Mutagenetix > Incidental Mutations

Incidental Mutation 'R2566:Rbm6'

254478

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

040425-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R2566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107773559-107873237 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107791998 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 58 (S58P)

Ref Sequence

ENSEMBL: ENSMUSP00000141953 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035201
AA Change: S440P

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: S440P

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: ENSMUST00000182092

Predicted Effect

probably benign
Transcript: ENSMUST00000183032
AA Change: S572P

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: S572P

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: ENSMUST00000194436

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195883
AA Change: S58P

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141953
Gene: ENSMUSG00000032582
AA Change: S58P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,293,071	K408E	probably damaging	Het
2010315B03Rik	T	A	9: 124,293,153	K380N	probably damaging	Het
9230104M06Rik	C	T	12: 113,000,739		probably benign	Het
Ahi1	T	A	10: 20,970,911	C413*	probably null	Het
Alms1	T	A	6: 85,622,482	M1430K	possibly damaging	Het
Ankrd52	G	T	10: 128,389,351	A894S	probably benign	Het
Arhgap33	C	A	7: 30,527,229	V494L	probably damaging	Het
Atic	G	T	1: 71,568,971	V275F	probably damaging	Het
Atoh1	T	A	6: 64,729,684	V121E	probably damaging	Het
Atp5h	T	A	11: 115,416,038		probably null	Het
Baiap2l2	A	T	15: 79,261,974		probably null	Het
Brca2	A	T	5: 150,541,762	T1664S	probably benign	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,488,230		probably benign	Het
Cep350	A	T	1: 155,959,718		probably null	Het
Ces2g	T	C	8: 104,965,989		probably null	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cyp2d34	A	G	15: 82,616,167	F457S	probably damaging	Het
Disp3	T	A	4: 148,241,423	T1293S	probably damaging	Het
Dock10	T	A	1: 80,540,253	I1348F	possibly damaging	Het
Dsp	A	T	13: 38,196,404	H1776L	probably damaging	Het
Efhd1	A	T	1: 87,309,755	Q228L	possibly damaging	Het
Entpd2	T	A	2: 25,399,283	I259N	probably benign	Het
Fam149b	A	T	14: 20,375,510	M138L	probably damaging	Het
Fastkd5	T	C	2: 130,616,365	K102E	probably benign	Het
Fzd7	C	A	1: 59,484,536	T526K	possibly damaging	Het
G6pd2	T	A	5: 61,808,987	I35N	probably damaging	Het
Gars	T	A	6: 55,065,563	M427K	probably damaging	Het
Gimap4	C	T	6: 48,690,865	R57C	probably damaging	Het
Gm11232	C	A	4: 71,757,785	W41L	probably benign	Het
Gm15737	T	A	6: 92,879,720	C43*	probably null	Het
Gm853	A	T	4: 130,209,888	L420Q	probably benign	Het
Gpr180	T	C	14: 118,139,773	V62A	probably benign	Het
H2-M11	C	T	17: 36,548,150	T194I	possibly damaging	Het
Jakmip3	A	T	7: 138,989,468	E27V	possibly damaging	Het
Kcnq3	T	C	15: 66,031,427	T145A	probably damaging	Het
Krt8	A	G	15: 101,998,024	M350T	probably benign	Het
Krtap4-9	T	A	11: 99,785,666		probably benign	Het
Lbr	G	T	1: 181,836,127	D109E	probably damaging	Het
Med23	A	G	10: 24,888,575	H42R	probably damaging	Het
Mgat5	A	T	1: 127,307,004	M77L	probably benign	Het
Mlf1	A	T	3: 67,384,586	N28I	possibly damaging	Het
Mroh3	A	C	1: 136,198,126	L343R	probably damaging	Het
Mrpl37	T	A	4: 107,064,493	I180F	possibly damaging	Het
Mrps27	T	A	13: 99,400,328	C116*	probably null	Het
Muc6	A	G	7: 141,640,384	S1354P	possibly damaging	Het
Myh7	A	T	14: 54,983,242	D1033E	probably damaging	Het
Myo16	A	T	8: 10,594,820	E1717D	probably benign	Het
Myo1g	T	A	11: 6,512,539		probably null	Het
Olfr610	A	G	7: 103,506,160	M262T	probably benign	Het
Olfr815	A	C	10: 129,902,095	L205R	probably damaging	Het
Pan2	T	C	10: 128,313,897	L576P	probably damaging	Het
Parp8	A	G	13: 116,895,687	S278P	possibly damaging	Het
Pdk2	A	G	11: 95,027,202		probably null	Het
Phf1	T	C	17: 26,937,088	S450P	probably damaging	Het
Pkd1l2	T	C	8: 117,019,494	Y1919C	probably damaging	Het
Postn	T	A	3: 54,376,953	S614T	probably damaging	Het
Psmg1	A	T	16: 95,982,195	Y213*	probably null	Het
Rab11b	T	A	17: 33,747,718	T203S	probably benign	Het
Rad54l2	T	A	9: 106,703,626	T899S	possibly damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,246,545		probably benign	Het
Rapgef6	A	G	11: 54,687,711	T1028A	possibly damaging	Het
Rreb1	G	T	13: 37,929,792	A376S	possibly damaging	Het
Rsbn1l	T	A	5: 20,919,769	N345I	probably benign	Het
Sf3b2	A	T	19: 5,275,090	S785T	possibly damaging	Het
Sh2b1	C	T	7: 126,468,926	D519N	probably damaging	Het
Slitrk6	T	C	14: 110,750,272	T668A	probably benign	Het
Stkld1	T	A	2: 26,950,638	I444N	probably damaging	Het
Sucla2	A	T	14: 73,552,804		probably benign	Het
Tmem67	T	A	4: 12,079,918	L190F	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trem2	G	A	17: 48,351,835	W191*	probably null	Het
Ube2d4	A	T	15: 58,846,679		noncoding transcript	Het
Uimc1	G	T	13: 55,075,804	D218E	probably damaging	Het
Wdr62	A	T	7: 30,273,999	V95E	probably damaging	Het
Zfhx4	T	C	3: 5,245,143	V862A	probably damaging	Het
Zfp462	T	A	4: 55,008,522	S163T	probably benign	Het
Zfp704	T	C	3: 9,609,493	D76G	unknown	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
R2878:Rbm6	UTSW	9	107852450	missense	probably damaging	1.00
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	intron	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

Predicted Primers

PCR Primer
(F):5'- AGTAAGCCCTTCCCTTCGAGAG -3'
(R):5'- GTGTCTGTGTGAGTATAAACCAC -3'

Sequencing Primer
(F):5'- CCTTCCCTTCGAGAGTGAGG -3'
(R):5'- AGAGTGGCAAGCACTCTTTACTG -3'

Posted On

2014-12-04