Mutagenetix > Incidental Mutation

Incidental Mutation 'R7405:Rbm47'

574496

Institutional Source

Beutler Lab

Gene Symbol

Rbm47

Ensembl Gene

ENSMUSG00000070780

Gene Name

RNA binding motif protein 47

Synonyms

9530077J19Rik

MMRRC Submission

045376-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R7405 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66173892-66309297 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66183838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 255 (I255N)

Ref Sequence

ENSEMBL: ENSMUSP00000092349 (fasta)

Gene Model

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

AlphaFold

Q91WT8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094756
AA Change: I255N

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: I255N

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: I255N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: I255N

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: I255N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: I255N

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: I255N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: I255N

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: I255N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: I255N

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: I255N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: I255N

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: ENSMUST00000200852

SMART Domains

Protein: ENSMUSP00000144505
Gene: ENSMUSG00000070780

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: I255N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: I255N

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 9,220,649 (GRCm39)	V383L	probably damaging	Het
4930507D05Rik	C	A	10: 62,285,563 (GRCm39)	H96N	unknown	Het
5730480H06Rik	T	C	5: 48,545,458 (GRCm39)	I235T	possibly damaging	Het
Abcb11	A	G	2: 69,117,963 (GRCm39)	Y472H	probably damaging	Het
Adam39	A	T	8: 41,277,659 (GRCm39)	I17L	probably benign	Het
Aire	T	C	10: 77,870,447 (GRCm39)	H458R	probably benign	Het
Ap3d1	T	C	10: 80,577,734 (GRCm39)	D31G	probably benign	Het
Atad2b	T	A	12: 4,993,232 (GRCm39)	H250Q	probably benign	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Borcs5	C	A	6: 134,662,945 (GRCm39)	T74N	probably benign	Het
Btbd16	C	T	7: 130,407,586 (GRCm39)	T292I	probably benign	Het
Catsperd	G	A	17: 56,939,335 (GRCm39)	V55M	possibly damaging	Het
Cfap107	T	C	4: 144,146,323 (GRCm39)	N110S	probably damaging	Het
Ctr9	T	C	7: 110,642,921 (GRCm39)	F462S	possibly damaging	Het
Cyp4f39	A	G	17: 32,700,789 (GRCm39)	S153G	probably benign	Het
Ddo	T	C	10: 40,523,993 (GRCm39)	C328R	possibly damaging	Het
Ddr1	A	G	17: 36,000,992 (GRCm39)	V251A	probably damaging	Het
Dis3l	A	G	9: 64,221,986 (GRCm39)	F475L	probably damaging	Het
Dkk4	G	A	8: 23,115,859 (GRCm39)	V99M	probably benign	Het
Dync1h1	C	T	12: 110,600,654 (GRCm39)	A1938V	probably damaging	Het
Ecel1	A	T	1: 87,081,238 (GRCm39)		probably null	Het
Fbxo7	T	A	10: 85,880,445 (GRCm39)	Y377N	probably damaging	Het
