Mutagenetix > Incidental Mutation

Incidental Mutation 'R5605:Rbm34'

439250

Institutional Source

Beutler Lab

Gene Symbol

Rbm34

Ensembl Gene

ENSMUSG00000033931

Gene Name

RNA binding motif protein 34

Synonyms

4930547K05Rik, D8Ertd233e

MMRRC Submission

043270-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127673922-127697799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127676169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 382 (K382R)

Ref Sequence

ENSEMBL: ENSMUSP00000048450 (fasta)

Gene Model

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

AlphaFold

Q8C5L7

Predicted Effect

probably benign
Transcript: ENSMUST00000045994
AA Change: K382R

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048450
Gene: ENSMUSG00000033931
AA Change: K382R

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: K362R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000212771

Meta Mutation Damage Score

0.0747

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	A	18: 67,575,425 (GRCm39)	G83*	probably null	Het
Arap2	A	T	5: 62,772,410 (GRCm39)	M1476K	possibly damaging	Het
Catsper2	G	A	2: 121,227,533 (GRCm39)	R546C	possibly damaging	Het
Ceacam5	T	C	7: 17,481,161 (GRCm39)	F303L	probably benign	Het
Clvs1	A	G	4: 9,281,751 (GRCm39)	D65G	probably damaging	Het
Coq5	T	C	5: 115,421,776 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,168,699 (GRCm39)	V950E	probably damaging	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dnah7c	A	G	1: 46,837,395 (GRCm39)	D3936G	possibly damaging	Het
Doc2b	T	C	11: 75,662,786 (GRCm39)	E404G	probably damaging	Het
Dsg1b	C	T	18: 20,532,596 (GRCm39)	P547S	probably benign	Het
Eif1ad17	T	A	12: 87,978,768 (GRCm39)	C51S	probably damaging	Het
Erich6	A	G	3: 58,532,540 (GRCm39)	Y356H	probably damaging	Het
Galnt6	C	T	15: 100,595,106 (GRCm39)	R465Q	probably damaging	Het
Gbp5	T	C	3: 142,207,037 (GRCm39)	S69P	probably damaging	Het
Gdpd4	T	C	7: 97,655,507 (GRCm39)	V562A	probably benign	Het
Greb1	A	T	12: 16,758,727 (GRCm39)	V663D	probably damaging	Het
Gtf3c3	A	T	1: 54,455,085 (GRCm39)	S593T	probably benign	Het
H2-Eb1	T	C	17: 34,528,807 (GRCm39)	S113P	probably benign	Het
Herc3	C	T	6: 58,834,712 (GRCm39)	R240C	probably damaging	Het
Iqub	T	C	6: 24,505,620 (GRCm39)	D96G	probably benign	Het
Irag1	C	T	7: 110,545,209 (GRCm39)	C29Y	possibly damaging	Het
Kcnt2	A	T	1: 140,502,481 (GRCm39)	E858D	possibly damaging	Het
Lcor	T	A	19: 41,571,302 (GRCm39)	I165N	probably damaging	Het
Lrp2	C	T	2: 69,353,643 (GRCm39)	R539K	probably damaging	Het
Lrrc10	C	A	10: 116,881,805 (GRCm39)	P160T	probably damaging	Het
Map3k12	G	T	15: 102,412,300 (GRCm39)	D280E	probably benign	Het
Mcub	T	C	3: 129,710,658 (GRCm39)	E258G	probably damaging	Het
Mdn1	T	C	4: 32,765,664 (GRCm39)	S5208P	probably benign	Het
Med20	C	A	17: 47,934,069 (GRCm39)		probably benign	Het
Mertk	T	C	2: 128,580,227 (GRCm39)	V227A	probably benign	Het
Ncstn	A	G	1: 171,908,717 (GRCm39)		probably benign	Het
Nedd4l	T	C	18: 65,307,315 (GRCm39)		probably null	Het
Nfyc	A	G	4: 120,647,686 (GRCm39)		probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nt5dc1	C	T	10: 34,279,691 (GRCm39)	C117Y	probably benign	Het
Nup88	A	T	11: 70,834,896 (GRCm39)		probably benign	Het
Or6z7	C	T	7: 6,483,325 (GRCm39)	V277M	probably benign	Het
Pbrm1	T	A	14: 30,757,949 (GRCm39)	I193K	probably benign	Het
Pcsk2	T	C	2: 143,591,165 (GRCm39)		probably benign	Het
Pdzd2	A	T	15: 12,592,436 (GRCm39)	C69*	probably null	Het
Polr1e	A	G	4: 45,018,723 (GRCm39)	T18A	probably benign	Het
Prima1	T	A	12: 103,166,163 (GRCm39)	I124F	probably benign	Het
Rftn1	T	G	17: 50,354,435 (GRCm39)	N309T	probably damaging	Het
Septin1	C	T	7: 126,814,598 (GRCm39)	D260N	probably damaging	Het
Serpina3g	T	C	12: 104,207,299 (GRCm39)	V154A	probably damaging	Het
Spef2	A	T	15: 9,609,606 (GRCm39)	N1306K	probably damaging	Het
Stk4	T	C	2: 163,921,486 (GRCm39)	F29S	probably damaging	Het
Stxbp5	A	G	10: 9,645,490 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,919,733 (GRCm39)	T774A	probably benign	Het
Tinag	A	G	9: 76,952,694 (GRCm39)	Y97H	probably damaging	Het
Tpm1	T	C	9: 66,956,317 (GRCm39)	E33G	probably damaging	Het
Usp17lb	T	C	7: 104,489,847 (GRCm39)	E359G	probably benign	Het
Vmn2r91	A	G	17: 18,356,763 (GRCm39)	E810G	probably damaging	Het
Vwce	A	T	19: 10,635,402 (GRCm39)	T633S	possibly damaging	Het
Ylpm1	G	A	12: 85,075,627 (GRCm39)	R326H	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCAACCTCAGTTATTACTGC -3'
(R):5'- AGACCACTGAATTCTGACCTAC -3'

Sequencing Primer
(F):5'- ATTACTGCTGTTTTCTTGGTTTCTTC -3'
(R):5'- GACCACTGAATTCTGACCTACTAGTC -3'

Posted On

2016-10-26