Incidental Mutation 'R2213:Galntl5'
ID 239513
Institutional Source Beutler Lab
Gene Symbol Galntl5
Ensembl Gene ENSMUSG00000028938
Gene Name UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5
Synonyms 1700021B12Rik
MMRRC Submission 040215-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2213 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 25386458-25425295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25422527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 333 (I333V)
Ref Sequence ENSEMBL: ENSMUSP00000030778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030778] [ENSMUST00000114965]
AlphaFold Q9D4M9
Predicted Effect probably benign
Transcript: ENSMUST00000030778
AA Change: I333V

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030778
Gene: ENSMUSG00000028938
AA Change: I333V

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 29 50 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 115 365 4.1e-10 PFAM
Pfam:Glycos_transf_2 118 304 4.2e-30 PFAM
Pfam:Glyco_tranf_2_2 118 383 1.7e-7 PFAM
Pfam:Glyco_transf_7C 277 349 2.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114965
AA Change: I300V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110616
Gene: ENSMUSG00000028938
AA Change: I300V

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 82 332 1.8e-10 PFAM
Pfam:Glycos_transf_2 85 271 3.3e-28 PFAM
Pfam:Glyco_tranf_2_2 85 350 8.1e-8 PFAM
Pfam:Glyco_transf_7C 244 316 2.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196213
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Male heterozygous mice for this allele were infertile due to decreased sperm motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,326,247 (GRCm39) D78G probably damaging Het
Anxa1 C T 19: 20,360,239 (GRCm39) R124H probably damaging Het
Arhgef4 G A 1: 34,846,230 (GRCm39) probably null Het
C87436 G A 6: 86,422,455 (GRCm39) V10I probably benign Het
Ces1a G T 8: 93,751,853 (GRCm39) P427Q probably damaging Het
Cpm T C 10: 117,495,744 (GRCm39) Y78H probably damaging Het
Csmd3 G A 15: 47,683,843 (GRCm39) T1663I possibly damaging Het
Cul7 T C 17: 46,962,398 (GRCm39) F10L probably damaging Het
Cyp2j5 T C 4: 96,547,852 (GRCm39) N130S probably benign Het
Dclk1 G A 3: 55,387,854 (GRCm39) C100Y probably damaging Het
Ddb1 T C 19: 10,585,691 (GRCm39) L135P probably damaging Het
Dixdc1 A G 9: 50,613,245 (GRCm39) S211P probably benign Het
Dnah12 G T 14: 26,460,485 (GRCm39) K970N probably benign Het
Eps15 A G 4: 109,218,417 (GRCm39) K391E probably damaging Het
Fabp9 A G 3: 10,259,860 (GRCm39) V51A probably damaging Het
Flg T C 3: 93,200,335 (GRCm39) probably benign Het
Flnb AAGGAG AAG 14: 7,881,652 (GRCm38) probably benign Het
Fscb A T 12: 64,520,890 (GRCm39) I192N possibly damaging Het
Gcnt3 A T 9: 69,941,989 (GRCm39) V193E probably benign Het
Gle1 T C 2: 29,839,313 (GRCm39) F535S probably damaging Het
Gpr87 A T 3: 59,086,465 (GRCm39) S347T probably damaging Het
Gstm2 C T 3: 107,893,409 (GRCm39) R18H probably damaging Het
H1f7 T A 15: 98,154,219 (GRCm39) Q310L unknown Het
Haus6 C T 4: 86,500,229 (GRCm39) E927K possibly damaging Het
Hunk A G 16: 90,229,505 (GRCm39) N122S probably damaging Het
Itih4 T A 14: 30,612,670 (GRCm39) V232E probably damaging Het
Jag1 G T 2: 136,931,812 (GRCm39) D586E probably benign Het
Klk1b1 T C 7: 43,619,905 (GRCm39) S155P probably damaging Het
Lama1 G T 17: 68,084,029 (GRCm39) G1424* probably null Het
Lrp1 T A 10: 127,376,571 (GRCm39) N4279I probably damaging Het
Lrrc43 G A 5: 123,641,640 (GRCm39) V525I possibly damaging Het
Lrrc4c G A 2: 97,460,816 (GRCm39) V481M probably benign Het
Mecr T A 4: 131,581,126 (GRCm39) probably null Het
Megf10 T A 18: 57,421,081 (GRCm39) Y906* probably null Het
Mpdz A G 4: 81,228,409 (GRCm39) F1319L probably damaging Het
Mtf2 A G 5: 108,248,780 (GRCm39) E364G possibly damaging Het
Nelfe T A 17: 35,072,859 (GRCm39) D160E probably benign Het
