Incidental Mutation 'IGL01307:Rbm12'
ID 73498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm12
Ensembl Gene ENSMUSG00000089824
Gene Name RNA binding motif protein 12
Synonyms SWAN, 9430070C08Rik, 5730420G12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.902) question?
Stock # IGL01307
Quality Score
Status
Chromosome 2
Chromosomal Location 155933876-155953847 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to C at 155937302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059647] [ENSMUST00000079312] [ENSMUST00000109604] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000128499] [ENSMUST00000142960] [ENSMUST00000147627] [ENSMUST00000154889] [ENSMUST00000136296] [ENSMUST00000153634] [ENSMUST00000132494] [ENSMUST00000183518] [ENSMUST00000133921] [ENSMUST00000138068] [ENSMUST00000131377] [ENSMUST00000184899] [ENSMUST00000184265] [ENSMUST00000183972] [ENSMUST00000184152]
AlphaFold Q8R4X3
Predicted Effect unknown
Transcript: ENSMUST00000059647
AA Change: V990G
SMART Domains Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: V990G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: V990G
SMART Domains Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: V990G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000142975
Predicted Effect probably benign
Transcript: ENSMUST00000142960
SMART Domains Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 2.4e-11 SMART
C2 123 206 3e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159952
SMART Domains Protein: ENSMUSP00000124101
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162612
SMART Domains Protein: ENSMUSP00000125190
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
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: ENSMUST00000136296
SMART Domains Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
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: ENSMUST00000153634
SMART Domains Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
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: ENSMUST00000132494
SMART Domains Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
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: ENSMUST00000183518
SMART Domains Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 40 4e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000133921
SMART Domains Protein: ENSMUSP00000122644
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Pfam:C2 139 178 3.3e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160165
SMART Domains Protein: ENSMUSP00000124858
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
PDB:1P3W|A 3 28 1e-6 PDB
low complexity region 36 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138068
SMART Domains Protein: ENSMUSP00000119519
Gene: ENSMUSG00000089824

DomainStartEndE-ValueType
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: ENSMUST00000131377
SMART Domains Protein: ENSMUSP00000120731
Gene: ENSMUSG00000089824

DomainStartEndE-ValueType
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: ENSMUST00000184899
SMART Domains Protein: ENSMUSP00000139177
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 54 2e-25 BLAST
SCOP:d2u1a__ 9 68 6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184265
SMART Domains Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183972
Predicted Effect probably benign
Transcript: ENSMUST00000184152
SMART Domains Protein: ENSMUSP00000139035
