Incidental Mutation 'R7856:Gm4847'
ID 607221
Institutional Source Beutler Lab
Gene Symbol Gm4847
Ensembl Gene ENSMUSG00000051081
Gene Name predicted gene 4847
Synonyms
MMRRC Submission 045909-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R7856 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 166456540-166475262 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 166462395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 365 (L365Q)
Ref Sequence ENSEMBL: ENSMUSP00000039839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046662]
AlphaFold G3X946
Predicted Effect probably damaging
Transcript: ENSMUST00000046662
AA Change: L365Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: L365Q

DomainStartEndE-ValueType
Pfam:FMO-like 3 533 1.4e-235 PFAM
Pfam:Pyr_redox_2 4 241 5.2e-11 PFAM
Pfam:Pyr_redox_3 7 221 6.7e-15 PFAM
Pfam:NAD_binding_8 8 92 1.6e-7 PFAM
Pfam:K_oxygenase 77 333 5.2e-9 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1h T C 17: 25,608,451 (GRCm39) T819A probably damaging Het
Ccdc34 T A 2: 109,874,572 (GRCm39) Y310* probably null Het
Ccdc63 A G 5: 122,268,006 (GRCm39) W8R probably benign Het
Ces2g G A 8: 105,693,014 (GRCm39) V351I not run Het
Ces3b A G 8: 105,819,894 (GRCm39) *572W probably null Het
Dgka T C 10: 128,572,533 (GRCm39) N40S probably benign Het
Dnajc13 C A 9: 104,044,684 (GRCm39) R1835L possibly damaging Het
Dusp7 C A 9: 106,246,067 (GRCm39) A24E unknown Het
Ep400 T A 5: 110,814,450 (GRCm39) T2931S probably damaging Het
Gtse1 C T 15: 85,748,342 (GRCm39) T249M probably benign Het
Hook3 T C 8: 26,525,249 (GRCm39) D619G probably damaging Het
Itsn1 T A 16: 91,705,375 (GRCm39) probably null Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mx1 A G 16: 97,256,735 (GRCm39) I148T probably damaging Het
Or5m3 T A 2: 85,838,640 (GRCm39) N173K probably damaging Het
Or6c1b A G 10: 129,272,885 (GRCm39) E68G probably damaging Het
Orc3 T C 4: 34,585,647 (GRCm39) I416V probably benign Het
Plcxd3 A T 15: 4,546,581 (GRCm39) Y195F probably damaging Het
Ppp1r3a A T 6: 14,718,025 (GRCm39) I963N probably benign Het
Ppp1r7 A G 1: 93,278,068 (GRCm39) D69G possibly damaging Het
Rars1 A G 11: 35,699,412 (GRCm39) V627A probably benign Het
Sash1 A G 10: 8,605,472 (GRCm39) S973P probably benign Het
Slc22a28 T C 19: 8,040,698 (GRCm39) T518A probably damaging Het
Slc4a9 C T 18: 36,661,751 (GRCm39) H92Y probably benign Het
Son A G 16: 91,456,146 (GRCm39) D1631G probably damaging Het
Stat5a T C 11: 100,774,728 (GRCm39) W746R unknown Het
Thsd4 A T 9: 59,910,144 (GRCm39) L508Q probably damaging Het
Tlx1 C T 19: 45,144,427 (GRCm39) Q292* probably null Het
Ttc34 T C 4: 154,945,743 (GRCm39) V259A probably benign Het
Xrn2 T G 2: 146,910,393 (GRCm39) probably null Het
Yif1b A G 7: 28,944,045 (GRCm39) D137G possibly damaging Het
Zfp850 A G 7: 27,689,899 (GRCm39) I103T probably benign Het
Zfp937 T C 2: 150,081,467 (GRCm39) V499A probably benign Het
Other mutations in Gm4847
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00726:Gm4847 APN 1 166,457,961 (GRCm39) missense possibly damaging 0.55
IGL00943:Gm4847 APN 1 166,469,922 (GRCm39) missense probably benign 0.01
IGL00948:Gm4847 APN 1 166,457,907 (GRCm39) missense probably benign 0.01
IGL01146:Gm4847 APN 1 166,462,521 (GRCm39) missense probably damaging 1.00
IGL01345:Gm4847 APN 1 166,462,541 (GRCm39) missense probably damaging 1.00
IGL01654:Gm4847 APN 1 166,465,917 (GRCm39) missense probably damaging 1.00
IGL01817:Gm4847 APN 1 166,462,471 (GRCm39) missense probably damaging 1.00
