Incidental Mutation 'R4846:AI837181'
ID 372195
Institutional Source Beutler Lab
Gene Symbol AI837181
Ensembl Gene ENSMUSG00000047423
Gene Name expressed sequence AI837181
Synonyms
MMRRC Submission 042459-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4846 (G1)
Quality Score 212
Status Validated
Chromosome 19
Chromosomal Location 5475172-5477341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5476329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 164 (Q164R)
Ref Sequence ENSEMBL: ENSMUSP00000125651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025853] [ENSMUST00000113673] [ENSMUST00000113674] [ENSMUST00000159759] [ENSMUST00000148219] [ENSMUST00000136579]
AlphaFold Q8VD62
Predicted Effect probably benign
Transcript: ENSMUST00000025853
SMART Domains Protein: ENSMUSP00000025853
Gene: ENSMUSG00000024914

DomainStartEndE-ValueType
Pfam:Histone 4 76 2.1e-8 PFAM
Pfam:CBFD_NFYB_HMF 10 74 1e-20 PFAM
low complexity region 103 123 N/A INTRINSIC
low complexity region 134 155 N/A INTRINSIC
low complexity region 172 194 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000054477
Predicted Effect probably benign
Transcript: ENSMUST00000113673
SMART Domains Protein: ENSMUSP00000109303
Gene: ENSMUSG00000024914

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 1 54 6.7e-14 PFAM
Pfam:Histone 1 56 1.8e-6 PFAM
low complexity region 83 103 N/A INTRINSIC
low complexity region 114 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113674
SMART Domains Protein: ENSMUSP00000109304
Gene: ENSMUSG00000024914

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 10 74 5e-22 PFAM
low complexity region 114 130 N/A INTRINSIC
low complexity region 141 162 N/A INTRINSIC
low complexity region 179 201 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125468
Predicted Effect probably benign
Transcript: ENSMUST00000159759
AA Change: Q164R

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125651
Gene: ENSMUSG00000047423
AA Change: Q164R

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
low complexity region 44 64 N/A INTRINSIC
low complexity region 69 82 N/A INTRINSIC
Pfam:DUF1917 139 259 6.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128542
Predicted Effect probably benign
Transcript: ENSMUST00000148219
SMART Domains Protein: ENSMUSP00000121162
Gene: ENSMUSG00000024914

DomainStartEndE-ValueType
Pfam:Histone 4 76 9.4e-10 PFAM
Pfam:CBFD_NFYB_HMF 10 74 4.5e-22 PFAM
low complexity region 103 123 N/A INTRINSIC
low complexity region 134 155 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136579
SMART Domains Protein: ENSMUSP00000133692
Gene: ENSMUSG00000024914

