Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03166

Quality Score

Status

Chromosome

Chromosomal Location

127673922-127697799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127697606 bp (GRCm39)

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]

AlphaFold

Q8C5L7

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
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Ankfn1	G	T	11: 89,429,264 (GRCm39)	A40D	probably benign	Het
Arhgap20	T	A	9: 51,761,077 (GRCm39)	I940K	possibly damaging	Het
Arhgap24	T	C	5: 103,023,552 (GRCm39)		probably benign	Het
Bdp1	T	C	13: 100,172,308 (GRCm39)	T2103A	probably benign	Het
Cep350	A	G	1: 155,739,346 (GRCm39)	S2166P	possibly damaging	Het
Dlg2	T	C	7: 91,549,938 (GRCm39)		probably benign	Het
Fhip2b	A	T	14: 70,827,616 (GRCm39)	C160S	probably damaging	Het
Fyco1	A	T	9: 123,657,452 (GRCm39)	L908H	probably benign	Het
Gprc5b	C	A	7: 118,583,222 (GRCm39)	A216S	probably benign	Het
Lamc1	A	G	1: 153,208,047 (GRCm39)	V80A	probably benign	Het
Lilra6	T	C	7: 3,915,626 (GRCm39)	I370V	possibly damaging	Het
Lim2	T	A	7: 43,080,047 (GRCm39)	C11*	probably null	Het
Lrp1b	T	A	2: 41,001,050 (GRCm39)	H2058L	probably damaging	Het
Lrp3	G	T	7: 34,901,905 (GRCm39)	L659I	probably benign	Het
Lrrc8a	T	G	2: 30,145,377 (GRCm39)	S64A	probably benign	Het
Lsr	C	T	7: 30,661,522 (GRCm39)		probably null	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Man2c1	T	A	9: 57,046,382 (GRCm39)	V479E	probably damaging	Het
Mtf2	T	A	5: 108,254,586 (GRCm39)	D462E	probably benign	Het
Mx2	T	C	16: 97,347,990 (GRCm39)	I205T	probably damaging	Het
Nos1	T	A	5: 118,052,517 (GRCm39)		probably benign	Het
Optc	C	T	1: 133,831,530 (GRCm39)		probably benign	Het
Or51e2	T	C	7: 102,391,254 (GRCm39)	N319D	probably benign	Het
Orm1	C	A	4: 63,262,831 (GRCm39)		probably benign	Het
Pdzd8	T	C	19: 59,288,940 (GRCm39)	E820G	probably damaging	Het
Pkp1	A	T	1: 135,805,862 (GRCm39)	M612K	probably damaging	Het
Pno1	T	A	11: 17,154,513 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,471,457 (GRCm39)	Y4564*	probably null	Het
Slc34a3	T	C	2: 25,122,186 (GRCm39)	I140V	probably damaging	Het
Slc43a1	T	C	2: 84,687,700 (GRCm39)	I419T	possibly damaging	Het
Sltm	C	A	9: 70,450,251 (GRCm39)	A17E	possibly damaging	Het
Smpdl3b	T	C	4: 132,468,842 (GRCm39)	D125G	probably benign	Het
Snorc	A	C	1: 87,402,933 (GRCm39)		probably benign	Het
Supt3	G	T	17: 45,234,106 (GRCm39)	A48S	probably damaging	Het
Tlr3	A	G	8: 45,855,965 (GRCm39)	F72L	probably benign	Het
Trim36	T	C	18: 46,345,388 (GRCm39)	E15G	probably benign	Het
Tubb4b-ps1	A	T	5: 7,229,965 (GRCm39)		probably benign	Het
Vmn2r68	T	C	7: 84,871,331 (GRCm39)	T651A	probably benign	Het
Wdr76	G	T	2: 121,364,787 (GRCm39)	V462F	possibly damaging	Het
Wnk2	C	A	13: 49,224,520 (GRCm39)	G1112*	probably null	Het
Zfp868	A	C	8: 70,064,965 (GRCm39)	C123W	probably damaging	Het
Zyg11b	T	A	4: 108,123,086 (GRCm39)	M294L	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
IGL02505:Rbm34	APN	8	127,676,071 (GRCm39)	missense	probably benign	0.08
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

2016-08-02