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,159 (GRCm39) M2302K possibly damaging Het
Actl9 A G 17: 33,653,152 (GRCm39) E404G probably damaging Het
Adamts12 A T 15: 11,237,632 (GRCm39) I314L possibly damaging Het
Card6 C A 15: 5,129,484 (GRCm39) M637I possibly damaging Het
Ccdc122 G A 14: 77,329,516 (GRCm39) probably benign Het
Cdh10 A G 15: 18,899,886 (GRCm39) D71G probably benign Het
Cdk15 A T 1: 59,326,955 (GRCm39) Y214F probably benign Het
Cdon A G 9: 35,368,860 (GRCm39) K365E probably benign Het
Cyp2c37 T C 19: 39,981,023 (GRCm39) V47A probably benign Het
Ddc T A 11: 11,789,462 (GRCm39) D271V probably damaging Het
Dnah6 G A 6: 73,042,708 (GRCm39) A3290V probably damaging Het
Dtl A T 1: 191,302,811 (GRCm39) S20T possibly damaging Het
Egf A C 3: 129,533,642 (GRCm39) I66S probably damaging Het
Eif4a3 T C 11: 119,184,387 (GRCm39) K268E probably damaging Het
Fbxl16 A T 17: 26,038,338 (GRCm39) probably benign Het
Fez2 C T 17: 78,689,029 (GRCm39) probably benign Het
Fras1 C A 5: 96,929,551 (GRCm39) T3985K probably benign Het
Gbp4 T C 5: 105,284,887 (GRCm39) M1V probably null Het
Gpnmb A G 6: 49,022,299 (GRCm39) D143G probably benign Het
Grm5 A T 7: 87,724,220 (GRCm39) T837S probably damaging Het
Hmcn1 T C 1: 150,620,752 (GRCm39) T1153A possibly damaging Het
Hp C T 8: 110,302,415 (GRCm39) V178I probably benign Het
Macf1 A T 4: 123,276,922 (GRCm39) V4061E probably damaging Het
Msto1 C A 3: 88,820,993 (GRCm39) R34L probably benign Het
Mtf2 C T 5: 108,254,756 (GRCm39) T519M probably damaging Het
Myo3a T A 2: 22,448,301 (GRCm39) N25K probably damaging Het
Ncapd2 A G 6: 125,145,582 (GRCm39) V1355A possibly damaging Het
Nhlrc2 C A 19: 56,540,231 (GRCm39) Y73* probably null Het
Nwd2 A T 5: 63,965,626 (GRCm39) S1737C possibly damaging Het
Or1p1 T A 11: 74,180,254 (GRCm39) C261S possibly damaging Het
Osmr A G 15: 6,873,908 (GRCm39) V163A probably damaging Het
Palm3 T C 8: 84,756,074 (GRCm39) S529P possibly damaging Het
Pcnt A G 10: 76,247,422 (GRCm39) Y1037H probably damaging Het
Pkhd1l1 T C 15: 44,393,425 (GRCm39) I1920T possibly damaging Het
Plekha7 A G 7: 115,744,479 (GRCm39) probably benign Het
Psd C T 19: 46,303,097 (GRCm39) G762R probably damaging Het
Psmb8 A G 17: 34,418,210 (GRCm39) T51A probably benign Het
Rictor T A 15: 6,804,085 (GRCm39) probably null Het
Slc24a5 G A 2: 124,922,800 (GRCm39) G158S probably damaging Het
Spata31f1a G T 4: 42,850,963 (GRCm39) L398I probably benign Het
Stag1 A G 9: 100,833,841 (GRCm39) probably benign Het
Tln2 A G 9: 67,302,749 (GRCm39) M74T probably benign Het
Trim24 C A 6: 37,942,570 (GRCm39) D957E possibly damaging Het
Trpa1 A T 1: 14,966,771 (GRCm39) M531K probably benign Het
Ttn A G 2: 76,736,637 (GRCm39) Y4376H possibly damaging Het
Twsg1 T C 17: 66,255,646 (GRCm39) probably benign Het
Usp34 T A 11: 23,367,676 (GRCm39) V1671E probably damaging Het
Vwa5b2 A G 16: 20,423,020 (GRCm39) D1006G probably benign Het
Other mutations in Rbm12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Rbm12 APN 2 155,937,961 (GRCm39) intron probably benign
IGL02474:Rbm12 APN 2 155,940,017 (GRCm39) missense probably damaging 1.00
IGL02596:Rbm12 APN 2 155,937,480 (GRCm39) intron probably benign
IGL02601:Rbm12 APN 2 155,937,480 (GRCm39) intron probably benign
IGL02603:Rbm12 APN 2 155,937,480 (GRCm39) intron probably benign
IGL02608:Rbm12 APN 2 155,937,818 (GRCm39) intron probably benign
IGL02679:Rbm12 APN 2 155,937,480 (GRCm39) intron probably benign
