Mutagenetix > Incidental Mutation

Incidental Mutation 'R6944:Rbms3'

540783

Institutional Source

Beutler Lab

Gene Symbol

Rbms3

Ensembl Gene

ENSMUSG00000039607

Gene Name

RNA binding motif, single stranded interacting protein

Synonyms

6720477E09Rik, 8430436O14Rik

MMRRC Submission

045058-MU

Accession Numbers

Essential gene?

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

Stock #

R6944 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116401814-117701749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116939173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 29 (P29Q)

Ref Sequence

ENSEMBL: ENSMUSP00000134528 (fasta)

Gene Model

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

AlphaFold

Q8BWL5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044901
AA Change: P30Q

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039706
Gene: ENSMUSG00000039607
AA Change: P30Q

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

possibly damaging
Transcript: ENSMUST00000068962
AA Change: P30Q

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066735
Gene: ENSMUSG00000039607
AA Change: P30Q

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: P30Q

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107402
Gene: ENSMUSG00000039607
AA Change: P30Q

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

possibly damaging
Transcript: ENSMUST00000111773
AA Change: P30Q

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107403
Gene: ENSMUSG00000039607
AA Change: P30Q

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

unknown
Transcript: ENSMUST00000164018
AA Change: P79Q

SMART Domains

Protein: ENSMUSP00000131371
Gene: ENSMUSG00000039607
AA Change: P79Q

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: ENSMUST00000172564
AA Change: P29Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134528
Gene: ENSMUSG00000039607
AA Change: P29Q

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

possibly damaging
Transcript: ENSMUST00000174868
AA Change: P30Q

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133621
Gene: ENSMUSG00000039607
AA Change: P30Q

