Incidental Mutation 'R6149:Fam114a2'
ID 489082
Institutional Source Beutler Lab
Gene Symbol Fam114a2
Ensembl Gene ENSMUSG00000020523
Gene Name family with sequence similarity 114, member A2
Synonyms 9030624B09Rik, 1810073G14Rik
MMRRC Submission 044296-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R6149 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 57373819-57409443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 57378415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 450 (V450G)
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: V443G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000020831
Gene: ENSMUSG00000020523
AA Change: V443G

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: V450G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104478
Gene: ENSMUSG00000020523
AA Change: V450G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik T A 1: 161,777,211 (GRCm39) R115S probably benign Het
Adgre1 A G 17: 57,752,018 (GRCm39) K589E probably benign Het
Adgrv1 A T 13: 81,330,893 (GRCm39) L74Q probably damaging Het
Avil A G 10: 126,842,451 (GRCm39) I77V probably benign Het
Best2 T C 8: 85,739,896 (GRCm39) E57G probably benign Het
Cacna1a T C 8: 85,296,581 (GRCm39) C1200R probably damaging Het
Catsperb T A 12: 101,516,098 (GRCm39) I578K probably damaging Het
Chsy1 A G 7: 65,775,133 (GRCm39) Y154C probably damaging Het
Chuk A G 19: 44,090,270 (GRCm39) V74A probably damaging Het
Ckb T C 12: 111,638,248 (GRCm39) S49G probably damaging Het
Crtac1 A G 19: 42,272,048 (GRCm39) Y632H unknown Het
Ern1 C A 11: 106,296,641 (GRCm39) E770* probably null Het
Fgf15 C T 7: 144,453,506 (GRCm39) Q125* probably null Het
Frem2 A T 3: 53,458,762 (GRCm39) S2036T probably damaging Het
Fxr2 G A 11: 69,540,030 (GRCm39) V296I probably benign Het
Gm15264 C A 3: 94,640,736 (GRCm39) noncoding transcript Het
Ifi213 A T 1: 173,421,581 (GRCm39) S103T probably benign Het
Igkv5-37 T A 6: 69,940,472 (GRCm39) Q57H probably damaging Het
Il1rap A G 16: 26,530,969 (GRCm39) Y435C probably damaging Het
Kl T A 5: 150,912,318 (GRCm39) M689K possibly damaging Het
Lcor T A 19: 41,573,641 (GRCm39) W799R probably damaging Het
Lnp1 C T 16: 56,737,735 (GRCm39) E118K probably benign Het
Lrif1 A C 3: 106,639,643 (GRCm39) K243Q possibly damaging Het
Lrp1b G T 2: 40,765,165 (GRCm39) probably null Het
Lvrn G A 18: 47,017,499 (GRCm39) V610I probably benign Het
Med1 T C 11: 98,074,679 (GRCm39) K67R possibly damaging Het
Midn T C 10: 79,990,291 (GRCm39) S278P probably damaging Het
Nrap A G 19: 56,377,885 (GRCm39) V35A possibly damaging Het
Nynrin A T 14: 56,091,780 (GRCm39) Q32L possibly damaging Het
Oog1 C T 12: 87,653,043 (GRCm39) T113I possibly damaging Het
Or10ak7 A G 4: 118,791,628 (GRCm39) L139P probably damaging Het
Or10j3 G T 1: 173,031,582 (GRCm39) V220F probably benign Het
Or4x11 C T 2: 89,867,860 (GRCm39) A199V probably benign Het
Or5b21 A T 19: 12,839,723 (GRCm39) I195F probably benign Het
Or6a2 T C 7: 106,600,807 (GRCm39) I87V probably benign Het
Otogl C T 10: 107,717,314 (GRCm39) V386I probably benign Het
Patj A G 4: 98,312,562 (GRCm39) N300S possibly damaging Het
Pcdhb16 T A 18: 37,612,208 (GRCm39) D389E possibly damaging Het
Pdcd6ip T C 9: 113,488,939 (GRCm39) I699V probably benign Het
Pfas A G 11: 68,882,771 (GRCm39) V790A probably benign Het
Plppr4 A T 3: 117,116,043 (GRCm39) C605S probably benign Het
Ppl G A 16: 4,925,460 (GRCm39) Q60* probably null Het
Ppp1r1c A G 2: 79,586,810 (GRCm39) K52R possibly damaging Het
Pramel29 A G 4: 143,933,983 (GRCm39) S375P probably damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Rpe65 G A 3: 159,319,780 (GRCm39) E217K probably benign Het
Rufy4 T C 1: 74,186,892 (GRCm39) I560T probably benign Het
Ryr2 T C 13: 11,683,903 (GRCm39) S3054G probably benign Het
Serpinb6a A T 13: 34,102,343 (GRCm39) L273H probably damaging Het
Sf3b1 A T 1: 55,046,666 (GRCm39) W293R probably damaging Het
Sik1 A T 17: 32,067,771 (GRCm39) S435T possibly damaging Het
Slc2a12 G T 10: 22,540,401 (GRCm39) M85I probably benign Het
Stk36 T C 1: 74,673,388 (GRCm39) S1094P probably benign Het
Tctn1 A T 5: 122,384,649 (GRCm39) Y393N probably benign Het
Tex9 C T 9: 72,369,282 (GRCm39) probably null Het
Thbs2 A G 17: 14,899,942 (GRCm39) probably null Het
Tmprss7 A T 16: 45,494,268 (GRCm39) C412* probably null Het
Tpp1 T C 7: 105,396,934 (GRCm39) T399A probably benign Het
Trim25 T A 11: 88,906,362 (GRCm39) V387D probably benign Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Vill T G 9: 118,887,482 (GRCm39) V82G possibly damaging Het
Vmn1r189 T C 13: 22,286,054 (GRCm39) D261G probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r111 G A 17: 22,767,796 (GRCm39) T567I probably benign Het
Vmn2r60 A G 7: 41,786,400 (GRCm39) Y401C probably damaging Het
Zc3h11a G A 1: 133,566,613 (GRCm39) R69* probably null 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
R2426:Fam114a2 UTSW 11 57,383,906 (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
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'- CTCTGACTACTGAGTAGGGAGAG -3'
(R):5'- GCTTACAACGAGGTTTCCTTCC -3'

Sequencing Primer
(F):5'- TGACTACTGAGTAGGGAGAGTACATC -3'
(R):5'- TTCCAGAGATGACACTTGGC -3'
Posted On 2017-10-10