Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:Rbm12'

168282

Institutional Source

Beutler Lab

Gene Symbol

Rbm12

Ensembl Gene

ENSMUSG00000089824

Gene Name

RNA binding motif protein 12

Synonyms

SWAN, 5730420G12Rik, 9430070C08Rik

MMRRC Submission

039558-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R1511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156091958-156111978 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156097536 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 272 (M272K)

Ref Sequence

ENSEMBL: ENSMUSP00000105233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059647] [ENSMUST00000079312] [ENSMUST00000109604] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000128499] [ENSMUST00000131377] [ENSMUST00000132494] [ENSMUST00000133921] [ENSMUST00000136296] [ENSMUST00000138068] [ENSMUST00000153634] [ENSMUST00000183972] [ENSMUST00000184265] [ENSMUST00000142960] [ENSMUST00000184152] [ENSMUST00000183518] [ENSMUST00000147627] [ENSMUST00000154889] [ENSMUST00000184899]

AlphaFold

Q8R4X3

Predicted Effect

probably damaging
Transcript: ENSMUST00000059647
AA Change: M272K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: M272K

Domain	Start	End	E-Value	Type
Pfam:RRM_6	5	70	5e-5	PFAM
low complexity region	98	116	N/A	INTRINSIC
low complexity region	161	260	N/A	INTRINSIC
RRM	305	375	1.05e-1	SMART
RRM	431	503	2.73e-7	SMART
RRM	545	617	8.73e-6	SMART
low complexity region	655	767	N/A	INTRINSIC
low complexity region	781	812	N/A	INTRINSIC
low complexity region	866	908	N/A	INTRINSIC
RRM	917	990	1.03e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000079312

SMART Domains

Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	137	242	8.76e-12	SMART
VWA	282	468	8.96e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109604
AA Change: M272K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: M272K

Domain	Start	End	E-Value	Type
Pfam:RRM_6	5	70	1.1e-5	PFAM
low complexity region	98	116	N/A	INTRINSIC
low complexity region	161	260	N/A	INTRINSIC
RRM	305	375	1.05e-1	SMART
RRM	431	503	2.73e-7	SMART
RRM	545	617	8.73e-6	SMART
low complexity region	655	767	N/A	INTRINSIC
low complexity region	781	812	N/A	INTRINSIC
low complexity region	866	908	N/A	INTRINSIC
RRM	917	990	1.03e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109607

SMART Domains

Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	137	242	8.76e-12	SMART
VWA	282	484	9.5e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109608

SMART Domains

Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	137	242	8.76e-12	SMART
VWA	282	484	9.5e-15	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000127956
AA Change: M183K

SMART Domains

Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950
AA Change: M183K

Domain	Start	End	E-Value	Type
low complexity region	10	28	N/A	INTRINSIC
low complexity region	73	172	N/A	INTRINSIC
RRM	217	287	1.05e-1	SMART
RRM	343	415	2.73e-7	SMART
RRM	457	529	8.73e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128499

SMART Domains

Protein: ENSMUSP00000118067
Gene: ENSMUSG00000089824

Domain	Start	End	E-Value	Type
PDB:2DB1\|A	2	86	6e-8	PDB
Blast:RRM_2	4	72	1e-30	BLAST
low complexity region	98	116	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000131377
AA Change: M272K

SMART Domains

Protein: ENSMUSP00000120731
Gene: ENSMUSG00000089824
AA Change: M272K

Domain	Start	End	E-Value	Type
PDB:2DB1\|A	2	86	1e-7	PDB
Blast:RRM_2	4	72	4e-29	BLAST
low complexity region	98	116	N/A	INTRINSIC
low complexity region	161	260	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132494
AA Change: M272K

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
AA Change: M272K

Domain	Start	End	E-Value	Type
Pfam:RRM_6	5	70	1.5e-5	PFAM
low complexity region	98	116	N/A	INTRINSIC
low complexity region	161	260	N/A	INTRINSIC
RRM	305	375	1.05e-1	SMART
RRM	431	503	2.73e-7	SMART
RRM	545	617	8.73e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133921

SMART Domains

Protein: ENSMUSP00000122644
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
Pfam:C2	139	178	3.3e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136296

SMART Domains

Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	123	218	7.88e-5	SMART
Pfam:Copine	279	378	2.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138068

