Incidental Mutation 'R4937:Fam114a1'
ID 380459
Institutional Source Beutler Lab
Gene Symbol Fam114a1
Ensembl Gene ENSMUSG00000029185
Gene Name family with sequence similarity 114, member A1
Synonyms 1190001N04Rik, 9130005N14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4937 (G1)
Quality Score 164
Status Not validated
Chromosome 5
Chromosomal Location 65127459-65199217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65137070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 4 (D4E)
Ref Sequence ENSEMBL: ENSMUSP00000119284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031080] [ENSMUST00000139366]
AlphaFold Q9D281
Predicted Effect probably damaging
Transcript: ENSMUST00000031080
AA Change: D4E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031080
Gene: ENSMUSG00000029185
AA Change: D4E

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 damaging
Transcript: ENSMUST00000139366
AA Change: D4E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119284
Gene: ENSMUSG00000029185
AA Change: D4E

DomainStartEndE-ValueType
Pfam:DUF719 121 177 7e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197119
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,067 (GRCm39) F597S probably benign Het
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abca16 G T 7: 120,126,309 (GRCm39) C1155F probably damaging Het
Adam26a T C 8: 44,021,918 (GRCm39) D524G probably damaging Het
Adamts20 G C 15: 94,277,656 (GRCm39) H269D probably benign Het
Akap9 T A 5: 4,100,145 (GRCm39) probably null Het
Akt3 T C 1: 176,877,693 (GRCm39) I358M possibly damaging Het
Aldh9a1 G T 1: 167,189,376 (GRCm39) A375S probably damaging Het
Alg2 A G 4: 47,473,974 (GRCm39) S105P probably benign Het
Amph A G 13: 19,288,515 (GRCm39) T335A probably damaging Het
Ank2 C T 3: 126,756,050 (GRCm39) V1056M probably damaging Het
Apoh A G 11: 108,298,204 (GRCm39) D168G probably benign Het
Arfgef3 C T 10: 18,465,454 (GRCm39) A2130T probably damaging Het
Arhgap30 A G 1: 171,230,897 (GRCm39) D218G probably benign Het
Ascc3 C T 10: 50,699,894 (GRCm39) P1906S probably damaging Het
Atp11b T G 3: 35,861,157 (GRCm39) probably null Het
B4galnt2 A G 11: 95,759,255 (GRCm39) V343A probably damaging Het
Barhl1 T C 2: 28,799,785 (GRCm39) Y280C probably damaging Het
Bcar1 A T 8: 112,447,669 (GRCm39) Y103N probably damaging Het
Bid A G 6: 120,872,707 (GRCm39) I150T probably benign Het
Ccdc171 T C 4: 83,467,876 (GRCm39) S74P probably damaging Het
Ccni A T 5: 93,336,113 (GRCm39) probably null Het
Cct8l1 A G 5: 25,721,891 (GRCm39) E202G probably benign Het
Cd200r3 A G 16: 44,774,622 (GRCm39) K212E probably benign Het
Cdh19 A G 1: 110,817,694 (GRCm39) S683P probably damaging Het
Ces2b A T 8: 105,559,413 (GRCm39) H93L probably benign Het
Cimip2b T A 4: 43,427,514 (GRCm39) Q270L possibly damaging Het
Clec4a1 G A 6: 122,907,654 (GRCm39) C114Y probably damaging Het
Dcc G T 18: 71,675,320 (GRCm39) S636* probably null Het
Dcdc2c T C 12: 28,580,472 (GRCm39) D187G possibly damaging Het
Dgkb G T 12: 38,164,657 (GRCm39) E150* probably null Het
Dhx30 A G 9: 109,915,029 (GRCm39) L884P probably damaging Het
Dmwd T G 7: 18,815,228 (GRCm39) probably null Het
Dnah17 T A 11: 117,932,980 (GRCm39) N3593Y probably damaging Het
Dnm2 G A 9: 21,392,633 (GRCm39) S447N probably benign Het
Elk4 G A 1: 131,945,419 (GRCm39) G99D probably damaging Het
Entpd1 A T 19: 40,727,965 (GRCm39) probably benign Het
Fbln2 A G 6: 91,241,681 (GRCm39) D754G probably damaging Het
Fhip2a T C 19: 57,367,069 (GRCm39) V204A probably benign Het
Foxred2 T C 15: 77,840,035 (GRCm39) N85S probably damaging Het
Fut9 A G 4: 25,799,591 (GRCm39) probably benign Het
Gm1818 G A 12: 48,606,607 (GRCm39) noncoding transcript Het
Gm4894 C A 9: 49,190,000 (GRCm39) Q92K unknown Het
Gpx2 T C 12: 76,839,574 (GRCm39) I141M probably benign Het
Gusb T C 5: 130,024,326 (GRCm39) T476A probably damaging Het
