Mutagenetix > Incidental Mutation

Incidental Mutation 'R4878:Rbm48'

375050

Institutional Source

Beutler Lab

Gene Symbol

Rbm48

Ensembl Gene

ENSMUSG00000040302

Gene Name

RNA binding motif protein 48

Synonyms

C030048B08Rik

MMRRC Submission

042487-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3583978-3596585 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 3591853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000042753] [ENSMUST00000121291] [ENSMUST00000121877] [ENSMUST00000142516] [ENSMUST00000195894]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006061

SMART Domains

Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907

Domain	Start	End	E-Value	Type
Pfam:PEX-2N	14	99	2.4e-53	PFAM
Pfam:PEX-1N	103	179	8.6e-27	PFAM
low complexity region	508	527	N/A	INTRINSIC
AAA	552	702	1.39e-10	SMART
low complexity region	754	765	N/A	INTRINSIC
AAA	834	970	4.07e-17	SMART
low complexity region	1024	1044	N/A	INTRINSIC
low complexity region	1051	1061	N/A	INTRINSIC
low complexity region	1065	1078	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000042753

SMART Domains

Protein: ENSMUSP00000040952
Gene: ENSMUSG00000040302

Domain	Start	End	E-Value	Type
Pfam:RRM_5	104	164	6.5e-11	PFAM
low complexity region	229	239	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121291

SMART Domains

Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907

Domain	Start	End	E-Value	Type
Pfam:PEX-2N	17	98	8.7e-38	PFAM
Pfam:PEX-1N	104	179	1.4e-27	PFAM
low complexity region	548	567	N/A	INTRINSIC
AAA	592	742	1.39e-10	SMART
low complexity region	794	805	N/A	INTRINSIC
AAA	874	1010	4.07e-17	SMART
low complexity region	1064	1084	N/A	INTRINSIC
low complexity region	1091	1101	N/A	INTRINSIC
low complexity region	1105	1118	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121877

SMART Domains

Protein: ENSMUSP00000112547
Gene: ENSMUSG00000040302

Domain	Start	End	E-Value	Type
Blast:RRM	52	106	1e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135809

Predicted Effect

probably benign
Transcript: ENSMUST00000142516

SMART Domains

Protein: ENSMUSP00000116474
Gene: ENSMUSG00000005907

Domain	Start	End	E-Value	Type
PDB:1WLF\|A	1	21	5e-8	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000176000

