Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03166:Rbm34'

411650

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03166

Quality Score

Status

Chromosome

Chromosomal Location

126947172-126971071 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126970856 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 35 (Q35R)

Ref Sequence

ENSEMBL: ENSMUSP00000148473 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000045994
AA Change: Q35R

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

SMART Domains

Protein: ENSMUSP00000048450
Gene: ENSMUSG00000033931
AA Change: Q35R

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: ENSMUST00000212583

Predicted Effect

probably damaging
Transcript: ENSMUST00000212618
AA Change: Q35R

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110079O15Rik	A	C	1: 87,475,211		probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Ankfn1	G	T	11: 89,538,438	A40D	probably benign	Het
Arhgap20	T	A	9: 51,849,777	I940K	possibly damaging	Het
Arhgap24	T	C	5: 102,875,686		probably benign	Het
Bdp1	T	C	13: 100,035,800	T2103A	probably benign	Het
Cep350	A	G	1: 155,863,600	S2166P	possibly damaging	Het
Dlg2	T	C	7: 91,900,730		probably benign	Het
Fam160b2	A	T	14: 70,590,176	C160S	probably damaging	Het
Fyco1	A	T	9: 123,828,387	L908H	probably benign	Het
Gprc5b	C	A	7: 118,983,999	A216S	probably benign	Het
Lamc1	A	G	1: 153,332,301	V80A	probably benign	Het
Lilra6	T	C	7: 3,912,627	I370V	possibly damaging	Het
Lim2	T	A	7: 43,430,623	C11*	probably null	Het
Lrp1b	T	A	2: 41,111,038	H2058L	probably damaging	Het
Lrp3	G	T	7: 35,202,480	L659I	probably benign	Het
Lrrc8a	T	G	2: 30,255,365	S64A	probably benign	Het
Lsr	C	T	7: 30,962,097		probably null	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Man2c1	T	A	9: 57,139,098	V479E	probably damaging	Het
Mtf2	T	A	5: 108,106,720	D462E	probably benign	Het
Mx2	T	C	16: 97,546,790	I205T	probably damaging	Het
Nos1	T	A	5: 117,914,452		probably benign	Het
Olfr78	T	C	7: 102,742,047	N319D	probably benign	Het
Optc	C	T	1: 133,903,792		probably benign	Het
Orm1	C	A	4: 63,344,594		probably benign	Het
Pdzd8	T	C	19: 59,300,508	E820G	probably damaging	Het
Pkp1	A	T	1: 135,878,124	M612K	probably damaging	Het
Pno1	T	A	11: 17,204,513		probably null	Het
Ryr3	A	T	2: 112,641,112	Y4564*	probably null	Het
Slc34a3	T	C	2: 25,232,174	I140V	probably damaging	Het
Slc43a1	T	C	2: 84,857,356	I419T	possibly damaging	Het
Sltm	C	A	9: 70,542,969	A17E	possibly damaging	Het
Smpdl3b	T	C	4: 132,741,531	D125G	probably benign	Het
Supt3	G	T	17: 44,923,219	A48S	probably damaging	Het
Tlr3	A	G	8: 45,402,928	F72L	probably benign	Het
Trim36	T	C	18: 46,212,321	E15G	probably benign	Het
Tubb4b-ps1	A	T	5: 7,179,965		probably benign	Het
Vmn2r68	T	C	7: 85,222,123	T651A	probably benign	Het
Wdr76	G	T	2: 121,534,306	V462F	possibly damaging	Het
Wnk2	C	A	13: 49,071,044	G1112*	probably null	Het
Zfp868	A	C	8: 69,612,314	C123W	probably damaging	Het
Zyg11b	T	A	4: 108,265,889	M294L	probably benign	Het

Other mutations in Rbm34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Rbm34	APN	8	126969986	missense	probably benign	0.10
IGL02505:Rbm34	APN	8	126949321	missense	probably benign	0.08
R0081:Rbm34	UTSW	8	126949484	missense	probably damaging	0.99
R1186:Rbm34	UTSW	8	126965447	nonsense	probably null
R1257:Rbm34	UTSW	8	126970893	missense	possibly damaging	0.45
R1867:Rbm34	UTSW	8	126970881	missense	probably benign	0.17
R1868:Rbm34	UTSW	8	126970881	missense	probably benign	0.17
R4008:Rbm34	UTSW	8	126949287	missense	probably benign	0.00
R4395:Rbm34	UTSW	8	126949381	missense	probably benign	0.03
R4823:Rbm34	UTSW	8	126970905	missense	probably benign	0.01
R4903:Rbm34	UTSW	8	126951337	missense	possibly damaging	0.71
R4964:Rbm34	UTSW	8	126951337	missense	possibly damaging	0.71
R4966:Rbm34	UTSW	8	126951337	missense	possibly damaging	0.71
R5605:Rbm34	UTSW	8	126949419	missense	probably benign	0.05
R5734:Rbm34	UTSW	8	126970130	critical splice acceptor site	probably null
R6515:Rbm34	UTSW	8	126961932	missense	possibly damaging	0.48

Posted On

2016-08-02