Incidental Mutation 'IGL02836:Galntl5'
ID 361667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galntl5
Ensembl Gene ENSMUSG00000028938
Gene Name UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5
Synonyms 1700021B12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02836
Quality Score
Status
Chromosome 5
Chromosomal Location 25386458-25425295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25391237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 45 (K45N)
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: K45N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030778
Gene: ENSMUSG00000028938
AA Change: K45N

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 unknown
Transcript: ENSMUST00000114965
AA Change: K12N
SMART Domains Protein: ENSMUSP00000110616
Gene: ENSMUSG00000028938
AA Change: K12N

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: ENSMUST00000158217
Coding Region Coverage
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,349,782 (GRCm39) N346K possibly damaging Het
Abca15 A G 7: 119,987,439 (GRCm39) M1242V probably benign Het
Abca6 T A 11: 110,139,374 (GRCm39) E33D probably damaging Het
Abca8a T C 11: 109,961,177 (GRCm39) K582E possibly damaging Het
Abcb6 A G 1: 75,154,646 (GRCm39) L263P probably damaging Het
Adamts2 A C 11: 50,678,106 (GRCm39) E795A probably damaging Het
Avil T A 10: 126,844,864 (GRCm39) I292N probably damaging Het
Cd300ld2 T C 11: 114,904,576 (GRCm39) D97G probably benign Het
Cfh A C 1: 140,030,137 (GRCm39) I912R probably damaging Het
Cyp26c1 A T 19: 37,675,604 (GRCm39) Q156L probably benign Het
Dhx57 T C 17: 80,574,978 (GRCm39) I614V probably damaging Het
Dip2c T A 13: 9,660,826 (GRCm39) S896T probably damaging Het
Dmtn G T 14: 70,853,518 (GRCm39) P97Q probably damaging Het
Dock6 A T 9: 21,713,160 (GRCm39) V1931E probably damaging Het
Dpep2 C A 8: 106,717,227 (GRCm39) probably null Het
Dsg1c T A 18: 20,400,986 (GRCm39) L163Q probably benign Het
Esyt3 A G 9: 99,202,960 (GRCm39) probably benign Het
Fcgbp T A 7: 27,816,783 (GRCm39) I2415N possibly damaging Het
Fpr-rs6 T C 17: 20,403,307 (GRCm39) D18G probably benign Het
Fras1 T C 5: 96,682,725 (GRCm39) V74A possibly damaging Het
Frem3 T C 8: 81,341,010 (GRCm39) V1101A probably benign Het
Fut8 T A 12: 77,496,987 (GRCm39) V399E probably benign Het
Gbe1 A G 16: 70,357,983 (GRCm39) Y669C possibly damaging Het
Gcnt1 T C 19: 17,307,493 (GRCm39) I77M probably benign Het
Itprid1 T A 6: 55,875,075 (GRCm39) W342R probably damaging Het
Mark2 A G 19: 7,255,405 (GRCm39) probably null Het
Muc2 A T 7: 141,300,450 (GRCm39) probably benign Het
Nacc2 C T 2: 25,980,329 (GRCm39) V36I probably damaging Het
Nphp1 T C 2: 127,611,543 (GRCm39) I268V probably benign Het
Oosp3 A G 19: 11,678,332 (GRCm39) I5V probably benign Het
Or9m1 T G 2: 87,733,724 (GRCm39) T99P possibly damaging Het
Pex7 A G 10: 19,769,990 (GRCm39) probably benign Het
Prr14l T C 5: 32,988,440 (GRCm39) K352E probably benign Het
Rheb T A 5: 25,008,709 (GRCm39) I170F probably benign Het
Rpgrip1 A G 14: 52,382,714 (GRCm39) probably null Het
Rps2 T A 17: 24,939,650 (GRCm39) L107Q probably damaging Het
Rrp1 A T 10: 78,240,874 (GRCm39) probably benign Het
Rtcb A T 10: 85,779,806 (GRCm39) V288D possibly damaging Het
Sec14l3 T C 11: 4,020,084 (GRCm39) F174L probably benign Het
Slc28a1 G A 7: 80,775,909 (GRCm39) V202M probably damaging Het
Slc44a3 A T 3: 121,325,366 (GRCm39) C32S probably damaging Het
Syne1 G A 10: 5,359,875 (GRCm39) probably benign Het
Synrg C A 11: 83,892,804 (GRCm39) probably benign Het
Tmem219 A T 7: 126,488,121 (GRCm39) F265I probably benign Het
Tmem94 T C 11: 115,683,765 (GRCm39) I726T probably damaging Het
Trim37 T C 11: 87,087,785 (GRCm39) M632T probably benign Het
Trpm6 A T 19: 18,790,846 (GRCm39) Q627L probably damaging Het
Uvrag A G 7: 98,628,984 (GRCm39) V361A possibly damaging Het
Yipf3 C A 17: 46,562,520 (GRCm39) N308K possibly damaging Het
Zfp438 A G 18: 5,245,427 (GRCm39) probably benign Het
Zmiz1 T A 14: 25,657,166 (GRCm39) probably benign Het
Zranb3 A G 1: 127,888,562 (GRCm39) V841A 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
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
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
Posted On 2015-12-18