Mutagenetix > Incidental Mutation

Incidental Mutation 'RF011:Rbm33'

603198

Institutional Source

Beutler Lab

Gene Symbol

Rbm33

Ensembl Gene

ENSMUSG00000048271

Gene Name

RNA binding motif protein 33

Synonyms

6430512A10Rik, 3200001K10Rik, Prr8

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF011 (G1)

Quality Score

162.492

Status

Not validated

Chromosome

Chromosomal Location

28317121-28419239 bp(+) (GRCm38)

Type of Mutation

small deletion (2 aa in frame mutation)

DNA Base Change (assembly)

CCAGCCGCAGC to CCAGC at 28394181 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059644] [ENSMUST00000114884]

AlphaFold

Q9CXK9

Predicted Effect

probably benign
Transcript: ENSMUST00000059644

SMART Domains

Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	36	55	N/A	INTRINSIC
low complexity region	59	81	N/A	INTRINSIC
low complexity region	109	124	N/A	INTRINSIC
low complexity region	191	202	N/A	INTRINSIC
low complexity region	241	253	N/A	INTRINSIC
low complexity region	282	301	N/A	INTRINSIC
low complexity region	307	327	N/A	INTRINSIC
low complexity region	362	407	N/A	INTRINSIC
low complexity region	444	460	N/A	INTRINSIC
low complexity region	625	707	N/A	INTRINSIC
low complexity region	817	837	N/A	INTRINSIC
coiled coil region	846	891	N/A	INTRINSIC
RRM	1160	1227	1.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114884

SMART Domains

Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	36	55	N/A	INTRINSIC
low complexity region	59	81	N/A	INTRINSIC
low complexity region	109	124	N/A	INTRINSIC
low complexity region	201	213	N/A	INTRINSIC
low complexity region	242	261	N/A	INTRINSIC
low complexity region	267	287	N/A	INTRINSIC
low complexity region	322	367	N/A	INTRINSIC
low complexity region	404	420	N/A	INTRINSIC
low complexity region	585	667	N/A	INTRINSIC
low complexity region	777	797	N/A	INTRINSIC
coiled coil region	806	851	N/A	INTRINSIC
RRM	1120	1187	4.7e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144967

SMART Domains

Protein: ENSMUSP00000121879
Gene: ENSMUSG00000048271

Domain	Start	End	E-Value	Type
RRM	119	186	1.12e-3	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,743,609	K672R	possibly damaging	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569		probably benign	Het
A030005L19Rik	TGGCTGCTG	TGGCTGCTGGGGCTGCTG	1: 82,913,573		probably benign	Het
A030005L19Rik	TGCTG	TGCTGTGGCGGCTG	1: 82,913,586		probably benign	Het
AI837181	GCG	GCGTCG	19: 5,425,236		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,643,571		probably benign	Het
Aqp2	T	C	15: 99,583,872	S216P	probably damaging	Het
Cacna1f	GGA	GGAAGA	X: 7,620,056		probably benign	Het
Ccdc170	CCA	CCAGCA	10: 4,561,018		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cela2a	T	C	4: 141,821,715	N117D	probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,500,848		probably benign	Het
Cyb5r2	A	T	7: 107,751,168	S235R	probably benign	Het
Dnmt1	CACAGTTCCTACCTCGTT	CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT	9: 20,910,128		probably null	Het
Dnmt1	TT	TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT	9: 20,910,144		probably null	Het
E4f1	CCG	CCGTCG	17: 24,455,186		probably benign	Het
Fam171b	TCCAGCA	TCCAGCACCAGCA	2: 83,812,873		probably benign	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,271,316		probably benign	Het
Fkbp1a	GCCGCCGCCA	G	2: 151,542,699		probably null	Het
Flii	G	A	11: 60,716,243	A969V	probably benign	Het
Fscb	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	12: 64,472,994		probably benign	Het
Gas1	G	GAAA	13: 60,176,531		probably benign	Het
Grip1	A	G	10: 119,931,315	D115G	probably null	Het
Guca2b	G	T	4: 119,656,847	T89N	possibly damaging	Het
Hcn4	T	A	9: 58,859,915	S920T	unknown	Het
Heatr1	A	G	13: 12,407,544	M484V	probably benign	Het
Iba57	G	T	11: 59,163,612	A27E	probably benign	Het
Ifi207	G	C	1: 173,729,121	L684V	not run	Het
Ints13	T	C	6: 146,556,240	H380R	probably damaging	Het
Jmjd1c	C	T	10: 67,220,199	T466I	possibly damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Kif12	C	CCTCCACCCGGCGGGG	4: 63,171,427		probably benign	Het
Kmt2c	A	T	5: 25,338,459	D1399E	probably damaging	Het
Macf1	A	T	4: 123,473,855	L2371Q	probably damaging	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,273,610		probably benign	Het
Med12l	GCA	GCATCA	3: 59,275,980		probably benign	Het
Mgam	C	A	6: 40,757,436	Q1472K	probably damaging	Het
Mup21	TATACTT	TATACTTTTTAGATACTT	4: 62,149,345		probably benign	Het
Nipal1	A	G	5: 72,666,813	N167D	probably damaging	Het
Olfr1105	T	A	2: 87,034,041	Y60F	probably damaging	Het
Olfr1426	C	T	19: 12,088,247	V182I	probably benign	Het
Osbpl3	CCTGCA	C	6: 50,348,138		probably benign	Het
Phf20	CCCCCCCCC	CCCCCCCCCCCCCCCC	2: 156,304,620		probably benign	Het
Phf20	CCCCCCCC	CCCCCCCCCCCCCCC	2: 156,304,621		probably benign	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rubcnl	T	C	14: 75,044,438	F445S	probably damaging	Het
S100a10	TTTTTTTA	T	3: 93,564,234		probably benign	Het
Sbp	AA	AAAATGCTGACAACGGA	17: 23,945,354		probably benign	Het
Sec14l3	A	C	11: 4,067,963	Q81P	possibly damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,343		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,368		probably benign	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,836,957		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,835,739		probably benign	Het
Tmem28	CGCCGC	CGCCGCAGCCGC	X: 99,821,361		probably benign	Het
Tox2	A	G	2: 163,225,564	I68V	probably benign	Het
Triml2	G	T	8: 43,183,164		probably benign	Het
Tspan33	A	G	6: 29,716,730	Y162C	probably damaging	Het
Zfp384	GGCCCAGGCCCA	GGCCCAGGCCCAAGCCCAGGCCCA	6: 125,036,476		probably benign	Het
Zfp948	T	C	17: 21,588,312	Y589H	probably damaging	Het
Zic1	T	C	9: 91,364,330	I230V	probably benign	Het

