Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02397:Rbm8a2'

291703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm8a2

Ensembl Gene

ENSMUSG00000078184

Gene Name

RNA binding motif protein 8A2

Synonyms

Y14, B020018G12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL02397

Quality Score

Status

Chromosome

Chromosomal Location

175805784-175806509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 175806204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 91 (D91G)

Ref Sequence

ENSEMBL: ENSMUSP00000100599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065967] [ENSMUST00000104983] [ENSMUST00000111167] [ENSMUST00000125404]

AlphaFold

A0A0N4SUH6

Predicted Effect

probably benign
Transcript: ENSMUST00000065967

SMART Domains

Protein: ENSMUSP00000069326
Gene: ENSMUSG00000055214

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
PLDc	215	242	3.62e-3	SMART
Pfam:PLDc_3	245	421	2e-101	PFAM
PLDc	434	460	6.11e0	SMART
low complexity region	511	521	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000104983
AA Change: D91G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100599
Gene: ENSMUSG00000078184
AA Change: D91G

Domain	Start	End	E-Value	Type
low complexity region	27	46	N/A	INTRINSIC
RRM	74	147	8.44e-22	SMART
low complexity region	152	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111167

SMART Domains

Protein: ENSMUSP00000106797
Gene: ENSMUSG00000055214

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PLDc	153	180	3.62e-3	SMART
PLDc	372	398	6.11e0	SMART
low complexity region	449	459	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125404

SMART Domains

Protein: ENSMUSP00000121428
Gene: ENSMUSG00000055214

Domain	Start	End	E-Value	Type
transmembrane domain	69	91	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,623,834 (GRCm39)	N400S	probably benign	Het
Adam12	T	A	7: 133,511,548 (GRCm39)		probably benign	Het
Adam5	T	C	8: 25,234,149 (GRCm39)		probably benign	Het
Amn	A	T	12: 111,240,913 (GRCm39)	Y139F	possibly damaging	Het
Ano10	C	A	9: 122,090,458 (GRCm39)	R285L	probably damaging	Het
Atad2b	A	G	12: 5,024,046 (GRCm39)	Y57C	probably damaging	Het
Brd8	T	C	18: 34,737,926 (GRCm39)	K786R	probably damaging	Het
Cacna2d1	T	C	5: 16,525,162 (GRCm39)		probably benign	Het
Card9	C	T	2: 26,242,341 (GRCm39)	D532N	probably damaging	Het
Cd22	T	C	7: 30,577,050 (GRCm39)	T86A	probably benign	Het
Cebpz	A	T	17: 79,230,690 (GRCm39)	D842E	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cspp1	A	G	1: 10,178,690 (GRCm39)	N713S	possibly damaging	Het
Eml5	T	C	12: 98,756,933 (GRCm39)	T1899A	probably benign	Het
Fpgs	T	C	2: 32,575,801 (GRCm39)	T381A	probably damaging	Het
Frmd7	G	A	X: 49,984,775 (GRCm39)	T465I	possibly damaging	Het
Gm9837	A	T	11: 53,360,987 (GRCm39)		probably benign	Het
Hectd3	C	A	4: 116,860,333 (GRCm39)	A816D	possibly damaging	Het
Itpripl2	A	G	7: 118,089,519 (GRCm39)	W347R	probably damaging	Het
Kcnc3	A	G	7: 44,245,218 (GRCm39)	T503A	probably damaging	Het
Mmadhc	T	C	2: 50,178,992 (GRCm39)	E142G	possibly damaging	Het
Nabp2	T	A	10: 128,244,192 (GRCm39)	N138I	possibly damaging	Het
Obscn	A	G	11: 58,967,725 (GRCm39)	V2902A	possibly damaging	Het
Samd3	A	T	10: 26,109,474 (GRCm39)	Y134F	possibly damaging	Het
Slc11a2	A	G	15: 100,299,530 (GRCm39)	F58S	probably damaging	Het
Slitrk4	T	C	X: 63,316,290 (GRCm39)	T126A	probably damaging	Het
Sspo	C	A	6: 48,438,572 (GRCm39)	P1547T	probably benign	Het
Tecta	T	C	9: 42,306,294 (GRCm39)	S45G	probably damaging	Het
Tenm3	T	C	8: 48,689,729 (GRCm39)	T1937A	possibly damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trmt1l	T	A	1: 151,315,282 (GRCm39)	I156N	probably damaging	Het
Vmn1r71	C	T	7: 10,482,199 (GRCm39)	R163Q	probably benign	Het
Ythdf2	C	T	4: 131,938,757 (GRCm39)	G13D	probably damaging	Het
Zbtb7c	A	T	18: 76,270,047 (GRCm39)	Y45F	possibly damaging	Het
Zfc3h1	G	A	10: 115,243,890 (GRCm39)	M740I	probably damaging	Het

Other mutations in Rbm8a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Rbm8a2	APN	1	175,806,228 (GRCm39)	missense	possibly damaging	0.95
R2202:Rbm8a2	UTSW	1	175,806,420 (GRCm39)	missense	possibly damaging	0.89
R4815:Rbm8a2	UTSW	1	175,806,024 (GRCm39)	missense	probably damaging	0.96
R5356:Rbm8a2	UTSW	1	175,806,255 (GRCm39)	missense	possibly damaging	0.91
R6029:Rbm8a2	UTSW	1	175,806,312 (GRCm39)	missense	probably benign	0.16
R6288:Rbm8a2	UTSW	1	175,806,111 (GRCm39)	missense	probably benign	0.26
R6305:Rbm8a2	UTSW	1	175,806,312 (GRCm39)	missense	probably benign	0.16
R7899:Rbm8a2	UTSW	1	175,806,207 (GRCm39)	missense	probably benign	0.08
R8332:Rbm8a2	UTSW	1	175,805,967 (GRCm39)	missense	unknown

Posted On

2015-04-16