Incidental Mutation 'R6809:Gtdc1'
ID 533687
Institutional Source Beutler Lab
Gene Symbol Gtdc1
Ensembl Gene ENSMUSG00000036890
Gene Name glycosyltransferase-like domain containing 1
Synonyms E330008O22Rik
MMRRC Submission 044922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6809 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 44454424-44817669 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44715396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 49 (F49S)
Ref Sequence ENSEMBL: ENSMUSP00000116839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100127] [ENSMUST00000112810] [ENSMUST00000130991] [ENSMUST00000146694] [ENSMUST00000148279] [ENSMUST00000154744]
AlphaFold Q8BW56
Predicted Effect probably damaging
Transcript: ENSMUST00000100127
AA Change: F49S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097703
Gene: ENSMUSG00000036890
AA Change: F49S

DomainStartEndE-ValueType
Pfam:DUF3524 1 64 1.1e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112810
AA Change: F49S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890
AA Change: F49S

DomainStartEndE-ValueType
Pfam:DUF3524 2 167 1.3e-74 PFAM
Pfam:Glycos_transf_1 266 444 1.3e-10 PFAM
Pfam:Glyco_trans_1_4 269 407 1.4e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130991
AA Change: F49S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116839
Gene: ENSMUSG00000036890
AA Change: F49S

DomainStartEndE-ValueType
Pfam:DUF3524 1 87 1.7e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146694
AA Change: F49S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119639
Gene: ENSMUSG00000036890
AA Change: F49S

DomainStartEndE-ValueType
Pfam:DUF3524 1 116 1e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148279
AA Change: F49S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120593
Gene: ENSMUSG00000036890
AA Change: F49S

DomainStartEndE-ValueType
Pfam:DUF3524 1 167 8.7e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154744
AA Change: F49S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119239
Gene: ENSMUSG00000036890
AA Change: F49S

