Incidental Mutation 'R2025:Gm14685'
ID220556
Institutional Source Beutler Lab
Gene Symbol Gm14685
Ensembl Gene ENSMUSG00000067771
Gene Namepredicted gene 14685
Synonyms
MMRRC Submission 040034-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R2025 (G1)
Quality Score170
Status Not validated
ChromosomeX
Chromosomal Location73117047-73129262 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 73127655 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 218 (G218C)
Ref Sequence ENSEMBL: ENSMUSP00000137311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088459] [ENSMUST00000179117] [ENSMUST00000179600]
Predicted Effect probably damaging
Transcript: ENSMUST00000088459
AA Change: G218C

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085806
Gene: ENSMUSG00000067771
AA Change: G218C

DomainStartEndE-ValueType
PDB:3PMI|D 377 508 2e-35 PDB
low complexity region 675 688 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179117
AA Change: G218C

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137311
Gene: ENSMUSG00000067771
AA Change: G218C

DomainStartEndE-ValueType
PDB:3PMI|D 377 508 2e-35 PDB
low complexity region 675 688 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179600
SMART Domains Protein: ENSMUSP00000137006
Gene: ENSMUSG00000058328

DomainStartEndE-ValueType
low complexity region 42 53 N/A INTRINSIC
Pfam:Cor1 76 204 7.4e-24 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik T C 2: 148,782,228 F41L probably damaging Het
Abcc4 T C 14: 118,553,325 M757V probably benign Het
Acan T G 7: 79,101,222 S1914A probably benign Het
Axin2 T A 11: 108,943,078 V617D probably damaging Het
Bhlhe22 A G 3: 18,055,811 S342G probably benign Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,746,173 probably null Het
Ccdc34 A G 2: 110,032,386 K179E possibly damaging Het
Clasp1 A G 1: 118,504,899 T208A probably damaging Het
Crabp1 C T 9: 54,768,468 R112* probably null Het
D130040H23Rik A G 8: 69,302,873 N310S probably benign Het
Dalrd3 T C 9: 108,571,085 I278T probably benign Het
Dbp C A 7: 45,708,276 D89E probably benign Het
Dennd2c A G 3: 103,131,689 D51G possibly damaging Het
Dido1 A T 2: 180,689,181 L158* probably null Het
Disp1 G T 1: 183,088,203 F884L probably damaging Het
Dmrtb1 T C 4: 107,683,585 D193G probably damaging Het
Dnah8 A G 17: 30,731,159 D1984G probably damaging Het
Dpf2 T C 19: 5,902,753 Y218C possibly damaging Het
Dsg4 C T 18: 20,466,636 Q770* probably null Het
Efemp1 A T 11: 28,914,696 Y250F possibly damaging Het
Erbin A T 13: 103,830,195 I1249N probably benign Het
F5 A G 1: 164,209,475 K1928E probably benign Het
Fam160a2 A G 7: 105,388,936 V260A probably damaging Het
Fam206a T A 4: 56,805,916 I138N probably damaging Het
Gdf11 T A 10: 128,891,445 I81F probably damaging Het
Gm10518 T A 1: 179,803,918 probably benign Het
Grb10 G C 11: 11,970,576 S14* probably null Het
Greb1l A T 18: 10,515,221 Y562F possibly damaging Het
Gtf2ird1 T C 5: 134,363,934 E789G probably damaging Het
Hook3 T C 8: 26,038,098 E588G probably damaging Het
Hpx A G 7: 105,595,104 S266P probably damaging Het
Hs6st3 A G 14: 119,869,389 D403G probably damaging Het
Igf2bp1 A G 11: 95,974,170 V151A possibly damaging Het
Itga11 C T 9: 62,762,811 T739I probably damaging Het
Kalrn T C 16: 34,189,736 I702V probably damaging Het
Kif2b C T 11: 91,577,346 S37N probably damaging Het
Kng2 T A 16: 23,000,575 D237V probably benign Het
Krtap27-1 C A 16: 88,671,285 V124L possibly damaging Het
Lig4 A T 8: 9,972,436 L448Q probably damaging Het
Macf1 C T 4: 123,371,918 A4821T probably damaging Het
