Incidental Mutation 'R7839:Glt8d1'
ID 628579
Institutional Source Beutler Lab
Gene Symbol Glt8d1
Ensembl Gene ENSMUSG00000021916
Gene Name glycosyltransferase 8 domain containing 1
Synonyms 5430414N14Rik, 2410004H05Rik
MMRRC Submission 045893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7839 (G1)
Quality Score 55.0072
Status Validated
Chromosome 14
Chromosomal Location 30723357-30733948 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 30723788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022476] [ENSMUST00000168584] [ENSMUST00000186131] [ENSMUST00000226374] [ENSMUST00000226378] [ENSMUST00000226782] [ENSMUST00000228736] [ENSMUST00000228767]
AlphaFold Q6NSU3
Predicted Effect probably benign
Transcript: ENSMUST00000022476
SMART Domains Protein: ENSMUSP00000022476
Gene: ENSMUSG00000021916

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Glyco_transf_8 67 340 1.7e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168584
SMART Domains Protein: ENSMUSP00000129323
Gene: ENSMUSG00000021916

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:Glyco_transf_8 67 340 8.6e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186131
SMART Domains Protein: ENSMUSP00000139654
Gene: ENSMUSG00000021917

DomainStartEndE-ValueType
Pfam:SPC12 71 149 2.1e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226374
Predicted Effect probably benign
Transcript: ENSMUST00000226378
Predicted Effect probably benign
Transcript: ENSMUST00000226782
Predicted Effect probably benign
Transcript: ENSMUST00000228736
Predicted Effect probably benign
Transcript: ENSMUST00000228767
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: This gene encodes a member of the glycosyltransferase family. The encoded protein is a type II transmembrane protein containing a glycosyltransferase 8 domain in the lumenal (C-terminal) portion. The specific function of this protein has not been determined. Two alternatively spliced variants encoding the same isoform have been described. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a disruption in this gene display exhibited impaired sensorimotor gating/attention during prepulse inhibition testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,025,085 (GRCm39) M986K probably benign Het
Adcyap1 A G 17: 93,511,413 (GRCm39) K129R probably benign Het
Anapc1 T C 2: 128,526,528 (GRCm39) D90G probably damaging Het
Ankrd17 G A 5: 90,411,213 (GRCm39) H1361Y probably damaging Het
Aqp4 T A 18: 15,532,737 (GRCm39) I119F possibly damaging Het
Bfsp1 T A 2: 143,673,770 (GRCm39) I313F possibly damaging Het
Cxcl9 A G 5: 92,475,869 (GRCm39) V5A probably benign Het
Cyfip1 G A 7: 55,536,483 (GRCm39) V304M probably damaging Het
Cyp2d22 A G 15: 82,256,772 (GRCm39) V334A probably damaging Het
Cyp2j12 A G 4: 95,987,893 (GRCm39) V499A possibly damaging Het
Cyth3 A G 5: 143,683,509 (GRCm39) E136G probably benign Het
Degs2 CTTAGTGAAT CT 12: 108,658,460 (GRCm39) probably null Het
Dnah7a A G 1: 53,606,334 (GRCm39) S1229P probably benign Het
Dop1a T A 9: 86,424,818 (GRCm39) C2087* probably null Het
Dop1b A T 16: 93,560,829 (GRCm39) H889L probably damaging Het
Elf1 A G 14: 79,773,855 (GRCm39) E22G probably benign Het
Gbgt1 T C 2: 28,393,182 (GRCm39) V90A probably damaging Het
Glis3 T C 19: 28,294,773 (GRCm39) D675G possibly damaging Het
Gzf1 T A 2: 148,525,815 (GRCm39) Y95* probably null Het
