Incidental Mutation 'R0464:Glt8d2'
ID 71438
Institutional Source Beutler Lab
Gene Symbol Glt8d2
Ensembl Gene ENSMUSG00000020251
Gene Name glycosyltransferase 8 domain containing 2
Synonyms 1110021D20Rik
MMRRC Submission 038664-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R0464 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 82486267-82526484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 82490564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 242 (H242P)
Ref Sequence ENSEMBL: ENSMUSP00000069188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020485] [ENSMUST00000065815] [ENSMUST00000092266] [ENSMUST00000125505] [ENSMUST00000151390]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020485
AA Change: H242P

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020485
Gene: ENSMUSG00000020251
AA Change: H242P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Glyco_transf_8 54 326 3e-47 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000065815
AA Change: H242P

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251
AA Change: H242P

DomainStartEndE-ValueType
low complexity region 6 25 N/A INTRINSIC
Pfam:Glyco_transf_8 54 312 2.8e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092266
SMART Domains Protein: ENSMUSP00000089917
Gene: ENSMUSG00000034674

DomainStartEndE-ValueType
internal_repeat_1 3 21 1.82e-5 PROSPERO
internal_repeat_1 18 36 1.82e-5 PROSPERO
low complexity region 39 57 N/A INTRINSIC
low complexity region 63 84 N/A INTRINSIC
UDG 112 278 2.03e0 SMART
UreE_C 112 278 2.03e0 SMART
low complexity region 324 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128142
Predicted Effect probably benign
Transcript: ENSMUST00000150269
Predicted Effect probably benign
Transcript: ENSMUST00000151390
SMART Domains Protein: ENSMUSP00000121000
Gene: ENSMUSG00000034674

