Mutagenetix > Incidental Mutations

Incidental Mutation 'R7424:Rbm12'

575899

Institutional Source

Beutler Lab

Gene Symbol

Rbm12

Ensembl Gene

ENSMUSG00000089824

Gene Name

RNA binding motif protein 12

Synonyms

SWAN, 5730420G12Rik, 9430070C08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R7424 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156091958-156111978 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156097303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 350 (F350L)

Ref Sequence

ENSEMBL: ENSMUSP00000050461 (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

PDB Structure

Solution structure of the RNA binding domain of RNA-binding protein 12 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059647
AA Change: F350L

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: F350L

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

possibly damaging
Transcript: ENSMUST00000109604
AA Change: F350L

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: F350L

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

SMART Domains

Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950
AA Change: F261L

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
AA Change: F350L

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
AA Change: F350L

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (76/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,145,545	R71C	probably damaging	Het
Aanat	A	T	11: 116,595,629		probably benign	Het
Ahrr	G	T	13: 74,257,545	S91*	probably null	Het
Ampd1	A	T	3: 103,088,442	N223Y	probably benign	Het
Ankar	T	G	1: 72,680,058	N544T	probably damaging	Het
Ankk1	A	G	9: 49,418,750	S302P	possibly damaging	Het
Bcr	T	C	10: 75,157,100	V809A	probably benign	Het
Bpifb2	A	G	2: 153,890,540	N353S	possibly damaging	Het
Cyth1	A	T	11: 118,184,009		probably null	Het
Ddx5	A	T	11: 106,782,180	N506K	probably benign	Het
Dnaja1	A	T	4: 40,730,244	I239F	probably benign	Het
Ethe1	C	T	7: 24,606,251	T141I	probably damaging	Het
Fam160b2	T	C	14: 70,594,007	H29R	probably damaging	Het
Gdap2	A	T	3: 100,202,066	I36F	unknown	Het
Gm13030	A	T	4: 138,871,266	D115E	unknown	Het
Gm13103	C	T	4: 143,853,209	P455S	probably benign	Het
Gm17019	A	T	5: 15,029,372	L227Q	probably damaging	Het
Gm9195	T	A	14: 72,435,777	E2517D	possibly damaging	Het
Gramd2	T	A	9: 59,708,071	V39D	possibly damaging	Het
Hmcn1	C	T	1: 150,630,266	W3836*	probably null	Het
Hspa14	C	T	2: 3,489,041	D494N	possibly damaging	Het
Ifit2	A	G	19: 34,573,198	N46S	probably benign	Het
Ifna6	A	T	4: 88,827,807	E131V	possibly damaging	Het
Ift140	T	C	17: 25,037,036	V504A	possibly damaging	Het
Irgc1	T	C	7: 24,432,228	N388S	probably damaging	Het
Itgal	T	A	7: 127,317,365	V743E	probably benign	Het
Itih5	T	C	2: 10,245,637	S716P	probably damaging	Het
Kcnab1	A	T	3: 65,266,503	K78N	possibly damaging	Het
Kif1a	A	T	1: 93,054,317	V787E	possibly damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Krt39	A	T	11: 99,518,091	V293E	probably damaging	Het
Lrrn4	A	G	2: 132,869,743	F720S	possibly damaging	Het
Map2	G	A	1: 66,414,824	A958T	possibly damaging	Het
Map3k9	A	G	12: 81,724,097	S906P	probably benign	Het
Mdc1	T	C	17: 35,853,309	S1250P	probably benign	Het
Meltf	G	A	16: 31,884,946	V164I	probably damaging	Het
Mtap	T	G	4: 89,179,462		probably null	Het
Mtus1	C	A	8: 41,022,406	V184F	probably damaging	Het
Myh1	A	T	11: 67,213,663	D1015V	probably damaging	Het
Ndrg1	T	C	15: 66,944,938		probably null	Het
Nkd1	G	T	8: 88,585,175	V130L	probably benign	Het
Nsfl1c	A	G	2: 151,500,753	D81G	probably benign	Het
Nt5c1b	T	A	12: 10,381,391		probably null	Het
Nucb1	T	C	7: 45,498,778	K204E	possibly damaging	Het
Nwd1	T	G	8: 72,675,173	M774R	possibly damaging	Het
Olfr165	A	T	16: 19,407,194	V274E	probably damaging	Het
Olfr262	A	T	19: 12,240,954	S236T	possibly damaging	Het
Olfr654	G	C	7: 104,588,700	E299Q	probably damaging	Het
Pan3	T	A	5: 147,536,272		probably null	Het
Pcdh15	A	T	10: 74,506,485	T1135S	probably benign	Het
Pfas	A	G	11: 69,000,092	I331T	probably damaging	Het
Plxna2	T	A	1: 194,806,339	I1641N	probably damaging	Het
Ptar1	A	T	19: 23,718,101	R311W	probably damaging	Het
Ranbp2	T	G	10: 58,479,194	M1912R	probably damaging	Het
Sdhaf1	T	C	7: 30,322,043	D96G	probably benign	Het
Serpinb6b	T	A	13: 32,968,667	M53K	probably damaging	Het
Sh2d6	A	T	6: 72,517,164	L147Q	probably benign	Het
Slc19a2	T	A	1: 164,260,876	C298S	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
St8sia2	T	A	7: 73,960,902	Q211L	possibly damaging	Het
Sult2a2	T	C	7: 13,734,897	I96T	possibly damaging	Het
Tab2	G	T	10: 7,907,483	H678Q	probably damaging	Het
Tnfaip6	A	G	2: 52,038,216	E14G	probably benign	Het
Trip11	A	T	12: 101,885,198	L869H	probably damaging	Het
Tslp	T	C	18: 32,819,080	Y133H	not run	Het
Ttn	A	G	2: 76,932,143	V3374A	unknown	Het
Ttn	T	C	2: 76,740,990	I26520V	probably damaging	Het
Tubgcp2	T	A	7: 140,007,924	I263F	possibly damaging	Het
Uaca	A	G	9: 60,870,110	E593G	probably damaging	Het
Unc13b	C	T	4: 43,172,235	T1021I	unknown	Het
Ush1c	T	A	7: 46,225,555	I131F	probably benign	Het
Usp24	C	A	4: 106,379,107	D997E	probably benign	Het
Usp54	T	C	14: 20,577,040	T517A	probably benign	Het
Vmn1r151	A	T	7: 22,499,080	M200K	possibly damaging	Het
Vmn2r43	T	C	7: 8,255,329	D295G	probably damaging	Het
Vmn2r70	G	A	7: 85,563,868	P444S	probably damaging	Het
Vmn2r85	G	T	10: 130,418,980	P612T	probably damaging	Het
Vps13d	A	T	4: 145,148,747	V1736D		Het
Zbtb11	A	T	16: 55,990,487	H336L	probably benign	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
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
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'- CTCATGTGGTGATCTTGATCTTGAC -3'
(R):5'- AGCAGCGTGAAGTCTCTTCC -3'

Sequencing Primer
(F):5'- CCACTGGGCGATTTTGACC -3'
(R):5'- AGCGTGAAGTCTCTTCCCATCAAC -3'

Posted On

2019-10-07