Hmmr G A 11: 40,612,667 (GRCm39) T180I possibly damaging Het
Itgbl1 T C 14: 124,210,780 (GRCm39) Y493H probably benign Het
Klhdc9 G T 1: 171,187,951 (GRCm39) C93* probably null Het
Ldaf1 T C 7: 119,715,535 (GRCm39) S120P probably damaging Het
Lpar3 A G 3: 145,990,506 (GRCm39) K275E probably damaging Het
Lrp1b A G 2: 40,692,897 (GRCm39) probably null Het
Lrrc63 C T 14: 75,322,389 (GRCm39) G572S probably damaging Het
Mapk11 A T 15: 89,030,685 (GRCm39) D98E probably benign Het
Mgat4f T A 1: 134,317,714 (GRCm39) M162K probably benign Het
Net1 G A 13: 3,934,905 (GRCm39) R374W probably damaging Het
Nlrp4g T A 9: 124,354,005 (GRCm38) noncoding transcript Het
Nrap T A 19: 56,335,652 (GRCm39) Y923F probably damaging Het
Or13a20 T A 7: 140,232,534 (GRCm39) M214K probably benign Het
Or4c108 T A 2: 88,803,834 (GRCm39) I134F probably damaging Het
Or6c215 A T 10: 129,637,932 (GRCm39) V154E probably benign Het
Plxnc1 A G 10: 94,677,335 (GRCm39) V964A probably damaging Het
Pmfbp1 A G 8: 110,262,498 (GRCm39) I731V probably benign Het
Polq T A 16: 36,848,274 (GRCm39) S294T probably benign Het
Pomgnt2 T C 9: 121,811,620 (GRCm39) D387G probably benign Het
Pramel25 T C 4: 143,520,407 (GRCm39) V53A possibly damaging Het
Prmt2 G A 10: 76,056,842 (GRCm39) T227I probably damaging Het
Psmd1 T A 1: 86,010,947 (GRCm39) F341I probably damaging Het
Ptpn23 T C 9: 110,221,806 (GRCm39) M127V probably benign Het
Ptprc A G 1: 138,017,238 (GRCm39) F483L probably damaging Het
Rab35 A C 5: 115,778,147 (GRCm39) I38L probably damaging Het
Rapgef6 A G 11: 54,548,143 (GRCm39) T486A probably damaging Het
Rgl3 A T 9: 21,899,004 (GRCm39) C68* probably null Het
Rilpl1 T C 5: 124,653,594 (GRCm39) E189G possibly damaging Het
Rnf217 T C 10: 31,393,520 (GRCm39) I354V probably benign Het
Rspo3 T C 10: 29,382,524 (GRCm39) D50G probably damaging Het
Sbno1 A G 5: 124,512,672 (GRCm39) S1366P possibly damaging Het
Sema3c A G 5: 17,899,684 (GRCm39) D392G probably benign Het
Serpinb9e A T 13: 33,436,935 (GRCm39) Y85F probably benign Het
Shprh C T 10: 11,032,863 (GRCm39) T283I probably benign Het
Sipa1l1 T C 12: 82,388,103 (GRCm39) S110P probably benign Het
Slc16a12 T A 19: 34,652,643 (GRCm39) I168F probably damaging Het
Slc23a3 A G 1: 75,109,268 (GRCm39) S221P probably damaging Het
Slc35b3 A T 13: 39,116,887 (GRCm39) I366K possibly damaging Het
Slc44a5 T C 3: 153,949,252 (GRCm39) probably null Het
Slc5a12 A T 2: 110,450,753 (GRCm39) D316V probably damaging Het
Ssr3 A G 3: 65,299,874 (GRCm39) S29P probably damaging Het
Taf2 G A 15: 54,890,619 (GRCm39) Q1055* probably null Het
Them6 A T 15: 74,593,367 (GRCm39) D75V probably damaging Het
Tom1l2 A G 11: 60,149,744 (GRCm39) S239P probably damaging Het
Tspear A G 10: 77,710,877 (GRCm39) T500A probably damaging Het
Tubgcp6 G A 15: 88,985,752 (GRCm39) A1487V probably damaging Het
Uba7 G A 9: 107,856,190 (GRCm39) V522I possibly damaging Het
Virma C A 4: 11,521,147 (GRCm39) C901* probably null Het
Vmn1r172 A T 7: 23,359,312 (GRCm39) I66F possibly damaging Het
Vmn2r82 A T 10: 79,215,010 (GRCm39) Y331F probably benign Het
Wdr55 G A 18: 36,895,451 (GRCm39) V143I probably benign Het
Zbtb49 A T 5: 38,371,307 (GRCm39) D191E possibly damaging Het
Zfhx4 A G 3: 5,307,071 (GRCm39) H99R probably damaging Het
Zfp1005 C T 2: 150,110,680 (GRCm39) H457Y unknown Het
Zfp560 C T 9: 20,259,263 (GRCm39) C533Y probably damaging Het
Zfp646 C T 7: 127,478,354 (GRCm39) A177V probably benign Het
Zfp653 C T 9: 21,967,074 (GRCm39) E604K 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
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
R5734:Fam114a1 UTSW 5 65,166,389 (GRCm39) missense probably damaging 1.00
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'- GAGCCCATCAGCAGTGCT -3'
(R):5'- TGGACTCTGCACACATAGC -3'

Sequencing Primer
(F):5'- CCCAGAGTTTCTATTGCCATGTAAG -3'
(R):5'- ACATAGCTGTGATCTCAGGC -3'
Posted On 2016-04-15