Mutagenetix > Incidental Mutation

Incidental Mutation 'R7224:Rbm33'

562014

Institutional Source

Beutler Lab

Gene Symbol

Rbm33

Ensembl Gene

ENSMUSG00000048271

Gene Name

RNA binding motif protein 33

Synonyms

6430512A10Rik, 3200001K10Rik, Prr8

MMRRC Submission

045296-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28317121-28419239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28394324 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 90 (V90A)

Gene Model

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

AlphaFold

Q9CXK9

Predicted Effect

unknown
Transcript: ENSMUST00000059644
AA Change: V938A

SMART Domains

Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: V938A

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: V898A

SMART Domains

Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
AA Change: V898A

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: V90A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	A	G	8: 84,172,213	T577A	probably benign	Het
Aadac	C	T	3: 60,035,854	T60M	probably benign	Het
Actn4	C	T	7: 28,962,084	A34T	probably benign	Het
Acvrl1	A	G	15: 101,143,364	M466V	probably benign	Het
Adamts7	T	C	9: 90,185,815	Y453H	probably damaging	Het
Amfr	G	A	8: 93,984,856	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,539,727	T492M	probably benign	Het
Anxa6	A	G	11: 54,986,167	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,080,927	Y394D	unknown	Het
Atic	G	A	1: 71,570,855	V342I	probably benign	Het
Atl1	C	A	12: 69,955,353	T362N	probably benign	Het
Atp10a	A	T	7: 58,797,471	M654L	probably benign	Het
B3gnt5	A	T	16: 19,769,753	M241L	probably benign	Het
Bbs7	A	G	3: 36,605,728	V186A	possibly damaging	Het
C8b	T	C	4: 104,780,598	L89P	probably damaging	Het
Capn7	G	T	14: 31,370,721	E742*	probably null	Het
Ccdc162	G	A	10: 41,561,191	R1741C	probably damaging	Het
Chsy3	T	A	18: 59,408,975	L395H	probably damaging	Het
Cnot9	A	G	1: 74,517,229	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Cyp2d12	T	A	15: 82,557,648		probably null	Het
Dnah7a	A	G	1: 53,397,261	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,617,762	G533D	possibly damaging	Het
Elfn1	A	G	5: 139,972,473	S411G	probably benign	Het
Enpp3	T	C	10: 24,776,884	D725G	possibly damaging	Het
Epp13	T	G	7: 6,268,802	M77R	probably benign	Het
Fmnl1	T	C	11: 103,182,769		probably null	Het
Fndc8	T	C	11: 82,892,325	M44T	probably benign	Het
Gcgr	A	T	11: 120,534,712		probably benign	Het
Ggt1	T	A	10: 75,574,276	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,403,725	I198M	unknown	Het
Gm28710	T	C	5: 16,836,594	V615A	possibly damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Gm6034	T	A	17: 36,056,439	S59T	unknown	Het
Gm6408	G	A	5: 146,484,370	V270I	probably benign	Het
Gm853	C	G	4: 130,219,199	A135P	probably damaging	Het
Gpr20	A	T	15: 73,696,132	I136N	probably damaging	Het
Ide	T	C	19: 37,290,761	E565G		Het
Igsf9	T	C	1: 172,494,782	S515P	probably damaging	Het
Kbtbd12	G	A	6: 88,613,983	R416*	probably null	Het
Kcnd3	A	T	3: 105,669,084	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,706,777	M265L	probably benign	Het
Klhdc1	G	A	12: 69,263,149	S275N	probably damaging	Het
Lrba	A	C	3: 86,395,246	N1871T	probably damaging	Het
Lrrk1	A	G	7: 66,332,386	V169A	probably damaging	Het
Magi1	A	G	6: 93,683,089	I1175T	probably benign	Het
Man1a2	T	C	3: 100,582,053	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,810,002	N129S	probably damaging	Het
Mup5	G	A	4: 61,832,385	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,658,396	R216C	probably damaging	Het
Neb	T	C	2: 52,334,659		probably null	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr553	A	T	7: 102,614,767	M74K	probably damaging	Het
Olfr76	T	C	19: 12,120,548	T55A	probably benign	Het
Olfr875	G	A	9: 37,773,415	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,275,011	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,469,075	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,945,241	L623P		Het
Plxdc1	T	C	11: 97,932,327	T363A	possibly damaging	Het
Pole3	T	C	4: 62,524,050	D111G	unknown	Het
R3hdm2	T	A	10: 127,458,153	L172Q	probably damaging	Het
Rcbtb1	C	G	14: 59,228,379	I390M	probably damaging	Het
Romo1	G	A	2: 156,144,375		probably benign	Het
Sars	A	G	3: 108,428,203	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,497,413	T327A	probably benign	Het
Slc30a5	A	G	13: 100,809,254	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,315,701	E43K	probably benign	Het
Slc38a2	A	C	15: 96,691,359	L418W	probably damaging	Het
Snx14	T	C	9: 88,394,561	E557G	possibly damaging	Het
Spata33	T	A	8: 123,221,998	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,477,403	H170L	probably damaging	Het
Trpm1	A	G	7: 64,219,106		probably null	Het
Tsr3	A	T	17: 25,242,595	E302D	probably benign	Het
Ttll11	A	G	2: 35,902,673	I386T	probably damaging	Het
Usp2	C	T	9: 44,075,969	T188M	possibly damaging	Het
Usp44	A	G	10: 93,845,993	I102V	probably benign	Het
Wasf1	A	G	10: 40,926,550	N67S	probably benign	Het
Zfp445	T	C	9: 122,852,143	N911S	probably benign	Het
Zfp467	A	G	6: 48,444,969		probably null	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
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'- TCCTGAAGCAGAAGGAACTACG -3'
(R):5'- GGTCTCCTCCATATCCATAGGTTTG -3'

Sequencing Primer
(F):5'- TACTGGAAAGGCTTGCGC -3'
(R):5'- GACCTGAAGGACTTTGTGTGGC -3'

Posted On

2019-06-26