Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01085:Rbm48'

51068

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: 0.922) question?

Stock #

IGL01085

Quality Score

Status

Chromosome

Chromosomal Location

3633980-3646091 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3634762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 401 (V401M)

Ref Sequence

ENSEMBL: ENSMUSP00000040952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008451] [ENSMUST00000042753] [ENSMUST00000125740] [ENSMUST00000147801]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000008451

SMART Domains

Protein: ENSMUSP00000008451
Gene: ENSMUSG00000008307

Domain	Start	End	E-Value	Type
EFh	68	96	1.56e-3	SMART
EFh	104	132	6.45e1	SMART
EFh	149	177	1.45e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042753
AA Change: V401M

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040952
Gene: ENSMUSG00000040302
AA Change: V401M

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: ENSMUST00000125740

SMART Domains

Protein: ENSMUSP00000117825
Gene: ENSMUSG00000008307

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	27	55	1e-8	PFAM
Pfam:EF-hand_6	27	62	8.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147801

SMART Domains

Protein: ENSMUSP00000118797
Gene: ENSMUSG00000008307

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	68	96	1.2e-7	PFAM
Pfam:EF-hand_6	68	99	1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156973

Predicted Effect

probably benign
Transcript: ENSMUST00000176000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198134

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
Aadac	A	G	3: 59,944,763 (GRCm39)		probably benign	Het
Acp7	T	C	7: 28,310,478 (GRCm39)	Y453C	probably damaging	Het
Bop1	T	C	15: 76,337,576 (GRCm39)	D683G	probably damaging	Het
Cacna1b	G	T	2: 24,569,006 (GRCm39)	R974S	probably damaging	Het
Ceacam23	A	T	7: 17,649,616 (GRCm39)	H729L	possibly damaging	Het
Cenpt	T	C	8: 106,573,297 (GRCm39)	E350G	possibly damaging	Het
Cep112	G	T	11: 108,377,432 (GRCm39)	R270L	probably damaging	Het
Crem	T	C	18: 3,299,236 (GRCm39)	T26A	probably damaging	Het
Crot	T	C	5: 9,023,955 (GRCm39)	H387R	probably damaging	Het
Fdxr	A	T	11: 115,160,402 (GRCm39)	V351E	probably benign	Het
Fkbpl	T	C	17: 34,864,718 (GRCm39)	L162P	probably damaging	Het
Fmn2	T	A	1: 174,523,220 (GRCm39)	N1358K	probably damaging	Het
Hectd4	G	T	5: 121,469,764 (GRCm39)	G2553V	probably damaging	Het
Ifna16	A	T	4: 88,594,969 (GRCm39)	I42K	probably benign	Het
Igfals	C	T	17: 25,100,634 (GRCm39)	T575I	probably benign	Het
Il6	G	T	5: 30,218,487 (GRCm39)	V28F	probably damaging	Het
Irx1	A	G	13: 72,107,816 (GRCm39)	S289P	probably benign	Het
Ncoa2	T	C	1: 13,219,303 (GRCm39)	T1245A	possibly damaging	Het
Nr3c2	G	T	8: 77,634,983 (GRCm39)	R28L	probably benign	Het
Nudt5	G	A	2: 5,869,238 (GRCm39)	V155I	probably benign	Het
Or9s13	G	T	1: 92,547,921 (GRCm39)	V98F	possibly damaging	Het
Pcm1	T	C	8: 41,762,640 (GRCm39)	S1395P	probably damaging	Het
Pkhd1l1	G	A	15: 44,426,148 (GRCm39)		probably null	Het
Prodh	A	T	16: 17,894,208 (GRCm39)	V339E	probably damaging	Het
Retreg3	G	A	11: 100,991,751 (GRCm39)	Q61*	probably null	Het
Rif1	A	G	2: 51,975,152 (GRCm39)	M354V	possibly damaging	Het
Rrn3	G	A	16: 13,626,926 (GRCm39)	V507M	probably damaging	Het
Safb2	T	A	17: 56,872,242 (GRCm39)	R197*	probably null	Het
Slc22a26	A	G	19: 7,767,464 (GRCm39)	V314A	probably benign	Het
Slfnl1	G	T	4: 120,390,553 (GRCm39)	R68L	probably damaging	Het
Spata1	G	T	3: 146,181,997 (GRCm39)	Q10K	possibly damaging	Het
Swi5	T	C	2: 32,170,739 (GRCm39)	M95V	possibly damaging	Het
Thpo	T	C	16: 20,547,205 (GRCm39)	D52G	probably damaging	Het
Tmem101	A	T	11: 102,045,486 (GRCm39)	L121Q	probably damaging	Het
Trim40	T	C	17: 37,194,133 (GRCm39)	I187V	probably benign	Het
Usp33	A	G	3: 152,074,206 (GRCm39)	K351E	possibly damaging	Het
Uvrag	T	C	7: 98,767,431 (GRCm39)	T67A	probably damaging	Het
Vcan	T	C	13: 89,828,077 (GRCm39)	D2163G	probably damaging	Het
Wnt7a	C	T	6: 91,385,771 (GRCm39)	V61I	probably benign	Het
Zfp804b	A	G	5: 6,820,931 (GRCm39)	S675P	probably 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
IGL02605:Rbm48	APN	5	3,640,600 (GRCm39)	missense	possibly damaging	0.53
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

2013-06-21