Incidental Mutation 'R2426:Fam114a2'
ID 250238
Institutional Source Beutler Lab
Gene Symbol Fam114a2
Ensembl Gene ENSMUSG00000020523
Gene Name family with sequence similarity 114, member A2
Synonyms 9030624B09Rik, 1810073G14Rik
MMRRC Submission 040388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R2426 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 57373819-57409443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57383906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 343 (P343L)
Ref Sequence ENSEMBL: ENSMUSP00000104478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020831] [ENSMUST00000108850]
AlphaFold Q8VE88
Predicted Effect probably benign
Transcript: ENSMUST00000020831
AA Change: P336L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020831
Gene: ENSMUSG00000020523
AA Change: P336L

DomainStartEndE-ValueType
Pfam:DUF719 68 236 5e-72 PFAM
low complexity region 263 275 N/A INTRINSIC
low complexity region 338 355 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108850
AA Change: P343L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104478
Gene: ENSMUSG00000020523
AA Change: P343L

DomainStartEndE-ValueType
Pfam:DUF719 77 243 4.5e-71 PFAM
low complexity region 270 282 N/A INTRINSIC
low complexity region 345 362 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G T 7: 119,882,446 (GRCm39) V1203L probably benign Het
Adamtsl1 G A 4: 86,075,025 (GRCm39) V131I probably benign Het
Adgra3 A T 5: 50,166,791 (GRCm39) M187K possibly damaging Het
Agbl1 T C 7: 76,071,650 (GRCm39) V324A probably damaging Het
Ahnak A T 19: 8,980,215 (GRCm39) I500F possibly damaging Het
Aldh1l1 A G 6: 90,575,266 (GRCm39) D851G probably damaging Het
Amot T C X: 144,259,287 (GRCm39) K460E probably damaging Het
Arhgef3 G T 14: 27,106,138 (GRCm39) E161* probably null Het
Atg9b A T 5: 24,591,992 (GRCm39) I669N probably damaging Het
Ccdc83 A G 7: 89,877,639 (GRCm39) Y268H probably damaging Het
Cep170 A G 1: 176,602,201 (GRCm39) S302P probably benign Het
Cyp4a31 T A 4: 115,428,213 (GRCm39) M303K probably damaging Het
Cyp4v3 T A 8: 45,770,813 (GRCm39) Y231F probably benign Het
Defa39 T G 8: 22,192,653 (GRCm39) K114N possibly damaging Het
Dock3 A T 9: 106,791,740 (GRCm39) L1411Q possibly damaging Het
Dsg1a T A 18: 20,469,861 (GRCm39) I629N probably damaging Het
Dst A T 1: 34,231,893 (GRCm39) H2837L probably benign Het
Fbrs A G 7: 127,086,511 (GRCm39) probably null Het
Fbxl13 A C 5: 21,727,135 (GRCm39) D620E probably damaging Het
Frmd4a T A 2: 4,534,673 (GRCm39) S164T probably damaging Het
Gdi2 T G 13: 3,612,034 (GRCm39) S330A probably benign Het
Gm5878 A T 6: 85,095,613 (GRCm39) M70K probably benign Het
H2-Q6 G T 17: 35,643,913 (GRCm39) A21S probably benign Het
Hfm1 A T 5: 106,995,519 (GRCm39) probably null Het
Hnmt C T 2: 23,909,167 (GRCm39) C82Y probably benign Het
Il1rl1 C A 1: 40,485,779 (GRCm39) A310D probably damaging Het
Ints1 A T 5: 139,757,569 (GRCm39) probably null Het
Kcne4 C A 1: 78,795,688 (GRCm39) A112E possibly damaging Het
Krt32 T C 11: 99,977,192 (GRCm39) K236R possibly damaging Het
Maml2 T C 9: 13,617,794 (GRCm39) L380P probably damaging Het
Meis1 A T 11: 18,938,356 (GRCm39) D218E possibly damaging Het
Mon1b G A 8: 114,365,752 (GRCm39) G360D probably damaging Het
Mpp4 A G 1: 59,169,216 (GRCm39) S383P probably damaging Het
Neb A G 2: 52,059,065 (GRCm39) probably null Het
Nlgn2 A T 11: 69,717,912 (GRCm39) I431N probably damaging Het
Nr2e1 A G 10: 42,439,481 (GRCm39) L134P probably damaging Het
Opcml G A 9: 28,814,663 (GRCm39) probably null Het
Or2t29 A T 11: 58,433,920 (GRCm39) Y127* probably null Het
Or6c207 T C 10: 129,105,135 (GRCm39) Q19R probably benign Het
Or7c19 T C 8: 85,957,693 (GRCm39) S190P probably damaging Het
Pate2 A T 9: 35,581,776 (GRCm39) probably null Het
Pgr G A 9: 8,900,718 (GRCm39) V84M probably damaging Het
Pigu A T 2: 155,141,002 (GRCm39) V296D probably damaging Het
Plcb2 G A 2: 118,546,130 (GRCm39) T555M probably damaging Het
Pld5 T G 1: 175,791,542 (GRCm39) D426A probably benign Het
Prdm2 G T 4: 142,838,320 (GRCm39) C1679* probably null Het
Psme2b A T 11: 48,836,890 (GRCm39) V19D probably benign Het
Ptpn9 A T 9: 56,934,712 (GRCm39) N159Y possibly damaging Het
Sanbr T A 11: 23,526,801 (GRCm39) R190W probably damaging Het
Sdc3 A T 4: 130,546,114 (GRCm39) T64S unknown Het
Serping1 T G 2: 84,600,563 (GRCm39) S260R probably damaging Het
Slc20a1 T C 2: 129,050,150 (GRCm39) F436S probably benign Het
Sntb1 A T 15: 55,769,575 (GRCm39) I138N probably damaging Het
Sorcs3 A T 19: 48,711,364 (GRCm39) Y643F probably damaging Het
Spink1 G T 18: 43,868,287 (GRCm39) S23* probably null Het
Stag1 T C 9: 100,727,169 (GRCm39) probably null Het
Tnfaip8l1 G A 17: 56,479,030 (GRCm39) V107I probably benign Het