SMART Domains

Protein: ENSMUSP00000119519
Gene: ENSMUSG00000089824

Domain	Start	End	E-Value	Type
PDB:2DB1\|A	2	86	5e-8	PDB
Blast:RRM_2	4	72	1e-30	BLAST
low complexity region	98	116	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142975

Predicted Effect

probably benign
Transcript: ENSMUST00000153634

SMART Domains

Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	123	218	7.88e-5	SMART
Pfam:Copine	279	325	4.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162612

SMART Domains

Protein: ENSMUSP00000125190
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
SCOP:d1eg5a_	3	82	1e-15	SMART
PDB:1P3W\|A	3	86	2e-34	PDB
low complexity region	93	106	N/A	INTRINSIC
Blast:RRM_2	124	161	1e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000183972

Predicted Effect

probably benign
Transcript: ENSMUST00000184265

SMART Domains

Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142960

SMART Domains

Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	2.4e-11	SMART
C2	123	206	3e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184152

SMART Domains

Protein: ENSMUSP00000139035
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183518

SMART Domains

Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
Blast:RRM_2	4	40	4e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160165

SMART Domains

Protein: ENSMUSP00000124858
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
PDB:1P3W\|A	3	28	1e-6	PDB
low complexity region	36	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147627

SMART Domains

Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	137	242	8.76e-12	SMART
Pfam:Copine	303	350	1.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154889

SMART Domains

Protein: ENSMUSP00000118140
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159952

SMART Domains

Protein: ENSMUSP00000124101
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
SCOP:d1eg5a_	3	82	2e-15	SMART
PDB:1P3W\|A	3	86	3e-34	PDB
low complexity region	93	106	N/A	INTRINSIC
Blast:RRM_2	124	160	2e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000184899