Msh5 T A 17: 35,032,792 I431F possibly damaging Het
Ndufa10 A G 1: 92,439,892 Y339H probably damaging Het
Nin T A 12: 70,030,008 Q1091L probably damaging Het
Nom1 A C 5: 29,446,851 D729A probably damaging Het
Olfr671 C A 7: 104,975,244 G247V probably benign Het
P2ry14 A T 3: 59,115,445 V207E probably damaging Het
Pdss2 A T 10: 43,393,875 N238I possibly damaging Het
Pkn1 A G 8: 83,671,378 V795A probably damaging Het
Pla2g6 A C 15: 79,286,764 L804R probably damaging Het
Poglut1 A T 16: 38,537,905 probably null Het
Prkcz A T 4: 155,289,710 V83D probably damaging Het
Prss50 T C 9: 110,861,260 F157S probably benign Het
Psors1c2 A G 17: 35,534,202 probably benign Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rab7 G A 6: 88,004,179 L174F probably damaging Het
Rapgef4 A G 2: 72,242,739 T790A probably benign Het
Rb1cc1 G T 1: 6,245,309 V503L probably damaging Het
Sbf1 T A 15: 89,302,730 E815V probably damaging Het
Setd3 T A 12: 108,160,267 E104V probably damaging Het
Slc39a5 A T 10: 128,398,410 L208Q probably damaging Het
Slc39a5 G T 10: 128,398,411 L208M probably damaging Het
Slc3a1 T G 17: 85,032,845 Y232D probably damaging Het
Slc8a1 T A 17: 81,649,112 S166C probably damaging Het
Stard9 T A 2: 120,702,398 D3045E probably benign Het
Stk4 C A 2: 164,096,831 D206E probably damaging Het
Syn3 T C 10: 86,466,982 D103G probably damaging Het
Tbc1d30 T A 10: 121,279,146 Y369F probably benign Het
Tenm2 G T 11: 36,047,264 Y1527* probably null Het
Tfg T C 16: 56,705,625 K85R possibly damaging Het
Timp3 T C 10: 86,300,885 L11P probably damaging Het
Tmem144 A T 3: 79,827,711 probably null Het
Tmtc4 T C 14: 122,921,265 N682S probably benign Het
Tnks2 C T 19: 36,866,066 L464F probably damaging Het
Trank1 T C 9: 111,392,039 F2615L probably benign Het
Trio T C 15: 27,744,137 K2570E probably damaging Het
Trio T A 15: 27,773,927 D673V probably damaging Het
Ublcp1 A T 11: 44,465,631 C87S probably benign Het
Unc13a C T 8: 71,639,768 E1386K possibly damaging Het
Wdr41 C T 13: 95,018,948 H404Y probably damaging Het
Zfp280b T C 10: 76,038,494 L69S probably damaging Het
Zfp346 T C 13: 55,132,308 S282P probably damaging Het
Zfp579 C A 7: 4,993,521 E464* probably null Het
Zfp78 T A 7: 6,375,514 probably null Het
Zswim9 T C 7: 13,269,366 E186G probably damaging Het
Other mutations in Gm14685
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1162:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1178:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1416:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1422:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1498:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1520:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1544:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1674:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1774:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1888:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1888:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1984:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R1999:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R2026:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R2054:Gm14685 UTSW X 73127655 missense probably damaging 0.97
R5068:Gm14685 UTSW X 73127971 missense probably damaging 0.99
R5069:Gm14685 UTSW X 73127971 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTCCAAAGGTTCCAAAAGAG -3'
(R):5'- ATCTCTAGGCCAGCACACTG -3'

Sequencing Primer
(F):5'- AGCTCCAGCCTAGGTCAG -3'
(R):5'- GAGCTTTGGGTGAGATAGAG -3'
Posted On2014-08-25