Mutagenetix > Incidental Mutation

Incidental Mutation 'R1958:Rbmxl2'

269762

Institutional Source

Beutler Lab

Gene Symbol

Rbmxl2

Ensembl Gene

ENSMUSG00000073894

Gene Name

RNA binding motif protein, X-linked-like 2

Synonyms

1700012H05Rik

MMRRC Submission

039972-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R1958 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

106808652-106810123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106809405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 230 (D230G)

Ref Sequence

ENSEMBL: ENSMUSP00000095739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098135]

AlphaFold

Q9DAE2

Predicted Effect

probably benign
Transcript: ENSMUST00000098135
AA Change: D230G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095739
Gene: ENSMUSG00000073894
AA Change: D230G

Domain	Start	End	E-Value	Type
RRM	9	82	1.12e-26	SMART
low complexity region	91	125	N/A	INTRINSIC
Pfam:RBM1CTR	169	214	9.9e-21	PFAM
Blast:RRM	219	250	5e-11	BLAST
low complexity region	285	307	N/A	INTRINSIC
low complexity region	316	337	N/A	INTRINSIC
low complexity region	358	384	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

97% (99/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	T	4: 62,457,146 (GRCm39)	N155I	probably benign	Het
Abca14	A	G	7: 119,924,382 (GRCm39)	Y1678C	probably damaging	Het
Adamts19	A	T	18: 59,103,078 (GRCm39)	R706S	probably benign	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Adss2	A	G	1: 177,597,544 (GRCm39)	I372T	probably damaging	Het
Arhgap15	T	A	2: 44,133,136 (GRCm39)	D347E	possibly damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Asb8	T	C	15: 98,034,097 (GRCm39)	T153A	possibly damaging	Het
Aspscr1	G	T	11: 120,580,034 (GRCm39)	G191V	probably null	Het
Atm	T	C	9: 53,382,718 (GRCm39)	H1957R	probably damaging	Het
Atp13a5	A	G	16: 29,133,419 (GRCm39)	Y411H	probably damaging	Het
Cadm1	T	G	9: 47,761,633 (GRCm39)	I411S	probably damaging	Het
Cdh23	T	A	10: 60,246,652 (GRCm39)	M927L	probably benign	Het
Cdk15	A	T	1: 59,383,475 (GRCm39)	R423W	probably damaging	Het
Cep250	T	A	2: 155,818,301 (GRCm39)		probably null	Het
Cfap43	T	A	19: 47,885,649 (GRCm39)	Y322F	probably benign	Het
Cfap54	T	C	10: 92,833,204 (GRCm39)	S1141G	probably benign	Het
Clnk	T	C	5: 38,863,969 (GRCm39)	Y428C	possibly damaging	Het
Cnksr1	A	G	4: 133,955,727 (GRCm39)	S668P	probably benign	Het
Cpxm2	A	T	7: 131,663,876 (GRCm39)	I349N	probably damaging	Het
Csmd3	A	G	15: 47,868,035 (GRCm39)		probably null	Het
Cstdc3	T	C	16: 36,132,927 (GRCm39)	L68P	possibly damaging	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dph2	A	T	4: 117,749,041 (GRCm39)	F5I	probably damaging	Het
Dst	T	A	1: 34,202,802 (GRCm39)	F325L	probably damaging	Het
Edem3	T	C	1: 151,680,076 (GRCm39)	L474S	probably damaging	Het
Emilin1	T	A	5: 31,075,160 (GRCm39)	L467Q	probably benign	Het
Fam170a	G	A	18: 50,415,181 (GRCm39)	E276K	probably benign	Het
Farp1	A	T	14: 121,456,787 (GRCm39)		probably null	Het
Fbrs	A	T	7: 127,085,163 (GRCm39)	T584S	possibly damaging	Het
Fbxo22	T	A	9: 55,116,626 (GRCm39)		probably null	Het
Fhod3	T	G	18: 25,223,522 (GRCm39)	L956R	probably damaging	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm11444	A	T	11: 85,738,999 (GRCm39)		probably benign	Het
Gm14443	T	C	2: 175,011,497 (GRCm39)	I316M	probably benign	Het
Has3	A	T	8: 107,605,435 (GRCm39)	Y547F	probably benign	Het
Hdhd2	A	G	18: 77,052,841 (GRCm39)	T164A	probably benign	Het
Hoxb9	T	A	11: 96,162,880 (GRCm39)	D171E	possibly damaging	Het
Hpx	A	G	7: 105,245,603 (GRCm39)	Y118H	probably damaging	Het
Iqsec1	T	C	6: 90,647,441 (GRCm39)	K858E	probably damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Lama2	C	A	10: 26,857,594 (GRCm39)	R3085L	probably damaging	Het
Lyst	C	A	13: 13,791,203 (GRCm39)	A22E	probably damaging	Het
Man2a1	T	C	17: 65,057,830 (GRCm39)	F1079L	probably benign	Het
Marco	C	T	1: 120,412,593 (GRCm39)	G303R	probably damaging	Het
Marveld2	A	C	13: 100,733,858 (GRCm39)	I536R	probably damaging	Het