DomainStartEndE-ValueType
Pfam:DUF3524 1 115 2.3e-44 PFAM
Meta Mutation Damage Score 0.8986 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 96% (51/53)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik T A 1: 192,857,089 (GRCm39) V147E possibly damaging Het
Abtb3 A G 10: 85,467,240 (GRCm39) T732A probably benign Het
Adgrv1 A T 13: 81,621,072 (GRCm39) M3893K probably benign Het
Aox3 T C 1: 58,157,840 (GRCm39) S66P probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Bloc1s5 A G 13: 38,787,961 (GRCm39) V141A probably benign Het
Bltp1 A G 3: 36,928,431 (GRCm39) N61S probably damaging Het
Col28a1 T C 6: 7,999,468 (GRCm39) Y1083C probably damaging Het
Crb1 A G 1: 139,170,864 (GRCm39) V842A probably benign Het
Dapk1 A G 13: 60,899,103 (GRCm39) S858G probably benign Het
Dlgap2 G T 8: 14,229,619 (GRCm39) probably benign Het
Dpysl4 A G 7: 138,673,576 (GRCm39) D199G probably benign Het
Eml6 C T 11: 29,753,161 (GRCm39) V917I probably benign Het
Fut9 T A 4: 25,620,647 (GRCm39) T56S probably benign Het
Hoxd9 A G 2: 74,529,590 (GRCm39) Y282C probably damaging Het
Hrc A G 7: 44,985,803 (GRCm39) E318G probably benign Het
Ikzf2 T C 1: 69,609,661 (GRCm39) T195A probably damaging Het
Krt36 A T 11: 99,996,335 (GRCm39) S30T probably benign Het
Lrp1 A G 10: 127,390,925 (GRCm39) F2991L probably benign Het
Lrrc34 T A 3: 30,688,749 (GRCm39) Q184L possibly damaging Het
Mapk1 A T 16: 16,853,326 (GRCm39) M49L probably benign Het
Mroh2a G T 1: 88,162,938 (GRCm39) Q360H probably benign Het
Mrpl48 A G 7: 100,195,574 (GRCm39) probably benign Het
Ncln A G 10: 81,323,512 (GRCm39) probably null Het
Nol4 T A 18: 23,053,882 (GRCm39) Q96L probably damaging Het
Or2y1e G T 11: 49,218,687 (GRCm39) V150L probably benign Het
Or5g25 G A 2: 85,478,317 (GRCm39) A116V probably damaging Het
Padi2 A G 4: 140,674,077 (GRCm39) probably null Het
Pak5 T G 2: 135,939,501 (GRCm39) I545L possibly damaging Het
Paqr5 T A 9: 61,876,064 (GRCm39) R157W probably null Het
Pard3b G A 1: 62,200,340 (GRCm39) R293H probably damaging Het
Phf11d C A 14: 59,593,844 (GRCm39) C110F probably damaging Het
Pkn2 G A 3: 142,504,765 (GRCm39) P804S probably damaging Het
Pnpla6 G A 8: 3,584,611 (GRCm39) C743Y possibly damaging Het
Pramel14 A G 4: 143,719,651 (GRCm39) V238A probably benign Het
Pramel58 C A 5: 94,831,277 (GRCm39) Q95K probably benign Het
Psip1 A G 4: 83,386,879 (GRCm39) M164T probably benign Het
Rgs22 C G 15: 36,048,910 (GRCm39) S914T probably damaging Het
Rufy4 G A 1: 74,172,206 (GRCm39) V310I probably benign Het
Ryr2 G A 13: 11,741,816 (GRCm39) L2122F probably damaging Het
Sgcb T G 5: 73,798,036 (GRCm39) N142T probably benign Het
Slc27a6 A G 18: 58,738,126 (GRCm39) E394G probably benign Het
Slc29a2 T C 19: 5,079,271 (GRCm39) V298A probably damaging Het
Slf2 C A 19: 44,931,907 (GRCm39) T654N probably damaging Het
Spata4 A C 8: 55,055,368 (GRCm39) K123Q possibly damaging Het
Taar7b T C 10: 23,876,756 (GRCm39) V307A probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Ttn T C 2: 76,693,983 (GRCm39) E295G possibly damaging Het
Ubqln4 A T 3: 88,462,679 (GRCm39) Q48L possibly damaging Het
Ugt1a10 T A 1: 87,983,647 (GRCm39) D148E probably damaging Het
Vmn2r85 T A 10: 130,261,795 (GRCm39) N181Y probably benign Het
Wdfy3 C T 5: 102,071,813 (GRCm39) V1026I possibly damaging Het
Other mutations in Gtdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Gtdc1 APN 2 44,481,891 (GRCm39) critical splice donor site probably null
IGL02133:Gtdc1 APN 2 44,465,455 (GRCm39) missense probably damaging 1.00
IGL02465:Gtdc1 APN 2 44,460,435 (GRCm39) missense probably damaging 1.00
IGL02488:Gtdc1 APN 2 44,715,451 (GRCm39) missense probably benign 0.38
IGL02835:Gtdc1 UTSW 2 44,646,324 (GRCm39) nonsense probably null
K3955:Gtdc1 UTSW 2 44,642,233 (GRCm39) critical splice acceptor site probably null
R0121:Gtdc1 UTSW 2 44,455,550 (GRCm39) splice site probably benign
R0270:Gtdc1 UTSW 2 44,642,186 (GRCm39) missense possibly damaging 0.94
R0490:Gtdc1 UTSW 2 44,525,052 (GRCm39) missense probably benign 0.03
R1506:Gtdc1 UTSW 2 44,465,506 (GRCm39) missense possibly damaging 0.65
R1889:Gtdc1 UTSW 2 44,481,926 (GRCm39) missense probably damaging 1.00
R1944:Gtdc1 UTSW 2 44,642,198 (GRCm39) missense possibly damaging 0.95
R3724:Gtdc1 UTSW 2 44,646,319 (GRCm39) missense probably damaging 0.96
R4134:Gtdc1 UTSW 2 44,715,430 (GRCm39) missense probably damaging 1.00
R4416:Gtdc1 UTSW 2 44,465,602 (GRCm39) splice site probably null
R4666:Gtdc1 UTSW 2 44,481,937 (GRCm39) missense probably benign 0.05
R4732:Gtdc1 UTSW 2 44,679,067 (GRCm39) intron probably benign
R4947:Gtdc1 UTSW 2 44,481,968 (GRCm39) missense probably null 0.01
R5474:Gtdc1 UTSW 2 44,646,379 (GRCm39) missense probably damaging 1.00
R5911:Gtdc1 UTSW 2 44,642,076 (GRCm39) missense probably benign 0.41
R6370:Gtdc1 UTSW 2 44,646,334 (GRCm39) missense probably damaging 0.99
R6809:Gtdc1 UTSW 2 44,465,563 (GRCm39) nonsense probably null
R7270:Gtdc1 UTSW 2 44,525,322 (GRCm39) missense probably benign 0.01
R7581:Gtdc1 UTSW 2 44,680,017 (GRCm39) splice site probably null
R8547:Gtdc1 UTSW 2 44,678,993 (GRCm39) intron probably benign
R8951:Gtdc1 UTSW 2 44,679,030 (GRCm39) intron probably benign
R8997:Gtdc1 UTSW 2 44,715,386 (GRCm39) missense probably benign 0.02
R9796:Gtdc1 UTSW 2 44,715,386 (GRCm39) missense probably benign 0.02
X0063:Gtdc1 UTSW 2 44,460,459 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGAGCCACTATCAGACAG -3'
(R):5'- ATCTGAAGGTTTGAACAGGCC -3'

Sequencing Primer
(F):5'- GGGAGCCACTATCAGACAGTTTTTC -3'
(R):5'- GGCCAATGAGTATTGTCATCATCGAG -3'
Posted On 2018-09-12