Predicted Effect

probably benign
Transcript: ENSMUST00000195894

SMART Domains

Protein: ENSMUSP00000142620
Gene: ENSMUSG00000005907

Domain	Start	End	E-Value	Type
Pfam:PEX-2N	14	99	2.5e-51	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,613,845	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,035,086	N159I	possibly damaging	Het
Agrn	A	T	4: 156,170,845	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Atg2a	A	T	19: 6,250,244	E694V	probably damaging	Het
Ccndbp1	T	A	2: 121,014,691	L363*	probably null	Het
Cdh16	A	T	8: 104,618,064	D478E	probably damaging	Het
Cep295	A	T	9: 15,334,956	W735R	probably benign	Het
Cnnm2	C	T	19: 46,859,083	P682S	probably benign	Het
Daam2	C	A	17: 49,460,710	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,851,476	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,599,034		probably benign	Het
Efemp2	A	T	19: 5,480,761		probably benign	Het
Emilin1	A	G	5: 30,917,066	D217G	probably benign	Het
Enpep	A	T	3: 129,276,771	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,798,572	V623A	probably damaging	Het
Erlin2	T	A	8: 27,027,166		probably null	Het
Fbln2	T	C	6: 91,256,995		probably null	Het
Gga3	A	T	11: 115,591,321	I157N	probably damaging	Het
Gm884	A	G	11: 103,617,891		probably benign	Het
Gtpbp6	C	T	5: 110,107,311		probably benign	Het
Hps4	T	C	5: 112,375,368	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,119,947	Y51C	probably benign	Het
Kif13b	T	C	14: 64,806,154	L1801P	probably benign	Het
Kif16b	T	C	2: 142,848,003	I330V	probably damaging	Het
Klb	A	T	5: 65,348,490	R27W	probably damaging	Het
Lrif1	A	T	3: 106,735,640	K169M	probably damaging	Het
Met	A	G	6: 17,549,059	D970G	probably damaging	Het
Mical3	A	T	6: 120,969,387	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094	N97D	probably benign	Het
Msh5	G	A	17: 35,038,456	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,551,430	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,275,004	G970D	probably damaging	Het
Neb	T	C	2: 52,219,394	Y232C	probably damaging	Het
Nefh	A	G	11: 4,941,333	S429P	probably damaging	Het
Notch3	C	T	17: 32,147,085	G1014D	probably damaging	Het
Nup107	A	T	10: 117,751,418	C859S	probably benign	Het
Olfr1033	A	G	2: 86,041,455	I47V	probably benign	Het
Olfr136	T	G	17: 38,335,627	F157V	probably benign	Het
Olfr412	T	C	11: 74,364,848	Y60H	probably damaging	Het
Otud7b	T	A	3: 96,136,510		probably benign	Het
Pde1a	A	T	2: 79,878,139	S312T	probably benign	Het
Piwil1	G	T	5: 128,740,981	R94L	probably damaging	Het
Pnma2	G	A	14: 66,917,054	W309*	probably null	Het
Ppef2	A	C	5: 92,228,740		probably null	Het
Rabac1	T	A	7: 24,969,967	Q212L	possibly damaging	Het
Rad51	T	C	2: 119,120,492		probably benign	Het
Rft1	C	T	14: 30,677,804	S315L	probably benign	Het
Rgs13	C	T	1: 144,171,479	M1I	probably null	Het
Rhbg	A	C	3: 88,247,453	S215A	probably benign	Het
Rufy2	A	T	10: 63,002,211	N379I	probably damaging	Het
Slc17a1	T	C	13: 23,880,654	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,403,675	R308C	probably benign	Het
Smo	A	G	6: 29,753,571	T149A	probably benign	Het
Sqle	A	G	15: 59,316,085	K81E	probably benign	Het
Tfpi	A	G	2: 84,452,555		probably null	Het
Tnk2	A	G	16: 32,679,630	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,564	M1149K	probably benign	Het
Utrn	T	A	10: 12,727,758	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,808,205	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,890,800	G184*	probably null	Het

Other mutations in Rbm48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00851:Rbm48	APN	5	3,591,739 (GRCm38)	missense	probably damaging	0.99
IGL01085:Rbm48	APN	5	3,584,762 (GRCm38)	missense	probably benign	0.38
IGL02605:Rbm48	APN	5	3,590,600 (GRCm38)	missense	possibly damaging	0.53
R0811:Rbm48	UTSW	5	3,591,760 (GRCm38)	splice site	probably null
R0812:Rbm48	UTSW	5	3,591,760 (GRCm38)	splice site	probably null
R0862:Rbm48	UTSW	5	3,590,438 (GRCm38)	missense	probably benign	0.34
R1866:Rbm48	UTSW	5	3,595,997 (GRCm38)	missense	probably damaging	1.00
R1876:Rbm48	UTSW	5	3,595,259 (GRCm38)	missense	probably damaging	1.00
R3029:Rbm48	UTSW	5	3,596,043 (GRCm38)	missense	possibly damaging	0.70
R3159:Rbm48	UTSW	5	3,596,105 (GRCm38)	missense	possibly damaging	0.87
R4385:Rbm48	UTSW	5	3,590,300 (GRCm38)	missense	probably damaging	1.00
R5176:Rbm48	UTSW	5	3,595,444 (GRCm38)	missense	probably damaging	1.00
R5276:Rbm48	UTSW	5	3,584,759 (GRCm38)	missense	probably benign
R6812:Rbm48	UTSW	5	3,596,105 (GRCm38)	missense	probably benign	0.23
R7059:Rbm48	UTSW	5	3,590,625 (GRCm38)	nonsense	probably null
R7993:Rbm48	UTSW	5	3,590,470 (GRCm38)	missense	probably benign	0.14
R8994:Rbm48	UTSW	5	3,590,795 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTAGCAGTGCCTGATACAC -3'
(R):5'- TGTCTAACTCTAGCTCCAGGC -3'

Sequencing Primer
(F):5'- GTTAACACACACTTTCCATACCTTG -3'
(R):5'- CCAGATCTATATAGTGAGGCCCTG -3'

Posted On

2016-03-17