Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4402001:Rbm47'

555515

Institutional Source

Beutler Lab

Gene Symbol

Rbm47

Ensembl Gene

ENSMUSG00000070780

Gene Name

RNA binding motif protein 47

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

PIT4402001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66016549-66173118 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66027011 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 83 (Y83F)

Ref Sequence

ENSEMBL: ENSMUSP00000092349 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000094756
AA Change: Y83F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: Y83F

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: Y83F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: Y83F

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: Y83F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: Y83F

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: Y83F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: Y83F

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: Y83F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: Y83F

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: Y83F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: Y83F

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: Y83F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144505
Gene: ENSMUSG00000070780
AA Change: Y83F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000201544
AA Change: Y83F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: Y83F

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

Coding Region Coverage

1x: 92.8%
3x: 90.3%
10x: 83.2%
20x: 68.1%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	G	14: 59,142,635	L71F	probably damaging	Het
Adamts9	C	T	6: 92,872,347	V1044I	probably benign	Het
Alcam	T	C	16: 52,295,134	Y207C	probably damaging	Het
Aldh4a1	C	A	4: 139,642,191	S351*	probably null	Het
Aoah	C	A	13: 20,794,510	S39R	probably benign	Het
Arcn1	A	T	9: 44,745,602	V421E	possibly damaging	Het
Ccdc18	A	G	5: 108,158,619	E300G	possibly damaging	Het
Cdk2ap2	C	A	19: 4,098,557	R126S	probably damaging	Het
Dcun1d4	A	G	5: 73,510,933	I39V	probably benign	Het
Fam53b	A	T	7: 132,760,017	I94N	probably damaging	Het
Fam83g	A	G	11: 61,703,596	H652R	probably damaging	Het
Fanca	A	T	8: 123,313,064	M157K	possibly damaging	Het
Flt1	A	T	5: 147,678,239	I299N	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016		probably null	Het
Gns	A	G	10: 121,376,706	Y191C	probably damaging	Het
Grin2a	T	C	16: 9,644,199	T690A	possibly damaging	Het
Gsk3b	C	T	16: 38,089,401		probably benign	Het
Igsf10	A	G	3: 59,325,579	V1911A	probably benign	Het
Igsf3	A	G	3: 101,427,077	K157E	probably benign	Het
Inpp5a	T	C	7: 139,511,453	Y118H	probably benign	Het
Kmt2a	A	G	9: 44,841,062	V1413A	unknown	Het
Mettl9	T	A	7: 121,057,217	V190E	probably damaging	Het
Mrps9	T	C	1: 42,896,098	L188P	probably benign	Het
Myo9a	A	T	9: 59,870,436	R1158S	possibly damaging	Het
Nacad	T	G	11: 6,598,621	Q1371P	probably benign	Het
Ncoa1	T	C	12: 4,294,987	M787V	probably benign	Het
Noxred1	A	T	12: 87,227,081	I62K	probably benign	Het
Olfr1390	A	G	11: 49,341,399	Y289C	probably damaging	Het
Olfr1532-ps1	T	A	7: 106,915,087	D296E	possibly damaging	Het
Olfr350	A	T	2: 36,850,304	H86L	probably benign	Het
Olfr646	A	G	7: 104,106,450	Y57C	probably damaging	Het
Otud6b	A	G	4: 14,818,185	Y239H	probably damaging	Het
Pank1	A	G	19: 34,840,966	Y233H	probably damaging	Het
Pccb	G	T	9: 100,995,592	D286E	probably benign	Het
Plek	A	C	11: 16,990,121	L196R	probably benign	Het
Pou6f2	T	C	13: 18,125,346	H576R		Het
Rbm6	A	T	9: 107,787,850	Y787N	probably damaging	Het
Slc8a2	C	A	7: 16,134,494	A217E	probably damaging	Het
Suox	G	A	10: 128,671,295	A288V	probably damaging	Het
Tbccd1	T	C	16: 22,822,123	I501M	probably damaging	Het
Tjp2	C	A	19: 24,098,129	G1042*	probably null	Het
Tmtc2	T	C	10: 105,413,407	Y155C	probably damaging	Het
Usp7	T	C	16: 8,698,495	N600S	probably benign	Het
Zer1	T	C	2: 30,101,120	I699V	probably damaging	Het
Zfp142	A	G	1: 74,579,528	F227S	probably 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
IGL02456:Rbm47	APN	5	66027021	missense	probably damaging	1.00
IGL03329:Rbm47	APN	5	66026693	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- AGTTGTCCACACTACAGCAC -3'
(R):5'- AACAGCGATCCAACAGTGGG -3'

Sequencing Primer
(F):5'- CACACCCAGCAGACGGC -3'
(R):5'- ATCCAACAGTGGGGTCCTC -3'

Posted On

2019-06-07