Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

IGL02605

Quality Score

Status

Chromosome

Chromosomal Location

3633980-3646091 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3640600 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 103,547,602 (GRCm39)	Y992F	probably benign	Het
Adgrg6	T	A	10: 14,342,976 (GRCm39)	N324Y	probably damaging	Het
Ampd3	T	C	7: 110,394,965 (GRCm39)	F305L	probably benign	Het
Ankrd35	A	G	3: 96,588,388 (GRCm39)		probably null	Het
Api5	A	G	2: 94,260,064 (GRCm39)	I64T	possibly damaging	Het
Arhgap21	A	G	2: 20,860,399 (GRCm39)	I1165T	probably damaging	Het
Bdp1	T	C	13: 100,214,623 (GRCm39)		probably null	Het
Capn3	T	A	2: 120,326,518 (GRCm39)	I570N	probably damaging	Het
Catsperg2	T	C	7: 29,418,990 (GRCm39)	H232R	possibly damaging	Het
Clcn7	T	C	17: 25,365,792 (GRCm39)	L156P	possibly damaging	Het
Cpa3	C	A	3: 20,276,376 (GRCm39)	V286F	probably benign	Het
Csrnp3	G	A	2: 65,853,153 (GRCm39)	C527Y	probably damaging	Het
Dock5	A	T	14: 68,065,887 (GRCm39)	V372E	probably benign	Het
Elmo1	T	C	13: 20,789,372 (GRCm39)	L696P	probably damaging	Het
Fam91a1	T	C	15: 58,303,045 (GRCm39)		probably benign	Het
Gm12695	T	A	4: 96,650,988 (GRCm39)	D155V	probably null	Het
Hspa4l	A	G	3: 40,736,055 (GRCm39)	I559V	probably benign	Het
Kdm1a	G	T	4: 136,278,348 (GRCm39)		probably benign	Het
Lrrc8d	A	T	5: 105,974,683 (GRCm39)		noncoding transcript	Het
Minpp1	A	T	19: 32,475,815 (GRCm39)	Y316F	possibly damaging	Het
Neto2	T	C	8: 86,390,064 (GRCm39)		probably benign	Het
Nrxn2	T	A	19: 6,500,610 (GRCm39)	D277E	probably benign	Het
Ola1	A	G	2: 72,972,644 (GRCm39)		probably benign	Het
Or4k48	A	G	2: 111,475,850 (GRCm39)	V164A	probably benign	Het
Or51r1	T	C	7: 102,228,602 (GRCm39)	I300T	probably damaging	Het
Or8c15	T	A	9: 38,120,532 (GRCm39)	M61K	probably damaging	Het
Pam	A	G	1: 97,768,064 (GRCm39)	V722A	possibly damaging	Het
Pfdn6	T	C	17: 34,158,077 (GRCm39)	Y90C	probably benign	Het
Pkhd1	T	A	1: 20,621,126 (GRCm39)	H844L	possibly damaging	Het
Plk5	G	A	10: 80,198,896 (GRCm39)	V422M	probably damaging	Het
Psmc1	G	T	12: 100,085,386 (GRCm39)	R249L	probably damaging	Het
Ptpro	C	T	6: 137,357,316 (GRCm39)	P269L	probably benign	Het
Ralgapa1	G	T	12: 55,759,450 (GRCm39)	H1480Q	possibly damaging	Het
Rars1	G	A	11: 35,715,353 (GRCm39)		probably benign	Het
Smarcc1	C	T	9: 110,051,068 (GRCm39)	H963Y	possibly damaging	Het
Spef2	T	C	15: 9,725,238 (GRCm39)	E230G	probably damaging	Het
Spg11	A	G	2: 121,922,741 (GRCm39)	S903P	probably benign	Het
Tas2r122	T	C	6: 132,688,572 (GRCm39)	Y107C	probably damaging	Het
Tpm3	C	A	3: 89,995,753 (GRCm39)	N204K	probably benign	Het
Wdr36	T	C	18: 32,985,044 (GRCm39)	I450T	possibly damaging	Het

Other mutations in Rbm48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00851:Rbm48	APN	5	3,641,739 (GRCm39)	missense	probably damaging	0.99
IGL01085:Rbm48	APN	5	3,634,762 (GRCm39)	missense	probably benign	0.38
R0811:Rbm48	UTSW	5	3,641,760 (GRCm39)	splice site	probably null
R0812:Rbm48	UTSW	5	3,641,760 (GRCm39)	splice site	probably null
R0862:Rbm48	UTSW	5	3,640,438 (GRCm39)	missense	probably benign	0.34
R1866:Rbm48	UTSW	5	3,645,997 (GRCm39)	missense	probably damaging	1.00
R1876:Rbm48	UTSW	5	3,645,259 (GRCm39)	missense	probably damaging	1.00
R3029:Rbm48	UTSW	5	3,646,043 (GRCm39)	missense	possibly damaging	0.70
R3159:Rbm48	UTSW	5	3,646,105 (GRCm39)	missense	possibly damaging	0.87
R4385:Rbm48	UTSW	5	3,640,300 (GRCm39)	missense	probably damaging	1.00
R4878:Rbm48	UTSW	5	3,641,853 (GRCm39)	unclassified	probably benign
R5176:Rbm48	UTSW	5	3,645,444 (GRCm39)	missense	probably damaging	1.00
R5276:Rbm48	UTSW	5	3,634,759 (GRCm39)	missense	probably benign
R6812:Rbm48	UTSW	5	3,646,105 (GRCm39)	missense	probably benign	0.23
R7059:Rbm48	UTSW	5	3,640,625 (GRCm39)	nonsense	probably null
R7993:Rbm48	UTSW	5	3,640,470 (GRCm39)	missense	probably benign	0.14
R8994:Rbm48	UTSW	5	3,640,795 (GRCm39)	missense	probably benign

Posted On

2015-04-16