Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:Rbm33'

698516

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 #

R9206 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28317121-28419239 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28352586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 266 (T266A)

Ref Sequence

ENSEMBL: ENSMUSP00000030920 (fasta)

Gene Model

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

AlphaFold

Q9CXK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030920
AA Change: T266A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030920
Gene: ENSMUSG00000048271
AA Change: T266A

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 benign
Transcript: ENSMUST00000059644
AA Change: T266A

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: T266A

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 damaging
Transcript: ENSMUST00000090355
AA Change: T226A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091512
Gene: ENSMUSG00000048271
AA Change: T226A

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

possibly damaging
Transcript: ENSMUST00000114884
AA Change: T226A

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
AA Change: T226A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,509,404	D248G	probably benign	Het
Abcc5	C	A	16: 20,389,389	V605F	probably benign	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Als2	A	G	1: 59,185,247	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Apex1	T	G	14: 50,925,668	D69E	possibly damaging	Het
Atg13	A	T	2: 91,682,061	F288I	probably benign	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
Atoh1	A	G	6: 64,729,729	E136G	probably benign	Het
Ccr7	T	C	11: 99,149,069	N9S	probably benign	Het
Cdhr1	A	C	14: 37,080,548	W653G	probably damaging	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Crnn	A	C	3: 93,146,944	I45L	possibly damaging	Het
Cse1l	C	A	2: 166,941,265	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dnah7a	G	T	1: 53,501,598	T2539N	probably benign	Het
Fam13c	A	G	10: 70,553,039	E465G	probably damaging	Het
Fat4	G	C	3: 39,009,241	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,038,210	L964S	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm973	A	T	1: 59,552,426	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Iars2	A	T	1: 185,317,949	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,777,603	S545P	probably damaging	Het
Kif1a	G	T	1: 93,051,480	D928E	probably damaging	Het
Kif26a	C	T	12: 112,178,046	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,243,358		probably null	Het
Klhl31	T	A	9: 77,651,107	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,250,451	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,322,925	C924S	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mpp7	T	C	18: 7,403,327	R328G	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nlrp9a	C	A	7: 26,558,231	L425M	possibly damaging	Het
Nop9	T	A	14: 55,750,135		probably null	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,897,808	M1I	probably null	Het
Olfr1314	A	G	2: 112,092,065	F212S	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Ptprd	C	G	4: 75,954,078	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,314,098	Y469*	probably null	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Rcor3	A	T	1: 192,101,595	*448R	probably null	Het
Scn10a	T	C	9: 119,616,761	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,717,787	I1108F	probably damaging	Het
Scrn2	T	C	11: 97,032,136	I135T	probably damaging	Het
Sptan1	A	T	2: 30,030,712	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,836,998	S98P	probably benign	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Tor4a	A	T	2: 25,194,963	N309K	probably damaging	Het
Trbv4	A	G	6: 41,059,690	T50A	probably benign	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Tvp23b	T	C	11: 62,882,016	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,559,611	I156F	probably damaging	Het
Wnk4	T	C	11: 101,274,056	I737T	probably damaging	Het
Zfp329	A	T	7: 12,811,158	D146E	probably benign	Het
Zfp40	A	G	17: 23,175,577	F679L	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp804b	T	C	5: 6,772,154	N303S	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
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
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'- TTACCAGGCACTTTGAGCTG -3'
(R):5'- TGAGCATAGCACAACTGGGC -3'

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

Posted On

2022-02-07