Nin A G 12: 70,092,128 (GRCm39) L727P probably damaging Het
Npat A G 9: 53,463,681 (GRCm39) T155A probably benign Het
Nup58 T C 14: 60,476,945 (GRCm39) D242G probably benign Het
Or4a78 A T 2: 89,497,891 (GRCm39) L113Q probably damaging Het
Pnlip T C 19: 58,662,202 (GRCm39) V116A probably benign Het
Prl7a2 T A 13: 27,849,051 (GRCm39) L79F probably benign Het
Rbm25 A T 12: 83,722,856 (GRCm39) I760L probably benign Het
Rbms3 A T 9: 116,788,534 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rps10 C A 17: 27,849,473 (GRCm39) probably benign Het
Slc35e4 T C 11: 3,863,159 (GRCm39) E10G possibly damaging Het
Smad2 A T 18: 76,437,697 (GRCm39) T434S probably damaging Het
Sox30 C T 11: 45,875,679 (GRCm39) S477F probably damaging Het
Speer4a3 G T 5: 26,158,175 (GRCm39) T59K probably benign Het
Stat4 A T 1: 52,053,014 (GRCm39) D65V probably damaging Het
Strip2 A G 6: 29,931,147 (GRCm39) D366G probably damaging Het
Syngap1 C A 17: 27,172,043 (GRCm39) R84S probably damaging Het
Synpo2l A G 14: 20,710,734 (GRCm39) Y629H probably damaging Het
Taf4 A T 2: 179,577,683 (GRCm39) probably null Het
Ttc21a A G 9: 119,769,527 (GRCm39) H68R probably benign Het
Txndc8 T A 4: 57,984,199 (GRCm39) Q144L probably benign Het
Tyr T G 7: 87,142,086 (GRCm39) Q158P probably damaging Het
Uchl3 T A 14: 101,904,106 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,332,123 (GRCm39) K298R probably benign Het
Wrn T C 8: 33,747,043 (GRCm39) N891S probably benign Het
Ylpm1 A G 12: 85,116,492 (GRCm39) S2125G probably benign Het
Other mutations in Galntl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Galntl5 APN 5 25,400,349 (GRCm39) missense probably damaging 1.00
IGL01637:Galntl5 APN 5 25,394,823 (GRCm39) splice site probably benign
IGL02126:Galntl5 APN 5 25,394,839 (GRCm39) missense possibly damaging 0.75
IGL02136:Galntl5 APN 5 25,425,060 (GRCm39) missense probably benign 0.16
IGL02836:Galntl5 APN 5 25,391,237 (GRCm39) missense probably benign
R0076:Galntl5 UTSW 5 25,391,070 (GRCm39) critical splice acceptor site probably null
R0411:Galntl5 UTSW 5 25,425,172 (GRCm39) missense probably benign 0.20
R1376:Galntl5 UTSW 5 25,391,286 (GRCm39) missense probably benign 0.16
R1376:Galntl5 UTSW 5 25,391,286 (GRCm39) missense probably benign 0.16
R1686:Galntl5 UTSW 5 25,415,432 (GRCm39) missense probably benign 0.16
R1724:Galntl5 UTSW 5 25,425,120 (GRCm39) missense possibly damaging 0.94
R1899:Galntl5 UTSW 5 25,403,530 (GRCm39) nonsense probably null
R2215:Galntl5 UTSW 5 25,403,476 (GRCm39) missense probably damaging 1.00
R2425:Galntl5 UTSW 5 25,425,079 (GRCm39) missense probably damaging 0.99
R3811:Galntl5 UTSW 5 25,391,178 (GRCm39) missense probably benign 0.19
R3812:Galntl5 UTSW 5 25,391,178 (GRCm39) missense probably benign 0.19
R4072:Galntl5 UTSW 5 25,403,478 (GRCm39) nonsense probably null
R4660:Galntl5 UTSW 5 25,408,377 (GRCm39) missense probably damaging 1.00
R5792:Galntl5 UTSW 5 25,403,461 (GRCm39) missense possibly damaging 0.59
R5844:Galntl5 UTSW 5 25,391,091 (GRCm39) intron probably benign
R6267:Galntl5 UTSW 5 25,391,163 (GRCm39) missense probably benign
R6296:Galntl5 UTSW 5 25,391,163 (GRCm39) missense probably benign
R6896:Galntl5 UTSW 5 25,394,947 (GRCm39) critical splice donor site probably null
R7138:Galntl5 UTSW 5 25,394,842 (GRCm39) missense probably benign 0.13
R7256:Galntl5 UTSW 5 25,400,298 (GRCm39) missense probably benign 0.00
R9044:Galntl5 UTSW 5 25,415,326 (GRCm39) missense possibly damaging 0.94
R9147:Galntl5 UTSW 5 25,415,353 (GRCm39) missense possibly damaging 0.84
R9148:Galntl5 UTSW 5 25,415,353 (GRCm39) missense possibly damaging 0.84
R9488:Galntl5 UTSW 5 25,415,437 (GRCm39) missense probably damaging 1.00
Z1176:Galntl5 UTSW 5 25,408,187 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCCCAGAAAGTGGTTTTGGG -3'
(R):5'- TGCAGTCTGTATCTGGAAACG -3'

Sequencing Primer
(F):5'- GGCTAACATGGGCTAACTGTC -3'
(R):5'- TCTGTATCTGGAAACGTAGAAGAGTC -3'
Posted On 2014-10-15