DomainStartEndE-ValueType
internal_repeat_1 23 45 8.83e-7 PROSPERO
internal_repeat_1 38 60 8.83e-7 PROSPERO
low complexity region 63 81 N/A INTRINSIC
low complexity region 87 108 N/A INTRINSIC
UDG 136 302 1.6e-4 SMART
UreE_C 136 302 1.6e-4 SMART
low complexity region 348 359 N/A INTRINSIC
Meta Mutation Damage Score 0.0644 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (80/80)
MGI Phenotype PHENOTYPE: Homozygous mutant mice show reduced viability and a decreased serum immunoglobulin response to antigen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,574,884 (GRCm39) Y84* probably null Het
Adar T A 3: 89,642,889 (GRCm39) C257S possibly damaging Het
Adgrd1 G T 5: 129,239,714 (GRCm39) C507F probably damaging Het
Atp5f1a T C 18: 77,867,622 (GRCm39) Y299H probably benign Het
Bok G T 1: 93,621,935 (GRCm39) R77L probably damaging Het
Cdx2 C A 5: 147,243,283 (GRCm39) K170N possibly damaging Het
Ceacam1 A G 7: 25,171,442 (GRCm39) S341P possibly damaging Het
Cfhr3 A T 1: 139,521,683 (GRCm39) noncoding transcript Het
Ckap5 A G 2: 91,409,858 (GRCm39) I947V probably benign Het
Clec2i T C 6: 128,872,386 (GRCm39) Y173H probably damaging Het
Cttnbp2 T C 6: 18,408,690 (GRCm39) D977G possibly damaging Het
Cyp2f2 C A 7: 26,831,962 (GRCm39) Q406K probably benign Het
Ddx28 A G 8: 106,736,685 (GRCm39) S458P probably damaging Het
Dppa3 T A 6: 122,605,492 (GRCm39) probably null Het
Dusp10 C A 1: 183,801,273 (GRCm39) L347I probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fbxl15 A T 19: 46,316,951 (GRCm39) E13D probably benign Het
Fhit T A 14: 10,991,567 (GRCm38) probably benign Het
Fras1 G T 5: 96,784,662 (GRCm39) V882F probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gabbr1 C T 17: 37,361,726 (GRCm39) probably benign Het
Ganc T A 2: 120,267,175 (GRCm39) V497D probably benign Het
Gna15 T C 10: 81,348,338 (GRCm39) Y131C probably benign Het
Gpatch8 T C 11: 102,371,712 (GRCm39) K609E unknown Het
Gprc5a A T 6: 135,056,413 (GRCm39) K287* probably null Het
Iqub T A 6: 24,479,262 (GRCm39) K427* probably null Het
Itpr2 C G 6: 146,277,387 (GRCm39) D666H probably damaging Het
Kcnj5 T C 9: 32,234,269 (GRCm39) I15M possibly damaging Het
Kcnn2 A G 18: 45,693,426 (GRCm39) E334G probably damaging Het
Lypd6 T A 2: 50,080,690 (GRCm39) I126N probably damaging Het
Ms4a20 A G 19: 11,089,801 (GRCm39) L28P probably damaging Het
Mtus1 T C 8: 41,455,511 (GRCm39) D56G probably damaging Het
Myo1h A G 5: 114,498,571 (GRCm39) D889G probably damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Nab1 T C 1: 52,529,174 (GRCm39) D241G possibly damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ncbp3 C T 11: 72,960,647 (GRCm39) probably benign Het
Nek1 T A 8: 61,525,307 (GRCm39) probably benign Het
Nf1 T C 11: 79,447,615 (GRCm39) V2452A probably benign Het
Nlrp1b A C 11: 71,109,070 (GRCm39) S144A probably damaging Het
Npr2 A T 4: 43,640,597 (GRCm39) probably null Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC "TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC" X: 142,526,889 (GRCm39) probably benign Het
Paox T A 7: 139,709,195 (GRCm39) probably benign Het
Pcdh15 T A 10: 74,462,676 (GRCm39) probably null Het
Pde8b G A 13: 95,241,206 (GRCm39) T202M probably damaging Het
Pigo A T 4: 43,019,814 (GRCm39) V905D probably benign Het
Pik3cb A G 9: 98,926,796 (GRCm39) probably null Het
Rassf5 T C 1: 131,139,998 (GRCm39) N87S probably benign Het
Rbl1 C A 2: 156,989,465 (GRCm39) K1051N probably damaging Het
Rfx7 T C 9: 72,525,486 (GRCm39) V892A probably damaging Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 138,680,599 (GRCm39) probably benign Het
Rnf144b T A 13: 47,396,363 (GRCm39) Y233* probably null Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sbf2 T C 7: 110,063,783 (GRCm39) probably benign Het
