Mutagenetix > Incidental Mutations

Incidental Mutation 'R7961:Rbm33'

650105

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28317121-28419239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28394608 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 185 (G185R)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000059644
AA Change: G1033R

SMART Domains

Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: G1033R

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

unknown
Transcript: ENSMUST00000114884
AA Change: G993R

SMART Domains

Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
AA Change: G993R

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

SMART Domains

Protein: ENSMUSP00000121879
Gene: ENSMUSG00000048271
AA Change: G185R

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,828,870	N751K	possibly damaging	Het
Bckdha	G	A	7: 25,631,478	R288W	probably damaging	Het
C87414	T	C	5: 93,636,684	D307G	probably damaging	Het
Ccng1	G	A	11: 40,751,269	H229Y	probably benign	Het
Cenpn	C	A	8: 116,937,237	T256N	probably benign	Het
Ciart	A	G	3: 95,881,317	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,661,458	N36S	probably damaging	Het
Cntnap1	G	A	11: 101,178,295	A192T	probably benign	Het
Dmrt1	T	A	19: 25,545,881	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,610,908	V37A	possibly damaging	Het
Dock1	T	A	7: 134,745,057	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,136,258		probably null	Het
Engase	A	G	11: 118,486,860	D571G	possibly damaging	Het
Gm45871	C	T	18: 90,591,759	H374Y	probably damaging	Het
Icam5	T	C	9: 21,038,755	V870A	possibly damaging	Het
Idh2	T	C	7: 80,098,253	H233R	probably benign	Het
Kcna5	A	G	6: 126,533,554	L537P	probably benign	Het
Krt71	T	C	15: 101,735,442	I454V	probably damaging	Het
Krtap5-4	C	T	7: 142,303,934	Q114*	probably null	Het
Loxl3	T	C	6: 83,050,809	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,511,379	T420I	probably damaging	Het
Mia2	T	A	12: 59,159,639		probably null	Het
Neurod4	A	T	10: 130,270,487	V306D	possibly damaging	Het
Nkiras2	A	T	11: 100,619,802		probably benign	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,453,328	D408V	probably benign	Het
Nubpl	T	A	12: 52,181,297	L168*	probably null	Het
Odf1	A	G	15: 38,226,596	I247V	unknown	Het
Olfr1170	C	A	2: 88,224,689	M114I	possibly damaging	Het
Olfr1260	A	G	2: 89,977,787	Q3R	probably benign	Het
Olfr1298	G	A	2: 111,645,937	S20F	probably damaging	Het
Pcsk1	T	C	13: 75,126,839	S516P	probably benign	Het
Pikfyve	A	G	1: 65,255,134	D1411G	probably damaging	Het
Polm	T	C	11: 5,830,155	D294G	possibly damaging	Het
Ppcs	A	T	4: 119,419,065	S281T	probably benign	Het
Pspc1	G	A	14: 56,771,847	Q177*	probably null	Het
Satb2	A	G	1: 56,871,758	S243P	probably benign	Het
Serinc5	T	C	13: 92,661,191		probably null	Het
Sgsm1	T	C	5: 113,282,644	T292A	probably damaging	Het
Smad3	G	A	9: 63,650,282	R420C	possibly damaging	Het
Sntg1	C	T	1: 8,363,570	V486I	probably damaging	Het
Tep1	A	G	14: 50,824,230	S2610P	possibly damaging	Het
Tmem200a	A	G	10: 25,994,006	S122P	probably damaging	Het
Tnks2	T	A	19: 36,852,501	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,078,767	Q28P	probably damaging	Het
Trpm5	T	C	7: 143,080,369	E700G	probably benign	Het
Ubqln3	T	A	7: 104,142,590	I98L	probably benign	Het
Usp25	A	G	16: 77,059,262	I248V	probably damaging	Het
Vmn1r28	T	C	6: 58,265,193	V7A	probably benign	Het
Zfp60	G	A	7: 27,748,456	G183D	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
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
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'- TGCAGCATCAAGGGCAACAC -3'
(R):5'- GCAGCTGAGACAATATGGGTTC -3'

Sequencing Primer
(F):5'- CTTGAGACCATTGAAGCATCTGC -3'
(R):5'- GCTGAGACAATATGGGTTCATATAG -3'

Posted On

2020-09-15