Other mutations in Rbm33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Rbm33	APN	5	28410709	missense	probably damaging	0.98
IGL01470:Rbm33	APN	5	28387848	missense	probably damaging	1.00
IGL01565:Rbm33	APN	5	28391079	unclassified	probably benign
IGL02119:Rbm33	APN	5	28339017	missense	probably damaging	1.00
IGL02740:Rbm33	APN	5	28331123	missense	probably damaging	1.00
IGL02869:Rbm33	APN	5	28410755	missense	probably damaging	0.99
IGL03355:Rbm33	APN	5	28391061	unclassified	probably benign
IGL03381:Rbm33	APN	5	28394392	missense	unknown
FR4449:Rbm33	UTSW	5	28394168	small deletion	probably benign
FR4548:Rbm33	UTSW	5	28394201	small deletion	probably benign
R0091:Rbm33	UTSW	5	28352606	missense	possibly damaging	0.94
R0725:Rbm33	UTSW	5	28394483	missense	unknown
R1522:Rbm33	UTSW	5	28337004	missense	probably damaging	1.00
R1918:Rbm33	UTSW	5	28387917	missense	probably damaging	1.00
R2186:Rbm33	UTSW	5	28394230	missense	unknown
R2448:Rbm33	UTSW	5	28342417	missense	probably benign	0.01
R4151:Rbm33	UTSW	5	28387940	missense	probably damaging	1.00
R4685:Rbm33	UTSW	5	28408282	unclassified	probably benign
R4787:Rbm33	UTSW	5	28342437	splice site	probably null
R4954:Rbm33	UTSW	5	28339276	missense	probably damaging	1.00
R5013:Rbm33	UTSW	5	28342411	missense	probably benign	0.05
R5141:Rbm33	UTSW	5	28352689	missense	probably damaging	1.00
R5248:Rbm33	UTSW	5	28337052	critical splice donor site	probably null
R5259:Rbm33	UTSW	5	28352774	splice site	probably null
R5695:Rbm33	UTSW	5	28339012	missense	probably damaging	1.00
R5790:Rbm33	UTSW	5	28339298	missense	probably damaging	1.00
R6591:Rbm33	UTSW	5	28352546	missense	probably damaging	0.99
R6668:Rbm33	UTSW	5	28342500	missense	probably benign	0.01
R6691:Rbm33	UTSW	5	28352546	missense	probably damaging	0.99
R6930:Rbm33	UTSW	5	28352506	missense	probably benign	0.09
R6931:Rbm33	UTSW	5	28410745	missense	probably damaging	1.00
R7034:Rbm33	UTSW	5	28394498	missense	unknown
R7056:Rbm33	UTSW	5	28394003	unclassified	probably benign
R7224:Rbm33	UTSW	5	28394324	missense
R7579:Rbm33	UTSW	5	28368266	missense	probably damaging	1.00
R7839:Rbm33	UTSW	5	28368399	splice site	probably null
R7961:Rbm33	UTSW	5	28394608	missense
R8009:Rbm33	UTSW	5	28394608	missense
R8051:Rbm33	UTSW	5	28352625	missense	probably damaging	0.99
R8265:Rbm33	UTSW	5	28394324	missense
R8461:Rbm33	UTSW	5	28387972	missense	probably damaging	1.00
R8734:Rbm33	UTSW	5	28352876	intron	probably benign
R9206:Rbm33	UTSW	5	28352586	missense	probably damaging	1.00
R9233:Rbm33	UTSW	5	28339241	missense	probably benign	0.00
R9376:Rbm33	UTSW	5	28339166	missense	probably damaging	1.00
R9731:Rbm33	UTSW	5	28339244	missense	probably damaging	1.00
RF026:Rbm33	UTSW	5	28394181	small deletion	probably benign
RF047:Rbm33	UTSW	5	28394162	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTGAAATGGCCACCCTACCAC -3'
(R):5'- AACGCTAGCAGTGGTGATGTC -3'

Sequencing Primer
(F):5'- AGCAAAGTGAACTGTGTTTTCC -3'
(R):5'- TCTTGGTTTTTAACAAGAAGTCTGG -3'

Posted On

2019-12-04