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

3200001K10Rik, 6430512A10Rik, Prr8

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF011 (G1)

Quality Score

162.492

Status

Not validated

Chromosome

Chromosomal Location

28522119-28624237 bp(+) (GRCm39)

Type of Mutation

small deletion (2 aa in frame mutation)

DNA Base Change (assembly)

CCAGCCGCAGC to CCAGC at 28599179 bp (GRCm39)

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
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,891,290 (GRCm39)		probably benign	Het
A030005L19Rik	TGCTG	TGCTGTGGCGGCTG	1: 82,891,307 (GRCm39)		probably benign	Het
A030005L19Rik	TGGCTGCTG	TGGCTGCTGGGGCTGCTG	1: 82,891,294 (GRCm39)		probably benign	Het
AI837181	GCG	GCGTCG	19: 5,475,264 (GRCm39)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,479,405 (GRCm39)		probably benign	Het
Aqp2	T	C	15: 99,481,753 (GRCm39)	S216P	probably damaging	Het
Brd10	T	C	19: 29,721,009 (GRCm39)	K672R	possibly damaging	Het
Cacna1f	GGA	GGAAGA	X: 7,486,295 (GRCm39)		probably benign	Het
Ccdc170	CCA	CCAGCA	10: 4,511,018 (GRCm39)		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,619,810 (GRCm39)		probably benign	Het
Cela2a	T	C	4: 141,549,026 (GRCm39)	N117D	probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,811,774 (GRCm39)		probably benign	Het
Cyb5r2	A	T	7: 107,350,375 (GRCm39)	S235R	probably benign	Het
Dnmt1	CACAGTTCCTACCTCGTT	CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT	9: 20,821,424 (GRCm39)		probably null	Het
Dnmt1	TT	TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT	9: 20,821,440 (GRCm39)		probably null	Het
E4f1	CCG	CCGTCG	17: 24,674,160 (GRCm39)		probably benign	Het
Fam171b	TCCAGCA	TCCAGCACCAGCA	2: 83,643,217 (GRCm39)		probably benign	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,419,435 (GRCm39)		probably benign	Het
Fkbp1a	GCCGCCGCCA	G	2: 151,384,619 (GRCm39)		probably null	Het
Flii	G	A	11: 60,607,069 (GRCm39)	A969V	probably benign	Het
Fscb	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	12: 64,519,768 (GRCm39)		probably benign	Het
Gas1	G	GAAA	13: 60,324,345 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,767,220 (GRCm39)	D115G	probably null	Het
Guca2b	G	T	4: 119,514,044 (GRCm39)	T89N	possibly damaging	Het
Hcn4	T	A	9: 58,767,198 (GRCm39)	S920T	unknown	Het
Heatr1	A	G	13: 12,422,425 (GRCm39)	M484V	probably benign	Het
Iba57	G	T	11: 59,054,438 (GRCm39)	A27E	probably benign	Het
Ifi207	G	C	1: 173,556,687 (GRCm39)	L684V	not run	Het
Ints13	T	C	6: 146,457,738 (GRCm39)	H380R	probably damaging	Het
Jmjd1c	C	T	10: 67,055,978 (GRCm39)	T466I	possibly damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Kif12	C	CCTCCACCCGGCGGGG	4: 63,089,664 (GRCm39)		probably benign	Het
Kmt2c	A	T	5: 25,543,457 (GRCm39)	D1399E	probably damaging	Het
Macf1	A	T	4: 123,367,648 (GRCm39)	L2371Q	probably damaging	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,406,681 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,401 (GRCm39)		probably benign	Het
Mgam	C	A	6: 40,734,370 (GRCm39)	Q1472K	probably damaging	Het
Mup21	TATACTT	TATACTTTTTAGATACTT	4: 62,067,582 (GRCm39)		probably benign	Het
Nalf2	CGCCGC	CGCCGCAGCCGC	X: 98,864,967 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,824,156 (GRCm39)	N167D	probably damaging	Het
Or4d10c	C	T	19: 12,065,611 (GRCm39)	V182I	probably benign	Het
Or5be3	T	A	2: 86,864,385 (GRCm39)	Y60F	probably damaging	Het
Osbpl3	CCTGCA	C	6: 50,325,118 (GRCm39)		probably benign	Het
Phf20	CCCCCCCCC	CCCCCCCCCCCCCCCC	2: 156,146,540 (GRCm39)		probably benign	Het
Phf20	CCCCCCCC	CCCCCCCCCCCCCCC	2: 156,146,541 (GRCm39)		probably benign	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,756,780 (GRCm39)		probably benign	Het
Rubcnl	T	C	14: 75,281,878 (GRCm39)	F445S	probably damaging	Het
S100a10	TTTTTTTA	T	3: 93,471,541 (GRCm39)		probably benign	Het
Sbp	AA	AAAATGCTGACAACGGA	17: 24,164,328 (GRCm39)		probably benign	Het
Sec14l3	A	C	11: 4,017,963 (GRCm39)	Q81P	possibly damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,515 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,796 (GRCm39)		probably benign	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,825,401 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,968,811 (GRCm39)		probably benign	Het
Tox2	A	G	2: 163,067,484 (GRCm39)	I68V	probably benign	Het
Triml2	G	T	8: 43,636,201 (GRCm39)		probably benign	Het
Tspan33	A	G	6: 29,716,729 (GRCm39)	Y162C	probably damaging	Het
Zfp384	GGCCCAGGCCCA	GGCCCAGGCCCAAGCCCAGGCCCA	6: 125,013,439 (GRCm39)		probably benign	Het
Zfp948	T	C	17: 21,808,574 (GRCm39)	Y589H	probably damaging	Het
Zic1	T	C	9: 91,246,383 (GRCm39)	I230V	probably benign	Het

