Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:Rbm28'

17649

Institutional Source

Beutler Lab

Gene Symbol

Rbm28

Ensembl Gene

ENSMUSG00000029701

Gene Name

RNA binding motif protein 28

Synonyms

2810480G15Rik

MMRRC Submission

038392-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

29123572-29164975 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29127802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 705 (V705L)

Ref Sequence

ENSEMBL: ENSMUSP00000007993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007993] [ENSMUST00000164563]

AlphaFold

Q8CGC6

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000007993
AA Change: V705L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000007993
Gene: ENSMUSG00000029701
AA Change: V705L

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

probably benign
Transcript: ENSMUST00000164563

SMART Domains

Protein: ENSMUSP00000127856
Gene: ENSMUSG00000029701

Domain	Start	End	E-Value	Type
low complexity region	96	108	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169214

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 87.6%
3x: 83.1%
10x: 68.0%
20x: 43.0%

Validation Efficiency

97% (89/92)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	A	T	11: 43,478,200 (GRCm39)		probably benign	Het
A730018C14Rik	A	T	12: 112,381,628 (GRCm39)		noncoding transcript	Het
Abca5	A	T	11: 110,210,651 (GRCm39)	L176Q	probably damaging	Het
Aspm	C	A	1: 139,404,614 (GRCm39)	Q1315K	probably benign	Het
Bpifb4	A	G	2: 153,782,888 (GRCm39)	D31G	probably benign	Het
Brf1	A	G	12: 112,937,083 (GRCm39)		probably benign	Het
Card19	A	C	13: 49,361,621 (GRCm39)	D3E	probably benign	Het
Chd6	A	G	2: 160,809,822 (GRCm39)	F1480L	probably damaging	Het
Cldn25	A	G	9: 48,958,933 (GRCm39)		noncoding transcript	Het
Col11a2	A	G	17: 34,276,249 (GRCm39)	N799D	probably damaging	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Cyp2g1	T	A	7: 26,513,607 (GRCm39)	I182N	probably damaging	Het
Dntt	A	T	19: 41,044,185 (GRCm39)		probably benign	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Dysf	C	A	6: 84,090,318 (GRCm39)	F956L	probably benign	Het
Ephb6	T	C	6: 41,596,528 (GRCm39)		probably benign	Het
Firrm	T	C	1: 163,810,380 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,368,858 (GRCm39)	R234Q	probably benign	Het
Gda	T	C	19: 21,374,920 (GRCm39)	D332G	probably benign	Het
Ggt7	C	T	2: 155,336,813 (GRCm39)	A560T	possibly damaging	Het
Glis3	A	T	19: 28,509,268 (GRCm39)	S239T	possibly damaging	Het
Glyctk	G	A	9: 106,033,168 (GRCm39)	P124L	probably benign	Het
Gm10845	T	A	14: 80,100,644 (GRCm39)		noncoding transcript	Het
H13	A	G	2: 152,528,176 (GRCm39)	K175R	probably benign	Het
Igsf6	T	A	7: 120,673,677 (GRCm39)	I18F	probably benign	Het
Immt	A	G	6: 71,828,828 (GRCm39)	S128G	probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kif13a	G	T	13: 46,978,823 (GRCm39)		probably benign	Het
L2hgdh	A	T	12: 69,752,563 (GRCm39)	Y239*	probably null	Het
Lamp1	A	G	8: 13,224,550 (GRCm39)	T405A	probably damaging	Het
Lpin1	A	T	12: 16,590,980 (GRCm39)	N817K	possibly damaging	Het
Macf1	G	A	4: 123,302,357 (GRCm39)	T715I	probably benign	Het
Mapk12	T	C	15: 89,017,187 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,763,480 (GRCm39)	N205K	probably damaging	Het
Nat10	A	G	2: 103,587,550 (GRCm39)	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,524,529 (GRCm39)	E317G	possibly damaging	Het
Nolc1	T	A	19: 46,068,528 (GRCm39)		probably benign	Het
Nomo1	T	C	7: 45,687,056 (GRCm39)	I72T	probably damaging	Het
Or5b98	A	G	19: 12,931,720 (GRCm39)	I256V	probably benign	Het
Pappa2	C	T	1: 158,542,547 (GRCm39)	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 99,899,580 (GRCm39)	M65V	probably benign	Het
Pnisr	T	C	4: 21,874,617 (GRCm39)		probably benign	Het
Prss34	A	T	17: 25,517,700 (GRCm39)	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,818,338 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pygb	A	G	2: 150,648,123 (GRCm39)	D119G	probably benign	Het
Racgap1	T	C	15: 99,540,839 (GRCm39)	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,326,570 (GRCm39)	C166R	probably benign	Het
Rgs1	C	T	1: 144,124,287 (GRCm39)	V50M	probably benign	Het
Rgs12	C	T	5: 35,124,008 (GRCm39)	T597I	probably benign	Het
Ros1	T	C	10: 52,018,363 (GRCm39)	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,450,182 (GRCm39)	R58G	probably damaging	Het
Slc6a7	A	G	18: 61,135,295 (GRCm39)	V411A	probably benign	Het
Slco1a6	A	T	6: 142,103,116 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,955,020 (GRCm39)	D1077E	probably damaging	Het
Srek1	G	A	13: 103,880,131 (GRCm39)	H476Y	unknown	Het
Strn3	A	G	12: 51,668,571 (GRCm39)	V673A	probably benign	Het
Tepsin	T	C	11: 119,982,637 (GRCm39)		probably null	Het
Tmem131l	C	T	3: 83,842,122 (GRCm39)		probably benign	Het
Tmem132c	T	C	5: 127,631,733 (GRCm39)	V664A	possibly damaging	Het
Tmprss15	T	C	16: 78,800,277 (GRCm39)	D602G	probably damaging	Het
Trbv15	T	C	6: 41,118,199 (GRCm39)		probably benign	Het
Trpm4	A	G	7: 44,968,664 (GRCm39)		probably null	Het
Wdr70	A	T	15: 8,049,068 (GRCm39)		probably null	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
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
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

Posted On

2013-01-31