SMART Domains

Protein: ENSMUSP00000139177
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
Blast:RRM_2	4	54	2e-25	BLAST
SCOP:d2u1a__	9	68	6e-3	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 2 H2. Two alternatively spliced transcript variants have been identified for this gene. Both variants encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU mutation exhibit open neural tube and embryonic growth retardation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,514,977	N576K	probably benign	Het
Abca5	G	T	11: 110,299,978	L769M	probably damaging	Het
Abca5	T	A	11: 110,299,986	H766L	possibly damaging	Het
Acvr1c	A	G	2: 58,287,884	I191T	probably damaging	Het
Agps	A	T	2: 75,866,779	E314D	probably damaging	Het
Agxt	G	A	1: 93,135,768	G131R	probably damaging	Het
Ak8	A	G	2: 28,742,746	T326A	probably benign	Het
Aldoart2	T	A	12: 55,566,277	I329N	probably benign	Het
Apaf1	T	C	10: 91,060,185	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,527,161	S68P	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AU022252	C	T	4: 119,228,097	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,217,782	L695P	probably damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Cep76	T	C	18: 67,624,958	M421V	probably benign	Het
Clk2	A	G	3: 89,168,703	D60G	probably damaging	Het
Clstn3	G	T	6: 124,462,169	T6K	probably damaging	Het
Cluap1	T	A	16: 3,919,558	D180E	probably benign	Het
Col12a1	T	C	9: 79,699,552	I530V	probably benign	Het
Cpt1a	T	C	19: 3,365,788		probably benign	Het
Cr2	T	G	1: 195,155,272	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,554,112	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,585,250		probably benign	Het
Cxcr1	T	C	1: 74,192,770	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,835,936	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,222,727	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,236,278	V462A	probably benign	Het
Elmo1	A	G	13: 20,290,477	K357R	possibly damaging	Het
Eml6	T	A	11: 29,818,374	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,832,664	I370T	probably benign	Het
Esp36	A	T	17: 38,417,281	N79K	possibly damaging	Het
Fam229b	A	G	10: 39,118,919	*81Q	probably null	Het
Fat4	T	C	3: 38,983,076	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,306,285	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,445,469		noncoding transcript	Het
Galm	C	A	17: 80,183,267	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,159,102	S735T	probably benign	Het
Hsph1	A	T	5: 149,630,383	S207T	probably benign	Het
Il33	C	T	19: 29,955,215	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,169,324		probably null	Het
Kirrel2	A	G	7: 30,456,498	C42R	probably damaging	Het
Letm1	A	C	5: 33,752,555	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,745,484	K160N	probably benign	Het
Lrrtm3	A	G	10: 64,089,025	I121T	probably damaging	Het
Lztr1	T	A	16: 17,509,670	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,278	D378E	probably damaging	Het
Mpzl3	A	G	9: 45,066,529	E145G	probably damaging	Het
Mrps2	C	T	2: 28,469,664	L178F	probably damaging	Het
Mzb1	A	G	18: 35,647,822		probably null	Het
Nckap1	T	C	2: 80,553,415	D135G	probably damaging	Het
Ndst1	A	G	18: 60,697,170	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,413,347	D143V	probably damaging	Het
Olfr1225	A	G	2: 89,170,937	S92P	probably damaging	Het
Olfr1241	T	C	2: 89,482,248	M296V	probably null	Het
Olfr1311	A	G	2: 112,021,404	V150A	probably benign	Het
Olfr146	T	C	9: 39,019,025	D172G	probably benign	Het
Olfr307	T	C	7: 86,336,345	D17G	possibly damaging	Het
Olfr32	A	G	2: 90,138,404	V245A	probably benign	Het
Olfr548-ps1	T	C	7: 102,542,125	L63P	probably damaging	Het
Olfr907	A	G	9: 38,498,818	I50V	probably benign	Het
Parp14	T	G	16: 35,857,224	E791D	probably benign	Het
Pcdh8	C	T	14: 79,769,389	R578H	possibly damaging	Het
Phrf1	T	A	7: 141,259,801		probably benign	Het
Polr3b	C	A	10: 84,680,385	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,251,859	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,182,460	V33D	probably damaging	Het
Ppp5c	A	G	7: 17,009,982	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,197,005	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,972,130	V122M	probably damaging	Het
Rasef	G	T	4: 73,735,748	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,195,634	S198P	probably damaging	Het
Rexo1	T	G	10: 80,550,050	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,731,347	S384P	probably benign	Het
Rpsa	A	T	9: 120,131,000	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,098,952	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,526,813	D1048V	probably benign	Het
Sec11a	T	C	7: 80,927,734		probably null	Het
Sidt2	A	G	9: 45,950,089	V19A	probably damaging	Het
Snx14	G	A	9: 88,398,364	Q522*	probably null	Het
Stx1b	A	G	7: 127,814,972	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,609,878	M371K	probably benign	Het
Tmem115	T	C	9: 107,534,975	V166A	probably benign	Het
Traf5	T	A	1: 191,999,951	T310S	probably benign	Het
Trdn	A	G	10: 33,466,452	K619E	probably benign	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Txk	A	C	5: 72,707,671	I287R	probably damaging	Het
Txndc16	T	C	14: 45,151,887	D452G	probably damaging	Het
Ube2f	G	A	1: 91,262,301		probably null	Het
Ubtfl1	T	G	9: 18,410,193	I339R	probably benign	Het
Upf1	A	G	8: 70,338,505	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,328,653	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,786	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,321,270	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,608,496	R485*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,801	T152A	probably benign	Het
Vps13b	T	C	15: 35,839,975	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,573	N2583S	probably benign	Het
Wscd1	C	T	11: 71,788,675	P458L	probably damaging	Het
Xylt2	T	A	11: 94,670,433	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,467,972	T306A	probably benign	Het
Zfp804b	A	T	5: 6,769,771	D1097E	possibly damaging	Het
Zfp93	T	A	7: 24,275,731	C380*	probably null	Het
Zfp960	T	A	17: 17,088,256	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,464,793	V430E	probably damaging	Het

