Incidental Mutation 'R2358:Gm10696'
ID 246998
Institutional Source Beutler Lab
Gene Symbol Gm10696
Ensembl Gene ENSMUSG00000074424
Gene Name predicted gene 10696
Synonyms
MMRRC Submission 040340-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.921) question?
Stock # R2358 (G1)
Quality Score 220
Status Not validated
Chromosome 3
Chromosomal Location 94174412-94178193 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94175547 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 319 (A319V)
Ref Sequence ENSEMBL: ENSMUSP00000132199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161475] [ENSMUST00000167916]
AlphaFold Q3UTC4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159115
Predicted Effect possibly damaging
Transcript: ENSMUST00000161475
AA Change: A319V

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124942
Gene: ENSMUSG00000074424
AA Change: A319V

DomainStartEndE-ValueType
MATH 24 130 4.7e-10 SMART
BTB 188 287 1.53e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000167916
AA Change: A319V

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132199
Gene: ENSMUSG00000074424
AA Change: A319V

DomainStartEndE-ValueType
MATH 24 130 4.7e-10 SMART
BTB 188 287 1.53e-25 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 CGG CG 5: 124,077,305 probably null Het
Aif1l T A 2: 31,969,751 F94L probably damaging Het
Ankzf1 C T 1: 75,195,251 H209Y probably damaging Het
Ate1 A T 7: 130,516,165 M30K probably damaging Het
Cd27 A G 6: 125,233,318 Y189H probably damaging Het
Cela1 A G 15: 100,681,228 I183T probably benign Het
Copg2 A T 6: 30,826,233 L259* probably null Het
Efcab7 T A 4: 99,831,586 probably benign Het
Fcrl5 A G 3: 87,446,419 E357G probably damaging Het
Fzr1 C T 10: 81,367,640 probably null Het
Il12rb2 C T 6: 67,298,195 A649T probably damaging Het
Itfg1 C A 8: 85,738,129 V438F probably damaging Het
Jaml A C 9: 45,101,063 I283L possibly damaging Het
Kif28 A T 1: 179,709,459 H486Q probably damaging Het
Lrch4 A G 5: 137,638,548 probably benign Het
Lrfn2 A G 17: 49,071,160 E423G possibly damaging Het
Lrp4 T A 2: 91,501,954 N1665K probably benign Het
Mrpl32 A T 13: 14,610,580 V157E probably damaging Het
Mta3 A G 17: 83,762,988 I193V probably damaging Het
Myom2 G A 8: 15,112,018 V984I possibly damaging Het
Nedd4l G A 18: 65,209,719 V909I possibly damaging Het
Nlrp4a A G 7: 26,464,198 D930G probably benign Het
Olfr121 T A 17: 37,752,380 C175* probably null Het
Olfr1351 T C 10: 79,018,188 F289L probably damaging Het
Olfr74 A T 2: 87,973,722 N314K probably benign Het
Ovch2 A T 7: 107,794,915 H110Q probably damaging Het
Pcnx3 G A 19: 5,683,339 Q155* probably null Het
Pcnx3 C G 19: 5,683,340 L1F probably null Het
Pi4k2a G A 19: 42,090,692 R64Q probably damaging Het
Ptpn12 G A 5: 20,998,692 P363S probably damaging Het
Rbm27 T C 18: 42,292,112 probably benign Het
Ripor3 A G 2: 167,983,865 probably benign Het
Rpl13-ps3 A G 14: 58,893,816 noncoding transcript Het
Sap18b G A 8: 95,825,563 R67H probably benign Het
Sdhb T C 4: 140,973,000 V137A probably damaging Het
Shmt2 T C 10: 127,518,028 T459A probably benign Het
Siglecg A G 7: 43,409,422 S200G possibly damaging Het
Slc6a15 T G 10: 103,416,785 I603S probably benign Het
Smtn A T 11: 3,532,865 probably null Het
Spata31d1a G A 13: 59,703,888 S142L probably benign Het
Spopl C T 2: 23,537,380 R221Q probably damaging Het
St5 A T 7: 109,556,446 S366T probably benign Het
Strip1 A G 3: 107,615,819 V633A probably benign Het
Sun2 A G 15: 79,727,913 S522P possibly damaging Het
Tectb C G 19: 55,180,999 probably benign Het
Terb2 T A 2: 122,198,432 C157S probably benign Het
Themis T A 10: 28,863,380 N615K possibly damaging Het
Tlnrd1 A T 7: 83,882,280 D314E probably benign Het
Vmn1r205 T A 13: 22,592,396 T179S probably benign Het
Vsig10l G A 7: 43,468,761 R689H probably benign Het
Wt1 G A 2: 105,163,428 probably benign Het
Zfp423 G T 8: 87,780,551 A1034D possibly damaging Het
Zfy2 T C Y: 2,107,272 E454G possibly damaging Het
Zyg11a G T 4: 108,196,146 Q440K possibly damaging Het
Other mutations in Gm10696
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01744:Gm10696 APN 3 94176237 missense probably damaging 1.00
IGL02057:Gm10696 APN 3 94176355 missense probably damaging 1.00
R1983:Gm10696 UTSW 3 94176294 missense possibly damaging 0.89
R2102:Gm10696 UTSW 3 94175666 nonsense probably null
R2110:Gm10696 UTSW 3 94175527 missense probably damaging 0.99
R2172:Gm10696 UTSW 3 94176298 missense possibly damaging 0.68
R2358:Gm10696 UTSW 3 94175548 missense possibly damaging 0.61
R4534:Gm10696 UTSW 3 94176450 missense probably benign 0.39
R4939:Gm10696 UTSW 3 94176233 nonsense probably null
R4961:Gm10696 UTSW 3 94175534 nonsense probably null
R4993:Gm10696 UTSW 3 94176316 missense probably damaging 1.00
R7154:Gm10696 UTSW 3 94176219 missense probably benign 0.17
R7218:Gm10696 UTSW 3 94175549 missense possibly damaging 0.91
R7256:Gm10696 UTSW 3 94176360 missense probably benign 0.01
R7464:Gm10696 UTSW 3 94176104 missense probably benign 0.08
R7473:Gm10696 UTSW 3 94176202 nonsense probably null
R7596:Gm10696 UTSW 3 94176430 missense probably benign 0.12
R7974:Gm10696 UTSW 3 94175541 missense probably benign 0.18
R8419:Gm10696 UTSW 3 94175614 missense probably benign 0.06
R8497:Gm10696 UTSW 3 94175812 missense possibly damaging 0.93
R8519:Gm10696 UTSW 3 94176190 missense probably benign 0.05
R8686:Gm10696 UTSW 3 94176120 missense probably benign 0.01
R9223:Gm10696 UTSW 3 94175643 missense probably damaging 1.00
R9748:Gm10696 UTSW 3 94175848 missense probably damaging 0.99
Z1177:Gm10696 UTSW 3 94176102 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGGAAGACAGATGTTGGTCATAGC -3'
(R):5'- TGGGCTTCATCTACACTGGG -3'

Sequencing Primer
(F):5'- ACAGATGTTGGTCATAGCTGTCCATC -3'
(R):5'- TTCATCTACACTGGGAAGGCG -3'
Posted On 2014-10-30