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 1 54 8.7e-14 PFAM
Pfam:Histone 1 56 2.3e-6 PFAM
low complexity region 83 103 N/A INTRINSIC
low complexity region 114 135 N/A INTRINSIC
low complexity region 152 174 N/A INTRINSIC
Meta Mutation Damage Score 0.0628 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,393,392 (GRCm39) H299L probably damaging Het
Abcb4 C T 5: 8,985,180 (GRCm39) A687V probably benign Het
Abtb3 A G 10: 85,465,130 (GRCm39) T657A probably damaging Het
Adam20 A G 8: 41,248,048 (GRCm39) T53A probably benign Het
Afg1l G A 10: 42,330,490 (GRCm39) T59I probably benign Het
Anapc15 T A 7: 101,546,974 (GRCm39) I12N probably benign Het
Ankrd55 A C 13: 112,499,988 (GRCm39) E278D probably benign Het
Axin2 A G 11: 108,833,125 (GRCm39) T437A probably benign Het
BC051665 T C 13: 60,931,895 (GRCm39) D168G probably damaging Het
Cd200 C T 16: 45,212,664 (GRCm39) R261H probably benign Het
Clk1 G A 1: 58,460,261 (GRCm39) S123L probably benign Het
Csrnp2 A T 15: 100,382,571 (GRCm39) D156E probably damaging Het
Ctss C T 3: 95,452,695 (GRCm39) Q159* probably null Het
Dennd2b C A 7: 109,156,043 (GRCm39) E236* probably null Het
Dip2a A G 10: 76,157,327 (GRCm39) S93P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Ephb6 G A 6: 41,593,743 (GRCm39) R542Q probably benign Het
Fmo3 T C 1: 162,781,880 (GRCm39) D491G possibly damaging Het
Galnt14 A T 17: 73,843,888 (GRCm39) M140K probably benign Het
Ghsr T C 3: 27,425,986 (GRCm39) V14A probably benign Het
Gm17546 C A 15: 95,727,843 (GRCm39) probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hc A G 2: 34,909,682 (GRCm39) V866A probably benign Het
Hoxb6 G A 11: 96,190,348 (GRCm39) G116R probably damaging Het
Hykk A G 9: 54,827,890 (GRCm39) Y43C probably damaging Het
Jade2 T C 11: 51,711,975 (GRCm39) T495A probably benign Het
Kansl1 A T 11: 104,233,798 (GRCm39) V755E possibly damaging Het
Lrp2 T A 2: 69,309,457 (GRCm39) D2814V probably damaging Het
Mbd5 T A 2: 49,147,009 (GRCm39) N406K probably damaging Het
Met A T 6: 17,491,928 (GRCm39) D230V probably damaging Het
Mrgprx2 A T 7: 48,132,584 (GRCm39) V78D probably damaging Het
Mrpl20 A G 4: 155,892,993 (GRCm39) T112A possibly damaging Het
Nek11 T A 9: 105,040,362 (GRCm39) E566D probably damaging Het
Nostrin T C 2: 69,005,923 (GRCm39) S235P probably damaging Het
Npas4 C A 19: 5,036,805 (GRCm39) S453I probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Psg18 A T 7: 18,084,711 (GRCm39) Y128* probably null Het
Ptges3l A T 11: 101,310,010 (GRCm39) probably benign Het
Pus1 T C 5: 110,927,796 (GRCm39) probably benign Het
Raf1 T A 6: 115,621,544 (GRCm39) S12C possibly damaging Het
Rps6-ps2 T G 8: 89,533,206 (GRCm39) noncoding transcript Het
Slc5a4b A G 10: 75,898,073 (GRCm39) L547P probably damaging Het
Socs3 A G 11: 117,858,654 (GRCm39) S135P probably benign Het
Spata31d1e T C 13: 59,890,047 (GRCm39) D591G probably benign Het
Stra6l G A 4: 45,873,682 (GRCm39) V281M possibly damaging Het
Suco G A 1: 161,661,977 (GRCm39) T818I possibly damaging Het
Syde1 A T 10: 78,424,731 (GRCm39) V367D probably damaging Het
Tet3 A T 6: 83,353,865 (GRCm39) L932* probably null Het
Trpm7 G A 2: 126,655,105 (GRCm39) L1278F possibly damaging Het
Vmn1r168 A T 7: 23,240,490 (GRCm39) T116S probably damaging Het
Wfdc6b A G 2: 164,459,214 (GRCm39) Q92R possibly damaging Het
Other mutations in AI837181
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4548:AI837181 UTSW 19 5,475,265 (GRCm39) small insertion probably benign
FR4548:AI837181 UTSW 19 5,475,259 (GRCm39) small insertion probably benign
FR4976:AI837181 UTSW 19 5,475,257 (GRCm39) small insertion probably benign
R0357:AI837181 UTSW 19 5,476,731 (GRCm39) missense possibly damaging 0.49
R1944:AI837181 UTSW 19 5,476,257 (GRCm39) missense probably damaging 0.96
R7269:AI837181 UTSW 19 5,476,462 (GRCm39) missense probably damaging 1.00
R7561:AI837181 UTSW 19 5,476,491 (GRCm39) missense probably damaging 1.00
R7761:AI837181 UTSW 19 5,476,319 (GRCm39) missense probably benign 0.03
R9057:AI837181 UTSW 19 5,476,730 (GRCm39) missense probably damaging 0.98
RF002:AI837181 UTSW 19 5,475,263 (GRCm39) small insertion probably benign
RF002:AI837181 UTSW 19 5,475,262 (GRCm39) small insertion probably benign
RF008:AI837181 UTSW 19 5,475,266 (GRCm39) small insertion probably benign
RF009:AI837181 UTSW 19 5,475,262 (GRCm39) small insertion probably benign
RF011:AI837181 UTSW 19 5,475,264 (GRCm39) small insertion probably benign
RF012:AI837181 UTSW 19 5,475,255 (GRCm39) small insertion probably benign
RF013:AI837181 UTSW 19 5,475,260 (GRCm39) small insertion probably benign
RF021:AI837181 UTSW 19 5,475,262 (GRCm39) small insertion probably benign
RF025:AI837181 UTSW 19 5,475,254 (GRCm39) small insertion probably benign
RF026:AI837181 UTSW 19 5,475,252 (GRCm39) small insertion probably benign
RF030:AI837181 UTSW 19 5,475,263 (GRCm39) small insertion probably benign
RF030:AI837181 UTSW 19 5,475,254 (GRCm39) small insertion probably benign
RF031:AI837181 UTSW 19 5,475,246 (GRCm39) small insertion probably benign
RF033:AI837181 UTSW 19 5,475,265 (GRCm39) small insertion probably benign
RF033:AI837181 UTSW 19 5,475,252 (GRCm39) small insertion probably benign
RF035:AI837181 UTSW 19 5,475,266 (GRCm39) small insertion probably benign
RF038:AI837181 UTSW 19 5,475,264 (GRCm39) small insertion probably benign
RF038:AI837181 UTSW 19 5,475,254 (GRCm39) small insertion probably benign
RF041:AI837181 UTSW 19 5,475,257 (GRCm39) small insertion probably benign
RF042:AI837181 UTSW 19 5,475,265 (GRCm39) small insertion probably benign
RF042:AI837181 UTSW 19 5,475,245 (GRCm39) small insertion probably benign
RF045:AI837181 UTSW 19 5,475,246 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- CTCAAGTTACTCGCTATGGGG -3'
(R):5'- AGCACGAATGGCAGAATCTG -3'

Sequencing Primer
(F):5'- GACCCAGGTTCACCCAACTCTG -3'
(R):5'- CGTGAAGTCGTCCGTGTAAACAC -3'
Posted On 2016-03-01