Mutagenetix > Incidental Mutations

Incidental Mutation 'R2878:Rbm6'

260178

Institutional Source

Beutler Lab

Gene Symbol

Rbm6

Ensembl Gene

ENSMUSG00000032582

Gene Name

RNA binding motif protein 6

Synonyms

g16, NY-LU-12, Def-3

MMRRC Submission

040466-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R2878 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107773559-107873237 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107852450 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 333 (E333G)

Ref Sequence

ENSEMBL: ENSMUSP00000138400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035201] [ENSMUST00000181986] [ENSMUST00000183032] [ENSMUST00000183035] [ENSMUST00000195866] [ENSMUST00000195883]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035201
AA Change: E201G

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

SMART Domains

Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: E201G

Domain	Start	End	E-Value	Type
internal_repeat_1	4	42	2.66e-5	PROSPERO
low complexity region	61	87	N/A	INTRINSIC
internal_repeat_1	106	157	2.66e-5	PROSPERO
RRM	325	400	2.67e-2	SMART
Blast:ZnF_RBZ	406	430	2e-11	BLAST
RRM	522	601	1.32e-1	SMART
low complexity region	748	765	N/A	INTRINSIC
ZnF_C2H2	818	843	4.34e0	SMART
low complexity region	864	876	N/A	INTRINSIC
G_patch	912	958	7.87e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182301

Predicted Effect

probably damaging
Transcript: ENSMUST00000183032
AA Change: E333G

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

SMART Domains

Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: E333G

Domain	Start	End	E-Value	Type
internal_repeat_1	43	119	2.42e-5	PROSPERO
internal_repeat_2	46	164	3.18e-5	PROSPERO
internal_repeat_1	121	189	2.42e-5	PROSPERO
low complexity region	193	219	N/A	INTRINSIC
internal_repeat_2	224	319	3.18e-5	PROSPERO
RRM	457	532	2.67e-2	SMART
Blast:ZnF_RBZ	538	562	2e-9	BLAST
RRM	654	733	1.32e-1	SMART
low complexity region	880	897	N/A	INTRINSIC
ZnF_C2H2	950	975	4.34e0	SMART
low complexity region	996	1008	N/A	INTRINSIC
G_patch	1044	1090	7.87e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193957

Predicted Effect

probably benign
Transcript: ENSMUST00000195866

Predicted Effect

probably benign
Transcript: ENSMUST00000195883

SMART Domains

Protein: ENSMUSP00000141953
Gene: ENSMUSG00000032582

Domain	Start	End	E-Value	Type
Blast:ZnF_RBZ	24	48	9e-12	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

92% (58/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,291,889	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,859,410	M384K	probably damaging	Het
Adgrg7	A	G	16: 56,750,454	F404L	probably benign	Het
Akr1c20	G	A	13: 4,507,775	T251M	probably damaging	Het
Amph	G	A	13: 19,104,267	V309I	possibly damaging	Het
Ano2	T	G	6: 125,863,518	F384C	probably damaging	Het
Aplf	G	A	6: 87,668,427	R32*	probably null	Het
Arhgef18	A	G	8: 3,432,759	M155V	probably benign	Het
Atg2b	A	T	12: 105,664,009	Y374*	probably null	Het
Camkmt	T	C	17: 85,431,551		probably benign	Het
Capn2	T	A	1: 182,517,233	E41V	probably benign	Het
Cd53	T	C	3: 106,767,416	T112A	probably benign	Het
Cyp2a4	G	A	7: 26,312,187	E278K	possibly damaging	Het
Dact2	A	T	17: 14,195,914	S675T	probably damaging	Het
Dync1li2	A	C	8: 104,429,415	Y265D	probably damaging	Het
Eml4	T	A	17: 83,410,174	H58Q	probably benign	Het
F13b	T	C	1: 139,501,747	M1T	probably null	Het
Fam83b	A	G	9: 76,490,810	F1004L	probably damaging	Het
Fbxo48	A	G	11: 16,953,382	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,181,466	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,485,970	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,838,666	P60S	probably benign	Het
Fscb	A	T	12: 64,472,574	V706E	unknown	Het
Gfm2	A	G	13: 97,153,249	R181G	possibly damaging	Het
Gm17546	A	T	15: 95,829,924		probably benign	Het
Gm4778	G	T	3: 94,266,480	C265F	possibly damaging	Het
Grin1	A	G	2: 25,297,629	V594A	probably damaging	Het
Itpripl1	A	G	2: 127,141,614	V196A	probably benign	Het
Kcns1	A	G	2: 164,164,762	I427T	probably damaging	Het
Map3k19	T	A	1: 127,823,793	E607V	possibly damaging	Het
Map3k4	T	C	17: 12,264,067	S588G	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nat6	A	T	9: 107,583,168	E87D	possibly damaging	Het
Nebl	C	A	2: 17,434,929	D178Y	probably damaging	Het
Nfatc3	C	A	8: 106,092,144	T498K	probably damaging	Het
Nfkb2	G	A	19: 46,307,441	R158H	possibly damaging	Het
Obscn	T	C	11: 59,056,188	E4337G	possibly damaging	Het
Olfr1459	A	G	19: 13,146,407	L84P	probably benign	Het
Palb2	A	G	7: 122,114,429	V877A	probably damaging	Het
Rem2	A	G	14: 54,476,362	T31A	possibly damaging	Het
Ric1	A	G	19: 29,602,330	D1224G	possibly damaging	Het
Rp1	A	G	1: 4,348,139	S917P	probably damaging	Het
Scn2a	G	A	2: 65,688,371	G363D	probably damaging	Het
Shcbp1l	A	T	1: 153,437,518		probably benign	Het
Skor2	G	T	18: 76,860,724	E714*	probably null	Het
Slc15a1	T	A	14: 121,465,933	K545N	probably benign	Het
Slc1a2	T	A	2: 102,761,167	M414K	probably damaging	Het
Slc7a8	A	G	14: 54,759,686	S70P	probably damaging	Het
Taf1a	A	G	1: 183,397,835	E117G	probably damaging	Het
Trem2	A	G	17: 48,351,113	D135G	probably benign	Het
Ttn	T	C	2: 76,737,065	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,260,039	D258G	probably benign	Het
Unc80	TGTATTCCAGGCG	TG	1: 66,671,576		probably benign	Het
Vmn2r56	A	C	7: 12,711,027	M433R	probably benign	Het
Wdr45	C	T	X: 7,727,372	P271S	probably damaging	Het
Zfp410	A	C	12: 84,331,637	N245T	probably damaging	Het

