Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01809:Rbm8a'

155758

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm8a

Ensembl Gene

ENSMUSG00000038374

Gene Name

RNA binding motif protein 8a

Synonyms

2310057C03Rik, Rbm8

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01809

Quality Score

Status

Chromosome

Chromosomal Location

96537249-96541107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96538853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 101 (F101I)

Ref Sequence

ENSEMBL: ENSMUSP00000142699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048766] [ENSMUST00000048915] [ENSMUST00000118557] [ENSMUST00000137564] [ENSMUST00000200647] [ENSMUST00000196456] [ENSMUST00000198027] [ENSMUST00000156015] [ENSMUST00000165842]

AlphaFold

Q9CWZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000048766

SMART Domains

Protein: ENSMUSP00000037962
Gene: ENSMUSG00000028102

Domain	Start	End	E-Value	Type
Pfam:PEX11	1	251	1.9e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000048915
AA Change: F149I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044548
Gene: ENSMUSG00000038374
AA Change: F149I

Domain	Start	End	E-Value	Type
low complexity region	27	36	N/A	INTRINSIC
RRM	74	147	8.44e-22	SMART
low complexity region	152	174	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000059190

Predicted Effect

probably benign
Transcript: ENSMUST00000118557

SMART Domains

Protein: ENSMUSP00000113365
Gene: ENSMUSG00000028102

Domain	Start	End	E-Value	Type
Pfam:PEX11	1	251	8.3e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137564

SMART Domains

Protein: ENSMUSP00000121011
Gene: ENSMUSG00000106447

Domain	Start	End	E-Value	Type
Pfam:PEX11	1	172	4.5e-57	PFAM
low complexity region	186	204	N/A	INTRINSIC
Int_alpha	222	278	9.03e-3	SMART
Blast:VWA	292	345	3e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144962

Predicted Effect

probably damaging
Transcript: ENSMUST00000200647
AA Change: F101I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142699
Gene: ENSMUSG00000038374
AA Change: F101I

Domain	Start	End	E-Value	Type
RRM	25	98	3.5e-24	SMART
low complexity region	103	125	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000196456
AA Change: F150I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143190
Gene: ENSMUSG00000038374
AA Change: F150I

Domain	Start	End	E-Value	Type
low complexity region	27	36	N/A	INTRINSIC
RRM	74	147	8.44e-22	SMART
low complexity region	152	174	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000198027
AA Change: F161I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143346
Gene: ENSMUSG00000038374
AA Change: F161I

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
low complexity region	38	47	N/A	INTRINSIC
RRM	85	158	3.5e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199022

Predicted Effect

probably benign
Transcript: ENSMUST00000156015

Predicted Effect

probably benign
Transcript: ENSMUST00000165842

SMART Domains

Protein: ENSMUSP00000126631
Gene: ENSMUSG00000028102

Domain	Start	End	E-Value	Type
Pfam:PEX11	3	237	8.9e-69	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,240,339 (GRCm39)	N734I	probably damaging	Het
Abi1	T	C	2: 22,836,729 (GRCm39)	I371V	probably benign	Het
Atp8b3	A	G	10: 80,355,845 (GRCm39)	F1289S	probably benign	Het
Brca2	T	A	5: 150,454,526 (GRCm39)		probably null	Het
C8a	A	T	4: 104,703,139 (GRCm39)	I306N	probably benign	Het
Crybg3	G	T	16: 59,345,216 (GRCm39)		probably benign	Het
Disp2	T	A	2: 118,617,745 (GRCm39)		probably benign	Het
Dtl	A	G	1: 191,280,415 (GRCm39)	F373S	probably damaging	Het
Dynlt1a	G	A	17: 6,361,147 (GRCm39)		probably null	Het
Dyrk1a	G	A	16: 94,460,476 (GRCm39)	R44H	probably benign	Het
Fam114a2	C	T	11: 57,404,461 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,808,691 (GRCm39)	E1670G	possibly damaging	Het
Gbp10	A	T	5: 105,365,225 (GRCm39)	N594K	probably benign	Het
Gpam	T	A	19: 55,064,057 (GRCm39)	K679*	probably null	Het
Gtf2i	A	T	5: 134,278,804 (GRCm39)	V524E	probably damaging	Het
Itpr2	T	A	6: 146,129,079 (GRCm39)	E2011D	probably damaging	Het
Jag1	C	A	2: 136,957,404 (GRCm39)	G103W	probably damaging	Het
Klkb1	A	T	8: 45,729,090 (GRCm39)	V378E	probably benign	Het
Lyst	T	A	13: 13,812,388 (GRCm39)	S933R	probably damaging	Het
Man2b2	T	C	5: 36,971,860 (GRCm39)	S619G	probably benign	Het
Mex3b	T	C	7: 82,518,920 (GRCm39)	S412P	probably benign	Het
Mtf2	A	G	5: 108,235,191 (GRCm39)	I36V	probably benign	Het
Nckipsd	T	C	9: 108,694,753 (GRCm39)	Y652H	probably damaging	Het
Or5ak24	A	G	2: 85,260,498 (GRCm39)	L225P	probably damaging	Het
Or5w13	T	C	2: 87,524,089 (GRCm39)	I46V	possibly damaging	Het
Or8b12i	A	G	9: 20,082,591 (GRCm39)	I92T	probably damaging	Het
Or8g53	A	T	9: 39,683,990 (GRCm39)	Y35*	probably null	Het
Phykpl	T	C	11: 51,490,351 (GRCm39)	F411L	probably benign	Het
Rbp3	G	T	14: 33,677,257 (GRCm39)	G402W	probably damaging	Het
Recql4	G	A	15: 76,593,070 (GRCm39)	R254*	probably null	Het
Rsph14	G	A	10: 74,793,618 (GRCm39)		probably benign	Het
Stau2	A	T	1: 16,510,539 (GRCm39)		probably null	Het
Tmprss11c	G	A	5: 86,385,521 (GRCm39)	S304L	possibly damaging	Het
Vipr1	T	G	9: 121,490,506 (GRCm39)	M184R	possibly damaging	Het
Zfp106	G	A	2: 120,364,152 (GRCm39)	R752C	probably damaging	Het

Other mutations in Rbm8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1616:Rbm8a	UTSW	3	96,539,046 (GRCm39)	utr 3 prime	probably benign
R4706:Rbm8a	UTSW	3	96,537,368 (GRCm39)	unclassified	probably benign
R5186:Rbm8a	UTSW	3	96,538,248 (GRCm39)	missense	probably damaging	0.99
R7693:Rbm8a	UTSW	3	96,537,624 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-02-04