Incidental Mutation 'R5734:Fam114a1'
ID 451579
Institutional Source Beutler Lab
Gene Symbol Fam114a1
Ensembl Gene ENSMUSG00000029185
Gene Name family with sequence similarity 114, member A1
Synonyms 1190001N04Rik, 9130005N14Rik
MMRRC Submission 043348-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5734 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 65127459-65199217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65166389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 240 (M240T)
Ref Sequence ENSEMBL: ENSMUSP00000031080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031080] [ENSMUST00000139366]
AlphaFold Q9D281
Predicted Effect probably damaging
Transcript: ENSMUST00000031080
AA Change: M240T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031080
Gene: ENSMUSG00000029185
AA Change: M240T

DomainStartEndE-ValueType
Pfam:DUF719 125 300 5e-65 PFAM
low complexity region 355 365 N/A INTRINSIC
low complexity region 413 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139366
SMART Domains Protein: ENSMUSP00000119284
Gene: ENSMUSG00000029185

DomainStartEndE-ValueType
Pfam:DUF719 121 177 7e-16 PFAM
Meta Mutation Damage Score 0.9033 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A G 9: 46,215,303 (GRCm39) probably benign Het
Abcc9 A G 6: 142,571,457 (GRCm39) probably benign Het
Adamts2 G A 11: 50,679,494 (GRCm39) G825R probably damaging Het
Adgre1 A T 17: 57,750,990 (GRCm39) R555W probably benign Het
Apob T A 12: 8,038,781 (GRCm39) V398D probably damaging Het
Arid4b A G 13: 14,334,856 (GRCm39) N355S probably benign Het
Asb3 G T 11: 30,979,021 (GRCm39) D143Y probably damaging Het
Birc6 G A 17: 74,925,419 (GRCm39) probably benign Het
Cacna1a A G 8: 85,310,360 (GRCm39) M1425V probably damaging Het
Capn9 A G 8: 125,332,583 (GRCm39) E474G probably damaging Het
Capza2 T C 6: 17,660,764 (GRCm39) S155P probably damaging Het
Ccdc125 A G 13: 100,823,622 (GRCm39) N202S possibly damaging Het
Ccn1 A G 3: 145,354,023 (GRCm39) C256R probably damaging Het
Chrm5 T A 2: 112,310,445 (GRCm39) T224S probably benign Het
Chtop C T 3: 90,409,422 (GRCm39) probably null Het
Clip1 T C 5: 123,753,217 (GRCm39) probably benign Het
Dbx2 T C 15: 95,552,604 (GRCm39) T14A possibly damaging Het
Dcaf8 T C 1: 172,000,478 (GRCm39) V212A possibly damaging Het
Fat1 T C 8: 45,504,246 (GRCm39) Y4580H probably damaging Het
Glipr1 G A 10: 111,821,698 (GRCm39) R200* probably null Het
Gm6408 A T 5: 146,419,192 (GRCm39) Y69F probably benign Het
Gpt2 T C 8: 86,249,885 (GRCm39) S456P probably benign Het
Kat8 T C 7: 127,519,751 (GRCm39) F225S probably benign Het
Lactb2 T A 1: 13,730,611 (GRCm39) N22Y probably damaging Het
Lin28a A T 4: 133,735,284 (GRCm39) C67* probably null Het
Mtarc2 T C 1: 184,564,786 (GRCm39) E155G probably benign Het
Myoz3 G A 18: 60,712,543 (GRCm39) T104M possibly damaging Het
Nek9 C T 12: 85,350,289 (GRCm39) M928I probably benign Het
Nlrp9a G C 7: 26,270,065 (GRCm39) A831P probably damaging Het
Nop53 T C 7: 15,679,887 (GRCm39) probably null Het
Ofcc1 T A 13: 40,241,325 (GRCm39) T728S probably damaging Het
Pabpc4l T A 3: 46,401,124 (GRCm39) probably null Het
Rbm34 T C 8: 127,696,880 (GRCm39) probably null Het
Relch T C 1: 105,631,608 (GRCm39) probably benign Het
Robo2 C T 16: 74,149,672 (GRCm39) C52Y probably damaging Het
Rpgr G A X: 10,032,511 (GRCm39) P857L probably benign Het