Tnik A G 3: 28,700,830 (GRCm39) S907G probably damaging Het
Ttf1 T A 2: 28,957,197 (GRCm39) M489K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp54 G A 14: 20,615,008 (GRCm39) A811V probably benign Het
Xirp2 A G 2: 67,344,815 (GRCm39) N2352S probably benign Het
Zan T C 5: 137,387,254 (GRCm39) Y4933C unknown Het
Zbtb8a A G 4: 129,254,012 (GRCm39) S161P probably benign Het
Zkscan5 A T 5: 145,157,750 (GRCm39) I751L probably benign Het
Zscan4d A G 7: 10,899,022 (GRCm39) F85S probably damaging Het
Zzef1 A G 11: 72,806,091 (GRCm39) M2647V probably benign Het
Other mutations in Fam114a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Fam114a2 APN 11 57,378,413 (GRCm39) missense probably damaging 1.00
IGL00943:Fam114a2 APN 11 57,405,099 (GRCm39) start codon destroyed probably null 1.00
IGL01809:Fam114a2 APN 11 57,404,461 (GRCm39) critical splice donor site probably null
IGL01972:Fam114a2 APN 11 57,400,220 (GRCm39) missense probably damaging 1.00
IGL02541:Fam114a2 APN 11 57,390,627 (GRCm39) missense probably benign 0.41
R0010:Fam114a2 UTSW 11 57,404,982 (GRCm39) missense probably damaging 1.00
R1594:Fam114a2 UTSW 11 57,404,066 (GRCm39) critical splice donor site probably null
R1645:Fam114a2 UTSW 11 57,390,621 (GRCm39) missense probably benign 0.00
R3021:Fam114a2 UTSW 11 57,390,625 (GRCm39) missense probably benign 0.01
R3107:Fam114a2 UTSW 11 57,390,561 (GRCm39) missense probably benign 0.39
R6149:Fam114a2 UTSW 11 57,378,415 (GRCm39) missense probably benign 0.05
R6248:Fam114a2 UTSW 11 57,383,942 (GRCm39) missense possibly damaging 0.51
R6306:Fam114a2 UTSW 11 57,404,972 (GRCm39) missense probably damaging 1.00
R6933:Fam114a2 UTSW 11 57,374,897 (GRCm39) missense probably benign 0.04
R7485:Fam114a2 UTSW 11 57,404,515 (GRCm39) missense probably damaging 1.00
R7486:Fam114a2 UTSW 11 57,404,515 (GRCm39) missense probably damaging 1.00
R7487:Fam114a2 UTSW 11 57,404,515 (GRCm39) missense probably damaging 1.00
R7531:Fam114a2 UTSW 11 57,404,542 (GRCm39) missense probably benign
R7601:Fam114a2 UTSW 11 57,405,042 (GRCm39) missense possibly damaging 0.62
R7662:Fam114a2 UTSW 11 57,398,391 (GRCm39) missense probably damaging 1.00
R8033:Fam114a2 UTSW 11 57,398,333 (GRCm39) missense probably damaging 0.99
R9335:Fam114a2 UTSW 11 57,397,748 (GRCm39) missense possibly damaging 0.94
RF024:Fam114a2 UTSW 11 57,383,859 (GRCm39) missense probably benign 0.00
Z1177:Fam114a2 UTSW 11 57,404,084 (GRCm39) missense probably benign 0.05
Z1186:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1186:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1186:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1186:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1186:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1187:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1187:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1187:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1187:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1187:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1188:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1188:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1188:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1188:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1188:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1189:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1189:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1189:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1189:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1189:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1190:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1190:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1190:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1190:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1190:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1191:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1191:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1191:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1191:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1191:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1192:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1192:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1192:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1192:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1192:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTCACCTACGTGTGAGTGTAG -3'
(R):5'- AGCCATTGGACAGGATTCAGTG -3'

Sequencing Primer
(F):5'- CAGTGATATCTGGGGAATCCTCC -3'
(R):5'- CCATTGGACAGGATTCAGTGTAAGG -3'
Posted On 2014-11-12