Mutagenetix > Incidental Mutation

Incidental Mutation 'R3917:Rbm28'

307338

Institutional Source

Beutler Lab

Gene Symbol

Rbm28

Ensembl Gene

ENSMUSG00000029701

Gene Name

RNA binding motif protein 28

Synonyms

2810480G15Rik

MMRRC Submission

040914-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R3917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29123572-29164975 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29154788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 294 (D294G)

Ref Sequence

ENSEMBL: ENSMUSP00000007993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007993]

AlphaFold

Q8CGC6

PDB Structure

Solution structure of RRM domain in RNA-binding protein 28 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000007993
AA Change: D294G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000007993
Gene: ENSMUSG00000029701
AA Change: D294G

Domain	Start	End	E-Value	Type
RRM	5	76	3.51e-19	SMART
low complexity region	99	114	N/A	INTRINSIC
RRM	115	187	4.52e-22	SMART
low complexity region	225	248	N/A	INTRINSIC
low complexity region	267	291	N/A	INTRINSIC
low complexity region	294	306	N/A	INTRINSIC
RRM	326	405	1.85e-18	SMART
RRM	478	566	5.46e-7	SMART
low complexity region	707	720	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170750

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178237

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,737,277 (GRCm39)	V498A	probably damaging	Het
Adam19	A	G	11: 45,951,762 (GRCm39)	E37G	probably benign	Het
Apol11b	A	G	15: 77,519,504 (GRCm39)	I192T	probably benign	Het
Appl1	A	T	14: 26,650,561 (GRCm39)	F537Y	probably damaging	Het
Atad5	A	C	11: 79,994,120 (GRCm39)	K785N	probably null	Het
Atp1b2	A	G	11: 69,493,901 (GRCm39)	V93A	probably damaging	Het
Bcam	T	C	7: 19,499,375 (GRCm39)	Y216C	probably damaging	Het
Brca2	A	G	5: 150,464,292 (GRCm39)	E1352G	probably damaging	Het
C030005K15Rik	A	C	10: 97,561,453 (GRCm39)	S93A	unknown	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Ccdc88c	A	G	12: 100,907,366 (GRCm39)		probably null	Het
Ccdc89	A	G	7: 90,076,033 (GRCm39)	D81G	probably damaging	Het
Ccnt1	A	G	15: 98,441,940 (GRCm39)	S443P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc42bpa	T	C	1: 179,933,719 (GRCm39)		probably null	Het
Cdk11b	T	C	4: 155,711,258 (GRCm39)	S47P	probably damaging	Het
Cfap43	T	C	19: 47,886,189 (GRCm39)	D142G	probably benign	Het
Cntnap4	C	G	8: 113,602,165 (GRCm39)	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,384,362 (GRCm39)	Y567*	probably null	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock7	T	C	4: 98,904,922 (GRCm39)	Y651C	probably damaging	Het
Fzd3	A	T	14: 65,473,379 (GRCm39)	F130I	probably damaging	Het
Gabarapl2	T	A	8: 112,679,028 (GRCm39)	F115L	probably benign	Het
Gm1043	G	A	5: 37,350,285 (GRCm39)		probably benign	Het
Gm12185	A	G	11: 48,806,760 (GRCm39)	F144L	probably benign	Het
Gm21961	A	T	15: 64,886,733 (GRCm39)	D7E	unknown	Het
Gtf3a	A	G	5: 146,892,244 (GRCm39)	K332E	probably benign	Het
Haao	A	G	17: 84,146,228 (GRCm39)		probably null	Het
Habp2	T	A	19: 56,299,611 (GRCm39)	C170S	probably damaging	Het
Heatr3	T	G	8: 88,876,999 (GRCm39)		probably null	Het
Herc1	T	G	9: 66,341,748 (GRCm39)	C1846G	possibly damaging	Het
Hivep3	T	C	4: 119,956,624 (GRCm39)	S1647P	probably benign	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hspg2	A	G	4: 137,286,625 (GRCm39)	E3648G	probably damaging	Het
Jaml	T	C	9: 45,012,449 (GRCm39)		probably benign	Het
Jund	C	T	8: 71,151,673 (GRCm39)		probably benign	Het
Klra14-ps	T	C	6: 130,134,595 (GRCm39)		noncoding transcript	Het
Krt88	G	A	15: 101,350,809 (GRCm39)		probably null	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Lyzl4	T	A	9: 121,412,101 (GRCm39)	D105V	probably damaging	Het
Mst1	A	G	9: 107,961,494 (GRCm39)	I575V	probably benign	Het
Myd88	T	C	9: 119,170,464 (GRCm39)		probably benign	Het
Myo1d	A	T	11: 80,557,404 (GRCm39)	V512E	probably damaging	Het
Ndufv1	A	G	19: 4,060,002 (GRCm39)	Y33H	probably damaging	Het
Nwd1	T	A	8: 73,394,439 (GRCm39)	C608*	probably null	Het
Or10al2	T	A	17: 37,983,684 (GRCm39)	F257I	probably damaging	Het
Or8b37	A	T	9: 37,958,841 (GRCm39)	I108F	probably damaging	Het
Patj	A	T	4: 98,480,245 (GRCm39)	K1317*	probably null	Het
Pld5	A	G	1: 175,791,504 (GRCm39)	S501P	probably benign	Het
Pnpo	A	G	11: 96,830,583 (GRCm39)	V146A	probably damaging	Het
Ppdpf	A	G	2: 180,829,521 (GRCm39)	Y16C	probably benign	Het
Ppp1r27	A	G	11: 120,441,785 (GRCm39)	V32A	possibly damaging	Het
Sdk1	T	A	5: 142,036,999 (GRCm39)	D817E	probably damaging	Het
Shank3	A	G	15: 89,387,587 (GRCm39)	D252G	possibly damaging	Het
Slc29a1	A	T	17: 45,899,899 (GRCm39)		probably null	Het
Slc35a5	G	C	16: 44,978,521 (GRCm39)		probably benign	Het
Slc6a5	T	C	7: 49,561,617 (GRCm39)	S50P	probably damaging	Het
Slfn8	A	T	11: 82,907,819 (GRCm39)	Y241*	probably null	Het
Slu7	G	T	11: 43,331,511 (GRCm39)		probably null	Het
Smad2	T	A	18: 76,421,008 (GRCm39)	D82E	probably benign	Het
Spx	A	C	6: 142,359,757 (GRCm39)	E33A	probably damaging	Het
Tdp1	A	G	12: 99,860,976 (GRCm39)	Y205C	probably damaging	Het
Tekt1	A	G	11: 72,236,574 (GRCm39)	I296T	possibly damaging	Het
Tgm1	G	A	14: 55,950,214 (GRCm39)		probably benign	Het
Tnks	A	G	8: 35,320,515 (GRCm39)	S719P	probably damaging	Het
Trip6	A	G	5: 137,311,941 (GRCm39)	C47R	probably benign	Het
Trpv3	A	G	11: 73,174,560 (GRCm39)	D309G	possibly damaging	Het
Tti2	A	G	8: 31,643,547 (GRCm39)	K221E	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r57	A	T	7: 5,223,630 (GRCm39)	N52Y	probably damaging	Het
Vmn2r94	A	G	17: 18,464,620 (GRCm39)	F557L	probably benign	Het
Zbed5	T	C	5: 129,931,118 (GRCm39)	Y356H	possibly damaging	Het
Zfp1005	T	A	2: 150,108,039 (GRCm39)		probably benign	Het
Zic4	C	A	9: 91,266,394 (GRCm39)		probably benign	Het