Scn2a A G 2: 65,548,066 (GRCm39) Y57C possibly damaging Het
Selp C T 1: 163,971,460 (GRCm39) probably benign Het
Skp2 T C 15: 9,139,566 (GRCm39) D43G possibly damaging Het
Smad5 T A 13: 56,871,617 (GRCm39) S71T probably damaging Het
Sorcs1 G T 19: 50,171,213 (GRCm39) H892N probably benign Het
Sox6 C T 7: 115,140,856 (GRCm39) probably null Het
St3gal1 A T 15: 66,978,522 (GRCm39) I333N probably damaging Het
Tex15 C A 8: 34,036,364 (GRCm39) Q97K probably benign Het
Tnxb A T 17: 34,917,884 (GRCm39) T2266S possibly damaging Het
Tpbgl C A 7: 99,274,949 (GRCm39) G303C probably damaging Het
Trat1 A T 16: 48,555,304 (GRCm39) S143T possibly damaging Het
Trpm8 T A 1: 88,283,002 (GRCm39) V763E probably benign Het
Ttc21a G A 9: 119,795,732 (GRCm39) D1189N probably benign Het
Usp7 T C 16: 8,519,845 (GRCm39) N178D possibly damaging Het
Zfp217 T C 2: 169,961,064 (GRCm39) D421G possibly damaging Het
Zfp382 T C 7: 29,833,855 (GRCm39) F502S probably damaging Het
Other mutations in Fam114a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Fam114a1 APN 5 65,137,347 (GRCm39) missense probably benign 0.31
IGL01013:Fam114a1 APN 5 65,188,738 (GRCm39) critical splice donor site probably null
IGL02032:Fam114a1 APN 5 65,172,714 (GRCm39) missense probably benign 0.11
IGL02117:Fam114a1 APN 5 65,187,465 (GRCm39) missense probably benign 0.08
IGL02388:Fam114a1 APN 5 65,166,323 (GRCm39) unclassified probably benign
IGL02563:Fam114a1 APN 5 65,163,491 (GRCm39) splice site probably null
IGL02803:Fam114a1 APN 5 65,163,135 (GRCm39) splice site probably benign
R1183:Fam114a1 UTSW 5 65,191,731 (GRCm39) missense probably damaging 1.00
R2073:Fam114a1 UTSW 5 65,153,247 (GRCm39) critical splice donor site probably null
R2086:Fam114a1 UTSW 5 65,137,402 (GRCm39) missense probably benign 0.39
R3834:Fam114a1 UTSW 5 65,163,416 (GRCm39) missense possibly damaging 0.65
R4519:Fam114a1 UTSW 5 65,163,225 (GRCm39) missense probably benign
R4749:Fam114a1 UTSW 5 65,166,409 (GRCm39) missense probably damaging 1.00
R4937:Fam114a1 UTSW 5 65,137,070 (GRCm39) missense probably damaging 0.97
R5038:Fam114a1 UTSW 5 65,166,388 (GRCm39) missense probably damaging 1.00
R5096:Fam114a1 UTSW 5 65,137,234 (GRCm39) missense probably benign
R5368:Fam114a1 UTSW 5 65,163,452 (GRCm39) missense possibly damaging 0.52
R5460:Fam114a1 UTSW 5 65,185,776 (GRCm39) missense probably damaging 0.99
R6242:Fam114a1 UTSW 5 65,188,695 (GRCm39) missense probably damaging 0.98
R6950:Fam114a1 UTSW 5 65,137,322 (GRCm39) missense possibly damaging 0.88
R7460:Fam114a1 UTSW 5 65,196,050 (GRCm39) missense possibly damaging 0.51
R7570:Fam114a1 UTSW 5 65,187,402 (GRCm39) splice site probably null
R8913:Fam114a1 UTSW 5 65,185,821 (GRCm39) missense possibly damaging 0.77
R9095:Fam114a1 UTSW 5 65,188,733 (GRCm39) missense probably benign 0.08
R9171:Fam114a1 UTSW 5 65,191,713 (GRCm39) critical splice acceptor site probably null
R9203:Fam114a1 UTSW 5 65,137,300 (GRCm39) missense probably damaging 1.00
R9318:Fam114a1 UTSW 5 65,153,227 (GRCm39) missense possibly damaging 0.77
R9640:Fam114a1 UTSW 5 65,166,394 (GRCm39) missense probably damaging 0.99
R9656:Fam114a1 UTSW 5 65,163,246 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AATAGATGATCTATCTCGTGGTGTG -3'
(R):5'- AATCATCAACCTTGCCCGTC -3'

Sequencing Primer
(F):5'- CTATCTCGTGGTGTGAAAAACTTG -3'
(R):5'- TCTCCCACAAGGACTTCGGTG -3'
Posted On 2017-01-03