Incidental Mutation 'R7689:Eif1ad16'
ID 593288
Institutional Source Beutler Lab
Gene Symbol Eif1ad16
Ensembl Gene ENSMUSG00000096803
Gene Name eukaryotic translation initiation factor 1A domain containing 16
Synonyms Gm6803
MMRRC Submission 045753-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7689 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 87985107-87985541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87985259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 95 (Y95H)
Ref Sequence ENSEMBL: ENSMUSP00000137317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178301]
AlphaFold J3QPI8
Predicted Effect probably damaging
Transcript: ENSMUST00000178301
AA Change: Y95H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137317
Gene: ENSMUSG00000096803
AA Change: Y95H

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
eIF1a 28 110 7.09e-44 SMART
low complexity region 132 144 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,029,440 (GRCm39) F470Y probably damaging Het
Adra1a T C 14: 66,875,250 (GRCm39) L75P probably damaging Het
Agap1 T C 1: 89,762,188 (GRCm39) S560P probably damaging Het
Ahcyl T C 16: 45,974,970 (GRCm39) T136A probably benign Het
Arrdc4 T A 7: 68,391,623 (GRCm39) I215L probably damaging Het
Atad3a C T 4: 155,840,610 (GRCm39) A97T probably damaging Het
Bcas3 A T 11: 85,386,713 (GRCm39) T383S probably benign Het
C2cd5 G A 6: 142,995,951 (GRCm39) R379* probably null Het
Cacna1e G T 1: 154,274,549 (GRCm39) H2138N probably benign Het
Card14 A T 11: 119,216,328 (GRCm39) D303V possibly damaging Het
Ccdc202 T C 14: 96,119,252 (GRCm39) V3A probably benign Het
Cfhr1 T C 1: 139,475,478 (GRCm39) Y331C unknown Het
Chp1 G A 2: 119,415,146 (GRCm39) D183N probably benign Het
Cntn2 T C 1: 132,443,882 (GRCm39) T966A probably benign Het
Cpne9 T G 6: 113,266,965 (GRCm39) C133G probably damaging Het
Cspg4b A G 13: 113,515,948 (GRCm39) T121A Het
Cul7 C T 17: 46,963,747 (GRCm39) Q275* probably null Het
Cyp11b1 T C 15: 74,710,897 (GRCm39) D221G probably benign Het
Dmxl1 T A 18: 49,979,685 (GRCm39) F107I probably benign Het
Dnhd1 A G 7: 105,363,170 (GRCm39) I3911V probably benign Het
Eloa T C 4: 135,736,595 (GRCm39) H551R probably benign Het
Fam171b T A 2: 83,709,732 (GRCm39) V468D probably benign Het
Fat2 A G 11: 55,200,666 (GRCm39) W803R probably damaging Het
Fbxo43 T C 15: 36,163,201 (GRCm39) D2G probably benign Het
Fbxo8 A G 8: 57,041,120 (GRCm39) T179A probably benign Het
Gdap1 A G 1: 17,231,623 (GRCm39) T323A probably damaging Het
Gm136 T C 4: 34,743,875 (GRCm39) N323S probably null Het
Gm6899 A T 11: 26,543,819 (GRCm39) T129S unknown Het
Gnb3 A T 6: 124,814,183 (GRCm39) C166S possibly damaging Het
Gpr61 A G 3: 108,057,966 (GRCm39) F232L probably damaging Het
Gpx8 T C 13: 113,179,711 (GRCm39) M197V probably benign Het
Gse1 G T 8: 121,295,217 (GRCm39) R446L unknown Het
Itch A T 2: 155,054,987 (GRCm39) T764S probably benign Het
Itch A G 2: 155,051,922 (GRCm39) K614E probably damaging Het
Itpkb T G 1: 180,241,544 (GRCm39) M738R probably damaging Het
Jph1 T A 1: 17,074,192 (GRCm39) K609* probably null Het
Kcns1 G A 2: 164,010,241 (GRCm39) R173C probably damaging Het
Larp4b C T 13: 9,186,834 (GRCm39) S54L probably damaging Het
Lonrf1 G T 8: 36,715,918 (GRCm39) S239* probably null Het
Lyst T G 13: 13,857,808 (GRCm39) probably null Het
Mccc1 T A 3: 36,015,132 (GRCm39) R663* probably null Het
Mcm3 A G 1: 20,876,997 (GRCm39) V646A probably benign Het
