Mutagenetix > Incidental Mutation

Incidental Mutation 'RF026:Rbm33'

604165

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 #

RF026 (G1)

Quality Score

150.593

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: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
AI837181	GCG	GCGTCG	19: 5,475,252 (GRCm39)	probably benign	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,965 (GRCm39)	probably benign	Het
Cacna1f	GA	GAGTA	X: 7,486,314 (GRCm39)	probably null	Het
Cox7a2l	GGA	GGATGGGGA	17: 83,810,151 (GRCm39)	probably benign	Het
Cul9	CCT	CCTACT	17: 46,811,795 (GRCm39)	probably null	Het
Cyb5r4	ACACACTGCC	ACACACTGCCTAGGGATGTGACAGCCACACTGCC	9: 86,922,486 (GRCm39)	probably benign	Het
Foxd3	GGACCCTACGGCCG	GG	4: 99,545,633 (GRCm39)	probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,596 (GRCm39)	probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,629 (GRCm39)	probably benign	Het
Hsdl2	GCAG	GCAGCAGCAGCCACAGCTACAG	4: 59,610,655 (GRCm39)	probably benign	Het
Kmt2e	TTT	TTTTGTT	5: 23,683,507 (GRCm39)	probably benign	Het
Krtap28-10	CACAGC	CACAGCAACAGC	1: 83,019,847 (GRCm39)	probably benign	Het
Lce1m	CCACTGCTGCT	CCACTGCTGCTTTCACTGCTGCT	3: 92,925,445 (GRCm39)	probably benign	Het
Lce1m	GCTGCTGCCAC	GCTGCTGCCACTTCTGCTGCCAC	3: 92,925,450 (GRCm39)	probably benign	Het
Mrgprx1	GAAC	GAACAAC	7: 47,671,257 (GRCm39)	probably benign	Het
Nusap1	GCTG	GCTGGGATACACGTTAGCAGTGAGGAGCAATCTG	2: 119,458,085 (GRCm39)	probably benign	Het
Nusap1	GCAGTGAGGAGCAAGCTGAGA	GCAGTGAGGAGCAAGCTGAGATACACGTTATCAGTGAGGAGCAAGCTGAGA	2: 119,458,071 (GRCm39)	probably benign	Het
Pdik1l	CCCA	CCCACCA	4: 134,013,905 (GRCm39)	probably benign	Het
Supt20	T	TACAGCA	3: 54,635,068 (GRCm39)	probably benign	Het
Supt20	CA	CAGCAGTA	3: 54,635,091 (GRCm39)	probably null	Het
Trav15-2-dv6-2	G	GAAT	14: 53,887,214 (GRCm39)	probably benign	Het
Yipf3	AGAGGA	AGA	17: 46,559,898 (GRCm39)	probably benign	Het
Zfp384	CAGGC	CAGGCCCATGCCAAGGC	6: 125,013,455 (GRCm39)	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
RF011: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'- AGCAAAGTGAACTGTGTTTTCC -3'
(R):5'- GAACGCTAGCAGTGGTGATG -3'

Sequencing Primer
(F):5'- TAGTTTCCTGATGAAGATGAAGAGAC -3'
(R):5'- GTCTTGGTTTTTAACAAGAAGTCTG -3'

Posted On

2019-12-04