Mutagenetix > Incidental Mutations

Incidental Mutation 'R0310:Rbm12'

25086

Institutional Source

Beutler Lab

Gene Symbol

Rbm12

Ensembl Gene

ENSMUSG00000089824

Gene Name

RNA binding motif protein 12

Synonyms

SWAN, 5730420G12Rik, 9430070C08Rik

MMRRC Submission

038520-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R0310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156091958-156111978 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 156095724 bp

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]

Predicted Effect

unknown
Transcript: ENSMUST00000059647
AA Change: L876P

SMART Domains

Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: L876P

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: L876P

SMART Domains

Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: L876P

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

noncoding transcript
Transcript: ENSMUST00000142975

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

Meta Mutation Damage Score

0.196

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 93.3%
20x: 82.5%

Validation Efficiency

99% (113/114)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	C	9: 53,425,671	T92P	probably damaging	Het
9530053A07Rik	G	T	7: 28,142,274	V545L	probably benign	Het
Abca13	T	C	11: 9,293,810	V1891A	probably benign	Het
Abcc1	T	A	16: 14,410,927	I346N	probably damaging	Het
Afdn	G	T	17: 13,885,508		probably null	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Akap13	A	G	7: 75,614,930	D507G	probably damaging	Het
Akap8	A	T	17: 32,316,260	M260K	possibly damaging	Het
Akr1b8	T	C	6: 34,365,259	V265A	probably benign	Het
Alpk3	C	G	7: 81,078,610	P496R	possibly damaging	Het
Ankrd13b	A	G	11: 77,472,745	V249A	possibly damaging	Het
Arid4a	T	C	12: 71,075,830	V995A	probably benign	Het
Ascc3	G	T	10: 50,748,926	V1637L	probably benign	Het
Atad2	G	A	15: 58,114,257	A499V	probably damaging	Het
Barhl2	G	T	5: 106,457,387	A152E	possibly damaging	Het
Bbs12	T	A	3: 37,321,045	D547E	probably damaging	Het
Btaf1	A	G	19: 37,004,534	M1655V	probably damaging	Het
Ccdc50	T	A	16: 27,406,658	H40Q	probably damaging	Het
Ccr9	A	T	9: 123,774,552		probably benign	Het
Cdh15	A	G	8: 122,865,436	D654G	probably damaging	Het
Cebpz	T	C	17: 78,926,124	D758G	probably damaging	Het
Cgn	C	T	3: 94,765,653	R906K	possibly damaging	Het
Chil3	T	A	3: 106,160,523	M109L	possibly damaging	Het
Cntnap4	A	T	8: 112,842,516		probably null	Het
Cyp4f18	C	T	8: 72,001,012		probably benign	Het
Daam2	A	G	17: 49,463,924		probably null	Het
Ddost	T	A	4: 138,310,611	H220Q	probably benign	Het
Dennd2a	C	T	6: 39,464,201		probably benign	Het
Depdc1b	G	A	13: 108,373,841	V296I	possibly damaging	Het
Dnah5	A	T	15: 28,299,110	R1539S	probably benign	Het
Dusp22	T	C	13: 30,705,658	I74T	probably damaging	Het
Dyx1c1	A	T	9: 72,972,336	D386V	probably damaging	Het
E130309D02Rik	G	T	5: 143,307,888	T278K	probably benign	Het
Epc1	A	G	18: 6,440,202		probably benign	Het
Epha7	A	G	4: 28,961,301	I845V	probably benign	Het
Fanci	C	T	7: 79,407,417		probably benign	Het
Fbn1	T	A	2: 125,363,644	E1104V	probably damaging	Het
Fbxo8	T	A	8: 56,590,097	F205L	probably damaging	Het
Fetub	T	C	16: 22,929,756		probably benign	Het
Frs3	T	C	17: 47,703,822	V480A	probably benign	Het
Gne	C	A	4: 44,060,157	E79*	probably null	Het
Hrc	T	A	7: 45,336,497	H357Q	probably benign	Het
Idh1	T	C	1: 65,161,920	M291V	probably damaging	Het
Iltifb	T	A	10: 118,293,185	H133L	probably benign	Het
Ino80b	T	C	6: 83,124,091	E165G	probably damaging	Het
Inppl1	A	T	7: 101,828,499		probably benign	Het
