Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Rbm34'

296293

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm34

Ensembl Gene

ENSMUSG00000033931

Gene Name

RNA binding motif protein 34

Synonyms

4930547K05Rik, D8Ertd233e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

127673922-127697799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127676071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 395 (I395V)

Ref Sequence

ENSEMBL: ENSMUSP00000148473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045994] [ENSMUST00000179857] [ENSMUST00000212618] [ENSMUST00000212771]

AlphaFold

Q8C5L7

Predicted Effect

probably benign
Transcript: ENSMUST00000045994
AA Change: I415V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000048450
Gene: ENSMUSG00000033931
AA Change: I415V

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	41	53	N/A	INTRINSIC
low complexity region	83	91	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
low complexity region	140	152	N/A	INTRINSIC
RRM	190	280	5.33e-10	SMART
RRM	292	364	5.2e-22	SMART
internal_repeat_2	394	404	6.88e-5	PROSPERO
internal_repeat_2	401	411	6.88e-5	PROSPERO
low complexity region	423	442	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083703

Predicted Effect

probably benign
Transcript: ENSMUST00000179857

SMART Domains

Protein: ENSMUSP00000136493
Gene: ENSMUSG00000093904

Domain	Start	End	E-Value	Type
Pfam:MAS20	10	124	3.8e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212618
AA Change: I395V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000212771

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA-binding motif family of RNA recognition motif proteins. The encoded protein contains an RNA-binding domain made up of two RNA recognition motif subdomains referred to as RNA recognition motif-1 and RNA recognition motif-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,524,096 (GRCm39)	L68M	probably damaging	Het
Abca13	T	G	11: 9,531,498 (GRCm39)	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,076,105 (GRCm39)	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,395,166 (GRCm39)	A252E	probably damaging	Het
Ap1b1	C	T	11: 4,981,700 (GRCm39)	A536V	probably benign	Het
Arhgef3	A	G	14: 27,115,957 (GRCm39)	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,238,320 (GRCm39)	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,062,642 (GRCm39)	V622M	probably damaging	Het
Aup1	A	G	6: 83,032,258 (GRCm39)	T142A	probably benign	Het
Bcl6	A	T	16: 23,796,319 (GRCm39)	I36N	probably damaging	Het
Best1	A	G	19: 9,966,514 (GRCm39)	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759 (GRCm38)	Q1150P	probably damaging	Het
Capn5	T	A	7: 97,780,403 (GRCm39)	E322D	possibly damaging	Het
Cd300ld2	A	T	11: 114,904,513 (GRCm39)	M118K	probably benign	Het
Cdh9	T	C	15: 16,856,075 (GRCm39)	L705P	probably damaging	Het
Cep170b	T	G	12: 112,709,504 (GRCm39)	N436K	probably damaging	Het
Chil6	T	A	3: 106,313,278 (GRCm39)	I24F	probably benign	Het
Chmp2a	T	A	7: 12,767,782 (GRCm39)	K48*	probably null	Het
Col19a1	C	T	1: 24,339,665 (GRCm39)		probably benign	Het
Cops7b	C	A	1: 86,520,043 (GRCm39)	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,349,069 (GRCm39)	L133H	probably damaging	Het
Dkc1	T	C	X: 74,152,339 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,900,767 (GRCm39)	Y134H	probably damaging	Het
F8	C	A	X: 74,423,204 (GRCm39)		probably benign	Het
Fus	G	A	7: 127,580,679 (GRCm39)	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gm15821	T	C	17: 34,433,259 (GRCm39)		probably benign	Het
Gm5117	C	A	8: 32,228,344 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,152 (GRCm39)	I45V	probably benign	Het
Hectd1	A	G	12: 51,847,496 (GRCm39)		probably null	Het
Ifi204	T	C	1: 173,583,220 (GRCm39)	K333E	probably benign	Het
Ildr1	G	A	16: 36,536,526 (GRCm39)	G185D	probably damaging	Het
Itgb2	G	A	10: 77,383,052 (GRCm39)	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,214,331 (GRCm39)	D226Y	probably damaging	Het
Krt77	A	G	15: 101,769,381 (GRCm39)	L460P	probably damaging	Het
Lamp3	A	G	16: 19,474,207 (GRCm39)	I389T	possibly damaging	Het
Macroh2a1	A	G	13: 56,222,143 (GRCm39)	V336A	probably damaging	Het
Mars1	C	A	10: 127,140,113 (GRCm39)	E414*	probably null	Het
Mpg	T	C	11: 32,180,042 (GRCm39)	V190A	probably damaging	Het
Myh15	A	G	16: 48,937,626 (GRCm39)	I742M	possibly damaging	Het
Nell2	A	T	15: 95,194,144 (GRCm39)		probably benign	Het
Nmur1	T	C	1: 86,314,057 (GRCm39)	D370G	probably benign	Het
Npsr1	A	G	9: 24,009,578 (GRCm39)	E28G	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or56a3	A	T	7: 104,735,540 (GRCm39)	I206L	probably benign	Het
Or7a42	G	T	10: 78,791,767 (GRCm39)	V243F	probably benign	Het
Or8b12c	G	A	9: 37,715,627 (GRCm39)	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,128,899 (GRCm39)	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 110,359,848 (GRCm39)	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,907,139 (GRCm39)	K685N	probably damaging	Het
Prim1	T	A	10: 127,865,652 (GRCm39)	*419R	probably null	Het
Ptk2b	G	T	14: 66,391,692 (GRCm39)	N905K	probably damaging	Het
Rfx1	A	G	8: 84,822,438 (GRCm39)	E912G	possibly damaging	Het
Rngtt	T	C	4: 33,337,936 (GRCm39)	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,594,002 (GRCm39)	Y169H	possibly damaging	Het
Slc49a4	G	T	16: 35,555,928 (GRCm39)	D177E	probably benign	Het
Susd4	C	A	1: 182,719,645 (GRCm39)	T420K	probably benign	Het
Tdrd3	G	A	14: 87,749,118 (GRCm39)	G676D	probably damaging	Het
Tec	T	C	5: 72,946,587 (GRCm39)	K47E	probably damaging	Het
Tenm2	C	A	11: 35,942,743 (GRCm39)	G1308*	probably null	Het
Tmprss15	A	T	16: 78,784,629 (GRCm39)	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,096,346 (GRCm39)	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,710,378 (GRCm39)	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,261,449 (GRCm39)	T296K	probably damaging	Het
Wdr3	C	T	3: 100,059,290 (GRCm39)	S343N	probably benign	Het
Yju2	G	T	17: 56,269,051 (GRCm39)	G53V	probably damaging	Het
Zfp143	A	T	7: 109,690,993 (GRCm39)	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,580,626 (GRCm39)	I42V	probably benign	Het
Zswim5	A	T	4: 116,819,749 (GRCm39)	M385L	probably benign	Het