Other mutations in Rbm33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Rbm33	APN	5	28,615,707 (GRCm39)	missense	probably damaging	0.98
IGL01470:Rbm33	APN	5	28,592,846 (GRCm39)	missense	probably damaging	1.00
IGL01565:Rbm33	APN	5	28,596,077 (GRCm39)	unclassified	probably benign
IGL02119:Rbm33	APN	5	28,544,015 (GRCm39)	missense	probably damaging	1.00
IGL02740:Rbm33	APN	5	28,536,121 (GRCm39)	missense	probably damaging	1.00
IGL02869:Rbm33	APN	5	28,615,753 (GRCm39)	missense	probably damaging	0.99
IGL03355:Rbm33	APN	5	28,596,059 (GRCm39)	unclassified	probably benign
IGL03381:Rbm33	APN	5	28,599,390 (GRCm39)	missense	unknown
FR4449:Rbm33	UTSW	5	28,599,166 (GRCm39)	small deletion	probably benign
FR4548:Rbm33	UTSW	5	28,599,199 (GRCm39)	small deletion	probably benign
R0091:Rbm33	UTSW	5	28,557,604 (GRCm39)	missense	possibly damaging	0.94
R0725:Rbm33	UTSW	5	28,599,481 (GRCm39)	missense	unknown
R1522:Rbm33	UTSW	5	28,542,002 (GRCm39)	missense	probably damaging	1.00
R1918:Rbm33	UTSW	5	28,592,915 (GRCm39)	missense	probably damaging	1.00
R2186:Rbm33	UTSW	5	28,599,228 (GRCm39)	missense	unknown
R2448:Rbm33	UTSW	5	28,547,415 (GRCm39)	missense	probably benign	0.01
R4151:Rbm33	UTSW	5	28,592,938 (GRCm39)	missense	probably damaging	1.00
R4685:Rbm33	UTSW	5	28,613,280 (GRCm39)	unclassified	probably benign
R4787:Rbm33	UTSW	5	28,547,435 (GRCm39)	splice site	probably null
R4954:Rbm33	UTSW	5	28,544,274 (GRCm39)	missense	probably damaging	1.00
R5013:Rbm33	UTSW	5	28,547,409 (GRCm39)	missense	probably benign	0.05
R5141:Rbm33	UTSW	5	28,557,687 (GRCm39)	missense	probably damaging	1.00
R5248:Rbm33	UTSW	5	28,542,050 (GRCm39)	critical splice donor site	probably null
R5259:Rbm33	UTSW	5	28,557,772 (GRCm39)	splice site	probably null
R5695:Rbm33	UTSW	5	28,544,010 (GRCm39)	missense	probably damaging	1.00
R5790:Rbm33	UTSW	5	28,544,296 (GRCm39)	missense	probably damaging	1.00
R6591:Rbm33	UTSW	5	28,557,544 (GRCm39)	missense	probably damaging	0.99
R6668:Rbm33	UTSW	5	28,547,498 (GRCm39)	missense	probably benign	0.01
R6691:Rbm33	UTSW	5	28,557,544 (GRCm39)	missense	probably damaging	0.99
R6930:Rbm33	UTSW	5	28,557,504 (GRCm39)	missense	probably benign	0.09
R6931:Rbm33	UTSW	5	28,615,743 (GRCm39)	missense	probably damaging	1.00
R7034:Rbm33	UTSW	5	28,599,496 (GRCm39)	missense	unknown
R7056:Rbm33	UTSW	5	28,599,001 (GRCm39)	unclassified	probably benign
R7224:Rbm33	UTSW	5	28,599,322 (GRCm39)	missense
R7579:Rbm33	UTSW	5	28,573,264 (GRCm39)	missense	probably damaging	1.00
R7839:Rbm33	UTSW	5	28,573,397 (GRCm39)	splice site	probably null
R7961:Rbm33	UTSW	5	28,599,606 (GRCm39)	missense
R8009:Rbm33	UTSW	5	28,599,606 (GRCm39)	missense
R8051:Rbm33	UTSW	5	28,557,623 (GRCm39)	missense	probably damaging	0.99
R8265:Rbm33	UTSW	5	28,599,322 (GRCm39)	missense
R8461:Rbm33	UTSW	5	28,592,970 (GRCm39)	missense	probably damaging	1.00
R8734:Rbm33	UTSW	5	28,557,874 (GRCm39)	intron	probably benign
R9206:Rbm33	UTSW	5	28,557,584 (GRCm39)	missense	probably damaging	1.00
R9233:Rbm33	UTSW	5	28,544,239 (GRCm39)	missense	probably benign	0.00
R9376:Rbm33	UTSW	5	28,544,164 (GRCm39)	missense	probably damaging	1.00
R9731:Rbm33	UTSW	5	28,544,242 (GRCm39)	missense	probably damaging	1.00
RF026:Rbm33	UTSW	5	28,599,179 (GRCm39)	small deletion	probably benign
RF047:Rbm33	UTSW	5	28,599,160 (GRCm39)	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