207G	probably damaging	Het
Iqsec1	A	G	6: 90,647,473 (GRCm39)	L743P	probably damaging	Het
Kansl1l	A	T	1: 66,801,308 (GRCm39)	S553T	probably damaging	Het
Klhl14	G	T	18: 21,690,880 (GRCm39)	Y523*	probably null	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Lrrc3b	A	G	14: 15,358,273 (GRCm38)	V111A	probably benign	Het
Maml2	A	G	9: 13,531,320 (GRCm39)	N178S		Het
Megf8	G	A	7: 25,041,710 (GRCm39)	C1208Y	probably damaging	Het
Mocos	A	G	18: 24,819,759 (GRCm39)	D667G	probably damaging	Het
Nid2	A	G	14: 19,860,158 (GRCm39)	T1359A	possibly damaging	Het
Nup210	T	C	6: 91,007,106 (GRCm39)	E1357G	probably damaging	Het
Or2d2	A	T	7: 106,727,766 (GRCm39)	M278K	probably benign	Het
Or4a2	A	T	2: 89,248,297 (GRCm39)	H153Q	probably damaging	Het
Or9s15	T	A	1: 92,524,876 (GRCm39)	F212I	probably benign	Het
Pign	A	G	1: 105,525,487 (GRCm39)	V447A	possibly damaging	Het
Pomp	T	C	5: 147,806,229 (GRCm39)	L57P	probably benign	Het
Pou2af2	C	T	9: 51,202,992 (GRCm39)	G54D	possibly damaging	Het
Slc12a4	A	G	8: 106,678,228 (GRCm39)	F322L	probably benign	Het
Slc16a9	T	A	10: 70,119,762 (GRCm39)	C468*	probably null	Het
Slc22a18	A	G	7: 143,046,668 (GRCm39)	I271V	probably benign	Het
Slc25a41	A	G	17: 57,346,933 (GRCm39)	V20A	possibly damaging	Het
Smim7	A	T	8: 73,324,857 (GRCm39)	L6Q	probably damaging	Het
Snx29	T	C	16: 11,218,845 (GRCm39)	V227A	probably damaging	Het
Sowaha	A	T	11: 53,369,290 (GRCm39)	L482Q	probably damaging	Het
Srp19	A	G	18: 34,467,523 (GRCm39)	Y68C	probably damaging	Het
Tecr	A	G	8: 84,298,884 (GRCm39)	S298P	probably damaging	Het
Terb2	T	A	2: 122,035,379 (GRCm39)	I200N	probably damaging	Het
Togaram1	G	A	12: 65,030,286 (GRCm39)	S1030N	probably damaging	Het
Trav7n-4	A	G	14: 53,329,193 (GRCm39)	M68V	probably benign	Het
Tshz1	A	C	18: 84,031,375 (GRCm39)	L1011R	possibly damaging	Het
Tubb3	A	G	8: 124,148,396 (GRCm39)	E443G	possibly damaging	Het
Uba5	A	T	9: 103,932,396 (GRCm39)	I189K	probably damaging	Het
Vasn	A	G	16: 4,467,909 (GRCm39)	T619A	probably benign	Het
Wbp1l	A	G	19: 46,642,761 (GRCm39)	D254G	probably benign	Het
Zzef1	T	C	11: 72,741,571 (GRCm39)	F738L	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
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
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'- CGTTACCAGGAATGCAACCC -3'
(R):5'- CCAGGGTATCAAGAATAGCTGG -3'

Sequencing Primer
(F):5'- GAATGCAACCCATCCAATCACGG -3'
(R):5'- TAGCTGGTACAATAGTAGCCTGG -3'

Posted On

2019-06-07