Fbxw24	T	C	9: 109,436,136 (GRCm39)	I299V	possibly damaging	Het
Fkbp10	C	T	11: 100,306,707 (GRCm39)	A33V	probably damaging	Het
Gabra1	T	C	11: 42,045,850 (GRCm39)	T87A	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Golga3	A	T	5: 110,356,312 (GRCm39)	I1000F	probably damaging	Het
Grid2ip	T	C	5: 143,366,199 (GRCm39)	I563T	probably benign	Het
Gsx1	T	C	5: 147,125,943 (GRCm39)	S82P	possibly damaging	Het
Heg1	A	G	16: 33,583,819 (GRCm39)	K34E	possibly damaging	Het
Kank1	T	A	19: 25,387,683 (GRCm39)	L452*	probably null	Het
Lce1k	A	T	3: 92,714,181 (GRCm39)	M1K	probably null	Het
Lcmt2	A	G	2: 120,969,868 (GRCm39)	I185T	probably benign	Het
Lrp1	T	C	10: 127,417,620 (GRCm39)	D1046G	possibly damaging	Het
Lrrc37	A	T	11: 103,505,987 (GRCm39)	Y1994N	probably benign	Het
Mast3	A	T	8: 71,238,815 (GRCm39)	D496E	probably damaging	Het
Mst1r	C	T	9: 107,792,321 (GRCm39)	S925F	possibly damaging	Het
Mterf2	C	T	10: 84,956,360 (GRCm39)	G88D	probably damaging	Het
Mthfd1	T	C	12: 76,358,648 (GRCm39)	V783A	probably damaging	Het
Mybpc2	A	T	7: 44,156,618 (GRCm39)	W778R	probably damaging	Het
Nbea	A	G	3: 55,712,687 (GRCm39)	L2130P	possibly damaging	Het
Ndst4	A	G	3: 125,476,865 (GRCm39)	N30S	probably benign	Het
Nphs1	T	C	7: 30,162,253 (GRCm39)	V299A	possibly damaging	Het
Nup107	T	C	10: 117,606,320 (GRCm39)	D474G	probably benign	Het
Or10ag56	A	C	2: 87,139,339 (GRCm39)	I89L	probably benign	Het
Or10w1	T	C	19: 13,632,246 (GRCm39)	V151A	probably benign	Het
Or2w25	T	A	11: 59,504,899 (GRCm39)	F370I	possibly damaging	Het
Or7a42	T	C	10: 78,791,531 (GRCm39)	V164A	probably benign	Het
Pgap2	T	C	7: 101,880,595 (GRCm39)	V41A	probably benign	Het
Plekhh1	C	T	12: 79,101,821 (GRCm39)	T297I	probably benign	Het
Plxna4	A	T	6: 32,173,254 (GRCm39)	Y1226N	probably benign	Het
Polr3b	A	G	10: 84,520,043 (GRCm39)	D653G	probably benign	Het
Ppp2r2c	T	C	5: 37,104,486 (GRCm39)	F289L	possibly damaging	Het
Prickle2	A	G	6: 92,435,524 (GRCm39)	S82P	probably damaging	Het
Ptger2	T	A	14: 45,226,531 (GRCm39)	V37D	probably damaging	Het
Rasa2	G	A	9: 96,448,080 (GRCm39)	P526S	probably benign	Het
Sez6	A	T	11: 77,853,717 (GRCm39)	T296S	probably benign	Het
Slc2a9	T	A	5: 38,549,167 (GRCm39)	I316F	probably damaging	Het
Slc41a1	T	A	1: 131,766,884 (GRCm39)	V134D	probably damaging	Het
Slc5a7	A	T	17: 54,604,161 (GRCm39)	S2T	probably benign	Het
Slc9a4	C	T	1: 40,640,086 (GRCm39)	R293C	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Suco	A	G	1: 161,655,783 (GRCm39)	F1039L	possibly damaging	Het
Sycp1	A	G	3: 102,832,543 (GRCm39)	Y208H	possibly damaging	Het
Tpr	T	C	1: 150,317,878 (GRCm39)	S2129P	probably benign	Het
Trim34b	T	A	7: 103,985,690 (GRCm39)	S442T	probably damaging	Het
Ttn	A	T	2: 76,573,690 (GRCm39)	Y25734*	probably null	Het
Uchl5	C	T	1: 143,675,752 (GRCm39)	Q276*	probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Yeats2	T	A	16: 20,041,663 (GRCm39)	D1184E	probably damaging	Het
Zfat	G	A	15: 68,056,334 (GRCm39)	R241W	probably damaging	Het
Zfp646	T	A	7: 127,477,968 (GRCm39)	Y48*	probably null	Het
Zfp998	T	C	13: 66,579,118 (GRCm39)	Q455R	unknown	Het

