Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02456:Rbm47'

294185

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm47

Ensembl Gene

ENSMUSG00000070780

Gene Name

RNA binding motif protein 47

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

66016549-66173118 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66027021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 80 (R80C)

Ref Sequence

ENSEMBL: ENSMUSP00000144122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094756] [ENSMUST00000094757] [ENSMUST00000113724] [ENSMUST00000113726] [ENSMUST00000167950] [ENSMUST00000200775] [ENSMUST00000200852] [ENSMUST00000201544] [ENSMUST00000201561] [ENSMUST00000202700]

AlphaFold

Q91WT8

Predicted Effect

probably damaging
Transcript: ENSMUST00000094756
AA Change: R80C

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

SMART Domains

Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: R80C

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
RRM	72	145	7.19e-16	SMART
RRM	152	229	3.74e-5	SMART
RRM	247	314	1.21e-13	SMART
low complexity region	330	342	N/A	INTRINSIC
low complexity region	381	397	N/A	INTRINSIC
low complexity region	489	502	N/A	INTRINSIC
low complexity region	545	554	N/A	INTRINSIC
low complexity region	559	570	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094757
AA Change: R80C

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

SMART Domains

Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: R80C

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
RRM	72	145	7.19e-16	SMART
RRM	152	229	3.74e-5	SMART
RRM	247	314	1.21e-13	SMART
low complexity region	330	342	N/A	INTRINSIC
low complexity region	381	397	N/A	INTRINSIC
low complexity region	489	502	N/A	INTRINSIC
low complexity region	545	554	N/A	INTRINSIC
low complexity region	559	570	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113724
AA Change: R80C

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

SMART Domains

Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: R80C

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
RRM	72	145	7.19e-16	SMART
RRM	152	229	3.74e-5	SMART
RRM	247	314	1.21e-13	SMART
low complexity region	330	342	N/A	INTRINSIC
low complexity region	381	397	N/A	INTRINSIC
low complexity region	489	502	N/A	INTRINSIC
low complexity region	545	554	N/A	INTRINSIC
low complexity region	559	570	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113726
AA Change: R80C

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

SMART Domains

Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: R80C

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
RRM	72	145	7.19e-16	SMART
RRM	152	229	3.74e-5	SMART
RRM	247	314	1.21e-13	SMART
low complexity region	330	342	N/A	INTRINSIC
low complexity region	381	397	N/A	INTRINSIC
low complexity region	489	502	N/A	INTRINSIC
low complexity region	545	554	N/A	INTRINSIC
low complexity region	559	570	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167950
AA Change: R80C

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

SMART Domains

Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: R80C

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
RRM	72	145	7.19e-16	SMART
RRM	152	229	3.74e-5	SMART
RRM	247	314	1.21e-13	SMART
low complexity region	330	342	N/A	INTRINSIC
low complexity region	381	397	N/A	INTRINSIC
low complexity region	489	502	N/A	INTRINSIC
low complexity region	545	554	N/A	INTRINSIC
low complexity region	559	570	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200775
AA Change: R80C

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

SMART Domains

Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: R80C

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
RRM	72	145	7.19e-16	SMART
RRM	152	229	3.74e-5	SMART
RRM	247	314	1.21e-13	SMART
low complexity region	330	342	N/A	INTRINSIC
low complexity region	381	397	N/A	INTRINSIC
low complexity region	489	502	N/A	INTRINSIC
low complexity region	545	554	N/A	INTRINSIC
low complexity region	559	570	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200852
AA Change: R80C

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

SMART Domains

Protein: ENSMUSP00000144505
Gene: ENSMUSG00000070780
AA Change: R80C

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
RRM	72	145	7.19e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201311

Predicted Effect

probably damaging
Transcript: ENSMUST00000201544
AA Change: R80C

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

SMART Domains

Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: R80C

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
RRM	72	145	7.19e-16	SMART
RRM	152	229	3.74e-5	SMART
RRM	247	314	1.21e-13	SMART
low complexity region	330	342	N/A	INTRINSIC
low complexity region	381	397	N/A	INTRINSIC
low complexity region	489	502	N/A	INTRINSIC
low complexity region	545	554	N/A	INTRINSIC
low complexity region	559	570	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201561

