Mutagenetix > Incidental Mutation

Incidental Mutation 'R6591:Rbm33'

524559

Institutional Source

Beutler Lab

Gene Symbol

Rbm33

Ensembl Gene

ENSMUSG00000048271

Gene Name

RNA binding motif protein 33

Synonyms

6430512A10Rik, 3200001K10Rik, Prr8

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6591 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28317121-28419239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28352546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 252 (E252D)

Ref Sequence

ENSEMBL: ENSMUSP00000062449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030920] [ENSMUST00000059644] [ENSMUST00000090355] [ENSMUST00000114884]

AlphaFold

Q9CXK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030920
AA Change: E252D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030920
Gene: ENSMUSG00000048271
AA Change: E252D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000059644
AA Change: E252D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: E252D

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

possibly damaging
Transcript: ENSMUST00000090355
AA Change: E212D

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091512
Gene: ENSMUSG00000048271
AA Change: E212D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114884
AA Change: E212D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
AA Change: E212D

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

Meta Mutation Damage Score

0.0751

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300009A05Rik	A	G	9: 63,398,954	Y90H	probably damaging	Het
Agk	A	G	6: 40,392,690	D337G	probably benign	Het
Amn	A	G	12: 111,275,397	H299R	possibly damaging	Het
Angptl4	A	G	17: 33,780,781		probably null	Het
AU040320	G	A	4: 126,836,670	M563I	possibly damaging	Het
Cachd1	T	C	4: 100,989,486	M1042T	probably benign	Het
Cd209c	T	A	8: 3,945,680	I41L	probably benign	Het
Ceacam12	T	A	7: 18,069,224	V185D	possibly damaging	Het
Chpt1	A	T	10: 88,485,900		probably benign	Het
Clca1	G	C	3: 145,013,883	A442G	probably damaging	Het
Cldn8	T	C	16: 88,562,535	I167M	possibly damaging	Het
Cln3	A	G	7: 126,579,434	V143A	possibly damaging	Het
Dusp11	T	C	6: 85,961,525	H4R	possibly damaging	Het
Ephb3	T	A	16: 21,214,473	F69Y	probably damaging	Het
Gm11099	A	T	2: 58,859,473		probably benign	Het
Grik2	A	T	10: 49,272,925	Y521*	probably null	Het
Igf2r	A	G	17: 12,689,008	L2143P	probably damaging	Het
Kcnk1	T	C	8: 126,025,231	V192A	probably benign	Het
Olfr1055	A	C	2: 86,347,419	S116A	probably damaging	Het
Olfr1254	A	T	2: 89,788,988	Y121*	probably null	Het
Parp3	A	G	9: 106,473,692	S329P	probably benign	Het
Pld3	A	T	7: 27,532,316	N483K	probably benign	Het
Ryr2	T	C	13: 11,594,723	T4406A	probably benign	Het
Sgsm3	A	G	15: 81,008,862	D380G	possibly damaging	Het
Sorl1	G	T	9: 42,002,567	D1355E	probably damaging	Het
Sptbn1	A	G	11: 30,113,984	S1945P	probably damaging	Het
Ube2m	A	T	7: 13,036,469	F70I	probably damaging	Het
Ube3b	A	G	5: 114,408,124	I664V	probably benign	Het
Ugt1a7c	A	G	1: 88,095,656	E179G	possibly damaging	Het
Vps50	T	C	6: 3,504,939		probably null	Het
Xpo1	T	C	11: 23,286,875	L718P	probably damaging	Het
Zfp354c	A	G	11: 50,814,775	I491T	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
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
RF011:Rbm33	UTSW	5	28394181	small deletion	probably benign
RF026:Rbm33	UTSW	5	28394181	small deletion	probably benign
RF047:Rbm33	UTSW	5	28394162	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTTTCACATAGCCTTTTACCAG -3'
(R):5'- TGAGCATAGCACAACTGGGC -3'

Sequencing Primer
(F):5'- ACCAGGCACTTTGAGCTGTAC -3'
(R):5'- GCACCAGCCTCACTTATACCATG -3'

Posted On

2018-06-22