Mutagenetix > Incidental Mutation

Incidental Mutation 'R7896:Rbm22'

609725

Institutional Source

Beutler Lab

Gene Symbol

Rbm22

Ensembl Gene

ENSMUSG00000024604

Gene Name

RNA binding motif protein 22

Synonyms

8430430L24Rik

MMRRC Submission

045948-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60693858-60705801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 60702505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 275 (A275S)

Ref Sequence

ENSEMBL: ENSMUSP00000025506 (fasta)

Gene Model

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

AlphaFold

Q8BHS3

Predicted Effect

probably benign
Transcript: ENSMUST00000025506
AA Change: A275S

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025506
Gene: ENSMUSG00000024604
AA Change: A275S

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: 99.7%
20x: 99.1%

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,840,792 (GRCm39)	T894A	probably damaging	Het
Abcc10	T	A	17: 46,635,235 (GRCm39)	H256L	probably benign	Het
Abcc6	A	G	7: 45,626,803 (GRCm39)	L1418P	probably damaging	Het
Actn2	G	A	13: 12,309,203 (GRCm39)	A290V	possibly damaging	Het
Actrt2	A	T	4: 154,751,652 (GRCm39)	D161E	probably benign	Het
Adam19	T	A	11: 46,028,370 (GRCm39)	C668S	probably damaging	Het
Alg8	T	C	7: 97,040,123 (GRCm39)	L435S	probably damaging	Het
Amz2	G	A	11: 109,327,413 (GRCm39)	E322K	possibly damaging	Het
Ankrd12	T	A	17: 66,292,680 (GRCm39)	R918*	probably null	Het
Atp5pb	A	G	3: 105,863,259 (GRCm39)	I59T	probably damaging	Het
Bach1	T	A	16: 87,515,893 (GRCm39)	C145S	possibly damaging	Het
Bcl6b	G	T	11: 70,117,848 (GRCm39)	S309*	probably null	Het
Birc6	G	T	17: 74,929,077 (GRCm39)	R2323L	probably damaging	Het
Catspere2	A	T	1: 177,938,740 (GRCm39)	M538L	probably benign	Het
Ccdc154	A	T	17: 25,390,800 (GRCm39)	M647L	probably benign	Het
Cdc14a	T	C	3: 116,088,482 (GRCm39)	T447A	probably benign	Het
Chst9	C	T	18: 15,585,846 (GRCm39)	R239H	probably damaging	Het
Cs	C	T	10: 128,189,004 (GRCm39)	A171V	probably damaging	Het
D3Ertd751e	T	A	3: 41,710,508 (GRCm39)	F107I	probably benign	Het
D430041D05Rik	T	C	2: 104,088,385 (GRCm39)	D197G	probably benign	Het
Dcdc2c	G	A	12: 28,520,619 (GRCm39)	Q486*	probably null	Het
Dolk	A	T	2: 30,175,961 (GRCm39)	V28E	possibly damaging	Het
Dpf2	C	T	19: 5,954,333 (GRCm39)	S191N	probably benign	Het
Eml3	T	A	19: 8,911,171 (GRCm39)	F267I	possibly damaging	Het
Entrep2	T	C	7: 64,426,557 (GRCm39)	H232R	probably damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Foxo3	T	C	10: 42,073,732 (GRCm39)	S262G	possibly damaging	Het
Gm1527	T	G	3: 28,975,742 (GRCm39)		probably null	Het
Gm49380	G	A	9: 44,024,096 (GRCm39)	L51F	probably damaging	Het
Gm9195	A	T	14: 72,693,178 (GRCm39)	H1582Q	unknown	Het
Grip1	A	G	10: 119,814,450 (GRCm39)	Q327R	possibly damaging	Het
Gstt1	A	G	10: 75,619,976 (GRCm39)	F207S	probably damaging	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Kif16b	A	G	2: 142,675,995 (GRCm39)		probably null	Het
Kif5a	A	G	10: 127,077,873 (GRCm39)	V407A	probably benign	Het
Lrrc57	C	A	2: 120,438,372 (GRCm39)	D134Y	probably damaging	Het
