Incidental Mutation 'R2307:Rrnad1'
ID244619
Institutional Source Beutler Lab
Gene Symbol Rrnad1
Ensembl Gene ENSMUSG00000004896
Gene Nameribosomal RNA adenine dimethylase domain containing 1
SynonymsBC023814
MMRRC Submission 040306-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #R2307 (G1)
Quality Score174
Status Not validated
Chromosome3
Chromosomal Location87922601-87930717 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87926855 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 171 (M171K)
Ref Sequence ENSEMBL: ENSMUSP00000124113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005016] [ENSMUST00000019854] [ENSMUST00000055984] [ENSMUST00000119968] [ENSMUST00000121048] [ENSMUST00000121920] [ENSMUST00000137775] [ENSMUST00000160074] [ENSMUST00000160143] [ENSMUST00000160648] [ENSMUST00000164439]
Predicted Effect possibly damaging
Transcript: ENSMUST00000005016
AA Change: M171K

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000005016
Gene: ENSMUSG00000004896
AA Change: M171K

DomainStartEndE-ValueType
Pfam:Methyltransf_32 133 293 1.5e-29 PFAM
low complexity region 385 402 N/A INTRINSIC
low complexity region 412 426 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019854
SMART Domains Protein: ENSMUSP00000019854
Gene: ENSMUSG00000019710

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
KOW 55 82 7.17e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000055984
SMART Domains Protein: ENSMUSP00000059783
Gene: ENSMUSG00000048039

DomainStartEndE-ValueType
low complexity region 128 145 N/A INTRINSIC
low complexity region 157 168 N/A INTRINSIC
EXOIII 193 359 3.34e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119968
SMART Domains Protein: ENSMUSP00000114111
Gene: ENSMUSG00000019710

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
KOW 55 82 7.17e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121048
SMART Domains Protein: ENSMUSP00000113959
Gene: ENSMUSG00000019710

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
KOW 55 82 7.17e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121920
SMART Domains Protein: ENSMUSP00000112885
Gene: ENSMUSG00000019710

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
KOW 55 82 7.17e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137775
SMART Domains Protein: ENSMUSP00000142071
Gene: ENSMUSG00000019710

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
PDB:4CE4|Y 17 62 5e-21 PDB
SCOP:d1jj2s_ 24 54 2e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160068
Predicted Effect possibly damaging
Transcript: ENSMUST00000160074
AA Change: M107K

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125365
Gene: ENSMUSG00000004896
AA Change: M107K

DomainStartEndE-ValueType
Pfam:Methyltransf_32 69 229 1.3e-29 PFAM
low complexity region 321 338 N/A INTRINSIC
low complexity region 348 362 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000160143
AA Change: M171K

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124113
Gene: ENSMUSG00000004896
AA Change: M171K

DomainStartEndE-ValueType
Pfam:Methyltransf_32 133 247 5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161471
Predicted Effect probably benign
Transcript: ENSMUST00000164439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168070
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T C 12: 55,304,316 F137L probably damaging Het
Acot5 T C 12: 84,075,601 F320L possibly damaging Het
Alox12e T C 11: 70,321,261 K170R probably damaging Het
Ano2 T C 6: 125,992,886 S722P probably benign Het
Cep192 A G 18: 67,813,899 Y215C probably benign Het
Ces2g A G 8: 104,968,412 N555S probably benign Het
Cfap58 C T 19: 47,962,486 Q429* probably null Het
Clcnkb A G 4: 141,412,329 S121P probably damaging Het
Cltb T A 13: 54,598,751 E67D probably damaging Het
Ddhd1 A T 14: 45,608,990 L581Q probably damaging Het
Dnajc3 T C 14: 118,953,221 probably null Het
Fgf14 T A 14: 123,983,822 N190I probably damaging Het
Galnt17 T G 5: 130,900,622 Y449S probably damaging Het
Grin3a C T 4: 49,793,033 probably null Het
Gxylt2 A G 6: 100,787,212 N286S probably damaging Het
H2-K1 A G 17: 33,997,139 V120A probably benign Het
Inpp5f T C 7: 128,694,310 V168A probably damaging Het
Kif1a G T 1: 93,078,769 H59N probably damaging Het
Krt24 T C 11: 99,284,630 Q193R possibly damaging Het
Krtap5-4 C A 7: 142,303,614 S7* probably null Het
Ltn1 A G 16: 87,432,424 probably null Het
Mcm2 G A 6: 88,893,008 R60C probably damaging Het
Mep1b A T 18: 21,088,575 D194V probably damaging Het
Orc3 C T 4: 34,586,503 V382M probably damaging Het
Pclo T A 5: 14,678,651 probably benign Het
Pcolce T C 5: 137,609,094 H45R probably damaging Het
Prf1 T C 10: 61,303,163 V300A possibly damaging Het
Prss53 T C 7: 127,890,865 I18V probably benign Het
Rnase2b A G 14: 51,162,731 T90A probably benign Het
Rpap1 G A 2: 119,783,766 P50L probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,579,908 probably benign Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Sec16b G A 1: 157,535,492 V298I probably damaging Het
Smarcd3 C T 5: 24,595,748 R156Q probably damaging Het
St6galnac2 C T 11: 116,681,905 A242T probably damaging Het
Syce1l T C 8: 113,643,305 probably null Het
Tcam1 T C 11: 106,284,114 C132R probably damaging Het
Trpa1 T C 1: 14,912,381 I84V probably benign Het
Ttn G A 2: 76,886,998 R455* probably null Het
Ubl5 T A 9: 20,646,580 probably benign Het
Ubr2 T A 17: 46,966,215 K779* probably null Het
Ugt1a10 A G 1: 88,055,947 I156V probably benign Het
Unc13b A G 4: 43,239,854 T3513A probably damaging Het
Vmn1r20 C T 6: 57,432,136 T149I probably benign Het
Zfp804a T A 2: 82,256,857 D343E probably benign Het
Other mutations in Rrnad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1775:Rrnad1 UTSW 3 87923817 missense probably damaging 0.99
R2165:Rrnad1 UTSW 3 87927053 critical splice donor site probably null
R3957:Rrnad1 UTSW 3 87926828 missense possibly damaging 0.82
R4651:Rrnad1 UTSW 3 87927672 missense probably benign
R4663:Rrnad1 UTSW 3 87927748 missense probably damaging 1.00
R4818:Rrnad1 UTSW 3 87924998 missense probably benign 0.32
R5387:Rrnad1 UTSW 3 87930011 intron probably benign
R5427:Rrnad1 UTSW 3 87924332 unclassified probably benign
R7032:Rrnad1 UTSW 3 87924342 critical splice donor site probably null
R7048:Rrnad1 UTSW 3 87929860 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCTTACTCCATAGTCCCAGC -3'
(R):5'- CTTAGCGATCTCACTGGCTG -3'

Sequencing Primer
(F):5'- TTACTCCATAGTCCCAGCCAAGC -3'
(R):5'- ACTGGCTGCACCCAAGTTG -3'
Posted On2014-10-30