Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Rbm33'

362440

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

28522119-28624237 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28615753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 32 (I32N)

Ref Sequence

ENSEMBL: ENSMUSP00000122901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059644] [ENSMUST00000114884] [ENSMUST00000133313]

AlphaFold

Q9CXK9

Predicted Effect

unknown
Transcript: ENSMUST00000059644
AA Change: I1185N

SMART Domains

Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: I1185N

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: I1145N

SMART Domains

Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
AA Change: I1145N

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 damaging
Transcript: ENSMUST00000133313
AA Change: I32N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122901
Gene: ENSMUSG00000048271
AA Change: I32N

Domain	Start	End	E-Value	Type
Pfam:RRM_1	8	65	3.2e-6	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000144967
AA Change: I336N

SMART Domains

Protein: ENSMUSP00000121879
Gene: ENSMUSG00000048271
AA Change: I336N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,685,323 (GRCm39)	S1142T	possibly damaging	Het
Aadacl4fm5	T	C	4: 144,512,938 (GRCm39)	I54V	probably benign	Het
Actr3b	T	G	5: 26,037,433 (GRCm39)	V215G	probably damaging	Het
Adam9	C	T	8: 25,460,634 (GRCm39)	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,596,241 (GRCm39)	P32T	probably damaging	Het
Afg2a	G	T	3: 37,518,694 (GRCm39)	G743W	probably damaging	Het
Ago3	A	T	4: 126,261,580 (GRCm39)		probably benign	Het
Allc	A	C	12: 28,623,206 (GRCm39)	I20M	probably benign	Het
Asic3	G	A	5: 24,621,972 (GRCm39)	W361*	probably null	Het
Atf7ip	A	G	6: 136,583,577 (GRCm39)	K1203E	probably damaging	Het
Babam2	C	A	5: 32,162,116 (GRCm39)	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,807,872 (GRCm39)	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,747,590 (GRCm39)	Y146*	probably null	Het
Cd247	A	G	1: 165,684,986 (GRCm39)	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908 (GRCm39)	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,175,966 (GRCm39)	D76G	probably benign	Het
Cela3a	T	C	4: 137,131,145 (GRCm39)	K198E	probably benign	Het
Cemip2	T	A	19: 21,789,241 (GRCm39)	D558E	probably damaging	Het
Ces2a	T	A	8: 105,465,691 (GRCm39)	D281E	probably damaging	Het
Cetn2	A	T	X: 71,958,527 (GRCm39)	D116E	probably damaging	Het
Cracd	A	G	5: 77,006,890 (GRCm39)	K1084E	unknown	Het
Ctu2	G	T	8: 123,205,530 (GRCm39)		probably null	Het
Cybb	T	C	X: 9,308,828 (GRCm39)	N469D	probably benign	Het
Cygb	C	T	11: 116,540,749 (GRCm39)	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,288,069 (GRCm39)	V186M	possibly damaging	Het
Defb29	T	A	2: 152,380,942 (GRCm39)		probably null	Het
Depdc7	T	G	2: 104,560,694 (GRCm39)	Q100P	probably damaging	Het
Dhx30	A	C	9: 109,926,251 (GRCm39)	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,159,288 (GRCm39)	K105*	probably null	Het
Eddm13	T	C	7: 6,272,898 (GRCm39)		probably benign	Het
Efhc1	T	C	1: 21,037,567 (GRCm39)	I248T	probably damaging	Het
Elapor1	A	G	3: 108,380,182 (GRCm39)	I309T	probably benign	Het
Entpd2	A	G	2: 25,288,120 (GRCm39)	T115A	probably damaging	Het
Epb42	G	T	2: 120,856,227 (GRCm39)	A439E	probably benign	Het
Esm1	T	G	13: 113,346,618 (GRCm39)	L81R	probably damaging	Het
F8	T	C	X: 74,330,987 (GRCm39)	S968G	probably benign	Het
Fam234b	T	G	6: 135,202,201 (GRCm39)	Y308D	probably damaging	Het
Fbxo46	T	G	7: 18,871,139 (GRCm39)	V586G	probably damaging	Het
Foxp1	C	A	6: 98,907,044 (GRCm39)		probably benign	Het
