Incidental Mutation 'R0411:Galntl5'
ID 36650
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 038613-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0411 (G1)
Quality Score 221
Status Validated
Chromosome 5
Chromosomal Location 25386458-25425295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25425172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 430 (R430C)
Ref Sequence ENSEMBL: ENSMUSP00000030778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030778] [ENSMUST00000045737] [ENSMUST00000066954] [ENSMUST00000114965]
AlphaFold Q9D4M9
Predicted Effect probably benign
Transcript: ENSMUST00000030778
AA Change: R430C

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030778
Gene: ENSMUSG00000028938
AA Change: R430C

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: ENSMUST00000045737
SMART Domains Protein: ENSMUSP00000036240
Gene: ENSMUSG00000038072

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 151 386 5.3e-9 PFAM
Pfam:Glycos_transf_2 154 337 3.7e-33 PFAM
Pfam:Glyco_transf_7C 315 383 2.1e-9 PFAM
RICIN 476 607 7.09e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066954
SMART Domains Protein: ENSMUSP00000068775
Gene: ENSMUSG00000054116

DomainStartEndE-ValueType
low complexity region 12 25 N/A INTRINSIC
low complexity region 67 77 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114965
AA Change: R397C

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110616
Gene: ENSMUSG00000028938
AA Change: R397C

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (66/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,053,834 (GRCm39) probably benign Het
6030469F06Rik A T 12: 31,234,730 (GRCm39) noncoding transcript Het
Acad11 T C 9: 103,993,495 (GRCm39) F541L probably damaging Het
Acin1 G T 14: 54,884,231 (GRCm39) R92S probably damaging Het
Appl1 A G 14: 26,662,213 (GRCm39) S490P probably benign Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Arih1 A T 9: 59,393,266 (GRCm39) I122N possibly damaging Het
Bmi1 T C 2: 18,687,983 (GRCm39) probably benign Het
Bmpr1a G A 14: 34,137,834 (GRCm39) T391I possibly damaging Het
Cacna1s A G 1: 136,041,041 (GRCm39) K1256E probably damaging Het
Cacng3 C T 7: 122,367,795 (GRCm39) P225L probably damaging Het
Cd101 A T 3: 100,925,843 (GRCm39) probably null Het
Cd55 A G 1: 130,390,294 (GRCm39) probably benign Het
Cenpe T C 3: 134,928,016 (GRCm39) I258T probably damaging Het
Cfap251 C T 5: 123,428,117 (GRCm39) T538M probably damaging Het
Cma2 A G 14: 56,211,135 (GRCm39) probably benign Het
Ddost T A 4: 138,036,964 (GRCm39) S176T probably benign Het
Ddx19b A T 8: 111,750,596 (GRCm39) probably null Het
Dmxl2 A G 9: 54,286,223 (GRCm39) I2681T probably damaging Het
Ern1 C T 11: 106,289,412 (GRCm39) E964K probably benign Het
Exoc1l G T 5: 76,648,334 (GRCm39) V47L possibly damaging Het
Gga3 A G 11: 115,478,259 (GRCm39) L511P probably damaging Het
Gria2 C T 3: 80,618,165 (GRCm39) probably benign Het
Hmbs A T 9: 44,252,949 (GRCm39) L28* probably null Het
Iffo2 A G 4: 139,330,532 (GRCm39) E220G probably damaging Het
Ifi30 A G 8: 71,217,562 (GRCm39) probably benign Het
Irf2 T A 8: 47,299,096 (GRCm39) C297S probably benign Het
Izumo4 T C 10: 80,538,918 (GRCm39) Y94H probably damaging Het
Klhdc9 A G 1: 171,187,353 (GRCm39) V215A probably benign Het
Kmt2a T C 9: 44,731,261 (GRCm39) probably benign Het
Kmt2c A T 5: 25,580,955 (GRCm39) C513S probably damaging Het
Lyg1 A T 1: 37,988,977 (GRCm39) M81K possibly damaging Het
Maip1 T G 1: 57,454,852 (GRCm39) W279G probably damaging Het
Myo7a T C 7: 97,721,144 (GRCm39) T1263A probably benign Het
Naa15 T A 3: 51,373,060 (GRCm39) I701N possibly damaging Het
Ncoa3 A G 2: 165,910,463 (GRCm39) N1292S probably benign Het
Necab2 T A 8: 120,180,979 (GRCm39) probably benign Het
Nfatc1 T A 18: 80,741,257 (GRCm39) I234F possibly damaging Het
Olfm1 G A 2: 28,098,223 (GRCm39) R95K possibly damaging Het
Or10ag56 A G 2: 87,139,402 (GRCm39) T90A probably benign Het
Or10ak8 A T 4: 118,773,823 (GRCm39) N280K possibly damaging Het
Otoa T C 7: 120,755,750 (GRCm39) probably null Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pard6g A G 18: 80,160,337 (GRCm39) D150G probably damaging Het
Pax5 A G 4: 44,609,783 (GRCm39) L215S probably damaging Het
Pja2 A T 17: 64,594,516 (GRCm39) probably benign Het
Plk4 T A 3: 40,765,654 (GRCm39) probably benign Het
Polr1a A T 6: 71,955,405 (GRCm39) H1687L possibly damaging Het
Ptcd2 G A 13: 99,479,899 (GRCm39) L41F probably damaging Het
Ropn1 T A 16: 34,490,334 (GRCm39) S62T probably benign Het
Setd1a T C 7: 127,395,223 (GRCm39) probably benign Het
Setdb1 T C 3: 95,234,997 (GRCm39) D902G probably damaging Het
Sik3 T A 9: 46,120,068 (GRCm39) L719Q probably damaging Het
Slc36a1 G T 11: 55,123,333 (GRCm39) V433F probably benign Het
Slc6a3 T C 13: 73,705,169 (GRCm39) V220A possibly damaging Het
Slc6a5 A T 7: 49,561,539 (GRCm39) R24W probably damaging Het
Smox G T 2: 131,362,564 (GRCm39) R281L probably benign Het
Sulf2 G T 2: 165,935,436 (GRCm39) H226N probably damaging Het
Syne2 C T 12: 76,106,358 (GRCm39) probably null Het
Tenm3 C T 8: 48,740,826 (GRCm39) S1210N possibly damaging Het
Tns1 A T 1: 73,964,920 (GRCm39) V1237E probably damaging Het
Trf C T 9: 103,094,700 (GRCm39) V92M probably damaging Het
Ttn A G 2: 76,539,717 (GRCm39) V34423A possibly damaging Het
Vmn2r118 A G 17: 55,918,021 (GRCm39) probably benign Het
Vmn2r19 A G 6: 123,286,703 (GRCm39) Y112C probably damaging Het
Zfp326 G T 5: 106,026,641 (GRCm39) A15S possibly damaging 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
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
R2213:Galntl5 UTSW 5 25,422,527 (GRCm39) missense probably benign 0.13
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'- TGACCTGATGTTTGCTATCATGACCTG -3'
(R):5'- AGCGTACTTCTCTACTGTTGAGGTCC -3'

Sequencing Primer
(F):5'- GATGTTTGCTATCATGACCTGATCAC -3'
(R):5'- TGAGGTCCTTATGCCCACAAC -3'
Posted On 2013-05-09