Incidental Mutation 'R8733:Rbm18'
ID 662844
Institutional Source Beutler Lab
Gene Symbol Rbm18
Ensembl Gene ENSMUSG00000026889
Gene Name RNA binding motif protein 18
Synonyms 2010004P11Rik
MMRRC Submission 068581-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.867) question?
Stock # R8733 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 36006091-36026716 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36024211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 17 (S17P)
Ref Sequence ENSEMBL: ENSMUSP00000028251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028250] [ENSMUST00000028251] [ENSMUST00000122456] [ENSMUST00000132042] [ENSMUST00000134668] [ENSMUST00000200733]
AlphaFold Q9CR83
Predicted Effect probably benign
Transcript: ENSMUST00000028250
SMART Domains Protein: ENSMUSP00000028250
Gene: ENSMUSG00000026887

DomainStartEndE-ValueType
low complexity region 58 66 N/A INTRINSIC
Pfam:RRF 99 261 3.1e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000028251
AA Change: S17P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028251
Gene: ENSMUSG00000026889
AA Change: S17P

DomainStartEndE-ValueType
RRM 26 102 1.5e-18 SMART
Predicted Effect unknown
Transcript: ENSMUST00000122456
AA Change: S17P
SMART Domains Protein: ENSMUSP00000113204
Gene: ENSMUSG00000026889
AA Change: S17P

DomainStartEndE-ValueType
SCOP:d1h6kx_ 23 40 5e-3 SMART
low complexity region 88 98 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132042
Predicted Effect probably damaging
Transcript: ENSMUST00000134668
AA Change: S17P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117831
Gene: ENSMUSG00000026889
AA Change: S17P

DomainStartEndE-ValueType
Pfam:RRM_1 27 67 1e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200733
AA Change: S17P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,249,627 (GRCm39) L1106P probably damaging Het
Alx3 C G 3: 107,512,135 (GRCm39) P258A probably damaging Het
Bbs9 A G 9: 22,582,128 (GRCm39) T607A probably benign Het
Catsperg1 A T 7: 28,891,111 (GRCm39) V644E possibly damaging Het
Cep85 T C 4: 133,875,472 (GRCm39) K499E possibly damaging Het
Chd5 A T 4: 152,463,923 (GRCm39) H1464L probably damaging Het
Chrne A G 11: 70,507,856 (GRCm39) L281P probably damaging Het
Col3a1 A G 1: 45,379,472 (GRCm39) probably benign Het
Cpsf4l A G 11: 113,600,279 (GRCm39) F13L possibly damaging Het
Dgcr8 T C 16: 18,077,825 (GRCm39) I603V probably benign Het
Dhx16 A G 17: 36,192,267 (GRCm39) D102G probably benign Het
Dnm1 G T 2: 32,206,987 (GRCm39) D564E probably benign Het
Dync1li1 T A 9: 114,534,178 (GRCm39) Y93N probably damaging Het
Esp31 A G 17: 38,955,509 (GRCm39) I51V probably benign Het
Grap G T 11: 61,562,517 (GRCm39) A163S possibly damaging Het
Hgs G A 11: 120,360,954 (GRCm39) probably null Het
Icosl A T 10: 77,909,697 (GRCm39) N214I probably damaging Het
Ints6 G A 14: 62,934,297 (GRCm39) P737S probably benign Het
Irag1 C T 7: 110,477,425 (GRCm39) V564M probably benign Het
Lima1 A G 15: 99,678,699 (GRCm39) S581P probably damaging Het
Lrfn2 G A 17: 49,403,824 (GRCm39) R649H probably damaging Het
Muc5b A G 7: 141,417,532 (GRCm39) T3493A possibly damaging Het
Mup4 A T 4: 59,958,587 (GRCm39) N104K probably damaging Het
Nedd4 T C 9: 72,633,766 (GRCm39) V424A possibly damaging Het
Or10ag55-ps1 A T 2: 87,115,116 (GRCm39) I161F probably benign Het
Or6c88 T A 10: 129,406,579 (GRCm39) D18E possibly damaging Het
Or8d23 A G 9: 38,841,985 (GRCm39) I173V probably benign Het
Otop1 G A 5: 38,457,117 (GRCm39) R292H probably damaging Het
Otop1 T A 5: 38,457,796 (GRCm39) C518* probably null Het
Parp3 C T 9: 106,353,150 (GRCm39) V9M probably benign Het
Pcdhb20 C T 18: 37,638,437 (GRCm39) A321V probably damaging Het
Pik3c2g C T 6: 139,714,426 (GRCm39) Q311* probably null Het
Pkd1l1 A T 11: 8,883,657 (GRCm39) V855D Het
Polr2k T A 15: 36,176,913 (GRCm39) D97E probably benign Het
Psmd11 A G 11: 80,325,342 (GRCm39) probably benign Het
Ralgapa2 G A 2: 146,266,683 (GRCm39) T631M probably damaging Het
Ralgps1 C A 2: 33,174,836 (GRCm39) probably null Het
Rcc1 C A 4: 132,065,515 (GRCm39) L49F probably benign Het
Rgma T C 7: 73,059,036 (GRCm39) S63P possibly damaging Het
Scn1a T A 2: 66,154,944 (GRCm39) I672L probably benign Het
Sema4c T C 1: 36,591,954 (GRCm39) T270A probably damaging Het
Serac1 A G 17: 6,100,303 (GRCm39) L479P probably damaging Het
Slc22a16 A G 10: 40,450,061 (GRCm39) M187V probably benign Het
Slc41a3 A T 6: 90,610,710 (GRCm39) T191S possibly damaging Het
Slu7 G A 11: 43,334,167 (GRCm39) V398M probably damaging Het
Sphk1 A G 11: 116,426,451 (GRCm39) T136A probably benign Het
Sqstm1 G T 11: 50,101,493 (GRCm39) P31Q possibly damaging Het
Trappc11 A T 8: 47,954,883 (GRCm39) V885D probably damaging Het
Trav6-1 T A 14: 52,876,213 (GRCm39) Y44* probably null Het
Trav9-2 T A 14: 53,828,755 (GRCm39) C42S probably damaging Het
Zc2hc1a A G 3: 7,593,168 (GRCm39) T194A probably benign Het
Zfp729a A G 13: 67,769,104 (GRCm39) V375A probably damaging Het
Other mutations in Rbm18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Rbm18 APN 2 36,024,184 (GRCm39) nonsense probably null
IGL02962:Rbm18 APN 2 36,012,886 (GRCm39) missense probably damaging 1.00
R5061:Rbm18 UTSW 2 36,017,217 (GRCm39) missense possibly damaging 0.50
R7211:Rbm18 UTSW 2 36,012,905 (GRCm39) nonsense probably null
R8088:Rbm18 UTSW 2 36,017,196 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- AGTCGTCCTCACAGTTGTG -3'
(R):5'- CAGAGAGCATGCCTTCCTTG -3'

Sequencing Primer
(F):5'- AAGTGCAGCATGTCCCCTTTAGAG -3'
(R):5'- AGAGAGCATGCCTTCCTTGGATATG -3'
Posted On 2021-03-08