Gm10754	A	T	10: 97,518,136 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,370 (GRCm39)		probably benign	Het
Gm5468	T	C	15: 25,414,726 (GRCm39)		probably benign	Het
Grhl1	T	C	12: 24,631,490 (GRCm39)	S66P	probably damaging	Het
Gstt3	A	T	10: 75,612,576 (GRCm39)		probably null	Het
Gtf2i	A	G	5: 134,308,281 (GRCm39)		probably benign	Het
Gzmk	C	A	13: 113,308,560 (GRCm39)	G175C	probably damaging	Het
Helz2	T	C	2: 180,872,939 (GRCm39)		probably benign	Het
Ift20	T	C	11: 78,430,780 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,642,216 (GRCm39)	D491G	probably damaging	Het
Itch	G	T	2: 155,015,853 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,665,362 (GRCm39)	N26S	possibly damaging	Het
Lama2	A	T	10: 26,891,534 (GRCm39)	S2526R	probably damaging	Het
Lat2	A	G	5: 134,637,027 (GRCm39)	I40T	probably damaging	Het
Lipa	T	A	19: 34,471,397 (GRCm39)	M393L	probably benign	Het
Lipa	G	T	19: 34,471,371 (GRCm39)		probably benign	Het
Lpcat1	T	A	13: 73,632,417 (GRCm39)	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,679,970 (GRCm39)	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,591,842 (GRCm39)	N50K	unknown	Het
Lrrk2	T	A	15: 91,634,480 (GRCm39)	Y1415N	probably damaging	Het
Lsamp	A	T	16: 41,965,078 (GRCm39)	T312S	probably benign	Het
Man2a2	T	C	7: 80,013,689 (GRCm39)	E454G	probably benign	Het
Mcm3	T	C	1: 20,879,063 (GRCm39)	K570R	probably damaging	Het
Mctp2	C	A	7: 71,878,219 (GRCm39)		probably null	Het
Msantd2	T	G	9: 37,434,796 (GRCm39)	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078 (GRCm39)	I362T	probably benign	Het
Myh15	A	T	16: 48,965,767 (GRCm39)	N1224I	probably benign	Het
Myo18a	A	G	11: 77,755,612 (GRCm39)	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,720,699 (GRCm39)		probably benign	Het
Myrfl	G	T	10: 116,664,909 (GRCm39)	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,818,346 (GRCm39)	Q87H	probably benign	Het
Nol9	G	A	4: 152,131,030 (GRCm39)	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,598,141 (GRCm39)	S219P	probably benign	Het
Or8b43	T	C	9: 38,360,489 (GRCm39)	F107S	possibly damaging	Het
Or8g28	A	T	9: 39,169,520 (GRCm39)	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,631,690 (GRCm39)	D495G	probably damaging	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Plec	A	T	15: 76,065,516 (GRCm39)	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,843,005 (GRCm39)	E47*	probably null	Het
Rgs12	A	T	5: 35,183,227 (GRCm39)	D310V	probably damaging	Het
Ripor2	A	C	13: 24,880,512 (GRCm39)	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,056,034 (GRCm39)	E124G	probably benign	Het
Shroom2	C	T	X: 151,442,549 (GRCm39)	S872N	probably benign	Het
Slc44a5	A	G	3: 153,956,651 (GRCm39)	Y301C	probably damaging	Het
Smap1	A	T	1: 23,930,995 (GRCm39)	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,198,007 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,093,573 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,146 (GRCm39)	R76*	probably null	Het
Stag3	A	G	5: 138,280,955 (GRCm39)	K49R	probably damaging	Het
Stim1	C	A	7: 101,917,758 (GRCm39)	A46E	unknown	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,992,559 (GRCm39)	T114A	probably benign	Het
Tln2	G	A	9: 67,128,807 (GRCm39)		probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Vwde	G	A	6: 13,187,136 (GRCm39)	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,137,232 (GRCm39)	T121A	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
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
RF026:Rbm33	UTSW	5	28,599,179 (GRCm39)	small deletion	probably benign
RF047:Rbm33	UTSW	5	28,599,160 (GRCm39)	small insertion	probably benign

Posted On

2015-12-18