Mutagenetix > Incidental Mutation

Incidental Mutation 'RF021:Rbm12'

603866

Institutional Source

Beutler Lab

Gene Symbol

Rbm12

Ensembl Gene

ENSMUSG00000089824

Gene Name

RNA binding motif protein 12

Synonyms

SWAN, 5730420G12Rik, 9430070C08Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

RF021 (G1)

Quality Score

214.594

Status

Not validated

Chromosome

Chromosomal Location

156091958-156111978 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

CAGG to CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG at 156096106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139177 (fasta)

Gene Model

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

AlphaFold

Q8R4X3

Predicted Effect

probably benign
Transcript: ENSMUST00000059647

SMART Domains

Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824

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 benign
Transcript: ENSMUST00000109604

SMART Domains

Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824

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

probably benign
Transcript: ENSMUST00000127956

SMART Domains

Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950

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

probably benign
Transcript: ENSMUST00000131377

SMART Domains

Protein: ENSMUSP00000120731
Gene: ENSMUSG00000089824

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

probably benign
Transcript: ENSMUST00000132494

SMART Domains

Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950

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

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: 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: 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: 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: 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: 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: 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: ENSMUST00000183972

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: 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: 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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,050,748		probably benign	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
Ankrd44	T	C	1: 54,778,312	H79R	probably damaging	Het
Atg9a	T	A	1: 75,182,629	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,642,473	V224A	probably benign	Het
Cpn2	G	A	16: 30,259,338	A515V	probably benign	Het
Cyp2a12	T	C	7: 27,035,360	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,485,832		probably benign	Het
Diexf	A	G	1: 193,120,666	F248L	probably benign	Het
Dnah10	G	T	5: 124,777,907	V2016F	probably damaging	Het
Dock10	T	C	1: 80,564,573		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,874,773		probably benign	Het
Fam131a	A	C	16: 20,694,940		probably benign	Het
Gm6614	A	T	6: 142,008,714	V31E	probably damaging	Het
Gm7247	AGACCAGACC	A	14: 51,364,324		probably benign	Het
Gna13	T	C	11: 109,392,392	V186A	probably benign	Het
Grk3	T	A	5: 112,941,688	I333L	probably benign	Het
Gstp1	A	T	19: 4,035,507	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,803,865	V74G	possibly damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Kiz	A	G	2: 146,870,830	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,586,357		probably benign	Het
Lats1	A	G	10: 7,710,608	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 93,018,269		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 93,018,295		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676		probably null	Het
Med12l	T	C	3: 59,073,290	F359S	probably benign	Het
Mut	A	G	17: 40,951,758	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,149,109		probably benign	Het
Ngp	A	G	9: 110,421,756	T114A	possibly damaging	Het
Nlrc5	A	T	8: 94,476,888	T539S	probably benign	Het
Nxf1	A	G	19: 8,772,309	D190G	probably damaging	Het
Olfr229	A	T	9: 39,910,045	M81L	probably benign	Het
Olfr769	A	T	10: 129,112,342	F28I	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,808,756	H563Y	probably damaging	Het
Sema3g	C	T	14: 31,227,841	H660Y	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,997		probably benign	Het
Stpg2	A	T	3: 139,212,250		probably null	Het
Taar7f	C	T	10: 24,050,423	T305M	possibly damaging	Het
Tbcb	C	T	7: 30,224,346	V208M	probably damaging	Het
Tenm2	T	A	11: 36,024,203	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890	V108A	probably damaging	Het
Tmc8	T	C	11: 117,783,234	M42T	probably benign	Het
Trdc	T	C	14: 54,144,203	V115A		Het
Ttbk2	A	G	2: 120,748,634	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,335,316		probably benign	Het
Vps16	A	G	2: 130,438,209	H118R	probably benign	Het
Wdpcp	T	A	11: 21,711,587	C286*	probably null	Het
Zbed4	C	A	15: 88,781,236	Y502*	probably null	Het
Zdbf2	T	A	1: 63,302,652	N63K	possibly 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
R1511:Rbm12	UTSW	2	156097536	missense	probably damaging	0.98
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
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'- GCCAGGCAAACCACTATTTC -3'
(R):5'- AATGCCTGGTCCTGGAATG -3'

Sequencing Primer
(F):5'- AGGCACCCCCTAATCCTGG -3'
(R):5'- TCCTGGAATGCCCGGTC -3'

Posted On

2019-12-04