Other mutations in Rbm28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01929:Rbm28	APN	6	29,128,584 (GRCm39)	missense	possibly damaging	0.94
IGL02097:Rbm28	APN	6	29,138,617 (GRCm39)	missense	possibly damaging	0.82
IGL02814:Rbm28	APN	6	29,159,725 (GRCm39)	missense	probably benign	0.34
IGL03212:Rbm28	APN	6	29,131,274 (GRCm39)	missense	probably damaging	1.00
R0106:Rbm28	UTSW	6	29,127,802 (GRCm39)	missense	probably benign
R0106:Rbm28	UTSW	6	29,127,802 (GRCm39)	missense	probably benign
R0109:Rbm28	UTSW	6	29,160,104 (GRCm39)	missense	probably benign	0.16
R0376:Rbm28	UTSW	6	29,158,927 (GRCm39)	splice site	probably benign
R0654:Rbm28	UTSW	6	29,128,577 (GRCm39)	missense	probably damaging	1.00
R0884:Rbm28	UTSW	6	29,155,153 (GRCm39)	missense	possibly damaging	0.68
R1255:Rbm28	UTSW	6	29,158,246 (GRCm39)	missense	probably damaging	1.00
R1367:Rbm28	UTSW	6	29,137,639 (GRCm39)	missense	probably damaging	1.00
R1466:Rbm28	UTSW	6	29,155,016 (GRCm39)	splice site	probably benign
R2277:Rbm28	UTSW	6	29,135,513 (GRCm39)	splice site	probably null
R4033:Rbm28	UTSW	6	29,159,668 (GRCm39)	missense	probably damaging	0.99
R4421:Rbm28	UTSW	6	29,154,836 (GRCm39)	missense	probably damaging	1.00
R4728:Rbm28	UTSW	6	29,143,591 (GRCm39)	missense	probably damaging	1.00
R4740:Rbm28	UTSW	6	29,125,353 (GRCm39)	utr 3 prime	probably benign
R4952:Rbm28	UTSW	6	29,138,597 (GRCm39)	missense	probably damaging	1.00
R5378:Rbm28	UTSW	6	29,128,558 (GRCm39)	missense	probably damaging	0.99
R5652:Rbm28	UTSW	6	29,135,408 (GRCm39)	missense	probably damaging	1.00
R6578:Rbm28	UTSW	6	29,137,639 (GRCm39)	missense	probably damaging	1.00
R7351:Rbm28	UTSW	6	29,158,879 (GRCm39)	missense	probably benign
R7770:Rbm28	UTSW	6	29,164,627 (GRCm39)	unclassified	probably benign
R8817:Rbm28	UTSW	6	29,155,023 (GRCm39)	splice site	probably benign
R8861:Rbm28	UTSW	6	29,152,284 (GRCm39)	missense	probably damaging	1.00
R9339:Rbm28	UTSW	6	29,128,674 (GRCm39)	missense	probably benign
RF056:Rbm28	UTSW	6	29,157,052 (GRCm39)	frame shift	probably null
Z1176:Rbm28	UTSW	6	29,128,546 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGTTAGATCCCTGCACCAC -3'
(R):5'- CATGTAAGAAAGCTCAGCCGC -3'

Sequencing Primer
(F):5'- GGATCAGAAGGTCACGTTCATTCTC -3'
(R):5'- GCTTACATATCAGCCCCGATGATG -3'

Posted On

2015-04-17