Mutagenetix > Incidental Mutation

Incidental Mutation 'R8544:Rbm34'

659534

Institutional Source

Beutler Lab

Gene Symbol

Rbm34

Ensembl Gene

ENSMUSG00000033931

Gene Name

RNA binding motif protein 34

Synonyms

4930547K05Rik, D8Ertd233e

MMRRC Submission

068509-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8544 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127673922-127697799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127696821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 94 (S94P)

Ref Sequence

ENSEMBL: ENSMUSP00000048450 (fasta)

Gene Model

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

AlphaFold

Q8C5L7

Predicted Effect

probably benign
Transcript: ENSMUST00000045994
AA Change: S94P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000048450
Gene: ENSMUSG00000033931
AA Change: S94P

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

probably benign
Transcript: ENSMUST00000212618
AA Change: S94P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (74/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	A	15: 37,425,979 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,832,461 (GRCm39)	L1171H	probably damaging	Het
Ace	A	T	11: 105,862,116 (GRCm39)		probably null	Het
Adsl	G	T	15: 80,832,734 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,585,890 (GRCm39)	M215T	probably benign	Het
Cabp2	A	T	19: 4,134,892 (GRCm39)	R77S	probably damaging	Het
Cast	A	T	13: 74,882,177 (GRCm39)	H40Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,358 (GRCm39)	Y946N	unknown	Het
Ccdc9b	C	T	2: 118,587,702 (GRCm39)	R544K	unknown	Het
Chst14	A	G	2: 118,758,010 (GRCm39)	Y268C	probably damaging	Het
Dennd1a	T	C	2: 37,872,920 (GRCm39)		probably null	Het
Dnah1	A	G	14: 30,990,861 (GRCm39)	Y3153H	probably damaging	Het
Entpd8	T	C	2: 24,973,856 (GRCm39)	V271A	probably benign	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fam234b	A	G	6: 135,210,287 (GRCm39)	Y561C	probably damaging	Het
Flg	A	G	3: 93,195,448 (GRCm39)		probably benign	Het
Galnt5	T	A	2: 57,907,160 (GRCm39)	M541K	probably damaging	Het
Gjd3	C	A	11: 98,873,488 (GRCm39)	E119*	probably null	Het
Gm266	T	C	12: 111,451,799 (GRCm39)	T136A	possibly damaging	Het
Gng11	G	A	6: 4,008,045 (GRCm39)	C36Y	possibly damaging	Het
Gse1	G	A	8: 121,280,391 (GRCm39)	V36I	probably damaging	Het
Hycc2	T	C	1: 58,568,981 (GRCm39)	T477A	probably benign	Het
Invs	A	T	4: 48,397,598 (GRCm39)	H335L	probably damaging	Het
Kcnc2	A	T	10: 112,292,101 (GRCm39)	I28F	probably damaging	Het
Klhl40	C	T	9: 121,607,892 (GRCm39)	H351Y	probably damaging	Het
Kremen2	A	G	17: 23,961,201 (GRCm39)	L382P	probably benign	Het
Lenep	A	T	3: 89,309,784 (GRCm39)	C55S	possibly damaging	Het
Lrp12	A	T	15: 39,741,970 (GRCm39)	Y248*	probably null	Het
Man2c1	A	G	9: 57,038,325 (GRCm39)		probably null	Het
Map2k2	T	C	10: 80,955,376 (GRCm39)	M32T	possibly damaging	Het
Mnt	A	G	11: 74,722,218 (GRCm39)	R22G	probably damaging	Het