Predicted Effect

probably benign
Transcript: ENSMUST00000202700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202794

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit partial prenatal lethality. Surviving adults are small and display impaired cytidine to uridine RNA editing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,261,124	L458Q	probably damaging	Het
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Ddx23	A	T	15: 98,647,549	V626E	probably damaging	Het
Gcm2	T	C	13: 41,103,001	Y424C	probably benign	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Ly75	C	T	2: 60,293,781	M1717I	probably benign	Het
Map1a	C	A	2: 121,298,653	P133T	probably damaging	Het
Mpp2	C	A	11: 102,059,373	A552S	possibly damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Nup85	T	C	11: 115,581,865		probably benign	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Phf2	C	A	13: 48,828,846	G134C	unknown	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,616,834		probably benign	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc13	T	C	8: 124,690,361		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,823,639	D801E	possibly damaging	Het

Other mutations in Rbm47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Rbm47	APN	5	66026738	missense	possibly damaging	0.75
IGL01648:Rbm47	APN	5	66024978	missense	possibly damaging	0.59
IGL02323:Rbm47	APN	5	66026429	missense	probably damaging	1.00
IGL03329:Rbm47	APN	5	66026693	missense	probably damaging	0.98
PIT4402001:Rbm47	UTSW	5	66027011	missense	probably damaging	1.00
R0131:Rbm47	UTSW	5	66026529	missense	possibly damaging	0.86
R1575:Rbm47	UTSW	5	66025015	missense	probably benign	0.00
R1587:Rbm47	UTSW	5	66024991	missense	probably benign	0.23
R1645:Rbm47	UTSW	5	66027138	missense	probably benign	0.44
R1750:Rbm47	UTSW	5	66019310	missense	possibly damaging	0.78
R4085:Rbm47	UTSW	5	66022737	missense	probably benign	0.05
R4087:Rbm47	UTSW	5	66022737	missense	probably benign	0.05
R4090:Rbm47	UTSW	5	66022737	missense	probably benign	0.05
R4280:Rbm47	UTSW	5	66026177	missense	probably damaging	1.00
R4714:Rbm47	UTSW	5	66025052	missense	probably damaging	1.00
R4744:Rbm47	UTSW	5	66026693	missense	probably damaging	0.98
R4807:Rbm47	UTSW	5	66019304	missense	possibly damaging	0.71
R5453:Rbm47	UTSW	5	66027182	missense	probably benign	0.07
R6090:Rbm47	UTSW	5	66026283	missense	probably damaging	1.00
R6091:Rbm47	UTSW	5	66026283	missense	probably damaging	1.00
R6136:Rbm47	UTSW	5	66026283	missense	probably damaging	1.00
R6137:Rbm47	UTSW	5	66026283	missense	probably damaging	1.00
R6159:Rbm47	UTSW	5	66026816	missense	probably damaging	0.99
R6181:Rbm47	UTSW	5	66026490	missense	possibly damaging	0.92
R6425:Rbm47	UTSW	5	66022816	missense	probably damaging	1.00
R7292:Rbm47	UTSW	5	66026750	missense	possibly damaging	0.86
R7332:Rbm47	UTSW	5	66026214	missense	probably damaging	1.00
R7405:Rbm47	UTSW	5	66026495	missense	probably damaging	0.98
R8114:Rbm47	UTSW	5	66026853	missense	probably benign	0.00
R8348:Rbm47	UTSW	5	66027230	missense	possibly damaging	0.60
R8448:Rbm47	UTSW	5	66027230	missense	possibly damaging	0.60
R8674:Rbm47	UTSW	5	66019399	missense	possibly damaging	0.63
R9339:Rbm47	UTSW	5	66026483	missense	possibly damaging	0.93
Z1176:Rbm47	UTSW	5	66022672	missense	probably benign	0.04
Z1176:Rbm47	UTSW	5	66026979	missense	probably benign	0.30

Posted On

2015-04-16