Mutagenetix > Incidental Mutations

Incidental Mutation 'R7240:Rbm6'

563150

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.896) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107773559-107873237 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107852896 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 184 (D184E)

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: D52E

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

SMART Domains

Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: D52E

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

probably damaging
Transcript: ENSMUST00000183032
AA Change: D184E

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

SMART Domains

Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: D184E

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

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075	I59T	unknown	Het
Aspm	C	T	1: 139,478,651	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Ccdc88c	C	T	12: 100,944,939	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123	M538I	probably benign	Het
E4f1	T	A	17: 24,444,325	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773	D310E		Het
Iqca	A	G	1: 90,070,550	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994	I273T	probably benign	Het
Olfr476	T	C	7: 107,968,188	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539		probably benign	Het
Rnase9	A	C	14: 51,038,979	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548		probably null	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876		probably null	Het
Ttn	A	G	2: 76,848,990	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449	S80P	probably benign	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
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
R7330:Rbm6	UTSW	9	107791045	missense	possibly damaging	0.77
R7397:Rbm6	UTSW	9	107852519	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATCAGTAGTAGCTGAACCTCGG -3'
(R):5'- CAGTTGGACTTCAGGAACAGG -3'

Sequencing Primer
(F):5'- GGCCTCTAAAGTCCACCTGTG -3'
(R):5'- CTTCAGGAACAGGGACATACATTCTG -3'

Posted On

2019-06-26