Other mutations in Rbm12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Rbm12	APN	2	156096041	intron	probably benign
IGL01307:Rbm12	APN	2	156095382	intron	probably benign
IGL02474:Rbm12	APN	2	156098097	missense	probably damaging	1.00
IGL02596:Rbm12	APN	2	156095560	intron	probably benign
IGL02601:Rbm12	APN	2	156095560	intron	probably benign
IGL02603:Rbm12	APN	2	156095560	intron	probably benign
IGL02608:Rbm12	APN	2	156095898	intron	probably benign
IGL02679:Rbm12	APN	2	156095560	intron	probably benign
IGL02691:Rbm12	APN	2	156095560	intron	probably benign
IGL02693:Rbm12	APN	2	156095560	intron	probably benign
IGL02702:Rbm12	APN	2	156095560	intron	probably benign
IGL02703:Rbm12	APN	2	156095560	intron	probably benign
IGL03407:Rbm12	APN	2	156097564	nonsense	probably null
IGL02991:Rbm12	UTSW	2	156095560	intron	probably benign
R0310:Rbm12	UTSW	2	156095724	intron	probably benign
R1213:Rbm12	UTSW	2	156097492	nonsense	probably null
R1280:Rbm12	UTSW	2	156096829	missense	probably damaging	1.00
R1951:Rbm12	UTSW	2	156097213	missense	probably damaging	0.99
R2131:Rbm12	UTSW	2	156095510	nonsense	probably null
R2133:Rbm12	UTSW	2	156095510	nonsense	probably null
R2883:Rbm12	UTSW	2	156097075	missense	probably damaging	0.98
R4760:Rbm12	UTSW	2	156097128	missense	probably damaging	0.99
R4783:Rbm12	UTSW	2	156096564	missense	possibly damaging	0.95
R4784:Rbm12	UTSW	2	156096564	missense	possibly damaging	0.95
R4785:Rbm12	UTSW	2	156096564	missense	possibly damaging	0.95
R4794:Rbm12	UTSW	2	156095569	intron	probably benign
R5057:Rbm12	UTSW	2	156096886	missense	probably benign	0.18
R5383:Rbm12	UTSW	2	156103365	utr 5 prime	probably benign
R5599:Rbm12	UTSW	2	156096793	nonsense	probably null
R5979:Rbm12	UTSW	2	156097759	intron	probably benign
R6083:Rbm12	UTSW	2	156097726	intron	probably benign
R6769:Rbm12	UTSW	2	156097455	missense	possibly damaging	0.95
R6771:Rbm12	UTSW	2	156097455	missense	possibly damaging	0.95
R7233:Rbm12	UTSW	2	156095974	missense	unknown
R7424:Rbm12	UTSW	2	156097303	missense	possibly damaging	0.57
R7483:Rbm12	UTSW	2	156098218	missense	unknown
R7643:Rbm12	UTSW	2	156098217	missense	unknown
R7848:Rbm12	UTSW	2	156096216	missense	probably benign	0.01
R8556:Rbm12	UTSW	2	156096561	missense	probably damaging	1.00
R8866:Rbm12	UTSW	2	156096773	nonsense	probably null
R8875:Rbm12	UTSW	2	156096921	missense	probably damaging	1.00
R9054:Rbm12	UTSW	2	156095561	missense	unknown
R9115:Rbm12	UTSW	2	156096110	intron	probably benign
R9179:Rbm12	UTSW	2	156096543	missense	probably benign	0.05
R9262:Rbm12	UTSW	2	156097397	missense	possibly damaging	0.49
R9495:Rbm12	UTSW	2	156097818	missense	unknown
R9656:Rbm12	UTSW	2	156098201	missense	unknown
R9701:Rbm12	UTSW	2	156096246	missense	probably benign	0.01
R9759:Rbm12	UTSW	2	156096626	missense	probably benign	0.03
RF001:Rbm12	UTSW	2	156096075	intron	probably benign
RF021:Rbm12	UTSW	2	156096106	intron	probably benign
RF028:Rbm12	UTSW	2	156096130	frame shift	probably null
RF029:Rbm12	UTSW	2	156096095	intron	probably benign
RF033:Rbm12	UTSW	2	156096079	intron	probably benign
RF033:Rbm12	UTSW	2	156096080	intron	probably benign
RF033:Rbm12	UTSW	2	156096082	intron	probably benign
RF033:Rbm12	UTSW	2	156096083	intron	probably benign
RF033:Rbm12	UTSW	2	156096084	intron	probably benign
RF038:Rbm12	UTSW	2	156096106	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGATATGACCTCCAGCAGCTACCC -3'
(R):5'- CCAATCCCAGCGATGCCATCTTTG -3'

Sequencing Primer
(F):5'- GGCAGGACTGACTTCCACATAG -3'
(R):5'- GATGCCATCTTTGCCACCG -3'

Posted On

2014-04-13