Mcm5	A	G	8: 75,848,257 (GRCm39)	D502G	probably benign	Het
Mdga1	A	T	17: 30,059,862 (GRCm39)	L653Q	probably damaging	Het
Mical2	A	G	7: 111,980,311 (GRCm39)	D161G	probably benign	Het
Mroh2a	C	T	1: 88,165,213 (GRCm39)	R445*	probably null	Het
Mrpl46	A	T	7: 78,431,146 (GRCm39)		probably null	Het
Nckipsd	C	A	9: 108,691,863 (GRCm39)		probably null	Het
Nek11	T	C	9: 105,170,916 (GRCm39)	D373G	probably benign	Het
Nle1	G	A	11: 82,795,068 (GRCm39)	S321F	probably benign	Het
Noxa1	A	G	2: 24,980,620 (GRCm39)	S130P	probably damaging	Het
Or10a5	A	G	7: 106,635,478 (GRCm39)	T39A	possibly damaging	Het
Or51v14	T	A	7: 103,260,618 (GRCm39)	*314L	probably null	Het
Or5l13	A	T	2: 87,779,809 (GRCm39)	L256H	probably damaging	Het
Or8b39	T	A	9: 37,996,419 (GRCm39)	C96S	probably damaging	Het
Parp3	T	G	9: 106,352,021 (GRCm39)		probably null	Het
Pask	A	T	1: 93,249,180 (GRCm39)	I740N	probably benign	Het
Pelp1	A	G	11: 70,289,347 (GRCm39)	F221S	probably damaging	Het
Pkd1l1	T	G	11: 8,824,161 (GRCm39)	K1135Q	probably benign	Het
Plcl2	A	T	17: 50,915,109 (GRCm39)	Q706L	probably damaging	Het
Psg26	T	C	7: 18,212,264 (GRCm39)	T364A	probably benign	Het
Ptprb	C	T	10: 116,177,441 (GRCm39)	T1047M	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab37	C	T	11: 115,051,177 (GRCm39)	A155V	probably damaging	Het
Rbbp6	A	C	7: 122,601,168 (GRCm39)		probably benign	Het
Rsf1	CGGCGGCGGCGGCGGCGGCGGCGGCGGC	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,115 (GRCm39)		probably benign	Het
Sass6	G	T	3: 116,403,945 (GRCm39)	K194N	possibly damaging	Het
Sgpp1	T	G	12: 75,782,222 (GRCm39)	D39A	probably benign	Het
Shank3	T	C	15: 89,387,351 (GRCm39)	V198A	probably damaging	Het
Sin3a	T	A	9: 57,012,893 (GRCm39)	S591T	probably damaging	Het
Slc12a6	C	T	2: 112,185,503 (GRCm39)	T924I	possibly damaging	Het
Sln	T	A	9: 53,760,785 (GRCm39)	I10N	probably benign	Het
St3gal3	A	T	4: 117,797,268 (GRCm39)	M309K	probably damaging	Het
Syne2	T	A	12: 76,016,319 (GRCm39)	D3301E	probably benign	Het
Tgtp2	A	G	11: 48,949,919 (GRCm39)	S218P	probably damaging	Het
Tha1	C	T	11: 117,760,179 (GRCm39)		probably benign	Het
Tmem102	A	G	11: 69,695,225 (GRCm39)	V249A	probably benign	Het
Top3b	G	A	16: 16,702,166 (GRCm39)	E268K	possibly damaging	Het
Trip4	T	C	9: 65,746,307 (GRCm39)	S530G	possibly damaging	Het
Tut1	T	A	19: 8,936,677 (GRCm39)	V167E	probably damaging	Het
Tut4	A	T	4: 108,412,903 (GRCm39)	S1535C	probably damaging	Het
Ube2u	A	T	4: 100,338,833 (GRCm39)	M33L	probably benign	Het
Unc79	T	C	12: 102,957,621 (GRCm39)	I12T	probably damaging	Het
Unc79	A	T	12: 103,041,178 (GRCm39)	D737V	probably benign	Het
Vmn1r26	A	G	6: 57,985,286 (GRCm39)	V301A	probably benign	Het
Vmn1r86	A	G	7: 12,836,621 (GRCm39)	V35A	possibly damaging	Het
Vmn2r98	A	C	17: 19,286,680 (GRCm39)	N393H	possibly damaging	Het
Vps13b	T	G	15: 35,878,835 (GRCm39)	S2945A	probably damaging	Het
Whrn	C	T	4: 63,353,666 (GRCm39)	R367H	possibly damaging	Het
Zfp235	A	T	7: 23,839,771 (GRCm39)	L133F	probably damaging	Het
Zfp74	T	C	7: 29,635,136 (GRCm39)	T191A	probably benign	Het
Zfp943	A	T	17: 22,211,979 (GRCm39)	K355I	probably damaging	Het
Zranb1	T	G	7: 132,584,458 (GRCm39)	S601R	probably damaging	Het
Zscan29	A	T	2: 121,000,289 (GRCm39)		probably null	Het

Other mutations in Rbmxl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03147:Rbmxl2	UTSW	7	106,808,858 (GRCm39)	missense	probably benign	0.00
R2435:Rbmxl2	UTSW	7	106,809,538 (GRCm39)	missense	probably damaging	1.00
R3107:Rbmxl2	UTSW	7	106,809,624 (GRCm39)	missense	probably damaging	0.98
R5020:Rbmxl2	UTSW	7	106,809,414 (GRCm39)	missense	probably damaging	1.00
R5243:Rbmxl2	UTSW	7	106,809,044 (GRCm39)	missense	probably damaging	0.99
R5444:Rbmxl2	UTSW	7	106,809,044 (GRCm39)	missense	probably damaging	0.99
R8032:Rbmxl2	UTSW	7	106,809,429 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGGCCATCAAAGTGGCC -3'
(R):5'- AGCCTCGGTACTCGTCATAG -3'

Sequencing Primer
(F):5'- TACACGGGGGATTTCGACCTG -3'
(R):5'- TACTCGTCATAGCGGCCC -3'

Posted On

2015-02-27