Map1a	A	G	2: 121,135,657 (GRCm39)	T2158A	probably benign	Het
Mink1	A	G	11: 70,503,108 (GRCm39)	N1068S	possibly damaging	Het
Mmp8	A	T	9: 7,564,978 (GRCm39)	I295F	probably damaging	Het
Muc21	G	A	17: 35,930,917 (GRCm39)	P1090S	unknown	Het
Mup18	G	T	4: 61,590,925 (GRCm39)		probably null	Het
Myo1h	G	T	5: 114,474,372 (GRCm39)		probably null	Het
Nap1l5	C	T	6: 58,883,505 (GRCm39)	G52S	probably damaging	Het
Npr3	A	G	15: 11,883,448 (GRCm39)	F327S	probably damaging	Het
Nrxn2	C	A	19: 6,582,083 (GRCm39)	Q1673K	possibly damaging	Het
Or13a20	G	T	7: 140,232,814 (GRCm39)	L307F	probably benign	Het
Or2r3	T	A	6: 42,449,100 (GRCm39)	D4V	probably benign	Het
Paf1	T	C	7: 28,096,072 (GRCm39)	Y260H	probably damaging	Het
Pcmtd2	T	C	2: 181,496,776 (GRCm39)	I251T	probably damaging	Het
Pde9a	C	T	17: 31,678,941 (GRCm39)	Q261*	probably null	Het
Ppip5k1	T	C	2: 121,177,811 (GRCm39)	D332G	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ppp1r36	A	G	12: 76,474,923 (GRCm39)		probably null	Het
Pprc1	T	C	19: 46,049,888 (GRCm39)	L67P	unknown	Het
Prkdc	T	G	16: 15,526,767 (GRCm39)	L1346R	probably damaging	Het
Prl7c1	A	T	13: 27,962,070 (GRCm39)	M79K	possibly damaging	Het
Ptprb	C	T	10: 116,205,362 (GRCm39)		probably null	Het
R3hdm1	T	A	1: 128,096,703 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,744,663 (GRCm39)	V1276A	probably benign	Het
Rapsn	T	C	2: 90,875,300 (GRCm39)	L361P	probably benign	Het
Rsph3a	A	G	17: 8,164,940 (GRCm39)	Y100C	probably damaging	Het
Rsrp1	A	T	4: 134,651,274 (GRCm39)	M13L	unknown	Het
Rtn4	T	G	11: 29,655,536 (GRCm39)	D169E	probably damaging	Het
Setd7	C	A	3: 51,444,077 (GRCm39)		probably null	Het
Slc38a2	A	G	15: 96,591,466 (GRCm39)	I206T	probably damaging	Het
Slc9a8	T	C	2: 167,307,278 (GRCm39)	F321L	probably benign	Het
Sppl2c	A	G	11: 104,077,956 (GRCm39)	D252G	possibly damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
Syne2	A	G	12: 76,082,397 (GRCm39)	T117A	probably damaging	Het
Szt2	A	T	4: 118,260,110 (GRCm39)	F79I	possibly damaging	Het
Tlr3	T	A	8: 45,850,090 (GRCm39)	K860*	probably null	Het
Ttn	T	C	2: 76,625,018 (GRCm39)	S15187G	probably benign	Het
Ubr5	A	G	15: 38,041,817 (GRCm39)	V204A	probably benign	Het
Unc5c	A	T	3: 141,476,922 (GRCm39)	T363S	possibly damaging	Het
Usp40	G	A	1: 87,906,201 (GRCm39)	T678I	possibly damaging	Het
Vmn1r62	A	T	7: 5,678,609 (GRCm39)	T97S	probably damaging	Het
Vmn1r85	T	A	7: 12,818,448 (GRCm39)	H232L	probably benign	Het
Vmn2r67	A	G	7: 84,785,920 (GRCm39)	I695T	probably damaging	Het
Zfp383	C	A	7: 29,611,626 (GRCm39)	D35E	probably damaging	Het
Zfp65	A	T	13: 67,877,174 (GRCm39)		probably null	Het
Zfp692	A	G	11: 58,205,062 (GRCm39)	K437R	probably damaging	Het
Zfp831	A	T	2: 174,488,921 (GRCm39)	T1199S	possibly damaging	Het
Zfr	T	A	15: 12,146,463 (GRCm39)	I338N	probably 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
R9479:Rbm22	UTSW	18	60,699,492 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTACAGACAAGGACACGTG -3'
(R):5'- GACCTAAAGATTTGTAAAGGCCC -3'

Sequencing Primer
(F):5'- ACAAGGACACGTGTCTCCGTG -3'
(R):5'- GATTTGTAAAGGCCCCACCAG -3'

Posted On

2019-12-20