Other mutations in Rbm47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Rbm47	APN	5	66,184,081 (GRCm39)	missense	possibly damaging	0.75
IGL01648:Rbm47	APN	5	66,182,321 (GRCm39)	missense	possibly damaging	0.59
IGL02323:Rbm47	APN	5	66,183,772 (GRCm39)	missense	probably damaging	1.00
IGL02456:Rbm47	APN	5	66,184,364 (GRCm39)	missense	probably damaging	1.00
IGL03329:Rbm47	APN	5	66,184,036 (GRCm39)	missense	probably damaging	0.98
PIT4402001:Rbm47	UTSW	5	66,184,354 (GRCm39)	missense	probably damaging	1.00
R0131:Rbm47	UTSW	5	66,183,872 (GRCm39)	missense	possibly damaging	0.86
R1575:Rbm47	UTSW	5	66,182,358 (GRCm39)	missense	probably benign	0.00
R1587:Rbm47	UTSW	5	66,182,334 (GRCm39)	missense	probably benign	0.23
R1645:Rbm47	UTSW	5	66,184,481 (GRCm39)	missense	probably benign	0.44
R1750:Rbm47	UTSW	5	66,176,653 (GRCm39)	missense	possibly damaging	0.78
R4085:Rbm47	UTSW	5	66,180,080 (GRCm39)	missense	probably benign	0.05
R4087:Rbm47	UTSW	5	66,180,080 (GRCm39)	missense	probably benign	0.05
R4090:Rbm47	UTSW	5	66,180,080 (GRCm39)	missense	probably benign	0.05
R4280:Rbm47	UTSW	5	66,183,520 (GRCm39)	missense	probably damaging	1.00
R4714:Rbm47	UTSW	5	66,182,395 (GRCm39)	missense	probably damaging	1.00
R4744:Rbm47	UTSW	5	66,184,036 (GRCm39)	missense	probably damaging	0.98
R4807:Rbm47	UTSW	5	66,176,647 (GRCm39)	missense	possibly damaging	0.71
R5453:Rbm47	UTSW	5	66,184,525 (GRCm39)	missense	probably benign	0.07
R6090:Rbm47	UTSW	5	66,183,626 (GRCm39)	missense	probably damaging	1.00
R6091:Rbm47	UTSW	5	66,183,626 (GRCm39)	missense	probably damaging	1.00
R6136:Rbm47	UTSW	5	66,183,626 (GRCm39)	missense	probably damaging	1.00
R6137:Rbm47	UTSW	5	66,183,626 (GRCm39)	missense	probably damaging	1.00
R6159:Rbm47	UTSW	5	66,184,159 (GRCm39)	missense	probably damaging	0.99
R6181:Rbm47	UTSW	5	66,183,833 (GRCm39)	missense	possibly damaging	0.92
R6425:Rbm47	UTSW	5	66,180,159 (GRCm39)	missense	probably damaging	1.00
R7292:Rbm47	UTSW	5	66,184,093 (GRCm39)	missense	possibly damaging	0.86
R7332:Rbm47	UTSW	5	66,183,557 (GRCm39)	missense	probably damaging	1.00
R8114:Rbm47	UTSW	5	66,184,196 (GRCm39)	missense	probably benign	0.00
R8348:Rbm47	UTSW	5	66,184,573 (GRCm39)	missense	possibly damaging	0.60
R8448:Rbm47	UTSW	5	66,184,573 (GRCm39)	missense	possibly damaging	0.60
R8674:Rbm47	UTSW	5	66,176,742 (GRCm39)	missense	possibly damaging	0.63
R9339:Rbm47	UTSW	5	66,183,826 (GRCm39)	missense	possibly damaging	0.93
R9580:Rbm47	UTSW	5	66,183,877 (GRCm39)	missense	possibly damaging	0.94
R9686:Rbm47	UTSW	5	66,179,969 (GRCm39)	critical splice donor site	probably null
Z1176:Rbm47	UTSW	5	66,184,322 (GRCm39)	missense	probably benign	0.30
Z1176:Rbm47	UTSW	5	66,180,015 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACTTCTAAGCAGGATCCCTCC -3'
(R):5'- TCAACGTGATTGTGTATGCCAG -3'

Sequencing Primer
(F):5'- AGGATCCCTCCAGCTCTGTG -3'
(R):5'- TGAAAAACCGAGGCTTCGC -3'

Posted On

2019-09-13