Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Rbm12'

481292

Institutional Source

Beutler Lab

Gene Symbol

Rbm12

Ensembl Gene

ENSMUSG00000089824

Gene Name

RNA binding motif protein 12

Synonyms

SWAN, 5730420G12Rik, 9430070C08Rik

MMRRC Submission

044161-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R5979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156091958-156111978 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 156097759 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] [ENSMUST00000153634] [ENSMUST00000184265] [ENSMUST00000183518] [ENSMUST00000183972] [ENSMUST00000147627] [ENSMUST00000154889] [ENSMUST00000142960] [ENSMUST00000184152] [ENSMUST00000184899]

AlphaFold

Q8R4X3

Predicted Effect

unknown
Transcript: ENSMUST00000059647
AA Change: S198A

SMART Domains

Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: S198A

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

unknown
Transcript: ENSMUST00000109604
AA Change: S198A

SMART Domains

Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: S198A

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: S109A

SMART Domains

Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950
AA Change: S109A

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: S198A

SMART Domains

Protein: ENSMUSP00000120731
Gene: ENSMUSG00000089824
AA Change: S198A

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

unknown
Transcript: ENSMUST00000132494
AA Change: S198A

SMART Domains

Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
AA Change: S198A

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: 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: 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: 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: 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: 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: 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: 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: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,522,109	I103V	possibly damaging	Het
Adam3	T	C	8: 24,677,367	N36S	probably benign	Het
Adamts3	A	G	5: 89,861,669	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,534,046	L69*	probably null	Het
Alkbh5	T	A	11: 60,538,691	I90N	probably damaging	Het
Alx1	T	C	10: 103,022,259	Y193C	probably damaging	Het
Ankrd11	T	G	8: 122,892,400	D1571A	probably damaging	Het
Brd4	T	C	17: 32,198,726	D124G	probably benign	Het
C2cd2	G	A	16: 97,875,218	T443I	probably benign	Het
Casp8	A	T	1: 58,828,912	M171L	probably benign	Het
Cd200r4	G	A	16: 44,832,932	V22I	probably benign	Het
Cdcp2	A	G	4: 107,105,281	Y217C	probably damaging	Het
Cfh	C	A	1: 140,118,671	V556F	possibly damaging	Het
Chka	T	G	19: 3,884,513	I182M	probably damaging	Het
Cope	T	C	8: 70,302,543		probably null	Het
Coq10b	T	C	1: 55,052,918	V15A	probably benign	Het
Cpne9	T	A	6: 113,293,749	S309T	probably benign	Het
Daam2	T	A	17: 49,459,204	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393		probably null	Het
Dhx35	G	T	2: 158,842,869	R536L	probably benign	Het
Dnah8	G	T	17: 30,815,664	E4186*	probably null	Het
Dnah9	A	G	11: 65,834,481	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,384,283		probably null	Het
Dst	T	A	1: 34,160,372		probably benign	Het
Ehbp1	C	A	11: 22,151,887	V214L	probably benign	Het
Fam131b	T	C	6: 42,321,971	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,582,091	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,434,568	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,197,923		probably null	Het
Gprin1	G	A	13: 54,739,978	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149	F183I	probably damaging	Het
Hmx2	A	G	7: 131,554,550	T82A	probably benign	Het
Igsf10	C	T	3: 59,336,473	E147K	probably damaging	Het
Kndc1	G	A	7: 139,939,827	A1700T	probably benign	Het
Knl1	T	C	2: 119,069,360	V514A	possibly damaging	Het
Lama2	T	C	10: 27,235,732	D764G	probably damaging	Het
Lgi3	G	A	14: 70,536,460	R358H	probably damaging	Het
Limd1	G	T	9: 123,479,414	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,772,945	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,665,274		probably null	Het
Mroh7	T	C	4: 106,720,926	N185S	probably benign	Het
Muc2	A	G	7: 141,697,250		probably null	Het
Muc2	G	A	7: 141,751,406	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,548,971	F458S	probably benign	Het
Nop58	A	T	1: 59,702,831	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,088,203	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,396,562	N322S	probably benign	Het
Ocstamp	A	G	2: 165,397,547	S240P	probably damaging	Het
Olfr137	T	C	17: 38,305,192	K90E	probably benign	Het
Olfr311	A	G	11: 58,841,840	H242R	probably damaging	Het
Olfr713	G	A	7: 107,036,336	M60I	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Ovch2	G	A	7: 107,794,388	T177I	possibly damaging	Het
Parn	A	C	16: 13,606,171	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,437,991	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,805,746	F1377L	probably damaging	Het
Pign	G	T	1: 105,589,274	S542R	probably benign	Het
Prex2	G	T	1: 11,132,372	V502F	probably damaging	Het
Psmd1	A	T	1: 86,090,053	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,579,305	E2G	probably benign	Het
R3hdm1	A	G	1: 128,211,223	N380S	probably benign	Het
Rgl1	A	G	1: 152,557,493	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,800,435	S457P	probably damaging	Het
Sall4	A	T	2: 168,750,343	S964T	probably benign	Het
Sart1	T	A	19: 5,381,223	I681F	probably damaging	Het
Serinc5	T	C	13: 92,661,136	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,255,053	V154A	probably benign	Het
Skiv2l	A	T	17: 34,841,463	N851K	probably benign	Het
Smox	G	A	2: 131,516,414	V136I	probably damaging	Het
Sspo	C	T	6: 48,463,693	T1747I	probably benign	Het
Swt1	A	T	1: 151,407,588	D339E	possibly damaging	Het
Synpo2	A	G	3: 123,117,411	L195P	probably damaging	Het
Syt7	G	T	19: 10,443,479	G414W	probably damaging	Het
Tmem186	G	A	16: 8,636,160	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,575,744	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239	V326M	probably damaging	Het
Trim58	A	G	11: 58,646,083	E234G	probably damaging	Het
Ttr	T	C	18: 20,670,002	L75P	probably damaging	Het
Ubr1	C	T	2: 120,946,382	V293I	probably benign	Het
Vmn1r91	T	A	7: 20,102,065	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,312,335	I833S	probably damaging	Het
Zfp131	G	T	13: 119,776,446	N125K	probably benign	Het
Zfp169	A	T	13: 48,491,040		probably benign	Het
Zfp213	C	A	17: 23,557,911	E386*	probably null	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
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'- TCCAGAGCCATTCATTCCAGC -3'
(R):5'- GCCAAGTGTAGTAACTGCTACCAC -3'

Sequencing Primer
(F):5'- CCATTCATTCCAGCAGGTAAAGGTG -3'
(R):5'- CACTTCTGTTCATGAGAGCAAC -3'

Posted On

2017-06-26