Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02605:Rbm48'

300230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm48

Ensembl Gene

ENSMUSG00000040302

Gene Name

RNA binding motif protein 48

Synonyms

C030048B08Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.918) question?

Stock #

IGL02605

Quality Score

Status

Chromosome

Chromosomal Location

3583978-3596585 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3590600 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 260 (R260C)

Ref Sequence

ENSEMBL: ENSMUSP00000040952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042753] [ENSMUST00000121877]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042753
AA Change: R260C

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040952
Gene: ENSMUSG00000040302
AA Change: R260C

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: 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: ENSMUST00000176000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198718

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,717,257	Y992F	probably benign	Het
Adgrg6	T	A	10: 14,467,232	N324Y	probably damaging	Het
Ampd3	T	C	7: 110,795,758	F305L	probably benign	Het
Ankrd35	A	G	3: 96,681,072		probably null	Het
Api5	A	G	2: 94,429,719	I64T	possibly damaging	Het
Arhgap21	A	G	2: 20,855,588	I1165T	probably damaging	Het
Bdp1	T	C	13: 100,078,115		probably null	Het
Capn3	T	A	2: 120,496,037	I570N	probably damaging	Het
Catsperg2	T	C	7: 29,719,565	H232R	possibly damaging	Het
Clcn7	T	C	17: 25,146,818	L156P	possibly damaging	Het
Cpa3	C	A	3: 20,222,212	V286F	probably benign	Het
Csrnp3	G	A	2: 66,022,809	C527Y	probably damaging	Het
Dock5	A	T	14: 67,828,438	V372E	probably benign	Het
Elmo1	T	C	13: 20,605,202	L696P	probably damaging	Het
Fam91a1	T	C	15: 58,431,196		probably benign	Het
Gm12695	T	A	4: 96,762,751	D155V	probably null	Het
Hspa4l	A	G	3: 40,781,623	I559V	probably benign	Het
Kdm1a	G	T	4: 136,551,037		probably benign	Het
Lrrc8d	A	T	5: 105,826,817		noncoding transcript	Het
Minpp1	A	T	19: 32,498,415	Y316F	possibly damaging	Het
Neto2	T	C	8: 85,663,435		probably benign	Het
Nrxn2	T	A	19: 6,450,580	D277E	probably benign	Het
Ola1	A	G	2: 73,142,300		probably benign	Het
Olfr1298	A	G	2: 111,645,505	V164A	probably benign	Het
Olfr550	T	C	7: 102,579,395	I300T	probably damaging	Het
Olfr893	T	A	9: 38,209,236	M61K	probably damaging	Het
Pam	A	G	1: 97,840,339	V722A	possibly damaging	Het
Pfdn6	T	C	17: 33,939,103	Y90C	probably benign	Het
Pkhd1	T	A	1: 20,550,902	H844L	possibly damaging	Het
Plk5	G	A	10: 80,363,062	V422M	probably damaging	Het
Psmc1	G	T	12: 100,119,127	R249L	probably damaging	Het
Ptpro	C	T	6: 137,380,318	P269L	probably benign	Het
Ralgapa1	G	T	12: 55,712,665	H1480Q	possibly damaging	Het
Rars	G	A	11: 35,824,526		probably benign	Het
Smarcc1	C	T	9: 110,222,000	H963Y	possibly damaging	Het
Spef2	T	C	15: 9,725,152	E230G	probably damaging	Het
Spg11	A	G	2: 122,092,260	S903P	probably benign	Het
Tas2r122	T	C	6: 132,711,609	Y107C	probably damaging	Het
Tpm3	C	A	3: 90,088,446	N204K	probably benign	Het
Wdr36	T	C	18: 32,851,991	I450T	possibly damaging	Het

Other mutations in Rbm48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00851:Rbm48	APN	5	3591739	missense	probably damaging	0.99
IGL01085:Rbm48	APN	5	3584762	missense	probably benign	0.38
R0811:Rbm48	UTSW	5	3591760	splice site	probably null
R0812:Rbm48	UTSW	5	3591760	splice site	probably null
R0862:Rbm48	UTSW	5	3590438	missense	probably benign	0.34
R1866:Rbm48	UTSW	5	3595997	missense	probably damaging	1.00
R1876:Rbm48	UTSW	5	3595259	missense	probably damaging	1.00
R3029:Rbm48	UTSW	5	3596043	missense	possibly damaging	0.70
R3159:Rbm48	UTSW	5	3596105	missense	possibly damaging	0.87
R4385:Rbm48	UTSW	5	3590300	missense	probably damaging	1.00
R4878:Rbm48	UTSW	5	3591853	unclassified	probably benign
R5176:Rbm48	UTSW	5	3595444	missense	probably damaging	1.00
R5276:Rbm48	UTSW	5	3584759	missense	probably benign
R6812:Rbm48	UTSW	5	3596105	missense	probably benign	0.23
R7059:Rbm48	UTSW	5	3590625	nonsense	probably null
R7993:Rbm48	UTSW	5	3590470	missense	probably benign	0.14

Posted On

2015-04-16