Incidental Mutation 'R4416:Gtdc1'
ID326822
Institutional Source Beutler Lab
Gene Symbol Gtdc1
Ensembl Gene ENSMUSG00000036890
Gene Nameglycosyltransferase-like domain containing 1
Synonyms
MMRRC Submission 041137-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #R4416 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location44564412-44927657 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 44575590 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049051] [ENSMUST00000112810] [ENSMUST00000130991]
Predicted Effect probably null
Transcript: ENSMUST00000049051
SMART Domains Protein: ENSMUSP00000038119
Gene: ENSMUSG00000036890

DomainStartEndE-ValueType
Pfam:DUF3524 1 108 1.4e-44 PFAM
Pfam:Glycos_transf_1 208 360 4.9e-13 PFAM
Pfam:Glyco_trans_1_4 210 348 2.3e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112810
SMART Domains Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890

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 null
Transcript: ENSMUST00000130991
SMART Domains Protein: ENSMUSP00000116839
Gene: ENSMUSG00000036890

DomainStartEndE-ValueType
Pfam:DUF3524 1 87 1.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143333
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T C 4: 41,505,574 T183A possibly damaging Het
4933412E24Rik T A 15: 60,016,423 E56V possibly damaging Het
Adam28 A G 14: 68,622,082 probably null Het
Bnc1 G T 7: 81,968,960 H786N probably benign Het
Cav1 T A 6: 17,339,249 M100K probably benign Het
Cdk9 A G 2: 32,708,072 L273P probably damaging Het
Celsr1 A G 15: 85,927,999 V2065A probably damaging Het
Cyp2c54 T C 19: 40,038,259 Q484R probably benign Het
Elfn1 T C 5: 139,972,194 S318P possibly damaging Het
Fam160b1 G T 19: 57,385,397 probably null Het
Fbxl6 T C 15: 76,537,724 E205G possibly damaging Het
Frmd6 T A 12: 70,877,249 Y94N probably benign Het
Gdpd1 A T 11: 87,035,288 V277D probably benign Het
Gm1141 G A X: 71,939,619 C399Y possibly damaging Het
Grik1 C A 16: 88,051,461 V140L probably benign Het
Grpel1 A G 5: 36,471,272 H175R probably damaging Het
Hivep2 A T 10: 14,129,170 Q504L probably benign Het
Icos A T 1: 60,994,690 I160L probably benign Het
Igsf9b G T 9: 27,322,917 C442F probably damaging Het
Itga10 T C 3: 96,658,246 V1062A possibly damaging Het
Lrp1b C T 2: 40,663,667 V386I unknown Het
Lrp2 G T 2: 69,527,231 F409L probably benign Het
Nadk T G 4: 155,587,726 Y291* probably null Het
Nudt6 A T 3: 37,405,229 probably null Het
Oit3 T C 10: 59,428,103 Y403C probably damaging Het
Olfr694 G A 7: 106,689,011 T240I probably benign Het
Olfr814 T C 10: 129,873,957 T267A probably benign Het
Olfr974 A G 9: 39,942,428 H56R probably damaging Het
Pds5b C T 5: 150,736,396 P275S probably damaging Het
Pdzd7 T A 19: 45,040,580 E117V probably damaging Het
Pik3ca T C 3: 32,461,530 V784A probably damaging Het
Polr3e T C 7: 120,939,057 probably null Het
Rab3gap2 A T 1: 185,282,347 D1231V probably benign Het
Rapgef2 C A 3: 79,069,057 G1481* probably null Het
Rho G A 6: 115,935,230 V76I probably benign Het
Rrm1 A G 7: 102,447,801 D96G probably benign Het
Slc35b2 G A 17: 45,566,429 V161M probably benign Het
Srp9 A T 1: 182,131,411 M50L probably benign Het
Stox1 T C 10: 62,659,569 N975S probably benign Het
Sult1d1 A G 5: 87,558,576 F169S probably damaging Het
Tmem63c C G 12: 87,081,902 T567R probably benign Het
Tmf1 G T 6: 97,178,988 F12L probably damaging Het
Ush2a T C 1: 188,356,874 I342T probably damaging Het
Veph1 A T 3: 66,061,185 N712K probably damaging Het
Vti1a T G 19: 55,380,948 S91A probably benign Het
Other mutations in Gtdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Gtdc1 APN 2 44591879 critical splice donor site probably null
IGL02133:Gtdc1 APN 2 44575443 missense probably damaging 1.00
IGL02465:Gtdc1 APN 2 44570423 missense probably damaging 1.00
IGL02488:Gtdc1 APN 2 44825439 missense probably benign 0.38
IGL02835:Gtdc1 UTSW 2 44756312 nonsense probably null
K3955:Gtdc1 UTSW 2 44752221 critical splice acceptor site probably null
R0121:Gtdc1 UTSW 2 44565538 splice site probably benign
R0270:Gtdc1 UTSW 2 44752174 missense possibly damaging 0.94
R0490:Gtdc1 UTSW 2 44635040 missense probably benign 0.03
R1506:Gtdc1 UTSW 2 44575494 missense possibly damaging 0.65
R1889:Gtdc1 UTSW 2 44591914 missense probably damaging 1.00
R1944:Gtdc1 UTSW 2 44752186 missense possibly damaging 0.95
R3724:Gtdc1 UTSW 2 44756307 missense probably damaging 0.96
R4134:Gtdc1 UTSW 2 44825418 missense probably damaging 1.00
R4666:Gtdc1 UTSW 2 44591925 missense probably benign 0.05
R4732:Gtdc1 UTSW 2 44789055 intron probably benign
R4947:Gtdc1 UTSW 2 44591956 missense probably null 0.01
R5474:Gtdc1 UTSW 2 44756367 missense probably damaging 1.00
R5911:Gtdc1 UTSW 2 44752064 missense probably benign 0.41
R6370:Gtdc1 UTSW 2 44756322 missense probably damaging 0.99
R6809:Gtdc1 UTSW 2 44575551 nonsense probably null
R6809:Gtdc1 UTSW 2 44825384 missense probably damaging 1.00
R7270:Gtdc1 UTSW 2 44635310 missense probably benign 0.01
R7581:Gtdc1 UTSW 2 44790005 splice site probably null
X0063:Gtdc1 UTSW 2 44570447 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCTGCATTCTGGAAGTTCAC -3'
(R):5'- GCACCTTAACATTTGGTTCTGC -3'

Sequencing Primer
(F):5'- AGTAAAGCTGCTTCCAGACTG -3'
(R):5'- GCTTCTGTGCCTTGATTATAAAAGC -3'
Posted On2015-07-07