IGL02028:Gm4847 APN 1 166,469,765 (GRCm39) missense probably benign 0.23
IGL02031:Gm4847 APN 1 166,462,578 (GRCm39) missense probably damaging 1.00
IGL02412:Gm4847 APN 1 166,469,307 (GRCm39) missense probably damaging 0.98
IGL03278:Gm4847 APN 1 166,462,605 (GRCm39) missense probably benign 0.06
Disturbance UTSW 1 166,467,677 (GRCm39) missense probably damaging 1.00
ruckus UTSW 1 166,457,824 (GRCm39) missense probably benign 0.07
PIT4494001:Gm4847 UTSW 1 166,467,587 (GRCm39) missense probably damaging 1.00
R0009:Gm4847 UTSW 1 166,458,055 (GRCm39) missense probably benign 0.00
R0009:Gm4847 UTSW 1 166,458,055 (GRCm39) missense probably benign 0.00
R0121:Gm4847 UTSW 1 166,469,857 (GRCm39) missense probably damaging 1.00
R0492:Gm4847 UTSW 1 166,457,961 (GRCm39) missense probably damaging 1.00
R0973:Gm4847 UTSW 1 166,457,824 (GRCm39) missense probably benign 0.07
R1136:Gm4847 UTSW 1 166,457,935 (GRCm39) missense probably damaging 0.98
R1522:Gm4847 UTSW 1 166,469,219 (GRCm39) missense probably damaging 1.00
R1730:Gm4847 UTSW 1 166,465,908 (GRCm39) missense possibly damaging 0.80
R1818:Gm4847 UTSW 1 166,465,788 (GRCm39) missense probably damaging 1.00
R1819:Gm4847 UTSW 1 166,465,788 (GRCm39) missense probably damaging 1.00
R2145:Gm4847 UTSW 1 166,462,472 (GRCm39) missense probably benign 0.00
R4628:Gm4847 UTSW 1 166,457,964 (GRCm39) missense probably damaging 1.00
R4850:Gm4847 UTSW 1 166,469,908 (GRCm39) missense probably damaging 1.00
R5065:Gm4847 UTSW 1 166,462,359 (GRCm39) missense probably damaging 0.99
R5068:Gm4847 UTSW 1 166,465,953 (GRCm39) missense possibly damaging 0.81
R5493:Gm4847 UTSW 1 166,457,890 (GRCm39) missense probably damaging 1.00
R5500:Gm4847 UTSW 1 166,462,611 (GRCm39) missense probably damaging 1.00
R5990:Gm4847 UTSW 1 166,470,942 (GRCm39) missense probably benign 0.00
R6018:Gm4847 UTSW 1 166,471,017 (GRCm39) missense probably damaging 1.00
R6178:Gm4847 UTSW 1 166,469,905 (GRCm39) missense probably damaging 1.00
R6190:Gm4847 UTSW 1 166,457,892 (GRCm39) missense probably damaging 0.98
R6220:Gm4847 UTSW 1 166,462,541 (GRCm39) missense probably damaging 1.00
R6654:Gm4847 UTSW 1 166,457,956 (GRCm39) missense probably damaging 1.00
R7634:Gm4847 UTSW 1 166,460,249 (GRCm39) missense probably benign
R7796:Gm4847 UTSW 1 166,469,819 (GRCm39) missense probably damaging 0.96
R7877:Gm4847 UTSW 1 166,467,575 (GRCm39) missense possibly damaging 0.48
R8130:Gm4847 UTSW 1 166,465,917 (GRCm39) missense probably damaging 1.00
R8361:Gm4847 UTSW 1 166,469,839 (GRCm39) missense possibly damaging 0.69
R8496:Gm4847 UTSW 1 166,469,761 (GRCm39) missense possibly damaging 0.84
R8935:Gm4847 UTSW 1 166,469,789 (GRCm39) missense probably damaging 1.00
R9023:Gm4847 UTSW 1 166,469,332 (GRCm39) missense probably damaging 1.00
R9055:Gm4847 UTSW 1 166,467,677 (GRCm39) missense probably damaging 1.00
R9310:Gm4847 UTSW 1 166,460,281 (GRCm39) missense probably benign
R9513:Gm4847 UTSW 1 166,462,541 (GRCm39) missense probably damaging 1.00
R9653:Gm4847 UTSW 1 166,467,582 (GRCm39) missense possibly damaging 0.92
X0018:Gm4847 UTSW 1 166,462,519 (GRCm39) missense probably benign 0.24
X0024:Gm4847 UTSW 1 166,460,284 (GRCm39) missense possibly damaging 0.87
Z1177:Gm4847 UTSW 1 166,462,342 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCACTTAGGGAATTGCCACATC -3'
(R):5'- AGAGTTCACCTCAACATCGGC -3'

Sequencing Primer
(F):5'- GGGAATTGCCACATCAATAGTTAGAC -3'
(R):5'- AACATCGGCCATCTTTGAGG -3'
Posted On 2019-12-20