Mutagenetix > Incidental Mutation

Incidental Mutation 'R6288:Rbm8a2'

509225

Institutional Source

Beutler Lab

Gene Symbol

Rbm8a2

Ensembl Gene

ENSMUSG00000078184

Gene Name

RNA binding motif protein 8A2

Synonyms

Y14, B020018G12Rik

MMRRC Submission

044458-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R6288 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

175805784-175806509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 175806111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 122 (E122G)

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 benign
Transcript: ENSMUST00000104983
AA Change: E122G

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100599
Gene: ENSMUSG00000078184
AA Change: E122G

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	T	11: 58,184,421 (GRCm39)	D380Y	probably damaging	Het
4931406B18Rik	T	A	7: 43,147,549 (GRCm39)	E274V	probably damaging	Het
Ankrd44	A	G	1: 54,802,922 (GRCm39)	L192P	probably damaging	Het
Apbb1	T	A	7: 105,208,434 (GRCm39)	I624F	probably damaging	Het
Asxl2	A	G	12: 3,526,040 (GRCm39)	K219E	possibly damaging	Het
Bean1	T	A	8: 104,937,622 (GRCm39)	L33Q	probably damaging	Het
Cdhr17	T	A	5: 17,061,283 (GRCm39)	C738S	possibly damaging	Het
Col22a1	T	C	15: 71,766,718 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,945,462 (GRCm39)	D884G	probably damaging	Het
Crocc2	A	G	1: 93,122,227 (GRCm39)	R707G	probably benign	Het
Cts7	C	T	13: 61,500,584 (GRCm39)	G321E	probably damaging	Het
Cyp2d9	C	T	15: 82,340,616 (GRCm39)	H422Y	probably damaging	Het
Epha2	C	T	4: 141,044,344 (GRCm39)	A382V	probably benign	Het
Fam151a	A	C	4: 106,605,341 (GRCm39)	T568P	probably damaging	Het
Fbln2	A	T	6: 91,210,263 (GRCm39)	Y69F	probably damaging	Het
Flg2	A	T	3: 93,111,092 (GRCm39)	H1040L	unknown	Het
Gucy2g	T	C	19: 55,215,945 (GRCm39)	T476A	probably benign	Het
H3c7	A	G	13: 23,728,664 (GRCm39)	T4A	probably benign	Het
Ighv1-20	C	T	12: 114,687,519 (GRCm39)	G75D	probably benign	Het
Inpp5b	G	A	4: 124,679,020 (GRCm39)	V476I	probably benign	Het
Nrxn2	T	A	19: 6,540,591 (GRCm39)	L855Q	probably damaging	Het
Or52ab2	A	G	7: 102,970,286 (GRCm39)	I223V	probably damaging	Het
Or8h7	A	G	2: 86,721,226 (GRCm39)	F98L	probably benign	Het
Pcolce2	T	A	9: 95,563,646 (GRCm39)	Y211N	probably damaging	Het
Phf21b	A	C	15: 84,739,272 (GRCm39)		probably benign	Het
Rimbp3	C	T	16: 17,030,772 (GRCm39)	P1399S	probably benign	Het
Slc38a1	A	G	15: 96,484,759 (GRCm39)	V267A	probably benign	Het
Sox11	A	G	12: 27,392,332 (GRCm39)	F26L	possibly damaging	Het
Ssbp3	T	A	4: 106,903,277 (GRCm39)		probably null	Het
Trim12c	C	T	7: 103,995,936 (GRCm39)	V146I	probably benign	Het
Trrap	C	A	5: 144,748,802 (GRCm39)	T1543K	probably damaging	Het
Zfp473	C	A	7: 44,382,958 (GRCm39)	K457N	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
IGL02397:Rbm8a2	APN	1	175,806,204 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTAGCCCTGTTTAATCCAAGGC -3'
(R):5'- CAGCGCTCTGTTGAAGGTTG -3'

Sequencing Primer
(F):5'- TGGACTTGTAGAGAGACCACCC -3'
(R):5'- GGATTCTCTTTGTCACTGGAGTCC -3'

Posted On

2018-04-02