Ip6k2	T	C	9: 108,799,233		probably benign	Het
Itga11	A	T	9: 62,760,346	I654F	probably damaging	Het
Jag2	G	T	12: 112,913,377		probably benign	Het
Katna1	G	T	10: 7,743,749		probably benign	Het
Kcnh4	G	T	11: 100,746,169	S707Y	probably benign	Het
Kcnn2	T	G	18: 45,560,518	L387R	probably damaging	Het
Khnyn	A	G	14: 55,887,968	T503A	probably damaging	Het
Lama5	G	T	2: 180,181,566		probably benign	Het
Lmbr1l	A	T	15: 98,908,773		probably benign	Het
Mast4	A	T	13: 102,754,161	S870T	possibly damaging	Het
Med1	A	G	11: 98,167,574	Y266H	probably benign	Het
Med13	A	T	11: 86,346,003	N109K	probably benign	Het
Mgam	T	C	6: 40,761,035		probably benign	Het
Mmp8	A	G	9: 7,561,454	Q153R	probably benign	Het
Mpeg1	C	A	19: 12,461,691	T171N	probably benign	Het
Mtus2	T	C	5: 148,107,019	S806P	probably benign	Het
Naip2	T	A	13: 100,148,842	E1226V	probably damaging	Het
Naip6	A	G	13: 100,308,213	F246L	possibly damaging	Het
Nav3	T	C	10: 109,767,128	I1187V	possibly damaging	Het
Nbeal1	T	C	1: 60,305,370		probably benign	Het
Nbeal2	C	A	9: 110,638,163	V653L	probably damaging	Het
Ndufa9	G	T	6: 126,827,532		probably benign	Het
Nlrp5	G	T	7: 23,430,157	C883F	probably damaging	Het
Nr0b2	C	A	4: 133,555,992		probably null	Het
Olfr24	T	A	9: 18,755,333	M101L	possibly damaging	Het
Olfr799	T	A	10: 129,647,731	V201E	probably damaging	Het
Olfr822	G	A	10: 130,074,823	V138I	probably benign	Het
Olfr888	T	A	9: 38,109,486	S267T	possibly damaging	Het
Pkhd1	A	T	1: 20,549,822		probably null	Het
Pkhd1l1	A	G	15: 44,522,738		probably benign	Het
Ppm1l	A	G	3: 69,549,461	K237R	probably benign	Het
Ppp1r18	T	C	17: 35,873,711		probably benign	Het
Ptpn3	A	T	4: 57,204,958	D734E	probably benign	Het
Pxdn	T	C	12: 30,015,529	C1283R	probably damaging	Het
Rttn	A	T	18: 89,009,460		probably benign	Het
Sgsm1	G	T	5: 113,263,705	H431Q	probably benign	Het
Siah3	A	G	14: 75,525,927	N206S	possibly damaging	Het
Slc22a15	G	T	3: 101,860,511	D521E	probably benign	Het
Sprr2k	A	T	3: 92,433,463		probably benign	Het
Stab2	G	A	10: 86,967,613		probably benign	Het
Sval3	T	A	6: 41,968,186	L16Q	probably damaging	Het
Sycp2	C	G	2: 178,381,855	S456T	probably benign	Het
Tk1	T	C	11: 117,817,095		probably benign	Het
Tlk2	C	A	11: 105,254,973	A335E	probably benign	Het
Tmtc1	T	C	6: 148,249,581	K659E	probably benign	Het
Tnk2	C	T	16: 32,680,590	P907L	probably benign	Het
Trim14	C	A	4: 46,522,043	K211N	probably damaging	Het
Trim15	A	C	17: 36,866,986	L39R	probably damaging	Het
Tspan15	T	A	10: 62,188,093	T269S	probably benign	Het
Ttc7	T	A	17: 87,361,864	D646E	probably benign	Het
Ttll6	A	T	11: 96,147,556	Q410L	probably benign	Het
Unc79	A	G	12: 103,061,407	Q419R	probably damaging	Het
Vcam1	A	T	3: 116,114,416	Y666N	possibly damaging	Het
Vmn1r10	A	T	6: 57,113,501	Y26F	probably damaging	Het
Vmn1r80	A	G	7: 12,193,848	N295S	probably benign	Het
Vmn2r114	A	T	17: 23,290,943	H854Q	probably benign	Het
Vmn2r2	A	T	3: 64,134,618	D225E	probably damaging	Het
Vmn2r4	A	T	3: 64,389,434	Y643*	probably null	Het
Vmn2r52	T	A	7: 10,159,466	Y582F	probably damaging	Het
Vmn2r60	G	T	7: 42,195,140	L642F	possibly damaging	Het
Zbtb20	T	C	16: 43,609,746	S207P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		probably benign	Het
Zkscan7	G	T	9: 122,888,893	E118*	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
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

Predicted Primers

PCR Primer
(F):5'- TTCATCCCGAGATTCAAAGGCCAC -3'
(R):5'- CAATACCTGGTCCCGCAATACCTG -3'

Sequencing Primer
(F):5'- CTGAACCTGGAATTACTTGATAACC -3'
(R):5'- AGAAGAGCATGTCTTCTTGACTG -3'

Posted On

2013-04-16