Mutagenetix > Incidental Mutation

Incidental Mutation 'R0884:Rbm28'

81038

Institutional Source

Beutler Lab

Gene Symbol

Rbm28

Ensembl Gene

ENSMUSG00000029701

Gene Name

RNA binding motif protein 28

Synonyms

2810480G15Rik

MMRRC Submission

039051-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29123572-29164975 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29155153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 217 (S217T)

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

possibly damaging
Transcript: ENSMUST00000007993
AA Change: S217T

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000007993
Gene: ENSMUSG00000029701
AA Change: S217T

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,700 (GRCm39)	I844N	possibly damaging	Het
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,574,624 (GRCm39)		probably benign	Het
Adam6b	A	T	12: 113,454,615 (GRCm39)	R477S	probably damaging	Het
Aqp7	T	A	4: 41,034,929 (GRCm39)	T175S	possibly damaging	Het
Bclaf1	A	T	10: 20,197,822 (GRCm39)	R22*	probably null	Het
Bend7	A	T	2: 4,749,055 (GRCm39)	K57N	probably damaging	Het
Bicc1	A	C	10: 70,794,677 (GRCm39)	V160G	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cep72	A	G	13: 74,203,000 (GRCm39)		probably null	Het
Cobl	A	G	11: 12,325,908 (GRCm39)	I196T	possibly damaging	Het
Cux1	T	G	5: 136,336,689 (GRCm39)	D941A	probably damaging	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dennd2b	A	G	7: 109,156,552 (GRCm39)	L66P	probably damaging	Het
Depdc5	T	A	5: 33,075,322 (GRCm39)	V500D	possibly damaging	Het
Dhx35	T	C	2: 158,673,631 (GRCm39)	I354T	probably damaging	Het
Dnase1l2	A	G	17: 24,660,854 (GRCm39)	V170A	possibly damaging	Het
Eif4g3	C	A	4: 137,879,087 (GRCm39)	N588K	possibly damaging	Het
Epsti1	A	T	14: 78,168,715 (GRCm39)	R117S	probably damaging	Het
Fam53a	T	C	5: 33,758,160 (GRCm39)	E321G	probably benign	Het
Fat4	C	A	3: 39,037,007 (GRCm39)	T3553K	possibly damaging	Het
Fer1l4	T	C	2: 155,861,233 (GRCm39)	T1978A	possibly damaging	Het
Gabarapl2	A	T	8: 112,669,137 (GRCm39)	I32F	probably damaging	Het
Gje1	G	T	10: 14,592,484 (GRCm39)	S99R	possibly damaging	Het
Gosr1	A	G	11: 76,620,972 (GRCm39)	I239T	probably benign	Het
Gpnmb	T	C	6: 49,024,847 (GRCm39)	V293A	possibly damaging	Het
Hyi	T	A	4: 118,217,414 (GRCm39)	I62N	probably damaging	Het
Il4ra	A	G	7: 125,173,835 (GRCm39)	I267V	probably damaging	Het
Kcnd2	A	T	6: 21,216,540 (GRCm39)	Q81H	probably benign	Het
Ksr1	A	T	11: 78,912,329 (GRCm39)	H675Q	possibly damaging	Het
Lpcat4	A	G	2: 112,073,077 (GRCm39)	N208S	probably damaging	Het
Muc17	T	A	5: 137,171,146 (GRCm39)	T162S	possibly damaging	Het
Mup3	T	A	4: 62,005,411 (GRCm39)	I20F	possibly damaging	Het
Nebl	A	C	2: 17,415,929 (GRCm39)	S327A	probably benign	Het
Nfatc4	A	C	14: 56,064,101 (GRCm39)	D126A	probably damaging	Het
Nmt2	A	T	2: 3,315,822 (GRCm39)	R271*	probably null	Het
Nol7	G	A	13: 43,554,091 (GRCm39)	V133I	probably benign	Het
Or1e1c	A	T	11: 73,265,715 (GRCm39)	I47F	probably benign	Het
Or51ag1	C	T	7: 103,156,069 (GRCm39)	W28*	probably null	Het
Pde4d	A	T	13: 110,087,474 (GRCm39)	I670L	probably damaging	Het
Phlpp1	T	A	1: 106,317,395 (GRCm39)		probably null	Het
Pigz	A	G	16: 31,760,794 (GRCm39)		probably null	Het
Pramel21	A	G	4: 143,341,754 (GRCm39)	D61G	probably benign	Het
Prrg4	A	T	2: 104,669,707 (GRCm39)	Y137N	probably damaging	Het
Ryr2	T	C	13: 11,569,415 (GRCm39)	D4963G	probably damaging	Het
Slc35b2	T	A	17: 45,877,751 (GRCm39)	F293I	probably damaging	Het
Slc35f1	A	T	10: 52,965,443 (GRCm39)	Y286F	probably damaging	Het
Slc6a18	G	T	13: 73,815,156 (GRCm39)	A384D	probably damaging	Het
Syt9	A	G	7: 107,035,768 (GRCm39)	I262V	probably damaging	Het
Tln2	C	A	9: 67,278,015 (GRCm39)	R333L	probably damaging	Het
Tnrc6b	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAG	15: 80,786,756 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,581,410 (GRCm39)	T14834I	possibly damaging	Het
Uggt1	T	C	1: 36,214,159 (GRCm39)	S177G	probably benign	Het
Zfp454	A	G	11: 50,764,764 (GRCm39)	S223P	probably benign	Het
Zmat4	A	G	8: 24,505,143 (GRCm39)	T128A	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
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
R3917:Rbm28	UTSW	6	29,154,788 (GRCm39)	missense	probably benign	0.00
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'- GCGGTCTTCCCTAGTTCTCAGAATGT -3'
(R):5'- GCCCAAACCCTCAGGTGCTCAA -3'

Sequencing Primer
(F):5'- TCTTGTGCACACTCACAGGA -3'
(R):5'- agccctcaaagcccacc -3'

Posted On

2013-11-07