Incidental Mutation 'R3857:Eif1ad17'
ID 276222
Institutional Source Beutler Lab
Gene Symbol Eif1ad17
Ensembl Gene ENSMUSG00000096049
Gene Name eukaryotic translation initiation factor 1A domain containing 17
Synonyms Gm2075
MMRRC Submission 040785-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.710) question?
Stock # R3857 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 87978618-87979052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87979016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 133 (D133E)
Ref Sequence ENSEMBL: ENSMUSP00000136486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180285]
AlphaFold J3QMW5
Predicted Effect unknown
Transcript: ENSMUST00000180285
AA Change: D133E
SMART Domains Protein: ENSMUSP00000136486
Gene: ENSMUSG00000096049
AA Change: D133E

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
eIF1a 28 110 2.77e-46 SMART
low complexity region 125 144 N/A INTRINSIC
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 92.4%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bdkrb2 T C 12: 105,558,698 (GRCm39) V313A probably benign Het
Ccng1 A G 11: 40,644,660 (GRCm39) L79P probably damaging Het
Celf1 A G 2: 90,843,086 (GRCm39) E411G probably damaging Het
Cps1 A G 1: 67,207,437 (GRCm39) Y582C probably damaging Het
Dnah8 A G 17: 30,882,396 (GRCm39) D656G probably damaging Het
Erc2 A G 14: 28,197,599 (GRCm39) probably benign Het
Ercc8 A G 13: 108,330,648 (GRCm39) E395G possibly damaging Het
Ezhip A G X: 5,994,710 (GRCm39) S102P possibly damaging Het
F13a1 A G 13: 37,209,668 (GRCm39) L99P probably benign Het
Fzd3 A T 14: 65,477,288 (GRCm39) C89S possibly damaging Het
Gse1 T A 8: 121,297,872 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hs3st1 G A 5: 39,772,256 (GRCm39) T129I probably damaging Het
Irx1 A T 13: 72,111,577 (GRCm39) Y11N possibly damaging Het
Kdm3b T A 18: 34,966,440 (GRCm39) I1658N probably benign Het
Mtmr4 G A 11: 87,488,088 (GRCm39) V24M probably damaging Het
Nfatc1 T C 18: 80,708,490 (GRCm39) probably benign Het
Obscn A G 11: 58,971,795 (GRCm39) probably benign Het
Pcna A T 2: 132,091,541 (GRCm39) S261T probably benign Het
Pigr T C 1: 130,774,998 (GRCm39) V475A probably benign Het
Pitpnc1 T C 11: 107,211,631 (GRCm39) probably null Het
Psph A G 5: 129,848,540 (GRCm39) M47T probably damaging Het
Pth2r A T 1: 65,361,206 (GRCm39) I52F probably damaging Het
Rtn4rl2 A G 2: 84,710,730 (GRCm39) probably null Het
Senp6 A G 9: 79,999,603 (GRCm39) T7A possibly damaging Het
Slc4a1 A T 11: 102,247,947 (GRCm39) V349E probably benign Het
Spice1 T C 16: 44,175,806 (GRCm39) S2P probably damaging Het
Spty2d1 G A 7: 46,648,044 (GRCm39) T295I probably benign Het
Thsd7a C T 6: 12,555,225 (GRCm39) G220S probably benign Het
Togaram1 A G 12: 65,027,633 (GRCm39) Q874R possibly damaging Het
Ttn T A 2: 76,739,319 (GRCm39) D3740V probably benign Het
Unc13c G T 9: 73,606,390 (GRCm39) Y1323* probably null Het
Vmn1r19 A T 6: 57,382,098 (GRCm39) Y217F possibly damaging Het
Zfp101 G T 17: 33,601,405 (GRCm39) S79* probably null Het
Zfp512 G T 5: 31,630,184 (GRCm39) R222L probably damaging Het
Zfyve16 A T 13: 92,631,479 (GRCm39) I1372N probably damaging Het
Other mutations in Eif1ad17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02678:Eif1ad17 APN 12 87,978,946 (GRCm39) missense possibly damaging 0.78
IGL03080:Eif1ad17 APN 12 87,978,615 (GRCm39) unclassified probably benign
R5161:Eif1ad17 UTSW 12 87,978,887 (GRCm39) missense possibly damaging 0.92
R5605:Eif1ad17 UTSW 12 87,978,768 (GRCm39) missense probably damaging 1.00
R9178:Eif1ad17 UTSW 12 87,978,786 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTGCCACATAAGAGGAAAGTTG -3'
(R):5'- TGGAATGGCAGTCCCTTAACAG -3'

Sequencing Primer
(F):5'- AAAGGTTTGGATAAATACCTCAGAC -3'
(R):5'- GAATGGCAGTCCCTTAACAGTGTAC -3'
Posted On 2015-04-06