IGL02691:Rbm12 APN 2 155,937,480 (GRCm39) intron probably benign
IGL02693:Rbm12 APN 2 155,937,480 (GRCm39) intron probably benign
IGL02702:Rbm12 APN 2 155,937,480 (GRCm39) intron probably benign
IGL02703:Rbm12 APN 2 155,937,480 (GRCm39) intron probably benign
IGL03407:Rbm12 APN 2 155,939,484 (GRCm39) nonsense probably null
IGL02991:Rbm12 UTSW 2 155,937,480 (GRCm39) intron probably benign
R0310:Rbm12 UTSW 2 155,937,644 (GRCm39) intron probably benign
R1213:Rbm12 UTSW 2 155,939,412 (GRCm39) nonsense probably null
R1280:Rbm12 UTSW 2 155,938,749 (GRCm39) missense probably damaging 1.00
R1511:Rbm12 UTSW 2 155,939,456 (GRCm39) missense probably damaging 0.98
R1951:Rbm12 UTSW 2 155,939,133 (GRCm39) missense probably damaging 0.99
R2131:Rbm12 UTSW 2 155,937,430 (GRCm39) nonsense probably null
R2133:Rbm12 UTSW 2 155,937,430 (GRCm39) nonsense probably null
R2883:Rbm12 UTSW 2 155,938,995 (GRCm39) missense probably damaging 0.98
R4760:Rbm12 UTSW 2 155,939,048 (GRCm39) missense probably damaging 0.99
R4783:Rbm12 UTSW 2 155,938,484 (GRCm39) missense possibly damaging 0.95
R4784:Rbm12 UTSW 2 155,938,484 (GRCm39) missense possibly damaging 0.95
R4785:Rbm12 UTSW 2 155,938,484 (GRCm39) missense possibly damaging 0.95
R4794:Rbm12 UTSW 2 155,937,489 (GRCm39) intron probably benign
R5057:Rbm12 UTSW 2 155,938,806 (GRCm39) missense probably benign 0.18
R5383:Rbm12 UTSW 2 155,945,285 (GRCm39) utr 5 prime probably benign
R5599:Rbm12 UTSW 2 155,938,713 (GRCm39) nonsense probably null
R5979:Rbm12 UTSW 2 155,939,679 (GRCm39) intron probably benign
R6083:Rbm12 UTSW 2 155,939,646 (GRCm39) intron probably benign
R6769:Rbm12 UTSW 2 155,939,375 (GRCm39) missense possibly damaging 0.95
R6771:Rbm12 UTSW 2 155,939,375 (GRCm39) missense possibly damaging 0.95
R7233:Rbm12 UTSW 2 155,937,894 (GRCm39) missense unknown
R7424:Rbm12 UTSW 2 155,939,223 (GRCm39) missense possibly damaging 0.57
R7483:Rbm12 UTSW 2 155,940,138 (GRCm39) missense unknown
R7643:Rbm12 UTSW 2 155,940,137 (GRCm39) missense unknown
R7848:Rbm12 UTSW 2 155,938,136 (GRCm39) missense probably benign 0.01
R8556:Rbm12 UTSW 2 155,938,481 (GRCm39) missense probably damaging 1.00
R8866:Rbm12 UTSW 2 155,938,693 (GRCm39) nonsense probably null
R8875:Rbm12 UTSW 2 155,938,841 (GRCm39) missense probably damaging 1.00
R9054:Rbm12 UTSW 2 155,937,481 (GRCm39) missense unknown
R9115:Rbm12 UTSW 2 155,938,030 (GRCm39) intron probably benign
R9179:Rbm12 UTSW 2 155,938,463 (GRCm39) missense probably benign 0.05
R9262:Rbm12 UTSW 2 155,939,317 (GRCm39) missense possibly damaging 0.49
R9495:Rbm12 UTSW 2 155,939,738 (GRCm39) missense unknown
R9656:Rbm12 UTSW 2 155,940,121 (GRCm39) missense unknown
R9701:Rbm12 UTSW 2 155,938,166 (GRCm39) missense probably benign 0.01
R9759:Rbm12 UTSW 2 155,938,546 (GRCm39) missense probably benign 0.03
RF001:Rbm12 UTSW 2 155,937,995 (GRCm39) intron probably benign
RF021:Rbm12 UTSW 2 155,938,026 (GRCm39) intron probably benign
RF028:Rbm12 UTSW 2 155,938,050 (GRCm39) frame shift probably null
RF029:Rbm12 UTSW 2 155,938,015 (GRCm39) intron probably benign
RF033:Rbm12 UTSW 2 155,938,002 (GRCm39) intron probably benign
RF033:Rbm12 UTSW 2 155,938,000 (GRCm39) intron probably benign
RF033:Rbm12 UTSW 2 155,937,999 (GRCm39) intron probably benign
RF033:Rbm12 UTSW 2 155,938,004 (GRCm39) intron probably benign
RF033:Rbm12 UTSW 2 155,938,003 (GRCm39) intron probably benign
RF038:Rbm12 UTSW 2 155,938,026 (GRCm39) intron probably benign
Posted On 2013-10-07