Mroh1	G	T	15: 76,327,558 (GRCm39)	E1127*	probably null	Het
Mtmr4	A	G	11: 87,502,735 (GRCm39)	R930G	possibly damaging	Het
Nalcn	A	G	14: 123,608,935 (GRCm39)	V644A	probably benign	Het
Ngf	G	T	3: 102,427,991 (GRCm39)	V247F	probably damaging	Het
Ninj2	A	G	6: 120,175,018 (GRCm39)	Y63C	probably damaging	Het
Or4c121	T	C	2: 89,024,312 (GRCm39)	E22G	possibly damaging	Het
Or51g2	A	T	7: 102,622,938 (GRCm39)	I87N	probably damaging	Het
Phf12	A	C	11: 77,918,235 (GRCm39)	I816L	probably damaging	Het
Pkhd1	C	A	1: 20,593,199 (GRCm39)	G1638V	probably damaging	Het
Plce1	T	A	19: 38,512,903 (GRCm39)	S67R	probably benign	Het
Plekhf1	A	G	7: 37,920,768 (GRCm39)	F267L	probably damaging	Het
Poc1b	A	T	10: 98,960,770 (GRCm39)	K60*	probably null	Het
Ppic	G	A	18: 53,544,612 (GRCm39)	T66M	probably damaging	Het
Prep	G	T	10: 45,029,223 (GRCm39)	G541V	probably damaging	Het
Rasal3	C	T	17: 32,611,093 (GRCm39)	V947I	probably benign	Het
Rbl1	T	C	2: 157,035,124 (GRCm39)	R319G	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Sacm1l	T	C	9: 123,406,123 (GRCm39)		probably null	Het
Scaf8	T	C	17: 3,213,295 (GRCm39)		probably benign	Het
Scrn1	T	A	6: 54,499,841 (GRCm39)	T215S	probably benign	Het
Sfrp4	A	G	13: 19,816,336 (GRCm39)		probably null	Het
Slc37a3	T	C	6: 39,321,297 (GRCm39)	I406V	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sptbn1	C	A	11: 30,169,750 (GRCm39)		probably benign	Het
St8sia5	T	C	18: 77,342,114 (GRCm39)	Y275H	probably damaging	Het
Stab1	A	T	14: 30,885,008 (GRCm39)	C137*	probably null	Het
Svep1	A	G	4: 58,206,025 (GRCm39)	S118P	probably benign	Het
Tbx6	A	G	7: 126,380,656 (GRCm39)		probably null	Het
Tril	C	T	6: 53,796,295 (GRCm39)	S309N	possibly damaging	Het
Trmt13	A	G	3: 116,386,094 (GRCm39)		probably null	Het
Trpm1	T	A	7: 63,874,356 (GRCm39)		probably null	Het
Tyr	T	C	7: 87,142,000 (GRCm39)	T110A	probably benign	Het
Upf1	A	C	8: 70,789,702 (GRCm39)	F711C	probably damaging	Het
Usp5	A	T	6: 124,800,480 (GRCm39)	V267D	probably damaging	Het
Virma	C	A	4: 11,516,949 (GRCm39)	D714E	probably benign	Het
Vmn2r115	A	C	17: 23,564,773 (GRCm39)	Q220P	possibly damaging	Het
Vmn2r40	T	C	7: 8,911,191 (GRCm39)	I701V		Het
Vwde	T	A	6: 13,187,652 (GRCm39)	M612L	probably benign	Het
Wwox	A	G	8: 115,215,646 (GRCm39)	T140A	probably benign	Het
Zbtb17	CCCCCACCTCCACAGACCCCA	CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA	4: 141,194,139 (GRCm39)		probably benign	Het
Zbtb9	T	A	17: 27,193,448 (GRCm39)	C284*	probably null	Het
Zdhhc12	C	A	2: 29,983,486 (GRCm39)	A39S	probably benign	Het
Zfp532	T	A	18: 65,758,227 (GRCm39)	I720K	possibly damaging	Het
Zfp595	G	A	13: 67,465,244 (GRCm39)	R340C	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
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
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'- CGCTTAGGATAAATGGCTTTCTTG -3'
(R):5'- ACATCGGAGTACTGCTCAGG -3'

Sequencing Primer
(F):5'- TCTTTTAACCCTGTATGAGACTTTG -3'
(R):5'- TGACTTCAAACTTTTGAAAGG -3'

Posted On

2021-01-18