Other mutations in Rbm34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Rbm34	APN	8	127,696,736 (GRCm39)	missense	probably benign	0.10
IGL03166:Rbm34	APN	8	127,697,606 (GRCm39)	missense	probably damaging	1.00
R0081:Rbm34	UTSW	8	127,676,234 (GRCm39)	missense	probably damaging	0.99
R1186:Rbm34	UTSW	8	127,692,197 (GRCm39)	nonsense	probably null
R1257:Rbm34	UTSW	8	127,697,643 (GRCm39)	missense	possibly damaging	0.45
R1867:Rbm34	UTSW	8	127,697,631 (GRCm39)	missense	probably benign	0.17
R1868:Rbm34	UTSW	8	127,697,631 (GRCm39)	missense	probably benign	0.17
R4008:Rbm34	UTSW	8	127,676,037 (GRCm39)	missense	probably benign	0.00
R4395:Rbm34	UTSW	8	127,676,131 (GRCm39)	missense	probably benign	0.03
R4823:Rbm34	UTSW	8	127,697,655 (GRCm39)	missense	probably benign	0.01
R4903:Rbm34	UTSW	8	127,678,087 (GRCm39)	missense	possibly damaging	0.71
R4964:Rbm34	UTSW	8	127,678,087 (GRCm39)	missense	possibly damaging	0.71
R4966:Rbm34	UTSW	8	127,678,087 (GRCm39)	missense	possibly damaging	0.71
R5605:Rbm34	UTSW	8	127,676,169 (GRCm39)	missense	probably benign	0.05
R5734:Rbm34	UTSW	8	127,696,880 (GRCm39)	critical splice acceptor site	probably null
R6515:Rbm34	UTSW	8	127,688,682 (GRCm39)	missense	possibly damaging	0.48
R8263:Rbm34	UTSW	8	127,692,139 (GRCm39)	missense	probably benign	0.03
R8544:Rbm34	UTSW	8	127,696,821 (GRCm39)	missense	probably benign	0.00
R8915:Rbm34	UTSW	8	127,679,908 (GRCm39)	splice site	probably benign
R8957:Rbm34	UTSW	8	127,692,208 (GRCm39)	missense	probably benign	0.00
R9005:Rbm34	UTSW	8	127,686,332 (GRCm39)	missense	possibly damaging	0.65
R9131:Rbm34	UTSW	8	127,679,928 (GRCm39)	missense	probably damaging	0.97
R9635:Rbm34	UTSW	8	127,696,872 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16