Incidental Mutation 'R0579:Glt28d2'
ID 56348
Institutional Source Beutler Lab
Gene Symbol Glt28d2
Ensembl Gene ENSMUSG00000031286
Gene Name glycosyltransferase 28 domain containing 2
Synonyms 4732486J07Rik
MMRRC Submission 038769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R0579 (G1)
Quality Score 118
Status Validated
Chromosome 3
Chromosomal Location 85777156-85794823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85779440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 11 (T11I)
Ref Sequence ENSEMBL: ENSMUSP00000033643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033643] [ENSMUST00000154148]
AlphaFold Q8BML3
Predicted Effect probably damaging
Transcript: ENSMUST00000033643
AA Change: T11I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033643
Gene: ENSMUSG00000031286
AA Change: T11I

DomainStartEndE-ValueType
Pfam:Glyco_tran_28_C 3 159 2.6e-31 PFAM
Pfam:Glyco_trans_1_3 4 137 5.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146862
Predicted Effect probably benign
Transcript: ENSMUST00000154148
SMART Domains Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

DomainStartEndE-ValueType
Arfaptin 1 227 7.15e-121 SMART
Meta Mutation Damage Score 0.4598 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 89% (34/38)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Abcf3 G A 16: 20,369,398 (GRCm39) R260Q probably benign Het
Abcg3 A G 5: 105,121,969 (GRCm39) V136A probably damaging Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Ambra1 A G 2: 91,654,810 (GRCm39) N783S possibly damaging Het
Cd300ld2 A G 11: 114,903,125 (GRCm39) F240S probably benign Het
Cep83 A G 10: 94,584,915 (GRCm39) D340G possibly damaging Het
Crybg2 T A 4: 133,800,049 (GRCm39) I403N probably damaging Het
Dnah14 T A 1: 181,572,312 (GRCm39) M2881K possibly damaging Het
Erbb4 T C 1: 68,081,621 (GRCm39) M1138V probably benign Het
Evi5 A G 5: 107,969,575 (GRCm39) V112A probably benign Het
F2r A G 13: 95,754,857 (GRCm39) V9A probably benign Het
Flot1 C A 17: 36,141,900 (GRCm39) S337R probably benign Het
Gm19345 A G 7: 19,588,901 (GRCm39) probably benign Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Hmgcs2 A T 3: 98,198,264 (GRCm39) I56F probably damaging Het
Ifna9 T A 4: 88,510,508 (GRCm39) T39S possibly damaging Het
Il21 T G 3: 37,281,923 (GRCm39) K74Q possibly damaging Het
Itpripl1 G T 2: 126,983,011 (GRCm39) Y370* probably null Het
Kif24 G A 4: 41,393,706 (GRCm39) P1056S probably damaging Het
L2hgdh A T 12: 69,748,046 (GRCm39) probably benign Het
Lipo2 A T 19: 33,724,298 (GRCm39) L156Q probably damaging Het
Nlrp4c T A 7: 6,063,844 (GRCm39) M84K probably benign Het
Npy4r G A 14: 33,868,640 (GRCm39) T216I probably benign Het
Or12d17 T C 17: 37,777,238 (GRCm39) V47A probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or6c1 A T 10: 129,518,106 (GRCm39) C167* probably null Het
Pafah1b2 T C 9: 45,880,011 (GRCm39) E222G probably benign Het
Pop1 T A 15: 34,510,115 (GRCm39) D406E possibly damaging Het
Proser1 A G 3: 53,374,572 (GRCm39) Y32C probably damaging Het
Ptprj C A 2: 90,266,913 (GRCm39) probably null Het
Slc1a3 T A 15: 8,717,793 (GRCm39) I100F probably damaging Het
Slc25a22 T C 7: 141,011,272 (GRCm39) D176G probably damaging Het
Stard7 T C 2: 127,126,473 (GRCm39) V99A probably damaging Het
Stk33 C T 7: 108,924,904 (GRCm39) V184I probably damaging Het
Timmdc1 A G 16: 38,342,745 (GRCm39) L51P probably benign Het
Tppp T C 13: 74,169,352 (GRCm39) S31P probably benign Het
Upf2 A T 2: 5,993,240 (GRCm39) R599W unknown Het
Vav1 G T 17: 57,586,271 (GRCm39) W25L probably benign Het
Other mutations in Glt28d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01600:Glt28d2 APN 3 85,779,290 (GRCm39) missense probably damaging 1.00
IGL02662:Glt28d2 APN 3 85,779,423 (GRCm39) missense probably damaging 0.97
IGL03235:Glt28d2 APN 3 85,779,109 (GRCm39) missense possibly damaging 0.94
R4326:Glt28d2 UTSW 3 85,779,393 (GRCm39) nonsense probably null
R6170:Glt28d2 UTSW 3 85,779,248 (GRCm39) missense possibly damaging 0.89
R6798:Glt28d2 UTSW 3 85,779,296 (GRCm39) missense probably benign 0.00
R8853:Glt28d2 UTSW 3 85,779,087 (GRCm39) missense probably benign
R8890:Glt28d2 UTSW 3 85,779,359 (GRCm39) missense possibly damaging 0.64
R9632:Glt28d2 UTSW 3 85,779,059 (GRCm39) missense probably benign 0.13
R9710:Glt28d2 UTSW 3 85,779,059 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TCCTGCACCTGCATGGCTAATGAC -3'
(R):5'- CCAGATGGTATGGCTAACCGCTAAC -3'

Sequencing Primer
(F):5'- CTGCATGGCTAATGACAAGGTC -3'
(R):5'- GCCTAGGTTGAGACTTAGATTACCAA -3'
Posted On 2013-07-11