Insig2 T C 1: 121,240,049 (GRCm39) I84V probably benign Het
Mapkapk2 A G 1: 131,025,256 (GRCm39) S3P unknown Het
Nell2 T C 15: 95,196,819 (GRCm39) N499S probably benign Het
Nlrp9b G A 7: 19,758,398 (GRCm39) R545H possibly damaging Het
Obox7 T A 7: 14,399,350 (GRCm39) I192N probably benign Het
Or10ad1 T C 15: 98,106,026 (GRCm39) I80V probably damaging Het
Or6c76b A T 10: 129,692,899 (GRCm39) I171F possibly damaging Het
Plec A T 15: 76,060,583 (GRCm39) V3118E probably damaging Het
Plk3 T C 4: 116,986,527 (GRCm39) T571A probably damaging Het
Ppa2 T C 3: 133,082,351 (GRCm39) probably null Het
Rabl6 A T 2: 25,482,829 (GRCm39) H183Q probably damaging Het
Rad51ap2 T A 12: 11,507,238 (GRCm39) S387T possibly damaging Het
Rbm33 A G 5: 28,573,397 (GRCm39) probably null Het
Robo4 T C 9: 37,322,055 (GRCm39) S724P probably damaging Het
Rtf2 T C 2: 172,308,253 (GRCm39) probably null Het
Sft2d1rt T C 11: 45,942,887 (GRCm39) T79A possibly damaging Het
Slc45a2 A T 15: 11,027,835 (GRCm39) Q468L probably benign Het
Slc6a15 A G 10: 103,240,660 (GRCm39) I428V probably benign Het
Sp140l2 C T 1: 85,224,736 (GRCm39) M266I probably benign Het
Taar7f C A 10: 23,925,967 (GRCm39) A187E possibly damaging Het
Tmt1a T C 15: 100,202,957 (GRCm39) V77A possibly damaging Het
Tob1 T A 11: 94,104,598 (GRCm39) Y45N probably damaging Het
Trappc10 A G 10: 78,024,646 (GRCm39) V1161A possibly damaging Het
Trbv13-2 T C 6: 41,098,521 (GRCm39) V32A probably benign Het
Trpm8 T A 1: 88,254,176 (GRCm39) L133Q possibly damaging Het
Ttn T C 2: 76,538,512 (GRCm39) T34729A probably benign Het
Uba6 G T 5: 86,270,271 (GRCm39) probably null Het
Unc13c T C 9: 73,840,596 (GRCm39) D85G possibly damaging Het
Vmn1r176 T C 7: 23,534,394 (GRCm39) D253G possibly damaging Het
Vmn2r34 T A 7: 7,687,173 (GRCm39) I175F possibly damaging Het
Vmn2r61 T A 7: 41,916,032 (GRCm39) I215N probably damaging Het
Vwa5a C A 9: 38,634,799 (GRCm39) S202R probably damaging Het
Zfp383 G A 7: 29,614,483 (GRCm39) C246Y probably damaging Het
Zfp40 T C 17: 23,395,963 (GRCm39) D208G probably damaging Het
Zfp992 C A 4: 146,550,875 (GRCm39) L199I probably benign Het
Other mutations in Glt8d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02339:Glt8d1 APN 14 30,730,767 (GRCm39) missense probably damaging 1.00
IGL03087:Glt8d1 APN 14 30,732,053 (GRCm39) missense probably damaging 1.00
R0494:Glt8d1 UTSW 14 30,733,580 (GRCm39) missense possibly damaging 0.87
R0531:Glt8d1 UTSW 14 30,728,461 (GRCm39) missense probably benign 0.00
R0594:Glt8d1 UTSW 14 30,732,367 (GRCm39) critical splice donor site probably null
R1540:Glt8d1 UTSW 14 30,733,549 (GRCm39) missense probably benign 0.00
R1715:Glt8d1 UTSW 14 30,733,478 (GRCm39) missense possibly damaging 0.95
R2055:Glt8d1 UTSW 14 30,731,693 (GRCm39) missense probably benign 0.00
R3081:Glt8d1 UTSW 14 30,728,617 (GRCm39) missense probably benign
R4676:Glt8d1 UTSW 14 30,728,649 (GRCm39) missense probably benign
R7143:Glt8d1 UTSW 14 30,728,602 (GRCm39) missense probably damaging 0.97
R7733:Glt8d1 UTSW 14 30,723,935 (GRCm39) unclassified probably benign
R7871:Glt8d1 UTSW 14 30,732,296 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATAGCGACGGCCTTTACTCG -3'
(R):5'- GTAGCCTCCTTACGCTTAGG -3'

Sequencing Primer
(F):5'- GCCTTTACTCGGGGAGGAC -3'
(R):5'- CCTCCTTACGCTTAGGAGTGATG -3'
Posted On 2020-05-11