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

Meta Mutation Damage Score

0.1046

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	G	5: 8,863,693 (GRCm39)	V216G	probably damaging	Het
Abcb5	T	C	12: 118,875,265 (GRCm39)	R636G	probably benign	Het
Ago1	G	T	4: 126,354,215 (GRCm39)	F198L	possibly damaging	Het
Ankrd42	C	T	7: 92,268,755 (GRCm39)		probably null	Het
Anxa11	T	A	14: 25,875,176 (GRCm39)	F274I	probably damaging	Het
Ascc1	T	C	10: 59,849,475 (GRCm39)	L122P	probably damaging	Het
Bptf	T	C	11: 106,971,649 (GRCm39)	S953G	probably damaging	Het
Chml	T	A	1: 175,515,727 (GRCm39)	N65Y	probably damaging	Het
Clcc1	A	G	3: 108,578,284 (GRCm39)	K262E	probably damaging	Het
Clhc1	T	G	11: 29,519,346 (GRCm39)	D384E	probably damaging	Het
Cnot2	G	A	10: 116,373,128 (GRCm39)		probably benign	Het
Cntnap1	T	C	11: 101,073,730 (GRCm39)	V627A	probably damaging	Het
Col6a4	A	G	9: 105,949,370 (GRCm39)	V755A	probably damaging	Het
Cyp4f18	T	A	8: 72,743,738 (GRCm39)	I406F	probably benign	Het
Dclre1a	T	C	19: 56,533,451 (GRCm39)	E381G	possibly damaging	Het
Dnah1	A	G	14: 30,990,861 (GRCm39)	Y3153H	probably damaging	Het
Dnah8	C	A	17: 31,013,633 (GRCm39)	D3791E	probably benign	Het
Dnah9	T	C	11: 65,975,975 (GRCm39)	E1358G	possibly damaging	Het
Eef1g	G	A	19: 8,945,656 (GRCm39)	R30H	probably benign	Het
Egln3	A	T	12: 54,230,738 (GRCm39)	I181N	probably benign	Het
Entpd6	A	G	2: 150,605,519 (GRCm39)	T250A	probably damaging	Het
Epb41l5	C	T	1: 119,536,859 (GRCm39)	R344Q	probably damaging	Het
Fam20b	T	C	1: 156,515,091 (GRCm39)	D258G	probably benign	Het
Fbxw18	A	T	9: 109,531,655 (GRCm39)	D21E	probably damaging	Het
Fbxw21	T	C	9: 108,986,603 (GRCm39)	E92G	probably damaging	Het
Fzd6	T	A	15: 38,889,212 (GRCm39)	M110K	possibly damaging	Het
Golgb1	C	T	16: 36,732,475 (GRCm39)	P574L	probably benign	Het
Gpr153	A	G	4: 152,363,820 (GRCm39)	E80G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Kcnt1	T	C	2: 25,767,840 (GRCm39)		probably benign	Het
Kcnt2	T	G	1: 140,511,803 (GRCm39)	V962G	probably benign	Het
Malt1	T	C	18: 65,570,991 (GRCm39)	V109A	probably benign	Het
Marchf7	A	G	2: 60,064,587 (GRCm39)	I288V	probably benign	Het
Mief1	C	T	15: 80,133,644 (GRCm39)	R234C	probably damaging	Het
Morc3	A	G	16: 93,667,460 (GRCm39)	S613G	probably benign	Het
Myt1	A	G	2: 181,439,387 (GRCm39)	E345G	possibly damaging	Het
Napb	T	C	2: 148,548,889 (GRCm39)	T133A	probably benign	Het
Nwd1	T	C	8: 73,380,162 (GRCm39)	V16A	possibly damaging	Het
Oas1f	G	A	5: 120,986,247 (GRCm39)	E67K	probably benign	Het
Obscn	T	C	11: 58,929,756 (GRCm39)	K5153R	probably damaging	Het
Or2w3b	T	A	11: 58,623,068 (GRCm39)	S308C	possibly damaging	Het
Or5a3	G	T	19: 12,400,628 (GRCm39)	M318I	probably benign	Het
Or5g26	C	T	2: 85,494,195 (GRCm39)	M194I	probably benign	Het
Or6d12	T	C	6: 116,492,791 (GRCm39)	F18L	possibly damaging	Het
Pdcd2	T	C	17: 15,745,632 (GRCm39)	N185S	possibly damaging	Het
Pgap1	A	T	1: 54,569,320 (GRCm39)	W349R	probably damaging	Het
Prpf39	T	A	12: 65,089,454 (GRCm39)	V64E	probably benign	Het
Ptpn13	T	A	5: 103,624,857 (GRCm39)	W54R	probably null	Het
Rnf123	A	G	9: 107,940,822 (GRCm39)	L679P	probably benign	Het
Samd4	T	A	14: 47,254,092 (GRCm39)	D84E	possibly damaging	Het
Scarf1	T	C	11: 75,413,032 (GRCm39)	V426A	probably benign	Het
Slc12a1	A	G	2: 125,002,454 (GRCm39)	N145D	probably damaging	Het
Slc2a6	A	T	2: 26,916,076 (GRCm39)	M99K	probably damaging	Het
Slc34a2	A	T	5: 53,222,225 (GRCm39)	I306L	probably benign	Het
Slx4ip	A	G	2: 136,910,195 (GRCm39)	K397E	probably damaging	Het
Smr3a	C	T	5: 88,155,949 (GRCm39)		probably benign	Het
Spata31h1	A	C	10: 82,132,056 (GRCm39)	I318R	probably benign	Het
Spef2	T	C	15: 9,592,835 (GRCm39)	E1502G	probably damaging	Het
Sri	A	T	5: 8,113,365 (GRCm39)	T119S	probably benign	Het
Synrg	T	A	11: 83,915,912 (GRCm39)	L1085H	probably damaging	Het
Taf7	A	T	18: 37,775,910 (GRCm39)	L219H	probably damaging	Het
Tmco3	T	A	8: 13,353,729 (GRCm39)	V347E	probably damaging	Het
Tmem8b	A	T	4: 43,674,465 (GRCm39)	I250F	probably damaging	Het
Tom1l2	A	G	11: 60,139,817 (GRCm39)	V239A	probably damaging	Het
Trpm1	T	A	7: 63,893,181 (GRCm39)	M1011K	probably damaging	Het
Tspan9	A	T	6: 127,942,769 (GRCm39)	Y153N	probably benign	Het
Ttll11	T	C	2: 35,642,306 (GRCm39)	H675R	probably benign	Het
Unc50	C	T	1: 37,471,743 (GRCm39)	T131M	probably damaging	Het
Vgf	T	A	5: 137,061,206 (GRCm39)	I456N	probably damaging	Het
Vmn1r223	A	G	13: 23,433,483 (GRCm39)	I26V	unknown	Het
Vmn1r39	T	C	6: 66,782,205 (GRCm39)	M1V	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r14	T	C	5: 109,363,925 (GRCm39)	T664A	probably benign	Het
Vmn2r14	G	A	5: 109,364,140 (GRCm39)	T592I	probably benign	Het
Vmn2r96	T	A	17: 18,817,891 (GRCm39)	F489L	probably benign	Het
Vmn2r-ps158	T	C	7: 42,697,393 (GRCm39)	F817L	possibly 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
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
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'- ATGTGCATCTGAACAGGCC -3'
(R):5'- TTCTCAGAGTGGCATGGAAC -3'

Sequencing Primer
(F):5'- TGCATCTGAACAGGCCCAAGG -3'
(R):5'- CATGGAACGTGGTATCGGTG -3'

Posted On

2018-11-28