Incidental Mutation 'R6809:Gtdc1'
ID533687
Institutional Source Beutler Lab
Gene Symbol Gtdc1
Ensembl Gene ENSMUSG00000036890
Gene Nameglycosyltransferase-like domain containing 1
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #R6809 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location44564412-44927657 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44825384 bp
ZygosityHeterozygous
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]
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 0.452 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
4932438A13Rik A G 3: 36,874,282 N61S probably damaging Het
A130010J15Rik T A 1: 193,174,781 V147E possibly damaging Het
Adgrv1 A T 13: 81,472,953 M3893K probably benign Het
Aox3 T C 1: 58,118,681 S66P probably damaging Het
Apeh G A 9: 108,092,679 H186Y probably damaging Het
Bloc1s5 A G 13: 38,603,985 V141A probably benign Het
Btbd11 A G 10: 85,631,376 T732A probably benign Het
Col28a1 T C 6: 7,999,468 Y1083C probably damaging Het
Crb1 A G 1: 139,243,126 V842A probably benign Het
Dapk1 A G 13: 60,751,289 S858G probably benign Het
Dlgap2 G T 8: 14,179,619 probably benign Het
Dpysl4 A G 7: 139,093,660 D199G probably benign Het
Eml6 C T 11: 29,803,161 V917I probably benign Het
Fut9 T A 4: 25,620,647 T56S probably benign Het
Gm6205 C A 5: 94,683,418 Q95K probably benign Het
Hoxd9 A G 2: 74,699,246 Y282C probably damaging Het
Hrc A G 7: 45,336,379 E318G probably benign Het
Ikzf2 T C 1: 69,570,502 T195A probably damaging Het
Krt36 A T 11: 100,105,509 S30T probably benign Het
Lrp1 A G 10: 127,555,056 F2991L probably benign Het
Lrrc34 T A 3: 30,634,600 Q184L possibly damaging Het
Mapk1 A T 16: 17,035,462 M49L probably benign Het
Mroh2a G T 1: 88,235,216 Q360H probably benign Het
Mrpl48 A G 7: 100,546,367 probably benign Het
Ncln A G 10: 81,487,678 probably null Het
Nol4 T A 18: 22,920,825 Q96L probably damaging Het
Olfr1002 G A 2: 85,647,973 A116V probably damaging Het
Olfr1391 G T 11: 49,327,860 V150L probably benign Het
Padi2 A G 4: 140,946,766 probably null Het
Pak7 T G 2: 136,097,581 I545L possibly damaging Het
Paqr5 T A 9: 61,968,782 R157W probably null Het
Pard3b G A 1: 62,161,181 R293H probably damaging Het
Phf11d C A 14: 59,356,395 C110F probably damaging Het
Pkn2 G A 3: 142,799,004 P804S probably damaging Het
Pnpla6 G A 8: 3,534,611 C743Y possibly damaging Het
Pramef17 A G 4: 143,993,081 V238A probably benign Het
Psip1 A G 4: 83,468,642 M164T probably benign Het
Rgs22 C G 15: 36,048,764 S914T probably damaging Het
Rufy4 G A 1: 74,133,047 V310I probably benign Het
Ryr2 G A 13: 11,726,930 L2122F probably damaging Het
Sgcb T G 5: 73,640,693 N142T probably benign Het
Slc27a6 A G 18: 58,605,054 E394G probably benign Het
Slc29a2 T C 19: 5,029,243 V298A probably damaging Het
Slf2 C A 19: 44,943,468 T654N probably damaging Het
Spata4 A C 8: 54,602,333 K123Q possibly damaging Het
Taar7b T C 10: 24,000,858 V307A probably benign Het
Tenm4 G A 7: 96,553,496 R106H probably benign Het
Ttn T C 2: 76,863,639 E295G possibly damaging Het
Ubqln4 A T 3: 88,555,372 Q48L possibly damaging Het
Ugt1a10 T A 1: 88,055,925 D148E probably damaging Het
Vmn2r85 T A 10: 130,425,926 N181Y probably benign Het
Wdfy3 C T 5: 101,923,947 V1026I possibly damaging 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
R4416:Gtdc1 UTSW 2 44575590 splice site probably null
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
R7270:Gtdc1 UTSW 2 44635310 missense probably benign 0.01
X0063:Gtdc1 UTSW 2 44570447 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 On2018-09-12