Other mutations in Rbm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01380:Rbm6	APN	9	107788349	missense	probably damaging	1.00
IGL01647:Rbm6	APN	9	107852882	missense	probably benign	0.13
IGL01872:Rbm6	APN	9	107783715	missense	probably damaging	0.99
IGL02402:Rbm6	APN	9	107852852	missense	probably damaging	1.00
IGL03024:Rbm6	APN	9	107787368	missense	probably damaging	0.97
IGL03025:Rbm6	APN	9	107774719	missense	possibly damaging	0.76
FR4737:Rbm6	UTSW	9	107782755	frame shift	probably null
PIT4402001:Rbm6	UTSW	9	107787850	missense	probably damaging	1.00
R0511:Rbm6	UTSW	9	107847289	nonsense	probably null
R1666:Rbm6	UTSW	9	107791856	missense	probably benign	0.15
R1927:Rbm6	UTSW	9	107852903	missense	probably damaging	1.00
R2173:Rbm6	UTSW	9	107852191	missense	possibly damaging	0.79
R2262:Rbm6	UTSW	9	107791090	missense	probably damaging	1.00
R2439:Rbm6	UTSW	9	107779597	missense	probably damaging	1.00
R2566:Rbm6	UTSW	9	107791998	missense	possibly damaging	0.60
R4342:Rbm6	UTSW	9	107847247	intron	probably benign
R4783:Rbm6	UTSW	9	107852903	missense	probably damaging	1.00
R4785:Rbm6	UTSW	9	107787352	missense	probably benign	0.06
R5205:Rbm6	UTSW	9	107788343	missense	probably benign	0.08
R5253:Rbm6	UTSW	9	107852657	missense	probably damaging	1.00
R5279:Rbm6	UTSW	9	107778014	missense	probably benign	0.00
R5356:Rbm6	UTSW	9	107852666	missense	probably damaging	1.00
R6289:Rbm6	UTSW	9	107777948	missense	probably damaging	1.00
R6328:Rbm6	UTSW	9	107787259	missense	probably benign	0.00
R6564:Rbm6	UTSW	9	107833498	missense	probably damaging	1.00
R6887:Rbm6	UTSW	9	107852231	missense	probably damaging	1.00
R6978:Rbm6	UTSW	9	107852575	splice site	probably null
R7139:Rbm6	UTSW	9	107853211	missense	probably damaging	1.00
R7240:Rbm6	UTSW	9	107852896	missense	probably damaging	1.00
R7330:Rbm6	UTSW	9	107791045	missense	possibly damaging	0.77
R7397:Rbm6	UTSW	9	107852519	missense	probably benign
R7590:Rbm6	UTSW	9	107791750	critical splice donor site	probably null
R7829:Rbm6	UTSW	9	107852706	missense	probably damaging	1.00
R8301:Rbm6	UTSW	9	107852794	missense	probably damaging	1.00
R8405:Rbm6	UTSW	9	107852817	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGCAACCTGTGATCCACATC -3'
(R):5'- CCAAGATTTTCGGGGCAGAGAG -3'

Sequencing Primer
(F):5'- TGTTGGCCAAGAAAGTCCAAATC -3'
(R):5'- GGTAGGACCTTGTATGGAATTTAAAG -3'

Posted On

2015-01-23