Sgo2a A T 1: 58,039,253 (GRCm39) K85N probably damaging Het
Siglec1 A T 2: 130,921,279 (GRCm39) C631S probably damaging Het
Simc1 C T 13: 54,684,913 (GRCm39) R50* probably null Het
Skint5 T A 4: 113,392,928 (GRCm39) M1235L unknown Het
Slc22a19 A T 19: 7,660,278 (GRCm39) N377K probably benign Het
Spata31d1a A G 13: 59,849,573 (GRCm39) F852L possibly damaging Het
Spata31e3 A G 13: 50,402,311 (GRCm39) probably benign Het
Srbd1 G A 17: 86,427,430 (GRCm39) S401F probably damaging Het
Stk36 C A 1: 74,650,331 (GRCm39) Q288K probably damaging Het
Styx T C 14: 45,609,908 (GRCm39) S191P probably benign Het
Supt6 T A 11: 78,107,164 (GRCm39) N1214I probably benign Het
Tcim T A 8: 24,928,644 (GRCm39) D90V probably damaging Het
Tdpoz1 T A 3: 93,578,782 (GRCm39) M1L probably damaging Het
Tep1 T A 14: 51,085,141 (GRCm39) T881S probably benign Het
Tlr5 C T 1: 182,801,275 (GRCm39) A193V probably benign Het
Tmem117 T A 15: 94,612,800 (GRCm39) F112Y probably damaging Het
Tnrc6c C T 11: 117,651,375 (GRCm39) R1633W probably damaging Het
Trh T C 6: 92,220,649 (GRCm39) probably null Het
Triobp A G 15: 78,851,186 (GRCm39) R447G possibly damaging Het
Trip6 A G 5: 137,311,943 (GRCm39) F46S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Usp33 T C 3: 152,081,872 (GRCm39) probably benign Het
Vmn2r60 A T 7: 41,785,255 (GRCm39) I156F probably damaging Het
Wdr17 T C 8: 55,123,427 (GRCm39) probably benign Het
Wdr35 G T 12: 9,077,472 (GRCm39) probably benign Het
Wwp1 C T 4: 19,638,763 (GRCm39) probably benign Het
Zfp652 T C 11: 95,654,475 (GRCm39) C293R probably damaging Het
Other mutations in Glt8d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00686:Glt8d2 APN 10 82,487,347 (GRCm39) missense possibly damaging 0.83
IGL00848:Glt8d2 APN 10 82,497,999 (GRCm39) critical splice donor site probably null
IGL01479:Glt8d2 APN 10 82,496,570 (GRCm39) missense probably damaging 1.00
IGL03185:Glt8d2 APN 10 82,498,110 (GRCm39) missense probably damaging 1.00
vitus UTSW 10 82,500,547 (GRCm39) missense possibly damaging 0.54
R0139:Glt8d2 UTSW 10 82,496,644 (GRCm39) missense probably damaging 1.00
R0255:Glt8d2 UTSW 10 82,487,361 (GRCm39) splice site probably null
R0483:Glt8d2 UTSW 10 82,497,987 (GRCm39) unclassified probably benign
R0789:Glt8d2 UTSW 10 82,500,519 (GRCm39) missense probably damaging 1.00
R1496:Glt8d2 UTSW 10 82,495,372 (GRCm39) missense probably damaging 0.98
R1930:Glt8d2 UTSW 10 82,500,476 (GRCm39) missense probably benign 0.00
R3715:Glt8d2 UTSW 10 82,488,571 (GRCm39) missense probably benign 0.00
R4493:Glt8d2 UTSW 10 82,500,547 (GRCm39) missense possibly damaging 0.54
R4707:Glt8d2 UTSW 10 82,496,583 (GRCm39) missense probably damaging 1.00
R4785:Glt8d2 UTSW 10 82,496,583 (GRCm39) missense probably damaging 1.00
R4886:Glt8d2 UTSW 10 82,487,874 (GRCm39) unclassified probably benign
R5420:Glt8d2 UTSW 10 82,488,516 (GRCm39) missense probably benign 0.02
R5485:Glt8d2 UTSW 10 82,487,282 (GRCm39) missense possibly damaging 0.79
R5859:Glt8d2 UTSW 10 82,507,915 (GRCm39) start codon destroyed probably null
R6416:Glt8d2 UTSW 10 82,488,740 (GRCm39) missense probably damaging 1.00
R7527:Glt8d2 UTSW 10 82,488,403 (GRCm39) missense unknown
R7563:Glt8d2 UTSW 10 82,496,659 (GRCm39) splice site probably null
R7699:Glt8d2 UTSW 10 82,498,122 (GRCm39) splice site probably null
R8322:Glt8d2 UTSW 10 82,498,037 (GRCm39) missense probably damaging 1.00
R8896:Glt8d2 UTSW 10 82,490,616 (GRCm39) missense probably damaging 0.98
R9716:Glt8d2 UTSW 10 82,496,644 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCATGCTCCTTGGTTGACAGATTC -3'
(R):5'- GCACTTGTCCTGGAAGTCTGACTTG -3'

Sequencing Primer
(F):5'- CTGTGAGAATCTGACCTCAGGTG -3'
(R):5'- tggaaatgcagcggcag -3'
Posted On 2013-09-30