Mutagenetix > Incidental Mutation

Incidental Mutation 'R9479:Rbm22'

716151

Institutional Source

Beutler Lab

Gene Symbol

Rbm22

Ensembl Gene

ENSMUSG00000024604

Gene Name

RNA binding motif protein 22

Synonyms

8430430L24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9479 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60693858-60705801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60699492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 147 (L147P)

Ref Sequence

ENSEMBL: ENSMUSP00000025506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025506]

AlphaFold

Q8BHS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025506
AA Change: L147P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025506
Gene: ENSMUSG00000024604
AA Change: L147P

Domain	Start	End	E-Value	Type
ZnF_C3H1	159	185	8.15e-6	SMART
RRM	233	301	7.94e-18	SMART
low complexity region	325	345	N/A	INTRINSIC
low complexity region	366	400	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009]

Allele List at MGI

All alleles(2) : Targeted(1) Gene trapped(1)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	A	G	1: 58,177,568 (GRCm39)	Y261C	probably benign	Het
Arhgef10	T	C	8: 15,047,632 (GRCm39)	V1165A	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Bhmt2	G	A	13: 93,799,833 (GRCm39)	A201V	probably damaging	Het
Ccdc115	A	T	1: 34,476,895 (GRCm39)	S115T	possibly damaging	Het
Clca4b	A	G	3: 144,617,100 (GRCm39)	V850A	probably benign	Het
Commd8	A	T	5: 72,318,350 (GRCm39)	H144Q	probably benign	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Csnka2ip	T	C	16: 64,298,262 (GRCm39)	K701E	unknown	Het
Cyb5d2	A	G	11: 72,669,702 (GRCm39)	C219R		Het
Ep400	T	C	5: 110,877,730 (GRCm39)	T835A	unknown	Het
Fam169a	A	G	13: 97,246,543 (GRCm39)	Y228C	possibly damaging	Het
Fam169a	A	G	13: 97,250,695 (GRCm39)	D342G	possibly damaging	Het
Fbxw21	A	T	9: 108,968,612 (GRCm39)	C455S	probably benign	Het
Fbxw26	A	G	9: 109,561,625 (GRCm39)	S190P	probably damaging	Het
Gabra5	A	G	7: 57,058,440 (GRCm39)	I436T		Het
Gm9767	G	A	10: 25,954,916 (GRCm39)	G156D		Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gsn	T	C	2: 35,186,227 (GRCm39)		probably null	Het
Hao1	A	G	2: 134,396,204 (GRCm39)	S17P	probably benign	Het
Hspa1l	A	G	17: 35,196,735 (GRCm39)	N258S	probably benign	Het
Isyna1	C	T	8: 71,048,193 (GRCm39)	R200C	probably damaging	Het
Itgb2	A	T	10: 77,396,942 (GRCm39)	K659M	probably benign	Het
Klf11	T	C	12: 24,705,029 (GRCm39)	M161T	probably benign	Het
Ktn1	A	T	14: 47,962,174 (GRCm39)	K1114N	probably damaging	Het
Lonrf1	G	A	8: 36,697,668 (GRCm39)	R439*	probably null	Het
Lrrc26	C	T	2: 25,180,571 (GRCm39)	P191S	probably benign	Het
Ogdh	T	C	11: 6,297,854 (GRCm39)	I576T	possibly damaging	Het
Or10al4	T	C	17: 38,036,986 (GRCm39)	S24P	probably damaging	Het
Or14c45	T	C	7: 86,176,285 (GRCm39)	C107R	possibly damaging	Het
Or14j4	A	G	17: 37,920,718 (GRCm39)	F308S	probably damaging	Het
Or4k40	A	T	2: 111,251,013 (GRCm39)	F94L	probably damaging	Het
Or4p20	T	C	2: 88,253,677 (GRCm39)	R231G	probably damaging	Het
Or7g20	G	A	9: 18,946,730 (GRCm39)	V104I	probably benign	Het
Pcnt	A	G	10: 76,217,963 (GRCm39)	V2104A	probably benign	Het
Pds5a	G	A	5: 65,792,747 (GRCm39)	R729W	probably damaging	Het
Pgap1	G	A	1: 54,582,275 (GRCm39)	Q191*	probably null	Het
Pglyrp3	A	G	3: 91,935,310 (GRCm39)	I187V	probably benign	Het
Pkdrej	T	A	15: 85,699,571 (GRCm39)	I2122F	possibly damaging	Het
Pold1	G	A	7: 44,191,079 (GRCm39)	R251W	probably damaging	Het
Prr22	A	G	17: 57,078,335 (GRCm39)	M163V	probably benign	Het
Ptprc	A	T	1: 138,001,388 (GRCm39)	N814K	probably benign	Het
Rapgef2	G	A	3: 79,019,495 (GRCm39)	L59F	probably damaging	Het
Rgsl1	G	A	1: 153,657,445 (GRCm39)	S391F	unknown	Het
Rnf13	A	T	3: 57,727,983 (GRCm39)	D221V	possibly damaging	Het
Senp2	T	A	16: 21,842,398 (GRCm39)	L154Q	probably damaging	Het
Srfbp1	A	G	18: 52,621,332 (GRCm39)	Q131R	possibly damaging	Het
Tmprss11a	A	T	5: 86,562,402 (GRCm39)	Y314*	probably null	Het
Ttn	G	T	2: 76,666,286 (GRCm39)	P11590Q	unknown	Het
Txnrd3	C	T	6: 89,640,084 (GRCm39)	T266M	possibly damaging	Het
Zfp810	T	C	9: 22,194,497 (GRCm39)	S64G	possibly damaging	Het

Other mutations in Rbm22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Rbm22	APN	18	60,693,929 (GRCm39)	missense	probably damaging	0.96
IGL02192:Rbm22	APN	18	60,697,484 (GRCm39)	missense	possibly damaging	0.91
IGL02371:Rbm22	APN	18	60,705,028 (GRCm39)	unclassified	probably benign
IGL02423:Rbm22	APN	18	60,704,891 (GRCm39)	unclassified	probably benign
P0016:Rbm22	UTSW	18	60,703,842 (GRCm39)	splice site	probably benign
R1635:Rbm22	UTSW	18	60,694,340 (GRCm39)	missense	probably damaging	1.00
R1715:Rbm22	UTSW	18	60,693,916 (GRCm39)	missense	possibly damaging	0.65
R4720:Rbm22	UTSW	18	60,697,463 (GRCm39)	missense	probably damaging	1.00
R4721:Rbm22	UTSW	18	60,697,463 (GRCm39)	missense	probably damaging	1.00
R4722:Rbm22	UTSW	18	60,697,463 (GRCm39)	missense	probably damaging	1.00
R5619:Rbm22	UTSW	18	60,693,899 (GRCm39)	start codon destroyed	probably null	1.00
R7797:Rbm22	UTSW	18	60,694,344 (GRCm39)	missense	probably damaging	0.96
R7896:Rbm22	UTSW	18	60,702,505 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CTGGGGAAATAGATTGTGTACACGTG -3'
(R):5'- ATGCTCTACATGCAAACAGGC -3'

Sequencing Primer
(F):5'- CACGTGCTGCTGGGAATTGAATC -3'
(R):5'- CAGGCCATAAGAGCTGTAGTG -3'

Posted On

2022-07-18