Incidental Mutation 'R9759:Rbm12'
ID 732893
Institutional Source Beutler Lab
Gene Symbol Rbm12
Ensembl Gene ENSMUSG00000089824
Gene Name RNA binding motif protein 12
Synonyms SWAN, 9430070C08Rik, 5730420G12Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # R9759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 155933876-155953847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155938546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 575 (H575Q)
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 probably benign
Transcript: ENSMUST00000059647
AA Change: H575Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: H575Q

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 probably benign
Transcript: ENSMUST00000109604
AA Change: H575Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: H575Q

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
SMART Domains Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950
AA Change: H486Q

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 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: ENSMUST00000132494
AA Change: H575Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
AA Change: H575Q

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: 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: 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: 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: 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: 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: 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: ENSMUST00000154889
SMART Domains Protein: ENSMUSP00000118140
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 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: 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: 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: ENSMUST00000183518
SMART Domains Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
C2 6 112 3.64e-9 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: ENSMUST00000184899
SMART Domains Protein: ENSMUSP00000139177
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Blast:RRM_2 4 54 2e-25 BLAST
SCOP:d2u1a__ 9 68 6e-3 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik G T 13: 119,615,989 (GRCm39) W508L probably damaging Het
Abt1 G T 13: 23,606,439 (GRCm39) Q172K probably damaging Het
Aoah C A 13: 21,000,738 (GRCm39) H57Q probably damaging Het
Cpxm2 T C 7: 131,756,242 (GRCm39) E34G probably benign Het
Ddx25 C T 9: 35,457,265 (GRCm39) R350Q probably benign Het
Dnah9 G A 11: 65,965,944 (GRCm39) H1691Y probably null Het
Doc2g A T 19: 4,056,571 (GRCm39) H319L probably benign Het
Enah A C 1: 181,841,911 (GRCm39) V6G unknown Het
Fam135b T G 15: 71,335,689 (GRCm39) T502P probably benign Het
Frem2 A G 3: 53,562,918 (GRCm39) S530P possibly damaging Het
Gm19410 A G 8: 36,252,938 (GRCm39) R628G possibly damaging Het
Hdac7 T C 15: 97,699,989 (GRCm39) T614A probably benign Het
Ift88 T A 14: 57,672,256 (GRCm39) L32* probably null Het
Insm2 C T 12: 55,647,390 (GRCm39) T378M possibly damaging Het
Kctd3 G A 1: 188,710,786 (GRCm39) T459M probably damaging Het
Khsrp A G 17: 57,332,925 (GRCm39) L188P probably benign Het
Kynu A G 2: 43,569,881 (GRCm39) I388V probably benign Het
Met T C 6: 17,555,561 (GRCm39) V1090A probably damaging Het
Mier1 C T 4: 103,019,725 (GRCm39) T483I probably benign Het
Mthfsd A G 8: 121,824,615 (GRCm39) S297P probably benign Het
P2rx5 A T 11: 73,058,341 (GRCm39) I259F probably damaging Het
Pax3 A G 1: 78,170,415 (GRCm39) L138P probably damaging Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Scube1 C T 15: 83,492,465 (GRCm39) R953H probably benign Het
Sirt1 A G 10: 63,156,516 (GRCm39) S705P probably benign Het
Slc23a3 ATT ATTT 1: 75,109,925 (GRCm39) probably null Het
Slc46a3 T C 5: 147,823,234 (GRCm39) T203A probably benign Het
Snta1 G T 2: 154,222,889 (GRCm39) T278K probably benign Het
Stac3 A G 10: 127,344,083 (GRCm39) D327G possibly damaging Het
Timm44 C A 8: 4,317,707 (GRCm39) E205* probably null Het
Timm8a2 A T 14: 122,272,216 (GRCm39) T40S probably damaging Het
Vmn2r116 A G 17: 23,620,360 (GRCm39) N698S possibly damaging Het
Zik1 A C 7: 10,223,716 (GRCm39) C460W possibly damaging Het
Zmynd8 A C 2: 165,680,746 (GRCm39) I229S possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CACTGGTACTGCAGGATTACC -3'
(R):5'- GATTCGAAAACGACTTCAGAACTTC -3'

Sequencing Primer
(F):5'- TTTCCTTGGGCTGGGGG -3'
(R):5'- TTCAGAACTTCAGCTATGACCAGAGG -3'
Posted On 2022-11-14