Mdn1 T C 4: 32,739,912 (GRCm39) L3722P probably damaging Het
Mmp27 T G 9: 7,579,002 (GRCm39) D392E probably damaging Het
Ms4a14 A G 19: 11,279,906 (GRCm39) I884T probably benign Het
Muc4 C T 16: 32,574,439 (GRCm39) T963I probably benign Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Mucl3 C A 17: 35,948,969 (GRCm39) S210I possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ndrg2 C T 14: 52,147,812 (GRCm39) A102T possibly damaging Het
Nhsl3 T C 4: 129,117,566 (GRCm39) N411S probably benign Het
Nos1 A G 5: 118,035,792 (GRCm39) D431G probably damaging Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Otog T C 7: 45,901,480 (GRCm39) L393P probably damaging Het
Plcl1 A G 1: 55,736,627 (GRCm39) N656S probably damaging Het
Pole3 C A 4: 62,443,060 (GRCm39) V27F probably damaging Het
Prrt4 T A 6: 29,177,140 (GRCm39) I210F probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Rbpms A T 8: 34,354,387 (GRCm39) S53T possibly damaging Het
Rgs7 C A 1: 174,949,296 (GRCm39) V203L probably benign Het
Riok1 A T 13: 38,229,263 (GRCm39) D150V probably damaging Het
Rrp1b T C 17: 32,274,900 (GRCm39) L335P probably benign Het
Rsph6a T G 7: 18,801,962 (GRCm39) I592S possibly damaging Het
Skor1 C T 9: 63,052,661 (GRCm39) G436D probably damaging Het
Slc17a8 T C 10: 89,433,319 (GRCm39) T51A possibly damaging Het
Slc22a8 T C 19: 8,585,248 (GRCm39) S266P probably damaging Het
Socs2 A G 10: 95,250,845 (GRCm39) probably benign Het
Tas2r106 A G 6: 131,655,668 (GRCm39) I61T possibly damaging Het
Tfap2a T C 13: 40,882,051 (GRCm39) N77D probably damaging Het
Tmem236 T A 2: 14,197,076 (GRCm39) L88Q probably damaging Het
Ttc41 A G 10: 86,595,088 (GRCm39) E954G probably damaging Het
Vmn1r34 G T 6: 66,613,994 (GRCm39) S248* probably null Het
Wipf1 T C 2: 73,262,789 (GRCm39) R483G probably damaging Het
Zfhx4 A G 3: 5,476,946 (GRCm39) N3187S probably benign Het
Zfp202 C A 9: 40,121,829 (GRCm39) P309T probably benign Het
Zfp39 T C 11: 58,781,469 (GRCm39) H431R probably damaging Het
Zfp658 T A 7: 43,224,102 (GRCm39) H792Q probably benign Het
Other mutations in Eif1ad16
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1602:Eif1ad16 UTSW 12 87,985,134 (GRCm39) missense probably benign 0.00
R1603:Eif1ad16 UTSW 12 87,985,134 (GRCm39) missense probably benign 0.00
R2157:Eif1ad16 UTSW 12 87,985,481 (GRCm39) missense unknown
R2508:Eif1ad16 UTSW 12 87,985,258 (GRCm39) missense probably damaging 1.00
R4092:Eif1ad16 UTSW 12 87,985,194 (GRCm39) missense possibly damaging 0.50
R4328:Eif1ad16 UTSW 12 87,985,285 (GRCm39) missense possibly damaging 0.94
R5022:Eif1ad16 UTSW 12 87,985,481 (GRCm39) missense unknown
R5057:Eif1ad16 UTSW 12 87,985,481 (GRCm39) missense unknown
R5302:Eif1ad16 UTSW 12 87,985,316 (GRCm39) missense probably damaging 1.00
R5360:Eif1ad16 UTSW 12 87,985,265 (GRCm39) missense probably benign 0.03
R5747:Eif1ad16 UTSW 12 87,985,366 (GRCm39) missense possibly damaging 0.93
R6028:Eif1ad16 UTSW 12 87,985,131 (GRCm39) missense possibly damaging 0.70
R6275:Eif1ad16 UTSW 12 87,985,255 (GRCm39) missense probably benign 0.01
R6644:Eif1ad16 UTSW 12 87,985,460 (GRCm39) missense probably benign 0.00
R8691:Eif1ad16 UTSW 12 87,985,278 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCAAGATGCCAATTGTGTTG -3'
(R):5'- CAAGAGTATGCTCAGGTGACC -3'

Sequencing Primer
(F):5'- GCCAATTGTGTTGAGTAATCTTCAG -3'
(R):5'- TATGCTCAGGTGACCAAAATGCTG -3'
Posted On 2019-11-12