Incidental Mutation 'IGL02691:Rbm12'
ID 303754
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: 0.897) question?
Stock # IGL02691
Quality Score
Status
Chromosome 2
Chromosomal Location 155933876-155953847 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 155937480 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] [ENSMUST00000132494] [ENSMUST00000147627] [ENSMUST00000154889] [ENSMUST00000133921] [ENSMUST00000142960] [ENSMUST00000183518] [ENSMUST00000136296] [ENSMUST00000153634] [ENSMUST00000131377] [ENSMUST00000138068] [ENSMUST00000184899] [ENSMUST00000184265] [ENSMUST00000184152] [ENSMUST00000183972]
AlphaFold Q8R4X3
Predicted Effect unknown
Transcript: ENSMUST00000059647
AA Change: E931K
SMART Domains Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: E931K

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: E931K
SMART Domains Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: E931K

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: 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: 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: 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: 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: ENSMUST00000183518
SMART Domains Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 40 4e-15 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: 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: 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: 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: 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: 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: 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: ENSMUST00000184152
SMART Domains Protein: ENSMUSP00000139035
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183972
Meta Mutation Damage Score 0.6374 question?
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,655,457 (GRCm39) S40P probably benign Het
Actl9 G T 17: 33,652,092 (GRCm39) V51L probably damaging Het
Adcy6 A T 15: 98,502,185 (GRCm39) F143Y probably damaging Het
Agps A T 2: 75,722,204 (GRCm39) I465F probably benign Het
Armc3 T A 2: 19,240,295 (GRCm39) F17L probably damaging Het
Arsk A C 13: 76,223,069 (GRCm39) M176R probably damaging Het
Asz1 G A 6: 18,076,556 (GRCm39) T212I probably damaging Het
Atp6v1a A G 16: 43,931,982 (GRCm39) I102T probably damaging Het
Bpifb6 T A 2: 153,744,565 (GRCm39) L2Q unknown Het
Cad A G 5: 31,212,638 (GRCm39) Y45C probably damaging Het
Ccdc93 A G 1: 121,414,342 (GRCm39) D451G possibly damaging Het
Cenpj A G 14: 56,789,547 (GRCm39) I834T probably benign Het
Cyp2j12 C T 4: 96,021,231 (GRCm39) probably null Het
Dhx8 G A 11: 101,642,830 (GRCm39) probably benign Het
Dync1i1 A G 6: 5,800,767 (GRCm39) probably benign Het
Ell2 T A 13: 75,904,605 (GRCm39) D99E probably damaging Het
Enpp1 G T 10: 24,587,790 (GRCm39) P34T probably damaging Het
Fras1 T A 5: 96,892,564 (GRCm39) V2888E possibly damaging Het
Gmfg A G 7: 28,144,295 (GRCm39) Y40C probably damaging Het
Gnal T C 18: 67,355,746 (GRCm39) I369T probably damaging Het
Gzmn T C 14: 56,404,370 (GRCm39) T156A probably benign Het
H2-DMb2 A T 17: 34,366,832 (GRCm39) H88L probably benign Het
Ighv7-3 T C 12: 114,117,016 (GRCm39) T49A probably benign Het
Jakmip3 C T 7: 138,628,573 (GRCm39) Q450* probably null Het
Klhl20 A T 1: 160,934,444 (GRCm39) probably benign Het
Klk6 A G 7: 43,477,924 (GRCm39) T99A probably benign Het
Lhx3 A G 2: 26,093,097 (GRCm39) C118R probably damaging Het
Mapkbp1 T C 2: 119,803,655 (GRCm39) probably benign Het
Naa15 A G 3: 51,358,747 (GRCm39) E294G probably damaging Het
Nfia C T 4: 97,970,045 (GRCm39) Q373* probably null Het
Notch2 C A 3: 98,042,923 (GRCm39) Y1429* probably null Het
Oc90 A G 15: 65,754,410 (GRCm39) S252P probably damaging Het
Or56a3b A G 7: 104,771,338 (GRCm39) I225V probably damaging Het
Or8k37 T C 2: 86,469,182 (GRCm39) Y290C probably damaging Het
Pde3b T A 7: 114,107,320 (GRCm39) probably benign Het
Pdss1 G A 2: 22,805,253 (GRCm39) V211I probably benign Het
Phactr1 G T 13: 43,231,213 (GRCm39) M226I probably benign Het
Phf11c A G 14: 59,622,236 (GRCm39) S259P probably damaging Het
Phf20l1 A G 15: 66,476,713 (GRCm39) N269S probably damaging Het
Piezo1 A G 8: 123,228,688 (GRCm39) V229A possibly damaging Het
Plcb2 T C 2: 118,541,444 (GRCm39) K997R probably benign Het
Ppm1m A T 9: 106,072,568 (GRCm39) V449E probably damaging Het
Ppp1r36dn T C 12: 76,498,073 (GRCm39) noncoding transcript Het
Rgs14 A G 13: 55,526,836 (GRCm39) probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Scamp5 G T 9: 57,358,660 (GRCm39) R39S probably damaging Het
Slc5a6 C T 5: 31,199,518 (GRCm39) V15I probably damaging Het
Snx25 A T 8: 46,558,302 (GRCm39) V235E possibly damaging Het
Tdrd1 G T 19: 56,832,284 (GRCm39) E400D probably damaging Het
Tln1 T C 4: 43,539,544 (GRCm39) R1593G probably benign Het
Trdv2-2 T C 14: 54,199,039 (GRCm39) F110L possibly damaging Het
Ush2a A C 1: 188,466,949 (GRCm39) Y2871S probably damaging Het
Vars2 A C 17: 35,971,140 (GRCm39) L592R probably damaging Het
Vipr2 T A 12: 116,099,849 (GRCm39) C239S probably benign Het
Vmn1r200 A T 13: 22,579,428 (GRCm39) D68V probably damaging Het
Vmn1r7 A T 6: 57,001,373 (GRCm39) S296T probably benign Het
Vmn2r95 T C 17: 18,672,120 (GRCm39) I619T probably benign Het
Other mutations in Rbm12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Rbm12 APN 2 155,937,961 (GRCm39) intron probably benign
IGL01307:Rbm12 APN 2 155,937,302 (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
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 2015-04-16